Download 21. CNM Dubrovnik, Croatia, October 19

3rd Pan-Slavic Congress of Child Neurology
and 21st Congress of Child Neurologists from
Mediterranean
Book Of Abstracts
Table of Contents
CONGRESS ABSTRACTS ..................................................................................................... 1
AETIOLOGY AND TREATMENT IN THE WEST SYNDROME ................................................................................................. 2
ATTENTION DEFICIT DISORDER IN CHILDHOOD ; OVERVIEW OF ETIOLOGY, BIOLOGICAL BASIS AND TREATMENT OPTIONS.
THE ISRAELI EXPERIENCE ................................................................................................................................................ 3
AUSTISM SPECTRUM DISORDER; OVERVIEW OF GENETIC AND EPIGENETIC FACTORS ...................................................... 4
AUTOLOGOUS HEMATOPOIETIC STEM CELL TRANSPLANTATION IN PEDIATRIC MULTIPLE SCLEROSIS: 5-YEAR FOLLOW-UP
...................................................................................................................................................................................... 5
BEHAVIOR DIFFICULTIES: ASSEMBLING THE PIECES, COMPLETING THE PUZZLE ................................................................ 6
“DIGITAL NATIVES” AND THE INTERNET – DO THEY REALLY KNOW HOW TO HANDLE IT? ................................................. 7
CHANNELOPATHIES IN CHILDREN WITH MARKAND-BLUME-OHTAHARA SYNDROME ....................................................... 8
CHILDREN WITH UNILATERAL CEREBRAL PALSY IN TERMS OF POSTURAL AND GAIT PATTERN IS NOT HOMOGENEOUS
GROUP .......................................................................................................................................................................... 9
CLINICAL EFFICACY AND SAFETY OF ESLICARBAZEPINE ACETATE (ESL) IN MONOTHERAPY REGIMEN AND AS AN ADD-ON
THERAPY IN FOCAL EPILEPSY ........................................................................................................................................ 10
CONGENITAL AND ACQUIRED ENCEPHALITIS IN CHILDREN OF EARLY AGE .............................................................. 11
DEVELOPMENTAL DYSPHASIA: WHAT ARE THE OUTCOMES IN THE SCHOOL AGE? ................................................... 13
DIETARY ADEQUACY OF EGYPTIAN CHILDREN WITH AUTISM SPECTRUM DISORDER COMPARED TO HEALTHY
DEVELOPING CHILDREN DEVELOPMENTAL NEUROLOGY NUTRITIONAL DISORDERS ................................................. 14
EFFECT OF ROBOTIC SELF-INITIATED MOBILITY EXPERIENCE ON COGNITION IN PRE-CRAWLING INFANTS: PRELIMINARY
FINDINGS ..................................................................................................................................................... 15
EFFECTS OF PSYCHOTROPIC MEDICATIONS ON THE DEVELOPING BRAIN ................................................................ 16
EPIDEMIOLOGY OF SYMPTOMATIC EPILEPSY IN CHILDREN IN ZABAIKALSKY KRAI ..................................................... 17
EPIGENETICS AND BRAIN DISEASE MODELING: PILOT INTERDEPARTMENTAL MOTHER- FATHER-NEWBORN BIOBANK ... 18
EPILEPSY IN PATIENTS WITH DOWN SYNDROME ................................................................................................ 19
EVERYTHING YOU WANTED TO KNOW ABOUT INTERNET RISKS BUT WERE TOO AFRAID TO ASK ................................ 20
EXPERIENCE OF THE PERAMPANEL USE IN ADOLESCENTS WITH SYMPTOMATIC EPILEPSY ......................................... 21
FACTORS INFLUENCING THE GROSS MOTOR OUTCOME OF INTENSIVE THERAPY IN CHILDREN WITH CEREBRAL PALSY
AND DEVELOPMENTAL DELAY ......................................................................................................................... 22
FEBRILE SEIZURES RISK FACTORS AND THEIR ROLE ON RECIDIVISM - OUR CLINICAL EXPERIENCE................................ 23
FUNCTIONAL OUTCOME OF CHILDREN AFTER NEONATAL SEIZURES ...................................................................... 24
GENETIC FEATURES OF JUVENILE MYOCLONIC EPILEPSY IN GEORGIAN POPULATION .............................................. 25
HOW MUCH DO WE READ TO OUR CHILDREN .................................................................................................... 26
INHERITED THROMBOPHILIA POLYMORPHISMS ASSOCIATED WITH ELEVATED LIPOPROTEIN (A) LEVELS IN PEDIATRIC
ARTERIAL ISCHEMIC STROKE ........................................................................................................................... 27
INTRATHECAL IMMUNOGLOBULIN G SYNTHESIS AND BLOOD-BRAIN BARRIER PERMEABILITY STATE IN THE GENESIS OF
RESISTANT FORMS OF EPILEPSY IN CHILDREN .................................................................................................... 28
METABOLIC DISORDERS IN SEVERE CASES OF AUTISM SPECTRUM DISORDER IN EUROPEAN AND SOUTH AMERICAN
FAMILIES ...................................................................................................................................................... 29
METABOLOMICS AS A NEW PLATFORM FOR STUDIES OF STEM CELLS .................................................................... 30
NEURODEVELOPMENTAL OUTCOME IN CHILDREN WITH UMBILICAL CORD ANOMALY IN THE AGE OF SEVEN .............. 31
NEURO-DEVELOPMENTAL OUTCOME OF SURVIVORS OF SEVERE NEONATAL INFECTIONS IN KENYA ........................... 32
NEUROGENIC BLADDER IN INFANTS AND CHILDREN WITH MYELOMENINGOCELE .................................................... 33
NEUROLOGICAL BASICS OF EMOTIONAL DEVELOPMENT OF INFANTS .................................................................... 34
NEUROMYELITIS OPTICA IN CHILDREN. CLINICAL FEATURES AND TREATMENT EFFICACY .......................................... 35
NEWBORN SCREENING FOR X-LINKED ADRENOLEUKODYSTROPHY (ALD) ................................................................ 36
OBJECTIFICATION OF EFFECTIVENESS OF MESENCHYMAL STEM CELLS APPLICATION IN PATIENTS WITH CEREBRAL PALSY
USING COMPUTER VIDEO ANALYSIS OF GAIT ..................................................................................................... 37
PROGRESSIVE SENSORINEURAL DEAFNESS AND PERIPHERAL NEUROPATHY DUE TO PTRH2 GENE MUTATION ............ 38
RADIOTHERAPY IN CHILDHOOD BRAIN TUMOURS .............................................................................................. 39
RETT SYNDROME: BIOLOGICALLY BASED THERAPEUTIC INTERVENTION AT KENNEDY KRIEGER INSTITUTE ................... 40
RISK FACTORS, CLINICAL AND RADIOLOGICAL FINDINGS IN PERINATAL STROKE....................................................... 41
ROLE OF BALANCED DIET ON EPILEPTIC CHILDREN .............................................................................................. 42
SPECIAL CHILDREN BECOMING SPECIAL ADULTS: ISSUES FOR OPTIMAL ADULT LIVING ............................................. 43
STRESS IN ADOLESCENCE MIGRAINE ................................................................................................................. 44
THE IMPORTANCE OF VESTIBULAR SYSTEM IN PEDIATRIC NEURO REHABILITATION ................................................. 45
THE ROLE OF HERPES VIRUSES IN BRAIN DAMAGE .............................................................................................. 46
THE ROLE OF MOLECULAR GENETIC ANALYSIS IN THE EVALUATION OF NEURODEVELOPMENTAL DISORDERS IN A
COMMUNITY WITH HIGH CONSANGUINITY RATE ............................................................................................... 47
THE UNIQUE EXPERTISE SYSTEM FOR CHILDREN WITH HANDICAPS, DEVELOPMENTAL DISABILITIES, RARE AND CHRONIC
DISEASES IN CROATIA ..................................................................................................................................... 48
THERAPEUTIC MEASURES IN PAEDIATRIC MIGRAINE - CAN WE DO BETTER? ........................................................... 49
TICS AND TORETTE SYNDROME IN RUSSIA ......................................................................................................... 50
VITAMIN D IN CHILDREN WITH HEADACHE ........................................................................................................ 53
POSTER PRESENTATIONS ................................................................................................. 54
AICARDI GOUTIERES SYNDROME: STUDY OF A TUNISIAN COHORT ........................................................................... 55
ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY ....................................................................................................... 56
ATYPICAL BRAIN MRI FINDINGS IN CHILDHOOD ANTI-NMDA ENCEPHALITIS ............................................................. 57
AUTISTIC SPECTRUM DISORDER AS A INITIAL FEATURE OF DUCHENNE MUSCULAR DYSTROPHY ............................... 58
AUTO-IMMUNE RESISTANT OCCIPITAL LOBE EPILEPSY : CELIAC DISEASE ................................................................... 59
2
BEHAVIORAL DISORDERS OR PARENTING DEFICIT? .................................................................................................. 60
BONE MINERAL DENSITY BY CHILDREN AND ADOLESCENTS WITH CEREBRAL PALSY IN RELATION TO THE LEVEL OF
FUNCTIONAL DISABILITY.......................................................................................................................................... 61
CHILD'S PLAY IN THE HOSPITAL ................................................................................................................................ 62
CLINICALLY AND RADIOLOGICALLY ISOLATED SYNDROME IN THE DEBUT OF MULTIPLE SCLEROSIS IN CHILDREN ....... 63
DELAYED DIAGNOSIS OF AUTISM IN ADOPTED CHILDREN......................................................................................... 64
DEVELOPMENT OF COSTELLO SYNDROME: REPORT OF 2 CASES ............................................................................... 65
EEG FINDINGS IN CHILDREN EXPOSED TO ANTIEPILEPTIC DRUGS IN UTERO ............................................................ 66
EFFICACY OF VACCINATION IN CHILDREN WITH NEUROLOGIC DISORDERS ................................................................ 67
EPIDEMIOLOGICAL AND CLINICAL ANALYSIS OF PAROXYSMAL STATES IN CHILDREN OF DIFFERENT AGE GROUPS IN
KHARKIV REGION OF UKRAINE ................................................................................................................................. 69
ETHICAL ASPECTS OF THE NERVOUS SYSTEM DISEASES THERAPY IN CHILDREN - ONE OF THE MOST VULNERABLE
GROUPS OF PATIENTS ............................................................................................................................................. 70
EVALUATION OF DYSPHAGIA IN INFANTS AT NICU WITH VIDEOFLUOROSCOPIC SWALLOWING STUDY (VFSS)............ 71
FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY DUE TO MUTATION IN THE RANBP2 GENE.................................. 72
GRAVITATIONAL MECHANISM DIAGNOSIS ON REFLEXIVE LEVEL OF CHILDREN AT THIRTY-SIXTH WEEK OF LIFE ......... 73
IMPACT OF EARLY MOTOR EXPERIENCES ON THE INCIDENCE OF DEVELOPMENTAL COORDINATION DISORDER ........ 74
KLEEFSTRA SYNDROME- CASE REPORT..................................................................................................................... 75
LANGUAGE AND LEARNING DISABILITIES IN TUNISIAN CHILDREN WITH DUCHENNE MUSCULAR DYSTROPHY ............ 76
MARDEN–WALKER SYNDROME ............................................................................................................................... 77
MESENCHYMAL STEM CELLS IN CHILD NEUROLOGY- CASE REPORT .......................................................................... 78
MESENCHYMAL STEM CELLS IN NEUROLOGY- FIRST POLISH EXPERIENCE.................................................................. 79
MYASTHENIA GRAVIS AND GRAVES' DISEASE IN TEENAGER - DIAGNOSTIC PROBLEM. CASE REPORT ......................... 80
NEURODEVELOPMENTAL DISORDERS SPECTRA IN CHILDREN WITH HEARING LOSS ................................................... 81
NEUROTOXICOLOGICAL MANIFESTATIONS AMONG DRUG ABUSERS ADMITTED TO ALEXANDRIA POISON UNIT AND
ALMAMORA HOSPITAL: PROSPECTIVE STUDY .......................................................................................................... 82
NON EPILEPTIC PAROXYSMAL EVENTS IN CHILDHOOD ............................................................................................. 83
PARENTS'HANDBOOK ABOUT CHILDHOOD IMMUNISATION ..................................................................................... 84
PARKINSONISM IN CHILDHOOD ............................................................................................................................... 85
PAROXYSMAL NONKINESIGENIC DYSKINESIA ........................................................................................................... 86
PLA2G6-ASSOCIATED NEURODEGENERATION (PLAN): CLINICAL AND GENETIC STUDY OF LARGE NORTH-AFRICAN
COHORT.................................................................................................................................................................. 87
POLR1C MUTATION: A RARE CAUSE OF HYPOMYELINATING LEUKODYSTROPHY ....................................................... 88
RASMUSSEN ENCEPHALITIS ..................................................................................................................................... 89
RISK FACTORS OF ISCHAEMIC STROKE DEVELOPMENT IN CHILDREN ......................................................................... 90
SPEECH DEVELOPMENT FEATURES OF CHILDREN WITH SPASTIC FORMS OF CEREBRAL PALSY ................................... 91
TENSION-TYPE HEADACHES AND CO-MORBID CONDITIONS IN CHILDREN AND ADOLESCENTS .................................. 92
THE DEVELOPMENTAL ABILITIES ASSESSMENT IN CHILDREN WITH IDIOPATHIC EPILEPSIES ....................................... 93
THERAPEUTIC APPROACH: OROFACIAL-MOTOR EXERCISES IN REHABILITATION OF MUSCULAR DYSTROPHY ............. 94
INDEX OF AUTHOURS....................................................................................................... 95
3
Veličković Perat M.
Academy Of Developmental Medicine, Kranj, Slovenia
The venue and dates of the Child neurology meetings of Mediterranean: 1. Iraclion, Crete, Greece,
June 9 - 11, 1987
2. 2nd Cappadocia, Turkey, August 25 - 27, 1988
3. 3rd Jerusalem, Israel, September 19 - 22, 1989 4th Cavtat, Yugoslavia, October 20 - 23, 1991
(Canceled because of the war)
4. 4th Ankara, Turkey, May 28 - 30, 1992
5. Portorose, Slovenia, October 21 - 24, 1995
6. Pelaghia, Heraklion, Crete, Greece, June 10 - 12, 1999
7. 6th Mediterranean Meeting, Alghero, Italy, June 22 - 24, 2000
8. Istanbul, Turkey, May 30 - June 1, 2001
9. Cairo/Alexandria, Egypt, March 20 - 22, 2002
10. 9th Mediterranean Meeting, Dubrovnik, Croatia, May 29 - 31, 2003
11. 10th Le Grande Motte (Hérault), France, May 6 - 8, 2004
12. 11th Alicante, Spain, April 14 - 16, 2005
13. 12th Durres, Albania, September 14 - 16, 2006
14. 13th Tunis, Tunis, March 27 - 29, 2008
15. 14th Marsala, Sicily, Italy, May 28 - 30, 2009
16. 15th Mediterranean Child Neurology, Myconos, Greece , September 22 - 26, 2010
17. 17th CNM, Piran, Slovenia, September 21 - 24, 2011
18. 18th CNM, Dead Sea, IsraelMarch 18 – 22, 2012
19. CNM, Budva, Montenegro, October 17 - 19, 2013
20. CNM, Montpellier, France, September 3 - 6, 2014
21. CNM Dubrovnik, Croatia, October 19 - 22, 2016
The venue and dates of the Pan-Slavic Child neurology meetings:
1. Bled, Slovenia, September 5 - 8, 2012
2. Yekaterinburg, Russia, April 22 - 25, 2014
3. Dubrovnik, Croatia, October 19 - 22, 2016
0
Congress Abstracts
1
AETIOLOGY AND TREATMENT IN THE WEST SYNDROME
Rešić B.1, Kuzmanić Šamija R., Tomasović M., Jelovina I., Karabeg E.
1
Clinical Hospital Center,Medical School Of University Of Split, Split, Croatia
General Hospital, Sanski Most,Bosnia And Herzegovina, Sanski Most, Bosnia and Herzegovina
2
THE GOAL'S ARE: Re-evaluated clinical and electroencephalographic characteristic of patients with
infantile spasms and futher evaluted treatment children with infantile spasms IS were identified as
brief contractions occurring in clusters,observed by pediatric neurogologist and registered on EEG
regording EEGPS or video recordings.
METHOD: clinical and neurological examinations, genderage at seizure onset, seizure type(s),
epilepsy risk factors (including history of perinatal complications or significant head trauma, history
of febrile seizurepositive family history of epilepsy and parental consanguinity).In all patients made
metabolic screen,intrauterine infections test and genetic and cerebrospinal fluid. In observation
were 7 patients differrent etiology and diferrenet combination terapy
CONCLUSION: s:Despite its absolute definition, the variability of etiologies, clinical presentation and
electrographic make it difficult to set rigid, clear treatment guidelines and research methodology
2
ATTENTION DEFICIT DISORDER IN CHILDHOOD ; OVERVIEW OF ETIOLOGY,
BIOLOGICAL BASIS AND TREATMENT OPTIONS. THE ISRAELI EXPERIENCE
Goikhman I., Zelnik N.
Carmel Medical Center, Haifa, Israel
Attention Deficit Hyperactivity Disorder (ADHD) is neuro-developmental condition in which multiple
environmental and biological factors, of individually small effect, interact to produce an abnormal
brain condition, that manifests as cognitive and behavioral deficits. ADHD possesses a major genetic
factor as demonstrated by twin studies. Genetic association studies in ADHD patients have focused
on the analysis of monoamine system genes. There is an additional evidence for associations with the
serotonin IB receptor (5-HT1B) and serotonin transporter (SERT). The following talk will describe the
Israeli experience of treatment of pediatric patients with ADHD. We concluded that medication
management in combination with behavioral treatment was found to be the most effective in
significantly improving the core symptoms of ADHD.
3
AUSTISM SPECTRUM DISORDER; OVERVIEW OF GENETIC AND EPIGENETIC
FACTORS
Goikhman I., Zelnik N.
Carmel Medical Center, Haifa, Israel
Autism spectrum disorder (ASD) is a developmental disorder characterized by impaired
communication and social skills. A recent increase in cases of ASD from 4-5 of 10,000 persons to 100
to 10,000 currently may not solely be explained by genetic factors. Thus, it needs to be determined
whether other factors play a role in the onset of ASD. Recent studies have investigated
environmental factors such as exposure to certain chemicals, nutrition among others in the
pathogenesis of ASD via an epigenetic mechanism. The following talk will review several of those
recent studies including some conducted in Israel, that may lead to greater understanding to the rise
in ASD during the recent years.
4
AUTOLOGOUS HEMATOPOIETIC STEM CELL TRANSPLANTATION IN PEDIATRIC
MULTIPLE SCLEROSIS: 5-YEAR FOLLOW-UP
Bembeeva R.1, Kirgizov K.2, Volkova E.3, Skorobogatova E.4, Piliya S.3, Bologov A.5, Zavadenko N.1
1
Department Of Neurology, Neurosurgery And Medical Genetics Of Pediatric Faculty, Pirogov Russian
National Research Medical University, Moscow, Russian Federation
2
Dmitry Rogachev Federal Research Center Of Pediatric Hematology, Oncology And Immunology, Moscow,
Russian Federation
3
Department of Psychoneurology-1, The Russian Children's Research Hospital, Moscow, Russian Federation
4
Department of Bone Marrow Transplantation, The Russian Children's Research Hospital, Moscow, Russian
Federation
5
The Russian Children's Research Hospital, Moscow, Russian Federation
AIM: Autologous hematopoietic stem cell transplantation (Auto-HSCT) is the method of choice for
patients with refractory multiple sclerosis (MS). We have studied the effectiveness and long-time
results of this method in pediatric patients.
MATERIALS AND METHODS: 10 patients were included into the study: 8 females, 2 males. Median
age was 16,7±1,7. Median MS duration prior to Auto-HSCT was 15,5±4,1. Age of MS onset: 4-14 years
of age (12,3±1,7). Initial median score on the Expanded Disability Status Scale (EDSS) was 6,16±0,2.
All patients had severe refractory MS treated with corticosteroids, interferons, plasmapheresis and
mitoxantron with negative
RESULTS: All patients had inflammation signs. Procedures included: stem cells mobilization with
Cyclophosphomide, conditioning with Cyclophosphomide 200 mg/kg and ATGAM 160 mg/kg. Median
follow-up was 21,1±0,9 (4-60 months). Results All patients demonstrated positive results with EDSS
improvement: from 2,5±0,21 in the first 60 days to 0,2±0,02 after 60 days. Maximal individual EDSS
improvement was 5,5. EDSS at 2 patients improved to 1. Five patients had severe refractory
secondary- progressive MS with the long duration of ineffective treatment. These patients showed
the minor improvement and required the additional immunomodulation after Auto-HSCT. 2 patients
relapsed (on clinical and MRI data). No severe complications were registered.
CONCLUSIONS: Auto-HSCT is an effective approach to autoimmune inflammation reduction and
treatment of severe refractory pediatric MS. In-time Auto-HSCT can significantly minimize the
disability level and improve the outcome of MS. Most patients remained in remission during the long
period.
5
BEHAVIOR DIFFICULTIES: ASSEMBLING THE PIECES, COMPLETING THE PUZZLE
Janjua F.
Sidra Medical and Research Center, Doha, Qatar
AIMS: : The objective of this paper is to demystify the problem of assessing and diagnosing children
presenting with behavioral difficulties.
BACKGROUND: Behavioral difficulties in children and young people continue to be one of the most
frequent reasons for referral both to Pediatric Neurodisability and Child and Family Psychiatric
Services. Still, in many cases, assessment and diagnosis of the reasons behind it remains problematic
and extremely challenging. In fact, these children's behavior can be so extraordinarily violent and
provocative, so sudden and inexplicable, that it is often difficult to know where to start. To
complicate things further, very often, some of these children come from disturbed family
backgrounds, may have suffered a degree of neglect or emotional abuse sometime in their lives, or
even been witnesses to very traumatic family bereavements. In these situations it is very common to
assume that the child's behavior must be the consequence of those environmental circumstances.
CONTENT: This paper will include the following sections: -Reasons for Referral: Most common
complaints or behavioural descriptions -Main causes of behavioural problems - The need for multiagency assessment -How to tackle differential diagnosis -A Framework for the diagnosis of
Behavioural Difficulties -Differential diagnosis with less common conditions -'Nobody made the
connection': The prevalence of Neurodisability in young people who offend -One last question: is
there such thing as a 'naughty child?' -How to manage a meltdown in the clinic area without calling
'code blue'
CONCLUSION: It will be demonstrated that using every Pediatrician's systematic approach to
diagnosis (i.e. detailed history taking and objective physical and developmental assessments)
together with information obtained by liaising with schools and other agencies, certain patterns
began to emerge. As a result, obtaining an accurate diagnosis is not only possible but inevitable.
6
“DIGITAL NATIVES” AND THE INTERNET – DO THEY REALLY KNOW HOW TO
HANDLE IT?
Vreča M.
Arnes, Ljubljana, Slovenia
In recent years, children and teens have grown up with daily use of the internet and other new
technologies. Since children have grown up in this digital world, the prevailing paradigm has long
been that they profit from and understand the internet and these new technologies much better
than adults. But has this actually proven to be the case? The answer is: “Unfortunately not.” Children
learn practical skills rapidly, from installing new programs to the intuitive use of new media, but are
often completely ignorant about how to apply their skills properly. Even though most of them cannot
imagine their life without these technologies, they somehow still do not see the internet as being the
“real” world. For example, there have been many cases of severe cyberbullying where the
perpetrators were unable to see how their actions could be seen as bullying. Since it was carried out
“only virtually”, they saw it as a kind of joke and not as serious as if it had been “real”. The internet is
also shaping their views on privacy and popularity. For many children and teens, the pressure
exerted, either by peers or by social media, to have an online presence means that they feel obliged
to post more and more of their personal data, pictures, videos, etc. Only by giving up almost all of
their privacy do they feel popular and accepted. There is also an issue as to whether the widespread
phenomenon of sexting (sex + texting) among young people will have negative effects on their lives
later on. In recent years there has been controversy over whether the use of technologies damages
the brain of young children and there have been calls for young people to not be exposed to
technology at all. There is also an ongoing debate as to whether it may even trigger “digital
dementia”.
7
CHANNELOPATHIES IN CHILDREN WITH MARKAND-BLUME-OHTAHARA
SYNDROME
Kholin A.1, 2, Il`ina E.2, Kanivets I.3, Zavadenko N.1
1
Department Of Child Neurology, Neurosurgery And Medical Genetic, Russian National Research Medical
University, Moscow, Russian Federation
2
Department Of Psychoneurology N2, Russian Children Clinical Hospital, Moscow, Russian Federation
3
Center of Medical Genetics “Genomed”, Moscow, Russian Federation
AIMS: : Severe epilepsy with multiple independent spike foci (SE-MISF, Markand-Blume-Ohtahara
syndrome or Ohtahara II syndrome) is a type of infantile epileptic encephalopathy, characterized by
multifocal independent spike foci pattern on the EEG and different types of pseudogeneralized and
minor motor seizures. The aim of the study was analyzing the results of genetic investigation in two
children with SE-MISF syndrome.
SUBJECTS AND METHODS: In two boys with SE-MISF were newly revealed inherited channelopathies
by the methodic of whole exome sequencing.
RESULTS: In the boy M.M. (8 month) with MISF pattern on EEG and seizures of tonic spasms and
ophthalmotonic were revealed two mutations in KCNJ10 gene: g.160012017C>CG and
g.160011208AG>A. In the boy S.A. (2 year 7 month) with MISF pattern on EEG and tonic spasms,
axorhyzomelic, ophthalmotonic and myoclonic seizures were revealed combination of five
epileptogenic mutations: SCN2A (c.5213C>A), GABRG2 (c.1184C>A), SPTAN1 (c.4141C>A), SCN8A
(c.2779C>A) and GRIN2A (c.1603G>T).
CONCLUSION: Channelopathies could be the etiologic factors of severe epileptic encephalopathies in
infancy. Patients with pharmacoresistant infantile and early childhood encephalopathies must be
considered as candidates for whole exome sequencing methodic.
8
CHILDREN WITH UNILATERAL CEREBRAL PALSY IN TERMS OF POSTURAL AND GAIT
PATTERN IS NOT HOMOGENEOUS GROUP
Domagalska-Szopa M., Szopa A.
Medical University Of Silesia In Katowice, Katowice, Poland
BACKGROUND: Despite a group of children with hemiplegia appearing to be relatively homogeneous
the skilful observer can notice that their postural and gait patterns differ. The purpose of this study
was to recognize and define different postural and gait patterns in children with unilateral CP.
Additionally, another aim of this study was to outline some implications for managing physiotherapy
in these children.
STUDY PARTICIPANTS & METHODS: The study included 45 outpatients with hemiplegia. The
examination consisted of three inter-related parts: 1) paedobarographic measurements of body mass
distribution between the body sides, 2) moiré topography (MT) examinations, and 3) 3-dimensional
instrumented gait analysis.
RESULTS: On the basis of the index of asymmetry of weight distribution on the unaffected/affected
body sides, hemiplegic children were divided into four subgroups based on the above-mentioned
criteria: 1) left side hemiplegic and the tendency to overload the affected body side, 2) right side
hemiplegic and the tendency to overload the affected body side 3) left side hemiplegic and the
tendency to overload the unaffected body side, and 4) RL - right side hemiplegic and the tendency to
overload the unaffected body side. Based on the MT parameters, two different postural patterns
were described: (1) the pro-gravitational postural pattern (PGPP), and (2) the anti-gravitational
pattern (AGPP). Based on the Gillette Gait Index (GGI) values and a set of 35 selected spatiotemporal
gait and kinematics parameters we also found two hemiplegic gait patterns, which resulted directly
from their postural patterns: the anti-gravitational gait pattern (AGP) in children with hemiplegia,
and the pro-gravitational gait pattern (PGP) in children with hemiplegia
CONCLUSION: Information on differences in postural and gait patterns may be used to improve the
guidelines for early therapy for children with hemiplegia before abnormal gait patterns are fully
established.
9
CLINICAL EFFICACY AND SAFETY OF ESLICARBAZEPINE ACETATE
(ESL) IN MONOTHERAPY REGIMEN AND AS AN ADD-ON THERAPY
IN FOCAL EPILEPSY
Karlov V.
Medical Faculty Department Of Nervous Diseases Of Medical University, Moscow, Russian Federation
RATIONALE: Eslicarbazepine acetate is a single daily dose voltage-gated sodium channel blocker
approved in Russia as add-on-therapy for adults with partial onset seizures with or without
secondary generalization and marketed since February 2015. Data related to ESL efficacy and safety
in routine clinical practice in Russia is limited. Our goal was to summarize local clinical experience
with ESL in our clinical center in terms of safety and efficacy.
METHODS: This is a retrospective observational study. All epilepsy patients were initiated ESL
therapy between February 2015 and January 2016 at the Neurology Clinic of Medical University
(Moscow, Russia).
RESULTS: 12 patients (6 females) on ESL therapy were identified. Average age - 25 years (15 - 38), 2
patient < 18 years. Epilepsy duration varies from several month in 1 case to 7-33 years. All patients
had symptomatic/cryptogenic epilepsy with partial secondary generalized tonic-clonic seizures, 10 of
them with pharmacoresistant epilepsy, in 2 patients ESL was prescribed as an initial therapy. By the
moment of ESL initiation 9 patients received from 2 to 4 AEDs, 1 patient received 6 AEDs in the past.
All 9 patients received carbamazepine (CBZ) in the past without clinical effect. At the moment 4
patients receive ESL in monotherapy regimen, 7 patients - as an add-on therapy in combination with
2-4 AEDs. Daily doses of ESL vary from 400 mg to 1200 mg. In 1 case ESL daily dose was 1600 mg.
Significant sedation was observed in 2 patients, which includes 1 patient received ESL in daily dose
1600 mg – ESL dose was decreased. Outcomes: 1 patient withdrew her consent due to lack of
experience with ESL in Russia. In 1 patient therapy was ineffective and surgery treatment was
performed. 3 patients experience at least 50% reduction in seizure frequency, 4 patients were
seizure free. In 3 patients immediate therapy effect was observed, but follow-up period in these
cases is less than three month, and insufficient to make any conclusion
CONCLUSION: Ineffective therapy with CBZ does not mean that ESL will not be effective as either.
This limited number of ESL therapy observations in clinical practice confirms that
pharmacoresistance in epilepsy is not a verdict and it can be overcome with the course of time while
new treatment option appears.
10
CONGENITAL AND ACQUIRED ENCEPHALITIS IN CHILDREN OF
EARLY AGE
Skripchenko N.1,3, Ivanova G.1,3, Skripchenko E.2, Ivanova M.1,3, Gorelik E.1
1
Federal State Institution Research Institute Of Children'S Infections Of The Fed, Saint-Petersburg, Russian
Federation
2
Institute Of Human Brain Named After N.P.Bekhtereva, Saint-Petersburg, Russian Federation
3
Saint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russian Federation
INTRODUCTION: According to the data of the authors encephalitis accounts for 17-23% in the
structure of neuroinfections in children. Specific load of the disease is associated with those children
of early age in whom the frequency of disability after encephalitis accounts for 57-66%, and mortality
- for 14-21%. The matter of topical interest is to specify the clinical and radiation features of
encephalitis in children of early age.
MATERIALS AND METHODS: The authors performed the observation of 96 children aged from 1
month to 1 year getting the treatment at the clinic of neuroinfections of Scientific Research Institute
of Children’s Infections. Catamnesis was from 1 to 4 years (on the average 2,2±0,5 years). At the
admission to hospital all children were performed brain МRI in the modes SE, FSE, IR, FLAIR and DWI
to get PD, Т1 and Т2-weighed images in three planes, and also contrast enhancement of the image by
omniscan preparation utility in the dosage of 0,2 mg/kg and MR-angiography of the brain vessels
without contrast material. Etiological diagnostics included blood and liquor examination by the
methods of immune-enzyme analysis, PCR, determination of avidity of IgG antibodies for TORCH
infections.
RESULTS: Congenital encephalitis was diagnosed in 38 children (40%), acquired encephalitis - in 58
children (60%). Herpes viruses were found in 63% of cases in the aetiology of encephalitis, and in the
case of congenital encephalitis 58% of cases accounted for viral-bacterial aetiology whereas in the
case of acquired encephalitis 95% of children had viral aetiology. Manifestation features of
congenital encephalitis included subacute development of focal symptomatology with condition
deterioration in 76% of cases during the first 3 months of life (on the average at the age 7,5±0,2
weeks) when focal and/or secondary-generalized convulsions developed on the background of
normal temperature. In 24% the convulsions got a status course. In 92% of cases there were no
inflammatory changes in the liquor. MRI of 84% of patients presented brain diffuse impairment in the
form of panencephalitis characterized by the presence of atrophy in cortical parts and white
substance, disorder of myelinization processes. In 17% of cases the process was limited by
periventricular area. In 80% of children there were revealed various CNS defects, and in 34% of
children - calcifications. In 6-8 months in 92% of children there was observed the increase of atrophic
changes in CNS, and appearance of cystous-gliosis sites in periventricular areas. In 84% the outcome
of the disease was marked disorder of cognitive functions formation, including speech disturbances
and hemiparesis, a symptomatic epilepsy as well, in 16% - only motor deficiency. In 76% of cases
acquired encephalitis developed at the age from 6 months to 1 year and only in 24% of cases - during
the first half of the year. In 79% of children the occurrence of focal neurologic symptomatology was
preceded by temperature rise within 1-2 days, repeated vomiting, in 76% of cases there developed
secondary-generalized and focal convulsions, hemiparesis, oculomotor disorders, disturbances of
consciousness to sopor-coma. CSF examination revealed pleocytosis on the average 35,4±10,2 cells
11
per 1 mcl in all patients, and the increase of proteins to 1,0 g/l in 50% of cases. MRI revealed brain
multifocal involvement with the localization of foci in both cortical-subcortical parts of temporal and
frontoparietal lobes, and in white substance subcortically and periventricularly, in cerebellum, in 69%
the foci accumulated the contrast, there were revealed small sites of haemorrhage in subcortical
parts, the signs of mass-effect. In the outcome of encephalitis there was a partial regress of focal
changes with the development of atrophic process and the sites of cystous-gliosis changes. In
catamnesis 50% of children had moderate-severe neurologic deficiency, and 50% - marked cognitive
and motor impairment.
CONCLUSION: Congenital and acquired encephalitis in children of early age is different by the
development features, the course, МRI picture and outcomes.
12
DEVELOPMENTAL DYSPHASIA: WHAT ARE THE OUTCOMES IN THE
SCHOOL AGE?
Zavadenko N.
Pirogov Russian National Research Medical University, Moscow, Russian Federation
The developmental dysphasia (DD) represents a severe speech and language disorder due to the
brain language areas underdevelopment or damage in the preverbal period. Considerable evidence
points to the persistence of even mild language impairments and their association with problems in
cognition, learning, achievement and socio-emotional functioning into adolescence and adulthood
(Cohen N.J., 2002). 110 children (87 boys, 23 girls) in whom DD was diagnosed at the age of 3-4 years
were included into a retrospective study. At their 7-9 years of age they underwent neurological and
psychological examination. The absence of any neurodevelopmental deviations or neurological
disorders was established in only 8 of children (7.3%). Manifestations of DD were demonstrated to
be predecessors of other neurodevelopmental disorders which course runs the stage of general
speech underdevelopment (GSU), and these disorders included dyslexia and dysgraphia (13.6% of
schoolchildren), attention deficit hyperactivity disorder (35.5%), autistic spectrum disorders (6.3%).
In other cases, despite the positive dynamics in speech and language development, the
schoolchildren had dyslalia (11.8 %), chronic fatigue syndrome (7.3 %), frequent headaches (5.5 %),
chronic motor tics (5.5 %) or nocturnal enuresis (2.7 %). Five patients suffered other disorders,
including mild intellectual developmental disorder (3 patients), epilepsy (1) and schizotypic disorder
(1). The results of this examination were also dependent on the initial levels of GSU. For instance, the
above disorders were absent in 7 (9.0%) of children with less severe 2nd level of GSU, but in only 1
(3.1%) with 1st level of GSU in their medical histories. Thus, unfavorable outcomes are more likely in
children with more severe delays in speech and language development, and their school and social
adaptation is frequently compromised. The early multimodal treatment in DD might improve the
long-term outcomes.
13
DIETARY ADEQUACY OF EGYPTIAN CHILDREN WITH AUTISM
SPECTRUM DISORDER COMPARED TO HEALTHY DEVELOPING
CHILDREN DEVELOPMENTAL NEUROLOGY NUTRITIONAL
DISORDERS
Meguid N.1, Anwar M.1, Sultan E.2, Hashish A.1
1
Department Of Research On Children With Special Needs, Medical Division, National Research Centre, Giza,
Egypt
2
Department Of Clinical Nutrition, National Nutrition Institute, Cairo, Egypt
INTRODUCTION: Although the etiology and pathology of autism is poorly understood, a number of
environmental, genetic factors and oxidative stress have been linked to the pathophysiology of ASD.
Conventional treatment is based on the combination of behavioral and dietary therapy together with
pharmacotherapy as food is no longer valued from a nutritional point of view only rather it is equally
valuable from a health perspective. This study aimed to compare the nutritional status of children
with autism with that of healthy developing.
METHODS: Assessment of nutritional and anthropometric data, in addition to biochemical
assessment for nutrient deficiencies was performed. A total of eighty children with autism and eighty
typically developing were enrolled in this study. Parents were asked to complete the questionnaire
regarding the different types of food and the proportion of a serving of their children. Biochemical
analysis of micro and macronutrients were done.
RESULTS: Plotting on the Egyptian sex-specific growth chart, the cases weights as well as weight for
age are significantly higher than control group. No differences between groups were observed as
regard total kcal, carbohydrates, and fat intake.23.8% of cases versus 11.3% in control group take
below the RDA of protein. Autistic children showed low dietary intake of some micronutrients;
calcium, magnesium, iron, selenium and sodium, in addition they had significantly high intake of
potassium and vitamin C compared to controls. Serum Mg, iron, Ca, folate, vitamin B12 and vitamin
B6 levels in children with autism were significantly low compared with children without autism.
Significant positive correlations between serum Mg, iron, Ca, vitamin B12 and folate and their levels
in food were present. This results confirming that different nutritional inadequacies were observed in
Egyptian children with ASD.
CONCLUSION: We recommend screening of the nutritional status of autistic children for nutrient
adequacy to reduce these deficiencies by dietary means or by administering appropriate vitamin and
mineral supplements. We emphasized that nutritional intervention plan should be tailored to
address specific needs. This work was supported by the Science and Technology Development Fund
in Egypt (STDF).
14
EFFECT OF ROBOTIC SELF-INITIATED MOBILITY EXPERIENCE ON
COGNITION IN PRE-CRAWLING INFANTS: PRELIMINARY FINDINGS
Larin H., Stansfield S., Dennis C., Rader N., Pena-Shaff J.
Acting Associate Dean For Undergraduate Academic Programs Ithaca College, New York, United States
INTRODUCTION: The emergence of cognitive and perceptual skills in infants has been linked with
independent locomotion. Infants who experience self-initiated locomotion, such as crawling, have
been found to have developmental gains across domains not shared with infants who do not have
this experience. However, these results are based on quasi-experimental research without random
assignment of infants to a crawling or non-crawling group, limiting their interpretation. Initial studies
indicated that infants as young as 5 months old are capable of learning to use the WeeBot, a robotic
mobility device controlled by infant weight-shifting while seated. The purpose of this study was to
assess the effect of early self-initiated mobility experience on the executive function of pre-crawling
infants using an experimental design with infants randomly assigned to a locomotor or nonlocomotor condition. If cognitive advantages are found in the locomotor group, this would strongly
argue for providing powered mobility to children with motor impairments as early as possible.
MATERIAL AND METHODS: This study is ongoing. To date, twelve 5-month old infants were
randomly assigned to a locomotor (WeeBot) or non-locomotor (sitting) group. The Bayley III was
administered before and after a series of twelve experiences comprised of 3 minutes of free play, 10
minutes of driver training or direct reaching, and a final 3 minutes of free play, over an 8-week
period. At 7 months, executive function was measured using a dancing Cat Puppet Task (gaze
counts/total time looking at a video and pupil diameter in fixations) and a Rule-Switching Task
(number of time of anticipatory look to correct side).
RESULTS AND CONCLUSION: Infants in the locomotor group showed more efficient attention to the
puppet and also had a higher percentage of correct anticipatory looks than infants in the nonlocomotor group. These preliminary findings suggest that early self-initiated motion experience is
important in the development of cognitive abilities. This information expands our knowledge on
executive function of infants and the intricate role of locomotor experience. In addition it reinforces
the idea that means of self-initiated mobility for children with motor impairments, such as the
WeeBot, should be offered earlier than current practice.
15
EFFECTS OF PSYCHOTROPIC MEDICATIONS ON THE DEVELOPING
BRAIN
Reneman L.
Dept. Of Radiology, Acedemic Medical Center, University Of Amsterdam, Amsterdam, Netherlands
A growing number of children are exposed to psychotropic drugs prescribed to them by clinicians.
For example, it is estimated that approximately 32.000 children and adolescents are treated with
methylphenidate (MPH) for attention deficit hyperactivity disorder (ADHD), and another 9.000
children and adolescents with fluoxetine for major depressive disorder (MDD) and anxiety disorders
in the Netherlands alone. Curiously enough, many of these medications have never been tested or
licensed for children and therefore little or nothing is known about side effects and efficacy. It is
therefore vitally important that long-term effects of psychotropic drugs on the developing brain and
the behavioral consequences are evaluated. In the effects of Psychotropic medications On the
developing Brain (ePOD) project we investigate whether the effects of MPH and fluoxetine on
neurobiological outcomes are dependent on age. The hypothesis is that these drugs induce
neuroadaptational processes that influence normal outgrowth of several neurotransmitter systems
and neurogenesis when administered during brain development. The results of our study will provide
new insights into the modulating effect of age on MPH and fluoxetine treatment, increase our
understanding of the working mechanism and long-term safety of MPH and fluoxetine in children
and adolescents. In the meantime, ePOD further emphasizes the importance of ensuring a proper
diagnosis when prescribing MPH and fluoxetine to the pediatric population. In this presentation the
preliminary results of ePOD's pre-clinical and clinical studies will be discussed.
16
EPIDEMIOLOGY OF SYMPTOMATIC EPILEPSY IN CHILDREN IN
ZABAIKALSKY KRAI
Marueva N.1, Shnayder N.2, Shulmin A.2, Shirshov Y.1, Goltvanits G.3, Leontieva E.3, Kulinich T.4
1
The Chita State Medical Academy, Chita, Russian Federation
The Krasnoyarsk State Medical University Named After Prof. V.F. Voyno-Yasenetsky, Krasnoyarsk, Russian
Federation
3
Regional Children Clinical Hospital, Chita, Russian Federation
4
The Head Office of Medical and Social Assessment in Zabaikalsky Krai, Krai, Russian Federation
2
The aim is to study epidemiology of symptomatic epilepsy (SE) in children in Zabaikalsky Krai during
2004–2014.
MATERIALS AND METHODS: register data of pediatric patients with epilepsy and seizure syndromes
were analysed in Regional Antiepileptic Centre (RAEC) during 2004-2014. Results and discussion. SE
incidence increased from 0.48(143 cases in 2004) to 1.62 (142 cases in 2014) per 1000 pediatric
population. IE incidence had no significant difference between Chita residents and children who lived
in Zabaikalsky krai. Symptomatic forms predominated in children of the age groups from 2 months to
7 years. During 2004-2012 the children with SE were registered to have generalized forms more
frequently. Since 2013 the incidence of focal forms has been predominated. Generalized forms
occurrence decreased from 56.64% in 2004 to 48.95% in 2014. The incidence of focal forms increased
from 43.36% to 51.05%, respectively. Cases of temporal and frontal symptomatic epilepsies
predominated in focal forms.
17
EPIGENETICS AND BRAIN DISEASE MODELING: PILOT
INTERDEPARTMENTAL MOTHER- FATHER-NEWBORN BIOBANK
Milanovic S.1
1
Mother-Child Wellness Clinical And Research Center, Boston, United States
Departments Of Psychiatry And Obgyn Boston University School Of Medicine, Boston Medical, Boston,
United States
2
INTRODUCTION: Providing clinical care for pregnant mothers, and building up early interventions for
mothers, newborns and children, has a potential to offset some of the soaring health care costs.
Mental health disability associated with pregnancy and postpartum profoundly affects mothers and
newborns. Additionally, various adverse environmental influences during pregnancy have a potential
to affect childhood conditions incidences and trajectories (developmental delay, ADHD, Autism,
depression but also general medical conditions such as obesity or asthma). Basic research
demonstrates that stress, nutrition and environmental toxins alter epigenetic transgenerational
inheritance, thereby affecting offspring behavior, cognition and medical outcomes. Recent human
epidemiological studies have confirmed that stressful experiences during pregnancy, poor nutrition
and/or environmental toxin exposures have long-term consequences on physical and emotional wellbeing of newborn. In neuroscience, complex interplay between environmental factors during
pregnancy is hypothesized to alter miRNA expression and DNA methylation and change brain
development trajectory. Mother’s stress or environmentally induced pro-inflammatory metabolic
state may also modulate timing and pace of new neuron formation and their connections in fetal
brain, and open the door for high risk mental health outcomes.
CAPACITY BUILDING AND SHORT-TERM GOALS: At Boston Medical Center, Boston University
(BMC/BU), we are building up the interdepartmental research initiative towards establishing a pilot
BMC/BU biobank. Initially, the biobank will include: i) mother and father blood samples, ii) cord
blood and newborn saliva and iii) newborn brain imaging data. Biobank will be integrated with the
mobile platform, designed to capture cross sectional and longitudinal clinical data in pregnant and
postpartum mothers and their offspring. This design will allow for testing the outlined hypotheses
about the outcomes of “in utero” genome and epigenome interactions on brain and body
development and perhaps open the door for cost effective early interventions. For the translational
neuroscience project, our team will use multimodal brain imaging including cell tracking1, in vivo2,3
and in vitro metabolomics4. BMC/BU biobank investigators and collaborators may choose various
“omics” approaches such as genetics, transcriptomics, proteomics or metabolomics to test
hypothesis about psychiatric, neurologic and medical outcomes. Comprehensive biobank aims to
facilitate translational research and open the door to personalized medicine in neurodevelopmental
disorders.
LONG-TERM GOALS: Existing US academic mother-newborn biobanks are mostly focused on single
disciplines, such as fertility, pregnancy and/or cancer outcomes. There is limited number of initiatives
collecting biological samples from mother and newborn and, to our best knowledge, only two
inclusive of mother, father and newborn. Therefore, our initiative is the first of this kind in US. It will
lay a foundation for the human fetal brain and body development and disease risk research,
psychopathology but also various medical outcomes, such as premature birth, childhood asthma or
obesity to name the few.
18
EPILEPSY IN PATIENTS WITH DOWN SYNDROME
Kholin A.1, 2, Il`ina E.2, Zavadenko N.1
1
Department Of Child Neurology, Neurosurgery And Medical Genetic, Russian National Research Medical
University, Moscow, Russian Federation
2
Department Of Psychoneurology N2, Russian Children Clinical Hospital, Moscow, Russian Federation
AIMS: Children with Down syndrome (DS) have high risk of epilepsy especially at the first years of
life. Epilepsy in DS appeared in 8,1% of all cases and is presented 20 times higher than in overage
population. The aim of the study was analysis the forms of epilepsy, age of debut, AEDs efficiency
and prognosis of epilepsy in Down syndrome. Subjects and
METHODS: At the period 2000-2015 at the Department of Psychoneurology N2, Russian Children
Clinical Hospital and Department of Child Neurology, Neurosurgery and Medical Genetic, Russian
National Research Medical University were observed 9 patients with Down syndrome (5 boys and 4
girls). Eight children with classic variant (47,XX,+21) and one boy with mosaicism (46, XX/47,XX,+21).
RESULTS: Age of debut of epilepsy varies from 1,5 month to 4 years (9 month at the average), in 8
from 9 patients (88,9%) before 1 year of life. The most part of patients with DS presented West
syndrome (n=6, 66,7%), 2 patients with Markand-Blume-Ohtahara syndrome or severe epilepsy with
multifocal independent spike foci – SE-MISF (22,2%) and one girl with focal frontal lobe epilepsy,
Lennox-Gastaut-like phenotype (11,1%). West syndrome was characterized by flexor and flexorextension tonic spasms, serial and single. SE-MISF characterized of combination of tonic spasms,
ophthalmo-tonic, myoclonic and versive tonic seizures. Lennox-Gastaut-like phenotype – with
pseudo-generalized tonic axorhizomelic and myoclonic seizures. Clinical remission was observed in 5
of 9 patients with DS (55,6%) and significant decreasing oа seizures – in 4 (44,4%) of children. Clinical
remission was achieved at valproate monotherapy and significant improvement at combine therapy
of valproate with lamotrigine, topiramate, benzodiazepines and barbiturates; in one case – with
combination of 3 drugs (valproate + benzodiazepine + barbiturate). Topiramate demonstrated good
effectiveness at tonic seizures, but with aggravation of myoclonic. Carbamazepines demonstrated
low effect with high aggravation risk, ethosuximide provoked gastrointestinal problems and low
appetite.
CONCLUSION: Epileptic seizures in DS predominantly had manifestation in infancy (88,9%). Epilepsy
had good prognosis (complete remission of seizures in 55,6% and significant decreasing oа seizures –
in 44,4% of cases). The most effective drugs were valproates in monotherapy and in combination
with lamotrigine, benzodiazepines and barbiturates.
19
EVERYTHING YOU WANTED TO KNOW ABOUT INTERNET RISKS
BUT WERE TOO AFRAID TO ASK
Vreča M.
Arnes, Ljubljana, Slovenia
The internet has become an indispensable tool for all of us. As a result, criminals use it as a good
source of income and this has turned into a very lucrative industry in recent years. Viruses, Trojan
horses and worms have been problematic since the internet’s inception, but a new level was reached
in 2015 with the emergence of a wave of new “cryptoviruses”, which encrypt all the personal files on
the infected computer. Only by paying a ransom can you hope to restore the encrypted files, and the
going rate for this can be as high as USD 2,000. Phishing is also a major concern, and there is a
growing number of phishing pages that usually take the form of a bank or email provider web page.
Victims are lured to these pages via fake urgent emails pretending to be sent by an email provider or
a bank. Many of you may already be aware of the fake shopping websites. Scammers still use the
“classic” approach like “Nigerian scams”, for instance, but there are also many newer approaches
being used, from fake lottery wins to SMS clubs. There is even now a whole new field of scams that
target scientists and researchers – predatory scientific journals and conferences. It is therefore vital
to keep up to date with all these issues since social engineering remains the go-to method for the
criminal underworld. If we want to stay safe on the internet, we must stay up to date with
information about the risks and not forget the basics – the use of clever passwords, for instance.
20
EXPERIENCE OF THE PERAMPANEL USE IN ADOLESCENTS WITH
SYMPTOMATIC EPILEPSY
Iarmukhametova M.
Kazan State Medical University, Kazan, Russian Federation
The objective of this study was to assess the efficiency of perampanel in adolescents with
symptomatic epilepsy. The study included 20 adolescents with symptomatic epilepsy (9 male and 11
female patients) with an average duration of the disease 7.3 years. The diagnosis was based on
clinical manifestations of seizures, EEG data, magnetic resonance imaging (MRI) of the brain. Seizures
are classified in accordance with the modern classification of seizures and epilepsy established by
ILAE in 2001. The analysis showed that among the causes of the disease in these patients there were
high percentage of traumatic brain injuries (TBI) - 65% (n = 13), abnormalities of brain development 20% (n = 4), inflammatory diseases of the brain - 10% (n = 2), and brain tumor - 5% (n = 1). Of the 13
adolescents with posttraumatic epilepsy (PTE) 25% (n=5) have concussion of the brain (CB), multiple
CB - 10% (n = 2), mild cerebral contusion (CC) - 10% (n = 2) , severe CC with subdural hematoma 10% (n = 2), severe CC with subarachnoid hemorrhage- 10% (n = 2). Evaluation of the neurological
status of patients revealed abnormalities of the following nature: symptoms of cranial nerves disease
in 45% (n = 9) of patients, mild hemiparesis - 10% (n = 2), severe hemiparesis - 20% (n = 4),
coordination disorders - 10% (n = 2), left-sided pyramidal insufficiency - 5% (n = 1), double-sided
pyramidal insufficiency - 5% (n = 1), left-sided hemianesthesia - 5% (n = 1) MRI of the brain revealed
the following: glial local lesions - 35% (n = 7), cystic focal lesions 20% (n = 4), malformations of the
brain structures - 20% (n = 4), internal hydrocephalus - 20% (n = 4), brain tumor - 5% (n = 1). All
patients were examined during the interictal period. Against a background of general brain disorders,
focal epileptiform activity (spike-and-slow-wave, sharp wave, sharp-and-slow wave complexes) was
found in 80% (n = 16) of observations, generalized activity - 20% (n = 4). Before the treatment
changing, 40% (n = 8) of patients received combination with valproic acid and carbamazepine, 20% (n
= 4) - lamotrigine, 20% (n = 4) - levetiracetam, 20% (n = 4) - topiramate (without decrease in the
frequency of seizures by more than 50%). After the treatment changing, 60% (n = 12) of patients
received polytherapy with valproic acid and perampanel, 20% (n = 4) - levetiracetam and
perampanel, 20% (n = 4) - topiramate and perampanel (with decrease in the frequency of seizures by
more than 75%).
21
FACTORS INFLUENCING THE GROSS MOTOR OUTCOME OF
INTENSIVE THERAPY IN CHILDREN WITH CEREBRAL PALSY AND
DEVELOPMENTAL DELAY
Hong B., Jo L., Kim J., Lim S.
Department Of Rehabilitation Medicine, St. Vincent’S Hospital, College Of Medicine, The Catholic University
Of Korea, Suwon, Republic Of Korea
AIMS: : Many physicians and parents of children with developmental delay expect some effect of
intensive rehabilitative treatment, though the evidence of intensive intervention is not well
established. Indications of intensive therapy and factors that can have an influence on therapeutic
effect are also not well known yet. The aim of this study is to find out the factors that influence the
short term effect of intensive therapy on gross motor function in children with developmental delay.
METHODS: Retrospectively 103 patients were reviewed and total GMFM-88 score percentage was
analyzed.
RESULTS: Mean age was 31.09±14.53 months (5 months-65 months) old and 51 children were boys.
Eighty children were diagnosed as cerebral palsy (CP), 11 patients had genetic abnormality, and 12
patients had developmental delay of unknown origin. The GMFM score percentage was significantly
increased as 4.67±3.93 after 8 weeks of intensive therapy (P=0.000). GMFCS level (GMFCS level 1-2
compared to GMFCS level 4-5, OR=7.763, 95% confidence interval=2.177-27.682, P=0.002) was the
significant factor to good response and for poor response, older age (≥ 36 months, OR=2.737, 95%
confidence interval=1.003-7.471, P=0.049) and GMFCS level (GMFC level 1-2 compared to GMFCS
level 4-5, OR=0.189, 95% confidence interval=0.057-0.630, P=0.007; GMFCS level 3 compared to
GMFCS level 4-5, OR=0.095, 95% confidence interval=0.011-0.785, P=0.029) was significant
influencing factors.
CONCLUSION: GMFCS level was the most prognostic factor for gross motor effect of 8 weeks of
intensive rehabilitation therapy in children with cerebral palsy or developmental delay due to
miscellaneous causes. And children at or more than 36 months were prone to poor outcome.
22
FEBRILE SEIZURES RISK FACTORS AND THEIR ROLE ON RECIDIVISM
- OUR CLINICAL EXPERIENCE
Vuçitërna A.1, Bejiqi R.1, Azemi M.1, Retkoceri R.1, Zeka N.1, Gerguri A.1, Nimani V.1, Aliu F.1, Sadiku A.2
1
University Clinical Centre, Pediatric Clinic, Pristina, Kosovo
Meditech Company, Pristina, Kosovo
2
INTRODUCTION: Febrile seizures are the most common neurological disorders in childhood, based
on their clinical overview they are very similar to epileptic seizures and are more manifested
between ages 6 months old and 5 years, during infections that do not affect the central nervous
system. Most common factors that influence the first seizure are: high fever, positive family
anamnesis, febrile seizures in the first and second family generation, delayed psychomotor
development, daycare, perinatal diseases. From all the above mentioned risk factors, high fever and
positive familiar anamnesis are the most common causes of febrile seizures. Purpose of study: is the
analysis of risk factors presence at first febrile seizure and meanwhile their follow up on recurrence.
METHODS AND MATERIALS: retrospectively are analyzed all children with febrile seizures that were
treated in Pediatric Clinic at the Neuropediatric department, University Clinical Centre of Kosova,
during periods May 2015 until April 2016. At respondents were analyzed (parents of children with
febrile seizures), child age, gender, when did the seizure started, when did the first seizure happen,
duration of attack and presence of any of the risk factors during the first attack and average body
temperature during the seizure was estimated.
RESULTS: 100 children of ages 6 months old to 5 years old were on our group of study, most of them
had only one seizure (68%), with two attacks (18%), three attacks (10%), with four and more attacks
only (4%). Both risk factors were present at 25% of cases, 65% had only one of the two risk factors
mentioned (55% had high fever), 10 patients had positive familiar anamnesis on febrile seizures, 10%
of patients had none of the risk factors mentioned. Average body temperature was 38.8°C, and from
all these cases 25% had recurrence of febrile seizures.
CONCLUSION: Febrile seizures are most common form of neurological seizures in children, Factors
that enhance the risk of febrile seizures are long lasting seizures, recurrent seizures, start of the
attack on the first year of age, child mental retardation and the positive familiar anamnesis for
epileptic disease.
23
FUNCTIONAL OUTCOME OF CHILDREN AFTER NEONATAL
SEIZURES
Soltirovska Salamon A.1, Kodric J.2, Radez J.3, Paro-Panjan D.1
1
Division Of Pediatrics, Department Of Neonatology, University Medical Centre Ljubljana, Ljubljana, Slovenia
Division Of Pediatrics, Department Of Neurology, University Medical Centre, Ljubljana, Slovenia
3
General Hospital, Novo mesto, Slovenia
2
INTRODUCTION: Although mortality rates have been reduced, the morbidity rate after neonatal
seizures (NS) remains high, with permanent neurological disorder being a frequent sequela. While
the neurological outcome in children with NS is a relatively common subject of studies, the
comprehensive and long-term functional outcome has not yet been studied.
METHODS: 80 children born between 1999 and 2009 who had clinical and/or
electroencephalographic seizures were included in single centre study. At the age of 5-15 years using
three questionnaires [SDQ, PedsQL, and questionnaire on the child], we assessed neurological
outcome, the presence of emotional and behavioural symptoms, and the quality of life.
RESULTS: based on the parent’s report 51 % of children out of 80 have a normal neurological
outcome. 13 (16 %) have a post neonatal epilepsy (PNE), 16 (20 %) cerebral palsy, 17 (21 %) mental
developmental disorder, 7 (9 %) visual and 4 (5 %) hearing impairment. Children with NS differ
significantly in psychosocial characteristics from the normative group as 35% have significant
emotional and behaviour difficulties with a Total Difficulties score failing in the abnormal and
borderline range. Children with PNE also differ significantly from the group of healthy children, as
they have more emotional and behavioural symptoms, in particular attention disorders and
hyperactivity (p<0.01), and a lower quality of life due to poor social functioning (p<0.01). The quality
of life in children with NS depends on the presence of emotional and behavioural symptoms, on their
gestational age, and on the enforcement of the placement of children with special needs act.
CONCLUSION: The long-term study on the impact of seizures in the neonatal period offers an insight
into the vulnerability of the immature brain, and an opportunity for the identification of long-term
consequences of injuries which act during brain development.
24
GENETIC FEATURES OF JUVENILE MYOCLONIC EPILEPSY IN
GEORGIAN POPULATION
Lazariashvili M., Kasradze S.
Institute Of Neurology And Neuropsychology, Tbilisi, Georgia
BACKGROUND: Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epileptic syndrome
characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes absence
seizures. JME is relatively common and responds well to treatment with appropriate anticonvulsants.
Both males and females are affected and slightly predominance in young women is seen. Dissenting
peculiarity of JME is the strong genetic predisposition that is still remains unknown among Georgian
population with epilepsy. Purpose: To evaluate genetic features and affected family members of
people with JME diagnosed in single tertiary epilepsy centre in Tbilisi, Georgia. Patients and
METHODS: People diagnosed as JME were surveyed through the adapted Georgian version of
'Questionnaire for Assessment of the Subjective Handicap of Epilepsy' (SHE); clinical and genealogic
data were collected from their Family members of first and second order relatives as well. Twelve
probands with JME, three males /nine females, and their 210 relatives in total were surveyed.
RESULTS: Myoclonic seizures only were detected in four persons with JME, myoclonias with
generalized tonic–clonic seizures on awakening (GTCSA) were revealed in eight cases. The oneset age
of seizures was between 10 – 19 years (MD= 15 years). Out of twelve persons with JME three
probands (25%) of epilepsy were revealed. Among all relatives febrile seizures were detected in three
(1.5%) and epileptic seizures in six people (3%). Out of family members of one of the JME patient JME
was revealed in another sister as well; focal seizures were diagnosed in father, in son and in cousin;
febrile seizures in other son and in the same cousin as well. Focal epilepsy was revealed in aunt and
grandfather from the father side of second proband person with JME. Out of third proband the sister
of patient with JME had juvenile absence epilepsy.
CONCLUSION: There is the high genetic predisposition and heterogeneity of epilepsy seizure in
people with JME living in Georgia, which requires further investigations according to more numerous
data.
25
HOW MUCH DO WE READ TO OUR CHILDREN
Radonić M., Stričević I.
County Hospital Dubrovnik, Pediatric Dpt, Croatia, University Of Zadar, Zadar, Croatia
BACKGROUND AND AIMS: : Reading aloud to young children promotes emergent literacy, language
development, a love for reading, supports the relationship between child and parent and stimulates
child socio-emotional development. When parents hold positive attitude towards reading, they are
more likely to create opportunities for their children that promote positive attitudes towards literacy,
they can also promote children's understanding of the world, their social skills, and their abillity to
learning coping strategies. When this message is supported by pediatricians during well child care
and parents are given a tool, in this case a 'book', the impact can be even greater. The role of the
librarians is to select age appropriate books. As literacy is one of the basic competences influences
health, promoting literacy should be a key part of practicing preventive medicine a an integral
component of health promotion for children.
METHODS: survay was done in the period April/May 2014 in 12 Croatian towns/Pediatric
departments in county hospitals and at outpatient clinics. Questionaire with 18 questions was
delivered and 1096 parents responded. Children were age from birth to 6 years; 0-12 months 168
children ( 15,3% ), 1-3 years 397 children ( 36,2% ), 3-6 years 528 children ( 48,2% ).
RESULTS: Reading to children is fourth favourite activity, 9,1% parents like to read to children; 4,4%
of parents think reading to children is children's favourite activity. 37% of parents read to their
children every day. Reading before going to bed is less common in the youngest age group ( 0-12
months): only 2% of parents read to children in this age group. Reading as an activity related to
future school success - 36% of parents think early reading matters. 66 % of children visit their doctors
1-5 times in the last year and 28% has 6-10 visits to their pediatricians. Overall library membership is
low, 13% in the age group 0-12 months, 10% in 1-3 years, 23% in 3-6 years. There are almost no
children without having any book. 6% of parents reported librarians supported them in reading.
60% of parents said that their pediatricians haven't supported them in reading.
CONCLUSION: Parents still don't have a positive attitude to reading to their children regardless of age
of children. Reading aloud is not parents favourite activity with their children, and reading together
with parents is also not a favourite children' s activity. Parents are not aware enough about reading
to children as an activity realted to future school achivements. Pediatricians are not aware enough
about their possible role in the literacy promotion.
26
INHERITED THROMBOPHILIA POLYMORPHISMS ASSOCIATED
WITH ELEVATED LIPOPROTEIN (A) LEVELS IN PEDIATRIC ARTERIAL
ISCHEMIC STROKE
Coen Herak D.2, Ceri A.1, Lenicek Krleza J.3, Radic Antolic M.2, Horvat I.2, Milos M.2, Djuranovic V.3,
Zadro R.1,2
1
Faculty Of Pharmacy And Biochemistry, Zagreb, Croatia
University Hospital Centre Zagreb, Zagreb, Croatia
3
Children's Hospital, Zagreb, Croatia
2
INTRODUCTION: Pediatric arterial ischemic stroke (AIS) is a relatively rare disease with multifactorial
etiology, increasingly recognized as an important cause of childhood disability and lifelong morbidity.
Although elevated lipoprotein (a) (Lp(a)) has been identified as a risk factor for pediatric AIS,
available data for perinatal AIS are limited. This prompted us to investigate if elevated Lp(a) (> 0.3
g/L) levels are more frequently associated with: a) perinatal or childhood AIS, b) specific inherited
thrombophilia polymorphisms.
MATERIAL AND METHODS: Lp(a) concentration was determined in 70 children (29 girls, 41 boys)
with perinatal (n=32) and childhood AIS (n=38) using a latex immunoturbidimetric assay Tina-quant
Lipoprotein (a) on Cobas c501 (Roche Diagnostics, Switzerland). Genotype analysis of 11
polymorphisms (FV Leiden, FV HR2, FII G20210A, β-fibrinogen -455G>A, FXIII-A Val34Leu, PAI-1
4G/5G, HPA-1, MTHFR C677T, MTHFR A1298C, ACE I/D, apoE ε2-4) was performed using a multilocus
CVD Strip assay (ViennaLab, Austria).
RESULTS: Elevated Lp(a) levels (median: 0.58 g/L, range: 0.35-1.92 g/L) were identified in 18/70
(25.7%) children. The majority of them (14/18) had childhood AIS (median: 0.62 g/L, range: 0.35-1.92
g/L) compared to only 4 perinatal AIS cases (median: 0.46 g/L, range: 0.35-0.96 g/L), resulting in
statistical significance (P=0.028). In children with perinatal AIS, elevated Lp(a) levels were
significantly associated with MTHFR 1298CC genotype (P=0.012). Apo ε2ε3 genotype was more
frequently found in children with elevated Lp(a) levels (5/18 compared to 5/52), both in childhood
and perinatal AIS. In contrast, apo ε3ε4 genotype was more frequently detected in children with
normal Lp(a) levels (9/52 compared to 1/18). FV Leiden heterozigosity was identified in children with
normal Lp(a) (7/52), only.
CONCLUSION: This study revealed that elevated Lp(a) levels were more frequently associated with
childhood AIS and that two specific polymorphisms, MTHFR 1298CC for perinatal stroke and apo
ε2ε3 for pediatric stroke, were more frequently linked to elevated Lp(a).
27
INTRATHECAL IMMUNOGLOBULIN G SYNTHESIS AND BLOODBRAIN BARRIER PERMEABILITY STATE IN THE GENESIS OF
RESISTANT FORMS OF EPILEPSY IN CHILDREN
Yevtushenko S.1, Yevtushenko O.1, Yevtushenko I.2
1
Regional Children'S Neurorehabilitation Center, Donetsk, Ukraine
V.K. Gusac Institute Of Urgent And Reparative Surgery, Kiev, Ukraine
2
BACKGROUND: According to previous studies 20-30 % of epileptic patient have a drug-resistant form
of epilepsy. The aim of this study was to determine the association between blood-brain barrier
(BBB) permeability, immune status and drug-resistant epilepsy severity.
METHODS: 64 children with different resistant forms of epilepsy were enrolled in this study.
Intrathecal synthesis of IgG, immunogram and basic CSF parameters were analyzed.
RESULTS: Children with resistant epilepsy had lower levels of CD3, CD4, CD8, IgG and increased CD95
+ lymphocytes in the blood, compared to healthy individuals and children with controlled epilepsy.
65.6% of children with resistant epilepsy had increased permeability of the BBB, in 40.6% patients
high intrathecal IgG synthesis was determined, 42.2% patients had increased levels of IgG in CSF. CSF
parameters (albumin index, index of intrathecal synthesis and levels of IgG) showed a positive
correlation to blood CD95+ lymphocytes count. Intravenous immunoglobulin (IVIg) was administered
at a dose of 0.4 g/kg infusion 3-5 times once a day. The average efficiency (by reducing the HASS
score) of IVIg + anticonvulsant therapy was 67,2 ± 6,5%, in patients received only anticonvulsant
therapy - 47,9 ± 5,1% (p=0.006). The proportion of responders to the complex therapy was 65.7%,
and to only anticonvulsant therapy - 37.9% (p<0.05).
CONCLUSION: The presence of malignant epileptic syndrome in early age, increased CD95+
lymphocytes, increased permeability of the BBB and intrathecal IgG synthesis associated with lower
chances of remission and decrease of the therapy effectiveness. IVIg may be effective in treatment of
drug-resistant forms of epilepsy.
28
METABOLIC DISORDERS IN SEVERE CASES OF AUTISM SPECTRUM
DISORDER IN EUROPEAN AND SOUTH AMERICAN FAMILIES
Colombo V.1, Coduti A.2, Bonatti M.3, Baldi D.3
1
Asst Bergamo Ovest, Romano Di Lombardia (Bergamo), Italy
School Of Concorezzo, Concorezzo, Italy
3
ASST Milan City, Milan, Italy
2
INTRODUCTION: ASD families appear to have underlying metabolic conditions, especially in cases of
members affected by epilepsy and/or neurodegenerative evolution. In literature, treatment-resistant
epilepsy appears to have a higher prevalence in patients with ASD (ASDs). Worsing neuromuscolar
conditions induce to think about metabolic disorders such as mitochondrial diseases and
abnormalities in cerebral folate metabolism in many ASDs. While disorders of galattosemia, creatine,
cholesterol, pyridoxine, biotin, carnitine, γ-aminobutyric acid, purine, pyrimidine, and amino acid
metabolism and/or urea cycle disorders may be associated with some ASDs.
MATERIAL AND METHODS: 10 European and South American families come to attention into our
office for a revaluation of diagnosis during a worse condition of behavior and medical complications.
We need to do an analysis of clinical history, medical examination, blood test and nutritional
evaluation to analysis these data in some International Data Base of Human Genetic Gene and
understand the etiology and underling metabolic condition.
RESULTS: In 75% of these case we haven’t metabolic blood evaluation until adolescent or adult age
and only in the 25% of these case we have a known mutation with a unknown metabolic correlation.
After blood tests we discuss in a multidisciplinary medical group and make a research in different
Human Genetic Data Base to correlate these biochimical, metabolic, enzimatic and genetic data.
CONCLUSION: In our families, we find cases of diseases from glucose and galattosio, leucodystrophy,
mitocondrial disorders and urea cycle disorders in adult and adolescent patients with epilepsy,
suggesting that current antiepileptic treatments or nutritional intervention may be suboptimal in
controlling seizures or evolution of metabolic disorder. So without a Metabolic Screening Program
Expanded (MSPE) we can do a correct diagnosis just late, when the signs of disease appear and the
treatment isn’t more efficace. For this reason, we suggest a MSPE and a revaluation of ASD
managment in European and South American populations.
29
METABOLOMICS AS A NEW PLATFORM FOR STUDIES OF STEM
CELLS
Maletic-Savc M.
Jan And Dan Duncan Neurological Research Institute At Texas Children'S Hospital, Baylor College Of
Medicine, Houston, United States
Stem cells are the foundation of all multi-cellular organisms. They have the ability to self-renew,
maintain pluripotency, and differentiate to specific cellular lineages. Thus, they have provided a new
hope for the field of regenerative medicine, as possible novel therapeutic agents for treating cancer,
diabetes, cardiovascular and neurodegenerative diseases. Central to developing these strategies is
improving our understanding of biological mechanisms responsible for governing stem cell fate and
self-renewal. Many factors, from transcriptional signaling to epigenetics, have been shown to
contribute to fate determination; in addition, increasing attention is being given to the role of
metabolism as a regulator of stem cell fate. Rapid advances in the field of metabolomics now allow
for in-depth profiling of stem cells both in vitro and in vivo, providing a systems perspective on key
metabolic and molecular pathways which influence stem cell biology. With new advancements in
technology, we are now able to probe stem cell metabolism like never before, leading to discoveries
that are reshaping our traditional ideas regarding the role of metabolism in stem cell biology.
30
NEURODEVELOPMENTAL OUTCOME IN CHILDREN WITH
UMBILICAL CORD ANOMALY IN THE AGE OF SEVEN
Karabeg E.1, Karabeg E.1, Karabeg A.3, Rešić B.2, Jelovina I.4
1
Opća Bolnica Sanski Most, Sanski Most, Bosnia And Herzegovina
Medicinski Fakultet Sveučilišta U Splitu, Split, Croatia
3
Ilmtalklinik GmbH Krankenhaus Pfaffenhofen, Krankenhausstraße, Germany
4
Medicinski fakultet Sveučilišta u Splitu, Split, Croatia
2
SUMMARY: The objective is to examine the neurodevelopmental outcome of children in the age of
seven with an isolated anomaly cord (cord strangulation around the neck of one or more times).
METHODS: The study was conducted from 2005 to 2013 in the US Canton, Bosnia and Herzegovina.
A group of 119 term neonates with umbilical cord pathology (isolated cord strangulation around the
neck one or more times) was subjected to neurodevelopmental observation. The control group
consists of newborns who were not affected with any umbilical cord pathology at birth. All of these
pregnancies developed regularly without any complications. The umbilical cord anomaly – cord
strangulation around the neck (one or more times) is diagnosedat birth by the gynecologist. The
prospective multidisciplinary follow up of children's neurodevelopment in both groups up to the age
of seven has been conducted. Neurodevelopmental outcome was assessed by neurological
examination, psychological testing, examination of sight, hearing, speechand by EEG.
Neurodevelopmental outcomes in both groups were subsequently compared.
RESULTS: Neurodevelopmental outcome at the age of seven was normal in 83 children (69.7 %) with
umbilical cord pathology, 8 of them (6.7 %) had cerebral palsy, minimal neurological dysfunction 28
(23.5%), visual impairment 18 (15.1 %), hearing impairment 11 (9.2 %), speech impairment 32 (26.9
%), epilepsy 15 (12.6 %). In the control group of children without pathology of the umbilical cord 117
(98.3 %) had a normal neurodevelopmental outcome, 1 (0.8 %) child had cerebral palsy, minimal
neurological dysfunction 1 (0.8 %), visual impairment 11 (9.2%), hearing impairment 0 (0 %), speech
impairment 16 (13.4 %), epilepsy 1 (0.8 %).
CONCLUSION: Divergence in the incidence of neurodevelopmental outcome in children with
anomalies of the umbilical cord in relation to the group of children with no abnormalities are
statistically significant (p=0,001). Early detection of umbilical cord pathology (isolated cord
strangulation around the neck of one or more times) is essential in order to improve
neurodevelopmental outcome in children. Timely involvement in habilitation treatment allows better
neurodevelopmental outcome.
31
NEURO-DEVELOPMENTAL OUTCOME OF SURVIVORS OF SEVERE
NEONATAL INFECTIONS IN KENYA
George S.1, 2, Seale A.2,3, Berkley J.2,3, Neville B.1, Newton C.1,2,3
1
University College London, London, United Kingdom
Kemri Wellcome Trust Collaborative Research Programme, Nairobi, Kenya
3
Oxford University, Oxford, United Kingdom
2
INTRODUCTION: Serious neonatal infections including pneumonia, sepsis and meningitis account for
a third of neonatal deaths around the world. However data on neuro-developmental impairment
after neonatal infection, particularly following clinical diagnosis of possible serious bacterial infection
(pSBI) used to guide empiric treatment are lacking.
METHODOLOGY: This prospective study included 102 children born in a rural hospital in Kenya who
survived neonatal pSBI (excluding those with confirmed meningitis) and 94 well neonates born in the
same hospital. Children had neurodevelopmental assessments (including vision, hearing & motor
impairment and epilepsy) at between 18 to 36 months. Odds of developing impairment were
compared between the two groups using penalised multiple logistic regression. These comparisons
were adjusted for birth weight, gestational age, clinical diagnosis of hypoxic-ischaemic
encephalopathy and bacteraemia.
RESULTS: There was a high mortality (17.1%) within neonatal period among those who were
admitted with pSBI. Survivors of neonatal pSBI had a higher risk of developing neurodevelopmental
impairment (18/102, 17.6%; Odds ratio (OR) 1.78, 95% confidence interval (CI) 1.60- 1.99) compared
to those without pSBI (5/94, 5.3%). Speech and language (13/102, 12.7% vs 3/94, 3.2%; OR 1.41,
95%CI 1.29- 1.56) and neuro-motor domains (11/102, 10.8% vs 4/94, 4.3%; OR 1.38, 95%CI 1.221.58) were most commonly affected domains. Those who were exposed had a significantly higher
risk of developing epilepsy (3/102, 2.9% vs 0/94; OR 1.83, 95%CI 1.56- 2.19).
CONCLUSION: Neonatal pSBI (excluding cases of confirmed meningitis) caused significant
neurodevelopmental impairment in children after adjusting for confirmed bacteraemia. This has
important implications for improving prevention, supporting effective neonatal care and managing
the long-term consequences of neonatal infection in resource-poor settings.
32
NEUROGENIC BLADDER IN INFANTS AND CHILDREN WITH
MYELOMENINGOCELE
Kasprowicz B., Harasymczuk J., Kroll P.
Pediatric Surgery And Urology Department, Poznań University Of Medical Sciences, Poznań, Poland
Myelomeningocele is the most common etiology of neurogenic bladder in children. To prepare this
systematic review bibliographic search was done selecting published works from the last years.
Neurogenic bladder is a big problem for children and their families. Neurogenic bladder influence
children's functioning, their self-esteem, their and their families' quality of life. Current treatment of
neurogenic bladder in children is based on Clean Intermittent Catheterization, anticholinergic agents
or on surgical procedures. Although there are many treatment methods, there are still many
questions and doubts. What about infants with neurogenic bladder? What is more beneficial in
infancy: early prophylactic treatment or 'watchful waiting and treatment as needed'? How early
should we start the treatment? There is growing evidence that management decisions made during
infancy impact long-term outcomes for safe urinary continence and renal function. In 2002 SchulteBaukloh and al. published the first description of the use of botulinum toxin in the treatment of
neurogenic bladder in children. From that time there is increasing evidence about the efficacy and
safety of onabotulinum A. The efficacy of botulinum toxin in treating children with neurogenic
bladder secondary to myelomeningocele ranging from 65 to 85%. Although success of botulinum
neurotoxin in urologic use rates, therapy may fail and cases of resistance to the toxin are described.
Are antybodies against botulinum toxin the cause of therapy failure? Children with
myelomeningocele and neurogenic bladder require longterm urological care, need multidisciplinary
team care and vigilant follow-up throughout their life. Management of neurogenic bladder is not only
limited to urological considerations. The cooperation between the different specialities is needed to
increase the quality of life in children with myelomeningocele. What can we do as multidisciplinary
medical team to improve bladders function as well as children's functioning and quality of life?
33
NEUROLOGICAL BASICS OF EMOTIONAL DEVELOPMENT OF
INFANTS
Rešić B., Jelovina I., Rešić Karara J.
Clinical Hospital Center, Gynecological And Obstretic Clinic, Split, Croatia
Structural maturation of the brain in infancy basically represents the ontogenetic development of
multiple autoregulation functional systems. The development of emotions can be understood only in
the context of integration of neurobiological and structural changes of the brain. Postnatal period is a
time of rapid and significant growth of the brain during which the basics of neurodevelopmental
capacities are developed. Thus the basis for subsequent psychological and emotional personality
structure is formed. During this critical period of early maturing the brain is extremely sensitive to
environmental stimuli that might affect its structural and neurochemical development. The
interaction between the infant and his mother, as well as some traumatic events, can induce a
cascade of neurochemical and neurobiological processes responsible for the growth and
differentiation of corticolimbic structures responsible for self-regulation. These influences shape
neurological, psychological and social development and have enormous lifelong consequences. The
critical period of brain maturation is the time of increased vulnerability, which also presents great
possibility for brain recovery or plasticity of the brain influenced by external factors. The
aforementioned facts have found their implementation in clinical practice with the introduction of
early treatment of emotional disorders. This paper gives an overview of the normal development of
brain structures responsible for emotions and affection, the consequences of positive and negative
environmental influences that modulate these processes and the ways in which negative processes
can be stopped and repaired.
34
NEUROMYELITIS OPTICA IN CHILDREN. CLINICAL FEATURES AND
TREATMENT EFFICACY
Bembeeva R.1, Volkova E.2, Bologov A.2, Zavadenko N.1, Pilia S.2, Bembeeva A.1
1
Russian National Research Medical University Named After N.I.Pirogov, Moscow, Russian Federation
Russian Children'S Clinical Hospital, Moscow, Russian Federation
2
Neuromyelitis Optica (NMO) – demyelinating disease of central nervous system with severe episodes
of optic neuritis (ON) and transverse myelitis (TM). Although new methods of diagnostic and
treatment have been presented, NMO remains potentially life threatening and requires short-term
and following long-term immunosuppressive therapy.
AIM: Identification of clinical features of NMO in children and estimating treatment effects. Patients
and
METHODS: This clinical study involves 8 children aged between 4 and 13 years. The diagnosis was
made using Wingerchuk criteria for NMO (2010, 2014). Serum samples from all patients were tested
for anti-AQP4 IgG. Immunophenotyping of peripheral blood and CSF lymphocytes, brain and spinal
cord MRI (1,5T) were performed for all patients.
RESULTS: Sex ratio (F/M) is 1:3. The age of onset ranges from 4 y.o. to 13 y.o. (the median age at
onset - 8,3±1,4). One case is familial (father of a patient had NMO). Disease duration varies from 3 to
7 years (average duration is 4,8 years). NMO was recurrent in 100%. First episode: unilateral ON – 2
patients (25%), bilateral ON – 2 patients (25%), TM – 3 (37,5%), brainstem syndrome (area postrema
involvement: hiccups, nausea, vomiting) -1 (12,5 %). Second episode occurred after 2,85 months ±1,6
(1,5-7 months). NMO-IgG in all patients was seropositive. In CSF: pleocytosis (predominantly
lymphocytic: 6/мм3 - 153/мм3; protein level: 0,045 g/l - 1,0 g/l). Spinal cord MRI (at the onset):
Longitudinal extensive lesions with involvement of 5 and more segments, 'Bright spotty lesions'
(inhomogeneous contrast enhancement). Brain MRI: involvement of brainstem at onset in a single
case (12,5%), in other cases during the development of the disease were involved: corpus callosum –
2 (25%), brainstem -1 (17%). Treatment: pulse-therapy with metypred, IVIG, plasmapheresis for
acute relapse. As a second-line therapy 7 patients (83%) received Mabthera (Rituximab). Remission
was observed throughout the period of Rituximab effect (8-12 months) and confirmed by the results
of MRI method with contrast and ELISA of blood serum and CSF. CONCLUSION: Performing tests for
anti-AQP4 antibodies is necessary in cases with clinically isolated onset (ON, TM, brainstem
syndrome: hiccups, nausea, vomiting). Rituximab usage in children with NMO allows to achieve
positive clinical respond in a short time.
35
NEWBORN SCREENING FOR X-LINKED ADRENOLEUKODYSTROPHY
(ALD)
Moser A.1, Raymond G.2, Fatemi A.1
1
Kennedy Krieger Institute, Baltimore, United States
Minneapolis Children'S Hospital, Minneapolis, United States
2
Every 36 hours a baby in the U.S. is born with ALD or adrenoleukodystrophy, a treatable genetic
disease that is unnecessarily debilitating or fatal. It strikes one in 17,000 people, most severely boys.
If identified early adrenal insufficiency can be treated to prevent loss of life to an Addisonian crisis.
Boys can be followed by a pediatric neurologist so that with MRI every 6 months, early brain disease
can be detected and life- saving bone marrow transplantation or gene therapy can be given.
Lorenzo’s oil diet therapy has been expanded to include all ALD boys between the ages of 12 months
and 18 years. The New York State instituted ALD newborn screening at the end of December 2013. At
the end of December 2015, for 469,585 babies screened, there were 16 males with ALD, 19 female
ALD carriers and 7 with peroxisomal biogenesis disorders (Zellweger spectrum disorders). In the first
two years of screening, New York paid less than $2.50 per newborn to add ALD to their newborn
screening panel. In February 2016 the US Secretary of Human Health and Human Services signed the
recommendation to add ALD newborn screening to the uniform panel of disorders screened in the
newborn period in all states in the US. California, Connecticut, and New Jersey had legislation in
place to add ALD to their newborn screening panel once it was approved nationally. Other states will
soon follow. The Secretary of Health in the Netherlands has approved ALD newborn screening for all
male babies. The screening in the Netherlands will begin as soon as the method has been added and
validated. We present the current ALD newborn screening statistics and also the follow-up
recommendations for all babies identified with ALD through newborn screening.
36
OBJECTIFICATION OF EFFECTIVENESS OF MESENCHYMAL STEM
CELLS APPLICATION IN PATIENTS WITH CEREBRAL PALSY USING
COMPUTER VIDEO ANALYSIS OF GAIT
Shalkevich L.1, Aleynikova O.2, Drohaitseva D.1, Isaykina Y.2, Yakovlev A.3, Gushchina L.2
1
Belarusian Medical Academy Of Post-Graduate Education, Minsk, Republic Of Belarus
Belarusian Research Center For Pediatric Oncology, Hematology And Immunology, Minsk, Republic of
Belarus
3
Minsk City Centre of Medical Rehabilitation of children with neuropsychiatric diseases, Minsk, Republic of
Belarus
2
OBJECTIVE: Cerebral Palsy is a complex motor disorder resulting from central nervous system
damage during perinatal period, often associated with mental retardation, hearing, vision or speech
impairment and seizures. Usual therapies are symptomatic without affecting the etiology of the
disease which is neuronal damage. Mesenchymal stem cells (MSCs) are able to substitute damaged
neurons and oligodendrocytes, to restore neuronal connections improving motor activity and social
adaptation of patient. As a rule, the methods of assessing the results of rehabilitation actions
(cellular therapy, botulinum toxin treatment and etc.) are subjective. The instrumental assessment
method including computer video analysis of gait, allows to objectify the data.
METHOD: The object of our study are 5 patients diagnosed with CP, 1-2 stage of severity, spastic
form, in the age of 5-8 at the moment of being chosen for study who had not had seizures at least for
a year (or not at all) before including into study and who did not have any orthopeadic pathology.
Before and after the two-stage allogeneic MSCs transplantation with the introduction of
undifferentiated MSCs via intravenous infusion and intrathecal introduction of neuroinduced MSCs
computer video analysis of patient's gait was performed for all of them. Control group consisted of 7
patients with identical neurologic disorders who were treated with rehabilitation course without
MSCs transplantation. To estimate the effectiveness of rehabilitation we used machine control
method - computer video analysis of gait on machine-program complex 'Neuro-CM' with 'Startrace'
software.
RESULTS: As the main criteria for comparison of major and control group results there was taken the
index of relative duration of one-support period on duration of period of support in % before and
after treatment course. Its increase is a sign of improvement of patient's statokinetic steadiness. The
analysis of results discovered that in major group duration of one-support period before MSCs was
23.1%-55.5% (average 36.5%) of duration of period of support. After MSCs transplantation and
rehabilitation course this index was 58.3%-75.0% (average 68.0%), i.e. increased by average 31.5%. In
control group duration of one-support period before rehabilitation was 31.6%-45.5% (average 39.4%)
of duration of period of support. After rehabilotation course in this group the index was 44.9%-70.1%
(average 55.1%), i.e. increased by average 15.7%.
CONCLUSION: The results give the evidence that the computer video analysis of gait as an objective
method of monitoring the treatment effectiveness allows to quantitatively calculate the change in
statokinetic sustainability of patients after transplantation of MSC, and objectively evaluate the
results of treatment in patients with cerebral palsy.
37
PROGRESSIVE SENSORINEURAL DEAFNESS AND PERIPHERAL
NEUROPATHY DUE TO PTRH2 GENE MUTATION
Mahajnah M.1, Azem A.2, Zelnik N.3, Sharkia R.4
1
Hille Yaffe Medical CenterHaderaIsraelRuth And Bruce Rappaport Faculty Of Medicine, TechnionHaifa,
Israel, Hadera, Israel
2
Department Of Biochemistry And Molecular Biology, Faculty Of Life Sciences, Tel-Aviv University, Tel-Aviv,
Israel
3
Rappaport Faculty of Medicine, Technion, Haifa, Israel
4
The Triangle Regional Research and Development Center, Kfar Qari', Israel
INTRODUCTION: Pth2 is an evolutionarily highly conserved mitochondrial protein that belongs to a
family of peptidyl tRNA hydrolases. It prevents the accumulation of prematurely dissociated peptidyltRNA, which could inhibit protein synthesis and toxic to cells. Recently, two reports have described
families with biallelic variants in PTRH2, the gene encoding pth2. The first report two brothers with
global developmental delay, hypotonia, hyporeflexia, sensorineural hearing loss, ataxia, and clubfoot.
The other report described two affected siblings with progressive multisystem disease. The infants
were noted to have hip dislocation, hypotonia, brachycephaly, facial dysmorphism with midface
hypoplasia, hypertelorism, exotropia, thin upper lip, and deformities of the fingers and toes; the boy
had a shawl scrotum, postnatal microcephaly, failure to thrive with growth retardation, delayed
motor milestones, progressive ataxia, distal muscle weakness, contractures, demyelinating
sensorimotor neuropathy, and sensorineural deafness.
MATERIALS AND METHODS: Here, we report the third family with three siblings suffering from
demyelinating sensorimotor neuropathy, and sensorineural deafness. Genome-wide SNP microarray
analysis using the Affymetrix Genome-Wide SNP6.0 microarray was carried out on DNA from the
three affected individuals and the unaffected sibling.
RESULTS: A missense change within PTRH2 (c.254A>C; p.(Gln85Pro); NM_016077) was considered
most likely to be responsible for the phenotype. Sanger sequencing confirmed that the variant
segregated with the phenotype as the three affected daughters were homozygous for the variant
while the unaffected brother and the parents were carriers.
CONCLUSION: The clinical manifestations resemble those of the previously described cases, but
expand the clinical phenotype including not yet reported features such as, normal intelligencemild
microcephalus, female delayed puberty, myopia and mild to moderate insensitivity to pain. We
believe that because it is a new reported genetic disease with small number of patients it is
important to describe all new cases in order to characterize all the spectrum of the clinical
manifestations.
38
RADIOTHERAPY IN CHILDHOOD BRAIN TUMOURS
Zadravec Zaletel L.
Institute Of Oncology, Ljubljana, Slovenia
Brain tumors are the second most common type of cancer in children (21%) and the most common
solid tumors in children. They most commonly occur in children less than 4 years of age, the lowest
incidence is in the age range from 15 to 19 years. Histologically, brain tumors are heterogeneous
group of tumors, differing according to the level of malignancy. Children mostly suffer from glial
tumors of low malignancy rate (the most common is pilocytic astrocytoma) or highly malignant
embryonal tumors, gliomas of high malignancy grade are less frequent. The most common childhood
brain tumor (CBT) is medulloblastoma, which comprises 25 % of CBT. Astrocytomas constitute about
40-55% of all CBT, oligodendrogliomas and mixed gliomas about 10%, ependymomas 10% and
craniopharyngeomas about 5%. Other types of CBT, such as germ cell tumors, choroid plexus tumors,
meningeomas pineal tumors, neuronal tumors, are very rare. Method of treatment depends on the
type of tumor, its localization and child’s age. In low-grade CBT surgical treatment suffice. In high
grade malignant CBT radiotherapy plays very important role. Namely, in those patients after surgery
further treatment, radiotherapy and/or chemotherapy, is necessary. Patients are mostly treated with
local irradiation, where the target is potential residual tumor and tumor bed with a safe margin. The
applied dose depends on the type of tumor (40 to 60 Gy), localization of BT and child’s age. In CBTs,
which tend to disseminate to meninges (i.e. medulloblastoma, supratentorial PNET, sometimes germ
cell tumors,...) irradiation of the entire craniospinal axis with the dose in the range of 24 to 36 Gy is
necessary. In intracranial germinomas, ventricular system is irradiated as well. Chemotherapy with
agents crossing the blood-brain barrier, has improved survival in children with chemosensitive forms
of CBT (i.e. medulloblastoma). In young children, usually under the age of three, we are trying to
avoid irradiation with the use of extremely high doses of cytostatics and transplantation of
autologous peripheral blood progenitor cells. Namely, irradiation causes late sequelae including
cognitive decline especially when applied in very young age group. Late sequelae (endocrine,
neurocognitive, hearing, secondary malignancies…) in patients treated for CBT are frequent, that’s
why long-term follow up is needed for life.
39
RETT SYNDROME: BIOLOGICALLY BASED THERAPEUTIC
INTERVENTION AT KENNEDY KRIEGER INSTITUTE
Naidu S.1,2, Blue M.1, Vaurio R.1, Kratz L.1, Sanyal A.3, Yenokyan G.3, Smih Hicks C.1,2, Johnston M.1,2
1
Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, United States
Departments Of Neurology & Pediatrics Johns Hopkins University School Of Medicine, Baltimore, United
States
3
Johns Hopkins Bloomberg School of Public Health, Baltimore, United States
2
INTRODUCTION: Rett syndrome (RTT) is caused by mutations in the MECP2 gene. The resultant
microcephaly, intellectual disability, seizures and motor deterioration are attributed to poor synaptic
plasticity and a maturational arrest of neurons. The synaptic abnormalities in particular consist of a
marked increase in the number of brain NMDA glutamate receptors in RTT girls below 10 years of
age. In addition there is an elevated level of CSF glutamate during the active period of synaptic
overgrowth, and pruning in the developing brain. This increased expression of the excitatory
neurotransmitter glutamate and its NMDA receptor, is also demonstrated in the murine model of
this disease.
METHODS: Based on these observations we initiated a clinical trial after Institutional and parental
approval in 35 girls with MECP2 mutation positive RTT girls. They were below the age of 15yrs and
treated for a 6 month period with dextromethorphan. Dextromethorphan and its major metabolite,
dextrorphan, are potent noncompetitive antagonists of the NMDA receptor channel. This drug is
widely available for human consumption, even in children, as an antitussive agent because of its
affinity to NMDA channel binding sites. We used 3 different doses to determine safety and efficacy.
RESULTS: We noted improvement in socialization and receptive language on the highest dose that
reached significance and there were no adverse effects.
CONCLUSION: This attempt to improve the downstream consequence of the gene defect is possibly
effective in preventing neuroexcitotoxicity caused by increased NMDA receptors and glutamate. This
must be so especially during the most dynamic phase of brain development when synapses are
developing and being pruned in the Rett syndrome brain.
40
RISK FACTORS, CLINICAL AND RADIOLOGICAL FINDINGS IN
PERINATAL STROKE
Ilves P.1,2, Ilves N.1, Männamaa M.2, L?o S.4, Loorits D.2, Tomberg T.2, Juurmaa J.1, Kolk A.1,2, Talvik
I.1,2,5, Õiglane-Šlik E.1,2, Kahre T.1,2, Talvik T.1, Laugesaar R.1,2
1
Tartu University, Tartu, Estonia
Tartu University Hospital, Tartu, Estonia
3
University of Tallinn, Tallinn, Estonia
4
University of Helsinki and Helsinki University Hospital, Helsinki, Finland
5
Tallinn Children`s Hospital, Tallinn, Estonia
2
INTRODUCTION: Perinatal stroke is a leading cause of congenital hemiparesis, however, these
children may also have neurocognitive deficits, language impairment, behavioral disorders and
epilepsy. Perinatal ischemic stroke is a group of heterogeneous conditions involving focal disruption
of cerebral blood flow secondary to arterial or venous thrombosis or embolization. According to age
at diagnosis, perinatal stroke is further classified into antenatal, neonatal and presumed perinatal
stroke. Presumed perinatal stroke is diagnosed in an infant older than 28 days, without significant
neurological history during the neonatal period, presenting with neurological deficit and/or seizures
attributable to focal chronic infarction on neuroimaging. The aim of the study was to analyze
differences in the risk factors, clinical, radiological findings and outcome in patients with acute
ischemic stroke and periventricular venous infarction with neonatal or delayed presentation.
MATERIAL AND METHODS: The Estonian Pediatric Stroke Database contained the data of 80 children
with perinatal stroke collected on the basis of an epidemiological study (1994-2003) and
prospectively thereafter until 2016. All radiological images in Estonia are archived in a single allEstonian Picture Archiving System. Neurodevelopment of children was assessed by the Pediatric
Stroke Outcome Measurement and the Kaufman Assessment Battery. The clinical and radiological
data of 23 children with neonatal ischemic stroke and 44 infants with presumed perinatal stroke
from the Estonian Pediatric Stroke Database were retrospectively reviewed.
RESULTS: Among the children with neonatal stroke, 11 of the 13 term children had arterial ischemic
stroke and 9 of the 10 preterm children periventricular venous infarction. Among the children with
presumed perinatal stroke, periventricular venous infarction was identified in 59%, 90% of them born
at term. Only 11% of infants with presumed perinatal stroke had acute neurological symptoms after
birth, and all of them had arterial ischemic stroke. Infants with presumed perinatal stroke have
mostly periventricular venous infarction and are born at term with very subtle symptoms after birth.
A significant derangement in resting state network and lower cognitive functions (p<0.05) were
found in children with AIS compared to the controls and the PVI group.
CONCLUSION: Infants with presumed perinatal stroke have mostly periventricular venous infarction
and are born at term with very subtle symptoms after birth, probably have a prenatal origin of the
disease. Our findings demonstrate impairment in cognitive functions and changes in the neural
network profile in hemiparetic children with left-side AIS compared to children with left-side PVI and
controls. This study was financed by the Estonian Research Council (PUT 148, IUT3-3)
41
ROLE OF BALANCED DIET ON EPILEPTIC CHILDREN
Elmenabbawy M., Helal S., Zaki S., Sallam M., Said O., Aboismaiel L., Abdelmoneim M.
National Research Centre, Cairo, Egypt
AIM: study the effect of balanced diet on the cognition, growth, biochemical and
electroencephalogram changes among epileptic children and adolescents.
SUBJECTS & METHODS: this study was carried on 100 epileptic children and adolescents of both
sexes, their ages ranged between 11 -14 years, food consumption for all cases was calculated. All
cases were grouped into two groups, 50 cases were under special balanced diet program (group I)
and 50 cases were left on their regular diet (group II). All cases were subjected to complete clinical
and neurological examination, anthropometric assessment and behavior assessment. Biochemical
assessment for serum calcium, zinc, copper and hemoglobin were assessed. Electroencephalogram
was done for all cases at the start and by the end of the study.
RESULTS: showed a significant changes in psychometric behavior between both groups. Patients of
group II show highly significant decrease in levels of hemoglobin, copper, zinc and calcium, in
comparison to patients of group I. A highly significant increase in anthropometric measurements
among patients of group I, as compared to patients of group II. Regarding changes in
electroencephalogram there was an improvement in 22% of cases of group I as compared with group
II which showed an improvement in only 6% of cases.
CONCLUSION: Then we concluded that children and adolescents with epilepsy are often more
sensitive to the world around them than others, therefore it is important to ensure that their
nutrition is as well balanced as possible, for better life, improvement and efficacy for antiepileptic
drugs .
42
SPECIAL CHILDREN BECOMING SPECIAL ADULTS: ISSUES FOR
OPTIMAL ADULT LIVING
Wachtel L.
Md: Kennedy Krieger Institute, Baltimore, United States
AIMS: : To review the challenges associated with the transition to adulthood for individuals with
severe neurodevelopmental disability.
METHOD: Review of current trends and issues for adult living options in the US for the most impaired
clients, with multiple demonstrative case examples.
RESULTS: Early diagnosis and intervention in autism and other neurodevelopmental disability is
considered the gold-standard of care, and confers significant benefit in maximization of each child's
potential. Children identified with such disability are usually eligible from infancy for extensive
services through the healthcare system, and then benefit throughout childhood from variegated
service options within the public school systems and local communities. What happens after age 21
is far less clear, yet highly relevant given the growing number of children identified with autism and
other severe neurodevelopmental disability who are now entering adulthood. The situation becomes
further complicated for those young adults with significant medical, psychiatric and behavioral
concerns in addition to their baseline diagnoses, and optimal living situations that offer quality care,
safe supervision, meaningful engagement in community and occupational activities, maximal
inclusion and dignity while maintaining affordability are not easily identified. This is a hot-button
issue in the world of autism and developmental disability, with aging parents clamoring for optimal
care, whilst the current horizon contains many unclear and contested options.
CONCLUSION: Youth with significant neurodevelopmental disability benefit greatly from early
intervention and a wide range of services usually available during childhood. However, special
children invariably become special adults, and much work remains in identifying safe, meaningful and
financially viable living options as the child transitions away from the family home.
43
STRESS IN ADOLESCENCE MIGRAINE
Zaletel M.
University Clinical Center, Ljubljana, Slovenia
Migraine is a frequent condition in children, with a prevalence ranging from 3% in younger schoolage children to approximately 20% in older adolescents population. Stress is considered the major
contributor to migraine and tension-type headache in adolescents. Therefore, chronic stress, the
prolonged imbalance between situational requirements and the individual’s coping resources, has
been repeatedly found to be related with headaches in adolescents. In addition, the adolescence has
been characterized as a period of heightened sensitivity to social context. From neurologic point of
view the adolescence is a time of continued brain maturation, particularly in limbic and cortical
regions. The pathophysiology of migraine is not fully understood. Although the pain during a
migraine attack arises from activation of afferent neurons which innervate the intracranial
vasculature, the migraine attacks themselves are likely triggered by the central nervous system.
There is growing evidence that migraine pathophysiology may, in part, include dysfunction of
subcortical structures. These include diencephalic and brainstem nuclei that can modulate the
perception of activation of the trigeminovascular system, which carries sensory information from the
cranial vasculature to the brain. Dysfunction of these nuclei, and their connections to other key brain
centres, may contribute to the cascade of events that results in other symptoms of migraine. Just as
chronic restraint stress can significantly alter corticolimbic morphology, the social environment of the
adolescent has also been reported to affect the structure of the frontal cortex. In adults, the effects
of stress on hippocampal and prefrontal cortical dendritic morphology are largely reversible.
However, that stress-induced morphological alterations in the adolescent prefrontal cortex may be
longer lasting than those observed in adults. It has been suggested that stress can modify migraine in
many different ways. It is believed that stress can provoke the onset of clinically symptomatic
migraine, that it can act as a trigger for migraine attacks, and that it can amplify migraine attack
intensity and duration. stress may also be a risk factor for the development of chronic migraine.
Moreover, migraine itself can be a stressor, creating a vicious cycle. Regardless, this emerging body
of research provides strong evidence that stress exposure during adolescence can lead to short- and
long-term changes in limbic and cortical structure and function, with important behavioral
repercussions.
44
THE IMPORTANCE OF VESTIBULAR SYSTEM IN PEDIATRIC NEURO
REHABILITATION
Pavel R.
Balance Vertigo Center, Antibes, France
The vestibular system contributes to a variety of central nervous system functions including motor
control, e.g., stabilizing gaze by the vestibular-ocular reflex (Schwarz, 1976), body posture (Pozzo et
al., 1990), perception, e.g., of verticality (Lopez et al., 2007), and of self-motion (Brandt et al., 1998).
Moreover, it also contributes to cognition, e.g., spatial navigation and memory (Arthur et al., 2009),
and bodily self-consciousness (Blanke et al., 2002; Pfeiffer et al., 2013) necessary for body scheme
damaged in central and peripheral disorders. The Body Schema as Sir Henry Head originally
described it as a non conscious process is updating during body movement and it is used primarily for
spatial organization of action. Lately, it has been demonstrated (Whitney&all 2009, Wiener&all 2012)
that bilateral loss of vestibular function at or close to birth results in motor developmental delays
and alterations of body schema. Modern and ancient methods can allow us today to stimulate
actively the vestibular system from very early stages. The goal of dynamic vestibular stimulations
programs is to provide actives strategies to take maximum advantage of the critical period of injuryinduced plasticity and recovery function after neurological damages. With respect to all neuro
rehabilitation methods and techniques, and as a completion to all of them, the dynamic vestibular
stimulation in pediatric neuro rehabilitation may improve the motor control for posture, balance and
constitution of body scheme by the contributions of vestibular system to various spatial
representations of the body with respect to the external world. Active and early vestibular
stimulations has to be patient -dependent - by taking into account the sensorymotor, cognitive and
emotional profiles of the little patient and of his family which is a great factor in the recovery process
also.
45
THE ROLE OF HERPES VIRUSES IN BRAIN DAMAGE
Skripchenko N.2, Skripchenko E.1, Ivanova G.2, Murina E.2, Ivanova M.2, Gorelik E.2, Syrovtseva A.2,
Goleva O.2
1
Institution Of Human Brain Russian Academy Of Sciences, Saint-Petersburg, Russian Federation
Federal State Institution Research Institute Of Children'S Infections Of The Fed, Saint-Petersburg, Russian
Federation
2
INTRODUCTION: The morbidity of herpes-virus infection is about 90-98% all over the world. Due to
neurotrophic features, herpes viruses can persist in glia cells, sensory ganglia, immune competent
cells that leads to brain damage. The aim was to specify the role of different herpes viruses in acute
and chronical case of encephalitis (EF) in children.
MATERIALS AND METHODS: We observed 132 patients from 3 month to 18-years old with EF during
acute period of the disease and further 1-8 years. Etiology (herpes virus 1,2,3,4,5,6 types) was
verified by immune fluorescent assay (IFA), polymerase-chain reaction (PCR), immunocytochemistry
in cerebrospinal fluid (CSF) and blood. All patients experienced brain and spinal cord 3.0 Tesla MRI,
evoked potentials (EP): somatosensory - SSEP, cognitive EP, visual EP, acoustic EP. We detected level
of basic myelin protein in CSF by IFA as a marker of demyelinisation process expression.
RESULTS: 82.9% patients were children over 3 years old. Acute case of the disease was in 55%
patients, chronical case - in 31.1% cases, prolonged case -in 18.9% patients. During acute case, 90.9%
patients had cerebellar symptoms and 15.1% - convulsive syndrome. In patients with acute case of EF
we detected varicella zoster virus (VZV) in 63.6% patients, in 12.1% - herpes virus 1,2 types, in 15.3%
patients - herpes viruses 4,5,6 types and in 9% cases - mixt infection. In 60.6% children with acute
disease MRI was normal, in other cases lesions were located in cubcortex (90%), thalamuses (50%).
but we detected high latency of immune response in SSEP (87.5%), AEP (77.5%), VEP (12.5% cases).
The level of BMP in CSF was more than 1 ng/ml in 29.4% patients. Patients with chronical case had
sensory disorders, eye-movement disorders, also we detected mostly (92.7%) mixt herpes 4 and 5
type infection. On MRI in 92.6% patients we observed confluent lesions in brain and spinal cord. On
EP we detected both high latency and low amplitude. BMP wore than 9,0 ng\ml. Chronical case
transformed in multiple sclerosis in 34.1% patients.
CONCLUSION: Mixt-herpes virus infection is one of the main outcome factors in patients with
chronical EF.
46
THE ROLE OF MOLECULAR GENETIC ANALYSIS IN THE EVALUATION
OF NEURODEVELOPMENTAL DISORDERS IN A COMMUNITY WITH
HIGH CONSANGUINITY RATE
Mahajnah M.1, Sharkia R.2, Hengel H.3, Schöls L.3
1
Hille Yaffe Medical CenterHaderaIsraelRuth And Bruce Rappaport Faculty Of Medicine, TechnionHaifa,
Israel, Hadera, Israel
2
The Triangle Regional Research And Development Center, Kfar Qari', Israel
3
German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
INTRODUCTION: Consanguinity marriages is a common social phenomenon among many populations
in the Middle East and the Mediterranean region and considered an important risk factor that affect
the public and individuals health. Previous studies showed that communities with a high percentage
of consanguinity marriages have an increased incidence of many diseases such as diabetes,
hypertension and mental retardation. The aim of our study is to investigate the efficiency of using
the molecular genetic analysis for the diagnosis severe neurodevelopmental disorders in our
community.
MATERIALS AND METHODS: Fifty families were referred to the pediatric neurology clinic due to
suspected neuro genetic disorder during the last 6 years. 80% were children of consanguinity
marriage with more than one affected child in the family. The patients have A variety of neurological
diseases such as severe mental retardationepilepsy, ataxia and microcephalus. All underwent
routine investigations including metabolic screen and genetic tests without any pathologic finding.
Whole exome sequencing (WES) was carried out for these patients in order to exclude rare or new
gene mutations.
RESULTS: Using the WES revealed to the diagnosis of genetic disease in twenty percent of our
patients. These disorders are caused by mutations, including four new mutations that have not been
described previously and the rest were previously described know mutations.
CONCLUSION: Rare neurodevelopmental disorders are not rare in a community with high
consanguinity and considered a major medical, social and economic problem. Using WES sequencing
and whole genome sequencing is essential to investigate these patients. The most important
treatment is prevention by reducing the consanguinity marriage
47
THE UNIQUE EXPERTISE SYSTEM FOR CHILDREN WITH
HANDICAPS, DEVELOPMENTAL DISABILITIES, RARE AND CHRONIC
DISEASES IN CROATIA
Cvitanovic-Sojat L.1, Gavric D. 1, Dosen D. 1, Dulic R. 1, Kosanovic B. 1, Naglic N. 1, Turcic N. 1, Benjak T. 2,
Stefancic V. 2, Martinac E. 1
1
Institute For Expert Evaluation, Professional Rehabilitation And Employment Of People With Disabilities,
Zagreb, Croatia
2
Croatian Institute of Public Health, Zagreb, Croatia
INTRODUCTION: Following the WHO recommendation on the need of creating a social medical
model for persons with disabilities, from the beginning of 2015, the unique methodology of
determining disability was introduced in Croatia and is implemented by only one expertise institution
(instead of 6 as it was before). According to Croatian legislative, experts for measuring disabilities,
representatives of medical professions and persons with disabilities generated the national concept
containing a level of impairment, scale for measuring with assessment of functioning. This Regulation
contains the separate part for children with handicaps, developmental disabilities, rare and chronic
diseases.
METHODS: Data, opinions of second degree of expertises and conclusions of 344 children, aged one
to 21 years, were retrospectively elaborated, analysing diagnoses, functional impairments and
disabilities.
RESULTS: Between 344 children (55% girls and 45% boys), 47% of children had less than 7 years of
age. Diagnoses in 51% were congenital disorders, in 2 % developmental disorders, in 9% solid
tumours and haematological malignancies, in 4% sense disorder, in 6% mental disorder, 2% pervasive
disorder and 26 % of acquired diseases. Severe disabilities were found in 15% of children, moderate
in 71%, in 6% disabilities had a slight and in 8% there was no impact to functioning. After expertise
59% of children received personal disability allowance, 10% child allowance, 10% status of a parent
caregiver, 14% maternity and childbirth allowance, 7% allowance for assistance and care.
CONCLUSION: Analyses of the second degree of expertises showed a great utility and efficacy of this
unique methodology in Croatia to help children with functional impairments and disabilities.
Collaboration was good among people working in the health, education and social service sectors.
More effort must be done to obtain more precise medical and social data necessary for expertise
that is more appropriate.
48
THERAPEUTIC MEASURES IN PAEDIATRIC MIGRAINE - CAN WE DO
BETTER?
Rener-Primec Z.
Department Of Child, Adolescent And Developmental Neurology, University Children`S Hospital, Medical
Faculty, University Of Ljubljana, Ljubljana, Slovenia
OBJECTIVE: To assess the efficacy of therapeutic management of migraine in childhood and
adolescence (12 to 17 y) the review of published studies was done. According to epidemiological data
the majority of headache cases observed in paediatric emergency unites are migraine.
METHODS: a PubMed search for migraine - pain relieving medications in children and adolescents
was done. Data from our retrospective study were also compared.
RESULTS: A total of 27 randomized controlled trials of migraine treatment were found, and overall
7630 children and adolescents received medication; average age was 12,9y. Ibuprofen was more
effective than placebo; while paracetamol was not shown to be effective to achieve pain relief at two
hours. Triptans had similar efficacy in adolescents as in adults and were associated with only minor
adverse events, while no serious adverse events were reported. In children, sumatriptan and
rizatriptan were studied. A combination of naproxen and sumatriptan is also quite effective in
adolescents. In our study among 148 children and adolescents with migraine therapeutic measures
were effective in 2/3 of patients.
CONCLUSION: Different types of acute and profilactic antimigraine drugs are used in daily practice.
Ibuprofen appears to be most efficient for the acute migraine treatment in children if taken early
after the migraine onset. Appropriate diagnosis and management of migraine in paediatric
population is important, as shown it our previous study, therapeutic measures were effective in
more than 50% of the patients. Prophylactic measures can efficiently reduce the frequency and
intensity and should be used accordingly.
49
TICS AND TORETTE SYNDROME IN RUSSIA
Zykov V.
Russian Medical Academy Of Post-Graduate Education, Moscow, Russian Federation
In Russia tic disorders are being diagnosed in 6% of children (according to the data from Moscow
capital region), while in every fifth patient they take a chronic course. The peak of incidence falls
within school age with the top intensity of symptoms at 8-14 years old. In every tenth case of chronic
tics, they transform into Tourette syndrome (TS), when during 12 months multiple motor tics and
vocal tics (one and more) are seen. Assessment of pupils with learning difficulties demonstrated
higher prevalence rates of tics (up to 20-33%) than in population controls, resulting from concurrent
cognitive dysfunctions; at the same time TS is accompanied by attention deficit disorder in up to 7080% of cases. Tic is a resulting from various muscles contraction stereotyped hyperkinesis,
resembling a voluntary movement or vocal sound. It can involve several muscle groups. A tic can be
controlled as well as reproduced by the patient. Classification of tics (Zykov V.P. 2009)
Clinical forms:
1.
Transients tics;
2.
Chronic motor tics;
3.
Chronic vocal tics;
4.
Benign infantile form of Tourette syndrome
5.
Tourette syndrome
1.
Etiology:
1.1
Primary (inherited): autosomal-dominant intermediate inheritance with anticipation
phenomena, sporadic cases.
1.2
Secondary: symptomatic, drug induced (amphetamine, Lamictal, valproates).
1.3
Cryptogenic (probably sporadic cases).
2.
Semiology of tics
2.1
Motor tics
-
Local tic (involves one muscle group, e.g. facial);
-
Multiple tics (involves more than 2 muscle groups);
-
Generalized tic (involves both axial and extremities muscles).
2.2
Vocal tics
-
Simple;
-
Complex.
2.3
Combination of motor and vocal tics
3.
Severity (counting the number of tics per 20 minutes)
50
3.1
Single <10 (up to 30 in blinking);
3.2
Serial >10 and <30 (up to 50 in blinking);
3.3
Status >30 up to 600-1200
4.
Course
4.1
Transient;
4.2
Remittent course;
4.3
Steady course;
4.4
Progressive course.
5.
Age-dependent stages in children:
5.1
Onset (3-7 years old);
5.2
Manifestation of symptoms (8-12 years old);
5.3
Residual stage (13-15 years old).
Stages:
-
Onset (from 3 to 7 years old).
Manifestation of symptoms (8-12 years old). Mostly often exacerbations of the disease are
manifested with status motor-vocal hyperkinesis.
-
Residual stage (13-15 years old).
Tourette syndrome benign infantile form:
-
full remission or subsiding to single hyperkinesis after 14-15 years old;
-
autosomal-dominant inheritance in the male line of transient or chronic motor and vocal tics;
-
onset at 5-7 years;
-
remissions lasting 2-3 months;
-
hyperkinesis are self-controlled.
Treatment of tics and Tourette syndrome: Provide the patients with social adaptation, in case of
single hyperkinesis treatment are reasonable to be limited to regimen measures. A rational regimen
includes limitation of watching TV and personal computer using time. Assure drug therapy selection
according to the semiology and severity of hyperkinesis and concurrent syndromes. Inform the
parents of the necessity to count tics and to carry out self-count by the patient in order to improve
the quality of the therapy. Inform the parents of the necessity to count tics and to carry out selfcount by the patient in order to improve the quality of the therapy. The latest intake of anti-tic drugs
should be at 6 pm.
Prognosis: In local and multiple chronic tics the prognosis is favorable. By 14-16 years old a complete
regression of tics takes place or minimal symptoms remain in 90% of cases in local and in 50% of
cases in multiple tics. 30% of children with Tourette syndrome have benign infantile form without
51
obsessive-compulsive disturbances, characterized by regression of motor and vocal symptoms by the
adolescent age. The most serious cases develop in adults. Prevalence of coprolalia increases from 8%
in childhood to 40-60% at the third decade of age. Attention deficit syndrome and obsessivecompulsive disturbances have a great impact on the quality of life.
52
VITAMIN D IN CHILDREN WITH HEADACHE
Sonmez F., Donmez A., Namuslu M., Canbal M., Orun E.
Turgut Ozal University, Faculty Of Medicine, Bestepe, Ankara, Turkey
AIMS: : Some studies have shown a link between vitamin D deficiency and headache.The objective of
this study is to examine the relationship between subclinical vitamin D deficiency and headache in
patients between 5 and 16 years of age with headache (this ages include school age children in
Turkey).
MATERIAL AND METHODS: In this study, 147 patients with headache (migraine or either tensiontype headache (TTH)) and 101 healthy controls, aged 5 to 16 years, were evaluated. Each group was
also divided into two separate sub-groups based on presentation to the clinic in either high solarexposure (HSE) and low solar-exposure (LSE).We retrospectively evaluated the levels of calcium,
phosphorus, alkaline phosphatase, parathyroid hormone, and 25-OH vitamin-D3. Levels below 20
ng/ml were described as vitamin D deficiency and levels of 20-30 ng/ml as vitamin D insufficiency.
The data obtained from the patients and the control groups were transferred to the computer
environment and the SPSS version 16.0 (SPSS Inc., Chicago, IL., USA) package software was used for
statistical analysis.
RESULTS: The levels of 25-OH vitamin-D3 were statistically significantly lower when compared to the
control group (17.1±9.4 vs. 23.3±12.8 ng/mL, respectively; p<0.001). This held true for both the HSE
and LSE group compared to the control group (for the group 1; 24.6±11.8 vs. 30.8±10.4 ng/mL,
respectively; p=0.029, and for the group 2; 14.5±6.8 vs. 17.6±11.4 ng/mL, respectively; p=0.015).
CONCLUSION: As a result of the data acquired from our study, it was concluded that headache and
vitamin D deficiency could be related. This conclusion needs to be supported with randomised
clinical studies containing a larger numbers of samples and control groups over periods that preevaluations are carried out via survey studies.We suggest that further studies including more
patients together with the evaluation of INOS, endothelial function and signal pathways, are
necessarry to draw a firm conclusion regarding an association between vitamin D deficiency and
headache.
53
Poster Presentations
54
AICARDI GOUTIERES SYNDROME: STUDY OF A TUNISIAN COHORT
Brahem Z.1, Kraoua I.1, Rouissi A.1, Benrhouma H.1, Klaa H.1, Ben Achour N.1, Dorboz I.2, BoesflugTanguy O.2, Ben Youssef-Turki I.1
1
Department Of Child And Adolescent Neurology, National Institute Mongi Ben Hmida Of Neurology, Tunis,
Tunisia
2
Umr1141, Inserm, Neuroprotection Du Cerveau En Développement, Hôpital Robert Debré, Paris, France
INTRODUCTION: Aicardi-Goutières syndrome (AGS) is a rare monogenic inflammatory
encephalopathy caused by mutations in any of the seven genes: TREX1, RNASEH2A, RNASEH2B,
RNASEH2C, SAMHD1, ADAR or IFIH1. We report on clinical, biological and imaging findings of seven
Tunisian patients with AGS.
METHODS: Retrospective study over 12 years (2004-2016) including 7 Tunisian patients with AGS.
Clinical, biological, imaging and genetic data were analyzed.
RESULTS: Seven unrelated patients were collected (4 boys and 3 girls). Consanguinity was noted in
four families. Mean age at onset was 5 months (1month-1 year). Initial clinical manifestation was
psychomotor delay in 4 cases and psychomotor regression in three. Examination showed irritability,
acquired microcephaly, spastic tetraparesis, and dystonia in all patients. The brain CT scan revealed
multiple calcifications especially in the basal ganglia in all patients. The brain MRI displayed a
hypointense signal in T1-weighted images and a hyperintense signal in T2-weighted in cerebral white
matter and cerebral atrophy in all patients associated to cystic lesions in one patient. Routine biology
showed increased level of liver enzymes in 3 patients. Increased rate of interferon alpha and
lymphocytes in cerebrospinal fluid was noted in all patients. Homozygous TREX1 mutation was
identified in one patient and RNASEH2B mutations was identified in five others.
CONCLUSION: Our series illustrate typical clinical and radiological features described in AGS. The
diagnosis should be considered in a patient with subacute encephalopathy and psychomotor
regression in the first year of life. Brain calcifications mimicking congenital infection (CMV) and are
the radiological hallmarks of AGS. Diagnosis is based on determination of pathogenic genes which is
the basis of genetic counseling.
55
ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY
Haifa K., Hedia K., Hanene B., Nadia B., Ichraf K., Ilhem T.
Department Of Child And Adolescent Neuorology,National Institute Mongi Ben Hmida Of Neurology, Tunis,
Tunisia
INTRODUCTION: Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive
neurodegenerative disease caused by mutations in the gene coding for α-tocopherol transfer protein
(TTPA). It's characterized by neurological symptoms resembling Friedreich's Ataxia with very reduced
serum vitamin E levels.
MATERIAL AND METHODS: We report 3 patients with AVED, followed at the Department of Child
and Adolescent Neurology. Clinical aspects, investigations, outcome and management were
analyzed.
RESULTS: 2 sisters and 1 girl, aged respectively: 19, 20 and 24 year-old, born to consanguineous
parents. Mean age of onset of ataxia were 10 years. Examination showed in three cases: cerebellar
ataxia, areflexia, bilateral Babinski sign, decreased vibration sens and dystonia of upper limbs with
scoliosis in the siblings’ case and nystagmus in the third case. Cerebral MRI was normal. Biologic
investigation showed very low levels of plasma vitamin E. Patients was treated with high Vit E dose
(800-1500 mg three times a day) with improvement of ataxia for two sisters and clinical stabilization
for the third patient.
CONCLUSION: AVED is a rare disease. The majority of patient reported are from Mediterranean
countries, particularly North Africa. Our cases underline the significance of screening the selected
patients of ataxia for vitamin E deficiency as it is one of the treatable causes of ataxia. Early diagnosis
of vitamin E deficiency may provide considerable improvement in the quality of AVED patient’s life.
56
ATYPICAL BRAIN MRI FINDINGS IN CHILDHOOD ANTI-NMDA
ENCEPHALITIS
Ben Achour N.1, Jeridi C.1, Drissi C.2, Benrhouma H.1, Klaa H.1, Rouissi A.1, Kraoua I.1, Ben Hammouda
M.2, Ben Youssef-Turki I.1
1
Research Unit Ur12 Sp24 And Department Of Child And Adolescent Neurology. National Institute Mongi Ben
Hmida Of Neurology, Tunis, Tunisia
2
Department Of Neuroradiology National Institute Mongi Ben Hmida Of Neurology, Tunis, Tunisia
INTRODUCTION: Anti-N-methyl-D-aspartate receptor encephalitis (NMDAE) is an autoimmune
mediated disorder. In most reported cases, Brain MRI did not show any abnormalities. Our aim is to
report atypical findings on brain MRI in Tunisian children with NMDAE.
MATERIALS AND METHODS: We retrospectively reviewed medical records of all Tunisian children
diagnosed with NMDAE between 2008 and 2016. Two children out of 6 had atypical brain MRI
images. Clinical features, radiological aspects and outcome were analyzed.
RESULTS: There were 2 patients out of 6. The first case was a 8-years-old previously healthy boy. He
had acute ataxia and epileptic seizures as initial symptoms. Brain MRI showed bilateral T2-weighted
and fluid-attenuated inversion recovery (FLAIR) hyperintensity lesions in cerebellar hemispheres.
Given the fluctuating course, psychiatric disturbances and orofacial dyskinesis. Serum and CSF
analysis of anti-NMDA confirmed the diagnosis of NMDAE. The boy had a complete recovery after
immunoglobulin treatment. The second case was a 14-year-old girl who presented with progressive
learning disabilities . Neurological examination revealed cerebellar ataxia, hemiparesis, dystonia and
orofacial dyskinesis. Brain MRI showed T2-weighted and FLAIR subcortical hyperintensity in
basifrontal regions, basal ganglia and mesencephalic regions. Giving the chronic course and
brainstem involvement, the patient was initially misdiagnosed as a Neuro-behçet disease. The
positivity of anti NMDA in CSF allowed diagnosis of NMDAE. She had corticotherapy and azathioprine
with partial recovery.
CONCLUSION: Our study illustrate atypical brain MRI findings in NMDAR encephalitis and possible
misleading radiological features. In the majority of NMDAE patients, MRI did not show abnormalities
or may show T2-weighted and FLAIR hyperintensity involving medial temporal lobes and frontobasalinsular areas. Brainstem, cerebellar and basal ganglia lesions are very rarely reported finding.
Recognition of atypical MRI findings may allow early diagnosis of this curable disorder.
57
AUTISTIC SPECTRUM DISORDER AS A INITIAL FEATURE OF
DUCHENNE MUSCULAR DYSTROPHY
Jeridi C., Ben Achour N., Benrhouma H., Klaa H., Mejri I., Rouissi A., Kraoua I., Ben Youssef Turki I.
Research Unit Ur12 Sp24 And Department Of Child And Adolescent Neurology Institute Mongi Ben Hmida Of
Neurology, Tunis, Tunisia
INTRODUCTION: Duchenne muscular dystrophy (DMD) is an X-linked severe progressive disease
presenting in early childhood. Recent studies support higher prevalence of autistic spectrum disorder
(ASD) in DMD patients. We report a case of DMD boy who has a severe ASD as a presenting feature.
CASE REPORT: A 4-year-old boy, born to non consanguineous parents, was referred, to our
neurological department for behavioural disturbances. He has a family history of DMD. His neonatal
history was unremarkable. Examination revealed autistic traits with a severe expressive language
deficit, lack of nonverbal communication and social interaction with others and stereotyped
behaviour. These findings were associated to mild lower limbs deficit. Raised levels of creatine kinase
and myogenic changes electroneuromyogram lead to suspected diagnosis of DMD. Screening of DMD
gene revealed deletion of exon 51.
CONCLUSION: Our case illustrates association between ASD and DMD. Giving the emerging evidence
of central nervous system involvement resulting in language disturbances, neuropsychological
disorders and autistic traits in DMD, screening for DMD should be performed in boys aged less than 5
years presenting with ASD in order to improve patient’s management and outcome.
58
AUTO-IMMUNE RESISTANT OCCIPITAL LOBE EPILEPSY : CELIAC
DISEASE
Dai A.1, Varan C.2
1
University Of Gaziantep, Faculty Of Medicine, Department Of Pediatric Neurology, Gaziantep, Turkey
University Of Gaziantep, Faculty Of Medicine, Department Of Pediatric, Gaziantep, Turkey
2
OBJECTIVE: Celiac disease (CD) is a chronic, inflammatory autoimmune disorder caused by
intolerance to ingested gluten. Increased frequency of CD has been reported in occipital lobe
epilepsy. The aim of the present study is to investigate the frequency of CD among children followed
up due to epilepsy and diagnosed with epileptic activity in the occipital lobe in at least one
electroencephalography (EEG) test.
MATERIAL AND METHOD: For this research, 90 pediatric epilepsy patients with epileptic activity in
the occipital lobe were enrolled in the study group, while the control group comprised of 100 healthy
children. In addition to the EEG examination, tissue transglutaminase (tTG) antibody was determined
on duodenal biopsy.
RESULTS: None of the healthy children in the control group was positive in terms of the tTG antibody
test used to scan CD. In the group with epileptic activity in the occipital lobe, two patients out of 90
were tTG antibody positive. The seroprevalence was 1/45 (2.22%) in this group. These two patients
were diagnosed with CD based on the endoscopic duodenal biopsy. In these patients, the seizures
were uncontrollable through monotherapy.
CONCLUSION: Our results showed that the prevalence of CD is observed to be higher than the
normal population among the patients with occipital lobe epilepsy. Therefore, screening for CD is
recommended in children with resistant epileptic activity in the occipital lobe. Those patients can
respond gluten free diet and can remain seizure free without AED.
59
BEHAVIORAL DISORDERS OR PARENTING DEFICIT?
Azucena Delgado Ochoa M.
Tijuana General Hospital/Neuromedica A.C., Tijuana, Mexico
INTRODUCTION: Behavior problems are one of the main reasons for neuropaedriatic consultation
and gradually has been an increase in the diagnosis of ADHD and associated behavioral disorders.
These diagnoses remain eminently clinical, which makes important a proper assessment. Are there
any reason to believe that we are over diagnosing behavioral disorders in patients who do not meet
the clinical criteria and in turn sub diagnosed comorbidities or child rearing problems?
MATERIAL AND METHODS: Observational, descriptive, transversal study. Population: Patients with
diagnoses of behavioral disorders. Sample: 66 patients that have meet the criteria for DSM IV / DSM
5. Analysis descriptive statistics, measures of central tendency and dispersion, SPSS 24.
RESULTS: 66 patients were selected, the average age was 4.5 years, 53 patients were boys (80%) and
13 patients were girls (19%). 62% said they had no rules and habits at home and 38% reported having
rules and habits at home. 28 patients (42%) did not meet criteria for any conduct disorder and 18
patients (27%) were diagnosed as ADHD, of which 13 (19%) had ADHD comorbid & 5 ADHD without
comorbidities (among the most frequent comorbidities: Disorder defiant 8 patients, anxiety 5
patients, conduct disorder 4 patients, dyspraxias disorder 2 patients, family dynamics 1 patient,
seizures 5 patients, Sx Kempe 1 patient). 13 patients (19%) met criteria for autism spectrum disorder.
5 (7%) for Oppositional Defiant Disorder, 2 (3%) for anxiety disorder.
CONCLUSION: Almost half of patients (42%) did not meet clinical criteria for a neurobiological
disorder or disruptive behavior. This percentage is the one who is at risk of being over diagnosed and
is forcing us to pay more attention to behavioral shaping of caregivers. 27% of patients were
diagnosed with ADHD, 19% was comorbid ADHD and only 7% ADHD without comorbid conditions; It
is forcing a thorough anamnesis of all behavioral symptoms avoiding the sub diagnosis of such
comorbidities.
60
BONE MINERAL DENSITY BY CHILDREN AND ADOLESCENTS WITH
CEREBRAL PALSY IN RELATION TO THE LEVEL OF FUNCTIONAL
DISABILITY
Delalić A.1, Hajrić Z.2
1
Department Of Physical Medicine And Rehabilitation, University Clinic Center, Tuzla, Bosnia And
Herzegovina
2
Department Of Pediatrics, General Hospital Tešanj, Tešanj, Bosnia and Herzegovina
AIM: To determine bone mineral density (BMD) by children and adolescents with cerebral palsy (CP)
in relation to the level of functional disability.
MATERIAL AND METHODS: The BMD has been analized at 82 children and adolescent with CP,
average age 10,8±-3,6 years (age between 5 and 19,4 years). The BMD was measuared in lumbar
spine region with dual-energy X-ray absorptiometry and results are determinated as Z score. The
level of functional disability is estimated by Gross Motor Function Classification System (GMFCS
levels I-V). Relation between variables has been used by Pearson correlation, with statistical
significancy p<0,05.
RESULTS: Decreased BMD as Z score< -2,0 has been detected in 45,1% patients. A high presentation
of decreased BMD of 80% has been found in patients with imobility (GMFCS IV-V) comparated to
13% independently movable patients (GMFCS I-II) (p <0,001). The average BMD Z score in patients is 1,72±1,05. The average BMD Z score by patients with imobility (GMFCS IV-V) was -2,46, whereas, it
by mobility patients with a hand-held mobility device(GMFCS III) was -1,38 and the score by
independently movable patients was -0,96, which has shown statisticaly significant correlation
between BMD and level of functional disability (p=0,0001).
CONCLUSION: Most of children and adolescents with CP have a decreased BMD, especially those
with most difficult disabilities. Movement limitation represent one of the most important factors for
decreasing BMD, which should be the foundation of intervention support for healthier bones by
people with functional disabilities. Keywords: Bone mineral density, Cerabral palsy, functional
disabilities.
61
CHILD'S PLAY IN THE HOSPITAL
Kolak Z.1, Matijević V.2, Šečić A.2, Marunica J.2, Perica Starčević M.2, Vlahek P.3
1
Department Of Physical Medicine And Rehabilitation, Vinkovci, Croatia
Clinical Department Of Rheumatology, Physical Medicine And Rehabilitation, Sestre Milosrdnice University
Hospital Center, Zagreb, Croatia
3
Special Hospital for Medical Rehabilitation, Varaždinske Toplice, Croatia
2
INTRODUCTION: Hospital treatment (hospitalization) interrupts the usual daily routine because a
child is separated from its family. The illness of a child and its placement in the hospital is one of the
possible situations when there is a break of contact for a while. Therefore it is necessary to satisfy
child's emotional and physical needs in order to avoid hospitalism, described as psychological distress
due to deprivation of parental care during the hospital stay. The classic course of hospitalization
takes place in three phases: a protest in the form of crying and rage, despair characterized by
regressive forms eg difficulty sleeping and eating, and phase of indifference or ostensible adaptation
which accepts a certain degree of uncertainty. Child's play is not only determined by external stimuli,
but arises from the child's internal motivation. In a hospital environment a play is often used as a
form of psychotherapy. Thus, the fears and anxieties can be easier to identify and hospital staff can
better make it to be mitigated
MATERIAL/METHOD: The aim of this qualitative study was to examine the opportunity for medical
staff working in children’s’ wards at KBC “Sestre Milosrdnice” to perform play therapy in the clinical
environment. A group interview was performed on 10 participants whose identity was kept
anonymous in the process of audio recording.
RESULT: Results of this research gave an insight into current situation and the potential opportunities
to perform play therapy in the clinical environment.
CONCLUSION: It has been concluded that a specific management could increase the quality of
hospital treatment in children. Key words: playing, types of games, rehabilitation
62
CLINICALLY AND RADIOLOGICALLY ISOLATED SYNDROME IN THE
DEBUT OF MULTIPLE SCLEROSIS IN CHILDREN
Yevtushenko S.1, Moskalenko M.2, Yevtushenko I.3, Filimonov D.3
1
Regional Children'S Neurorehabilitation Center, Donetsk, Ukraine
Regiocal Children'S Clinical Hospital, Donetsk, Ukraine
3
V.K. Gusac Institute of Urgent and Reparative Surgery, Kiev, Ukraine
2
BACKGROUND: The increasing incidence of multiple sclerosis (MS) in children requires its early
diagnosis and treatment.
AIMS: to study early manifestations and MRI-findings in the debut of MS in children.
MATERIALS AND METHODS: Using clinical, radiological (MRI with Gadovist) and laboratory (analysis
of herpes viruses’ DNA in cerebrospinal fluid and intrathecal synthesis of IgG) methods 75 children
aged 10-18 years (45 girls and 30 boys) with definite MS (according to McDonald criteria, 2010) were
examined.
RESULTS: The age of disease onset was: before 12 years - 10 children (13.3%), 12-14 years - 17
children (22.7%), 15-17 years - 48 children (64%). Monosymptomatic onset was in 43 patients
(57.3%), polysymptomatic – in 32 patients (42.7%). Manifestations of monosymptomatic debut were:
numbness, paresthesia - 12 children (27.9%), decrease of vision - 12 patients (27.9%), paresis - 8
(18.6%), diplopia - 4 (9.3%), ataxia - 2 (4.7%), headache - 2 (4.7%), bladder dysfunction - 2, facial
neuropathy - 2. Finding on MRI were: multiple lesions in the brain – in 36 patients (83.7%), one lesion
- in 5 (11.6%), lesions in the spine - in 2 patients (4.7%). In polysymptomatic debut in 29 children
(90.6%) ataxia was present in various combinations with limbs paresis, sensitivity disorders, optic
neuritis, oculomotor disturbances, dysarthria, cognitive and bladder disorders. The typical MRIfindings in polysymptomatic debut were: multiple lesions in the brain and spinal cord - in 27 patients
(84.4%), three lesions - in 5 patients (16.6%), lesions with Gadovist accumulation - in 56 patients
(74.7%).
CONCLUSIONS: MS debut before 15 years was more common in girls (70.3%) than in boys (29.7%).
Monosymptomatic onset in children was observed more often than polysymptomatic (57.3% and
42.7%, respectively). Sensitive disturbances and decreased vision were typical for monosymptomatic
debut, while ataxia and limbs paresis were more often in polysymptomatic debut of MS.
63
DELAYED DIAGNOSIS OF AUTISM IN ADOPTED CHILDREN
Janjua F., Dass S.
Sidra Medical and Research Center, Doha, Qatar
In adopted children the diagnosis of Autism Spectrum Disorders can be difficult since the behaviours
associated with this condition can be interpreted as attachment problems. In this paper, the authors
describe 4 cases of adopted children, aged 8 - 13 years, referred quite late for suspected Autism. All
these children had presented with difficult behaviour since early on as well as obvious difficulties
with communication and social interaction. These problems had been attributed to attachment
problems following their adoption and treated as such. Lack of progress or severe deterioration led
parents to seek a second opinion, mostly through their GP. The diagnostic criteria for Attachment
Disorder and Autism are discussed to demonstrate the difficulties in distinguishing between the two
conditions. The authors call for particular care when assessing behavioural problems in adopted
children since a misdiagnosis early on will delay intervention and further risk the adopted
parent/child relationship.
64
DEVELOPMENT OF COSTELLO SYNDROME: REPORT OF 2 CASES
Hong B., Song S., Kim J., Kim Y., Lim S.
St. Vincent’S Hospital, College Of Medicine, The Catholic University Of Korea, Suwon, Republic Of Korea
AIMS: Costello syndrome is very rare disease with abnormalities in multiple organs and
developmental delay. Less than 300 cases of the syndrome have been reported worldwide and only 3
cases have been reported in South Korea. We report 2 cases of Costello syndrome with characteristic
features focused on developmental delay.
CASE REPORT: A boy was born at 34 weeks and 6 days of gestation and his body weight at birth was
4080g, height was 53cm and head circumference was 37.5cm (all were >90th percentile).
Polyhydramnios was detected from the 3rd trimester and he was delivered by cesarean section in
other hospital. After birth, the baby was transferred to our hospital because of tachypnea, but after
transfer, tachypnea was relieved. However, 10 weeks after, he was admitted to the other hospital
because of aspiration pneumonia and he was fed with nasogastric tube. He had dysphagia but was
eating orally at 5 months old. Brain MRI finding was non-specific but he showed ankle plantarflexor
spasticity in both sides. Bayley DQ at 18 months was 33.3 in gross motor, 44.4 in fine motor, 55.5 in
cognition and 61.1 in language. He was sensitive to auditory stimulation and his visual perception
and balance was impaired. He was able to walk with walker at 31 months and he initiated regular
diet at 52 months old. When he was 31 months old, he was diagnosed with Costello syndrome in
other hospital. At 5 years old, he speaks with three words but has dysarthria. He walks independently
on even ground, but still needs one hand assist in stair. A 24 months-old-boy visited for dysphagia
and developmental delay. He was born at 34weeks and 4 days of gestation and weight was 2550g. He
received operation for laryngomalacia and after that he had been refused oral feeding and was fed
via nasogastric tube. He had narrow forehead, thick eyebrows and lips, curly hair, was sensitive with
auditory stimulation. He started rolling at 10 months, creeping at 12 months of age, and 3-4 steps
gait with two hand support at 27 months. Elbow flexor and ankle plantarflexor was spastic. Bayley
scales DQ (26 months old) were 30.7 in cognitive, fine motor and gross motor, 27 in receptive
language, 23.1 in expressive language. With his characteristic features, we recommended HRAS gene
analysis to his parents and they agreed. In HRAS Gene analysis, p.(Gly12Ser) mutation in exon 2 was
reported and Costello syndrome was diagnosed.
CONCLUSION: The Costello syndrome is an autosomal dominant inherited disorder with frequent de
novo mutation in the protooncogene HRAS. In spite of typical characteristics in craniofacial
appearances and musculoskeletal, cardiovascular, and neurologic abnormalities, it is quite rare and
the diagnosis is often delayed. In our two cases, one was diagnosed at 31 months of age, and the
other was diagnosed at 28 months of age. They all showed dysphagia, moderate developmental
delay.
65
EEG FINDINGS IN CHILDREN EXPOSED TO ANTIEPILEPTIC DRUGS
IN UTERO
Gogatishvili N.1,2, Ediberidze T.1,3, Mamukadze S.1,4, Gagoshidze T.1,4, Kasradze S.1
1
Institute Of Neurology And Neuropsychology, Tbilisi, Georgia
Tbilisi State Medical University, Tbilisi, Georgia
3
D.Tvildiani Medical University, Tbilisi, Georgia
4
Iv. Javakhishvili Tbilisi State University, Tbilisi, Georgia
2
PURPOSE: It is well known, that AEDs exposition in utero are associated with increased risk of major
congenital malformations and decreased intelligence quotient (IQ). There are very few date about
electroencephalographyc (EEG) findings in children with foetal AEDs exposition. The aim of this study
was to investigate characteristics of EEG features in children exposed to antiepileptic drugs in utero.
METHODS: In 96 children aged 36-72 months (mean age – 53.6 months) with fetal exposure to AEDs
(n=47) and without fetal AEDs exposure (n=49) as a controls were performed standard EEG. Focal
and generalized epileptiform discharges, and focal slowing EEG features were analyzed .
RESULTS: EEG was obtained in all 96 children. Out of exposed children in 18 exposure with valproate
(VPA) was detected, in 16 cases with carbamazepine (CBZ )two cases with Lamotrigine (LTG), in one
each cases with Levetiracetam (LEV) and Phenobarbital (PB), and in remaining 9 Children exposure
with various other AEDs were observed. From 47 children with fetal AEDs exposure epileptiform EEG
discharges were revealed in eight (17%) of them: in three (17%) out of 18 with VPA exposition, in
three (19%) out of 16 with CBZ exposition, in one from two children with LEV exposition and in both
children with LTG and PB exposed. From mothers of 8 children with epileptiform EEG-discharges five
of them had focal and remaining three –primary generalised epilepsy. Three children from exposed
group had been diagnosed epileptic seizures as well. There was only 1 (2%) child with epileptiform
paroxysmal EEG discharges from control group (49 children).
CONCLUSION: Maternal epilepsy and AED therapy during pregnancy may have long-term effects on
the offspring's electrophysiological patterns , For more conclusive results further research is needed.
Acknowledgements: The study was performed within the scientific grant-project “ FR/373/8-313/13”
from the Shota Rustaveli National Scientific Foundation.
66
EFFICACY OF VACCINATION IN CHILDREN WITH NEUROLOGIC
DISORDERS
Skripchenko N.1,2, Kaplina S.1, Kharit S.1
1
Federal State Institution Research Institute Of Children'S Infections Of The Fed, Saint-Petersburg, Russian
Federation
2
Saint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russian Federation
INTRODUCTION: Among those children who are to be immunized in the first year of life up to 60%
have neurologic disorders of various load and structure that is a principal cause of unvaccination
including the Russian Federation. It makes the threat to national safety. Therefore the estimation of
vaccination efficacy in children with neurologic pathology is urgent.
MATERIALS AND METHODS: There were examined 434 children aged from 3 months to 6 years
living in children’s homes of Saint Petersburg, 90 children among them had consequences of
perinatal hypoxic-ischemic CNS disorder, 96 children - a delay of psychomotor and speech
development, 142 children - severe organic defect of CNS involvement (children’s cerebral paralysis,
epilepsy), 30 children - congenital disorders of brain and spinal cord development. The control group
was composed by 76 children without neurologic pathology, similar by sex and age. The completed
vaccination by inactivated vaccines was performed in 404 children (93,1%) including adsorbed
diphtheria tetanus-anatoxin vaccine - 81 (20%), adsorbed pertussis diphtheria tetanus vaccine - 195
(48,3%) and Infanrix/Pentaxim - 128 (31,7%), by live vaccines - in 418 children (96,3%), including
mono-valent measles vaccine - 135 (32,3%), divaccine - 204 (48,8%) and Priorix - 79 (18,9%). Efficacy
of vaccination was estimated according to the level of titers of specific antibodies: to diphtheria – by
passive hemagglutination test (protective titer 2,32 Log2); to pertussis - by the reaction of
agglutination and immune-enzyme analysis method by the utility of test-system Anti-Bordetella
pertussis toxin ELISA (protective titer 20 IU/ml); to measles and parotitis – by immune-enzyme
analysis method (protective titers 2,32 Log2 or 0,18 IU/ml in the case of measles and 0,365 r.u. in the
case of parotitis).
RESULTS: It was determined that all children produced protective titers of diphtheria antibodies,
regardless of the type of the introduced vaccine and neurologic symptomatology (on the average
8,13±0,33 log2 in vaccinated by adsorbed pertussis diphtheria tetanus vaccine and 8,24±062 log2 in
vaccinated by Infanrix). The average titers of anti-pertussis antibodies composed 30,14±6,8 IU/ml in
the case of adsorbed pertussis diphtheria tetanus vaccine, and 32,80±11,41 IU/ml in the case of
Infanrix. It was revealed that in 30 days after vaccination 5-8% of children with CNS involvement
were not protected against pertussis, and in 3 years their number increased up to 64,3%. The titers
of antibodies to measles and parotitis accounted for (5,69±0,24Log2) in the case of divaccine to
compare with mono-valent measles vaccine (4,71±0,21) and Priorix (4,92±0,21Log2). The level of
anti-measles antibodies (3,08±0,49log2) and anti-parotitis antibodies (0,72±0,49 r.u.) in the group of
children with severe organic pathology, epilepsy and children’s cerebral paralysis did not reliably
differ from the control group (5,88±0,31 and 0,63±0,30 consequently). It was revealed that up to 40%
of vaccinated children had lost the antibodies to parotitis in 1-3 years after the vaccination by
Priorixom.
CONCLUSION: The usage of modern vaccines in children with various neurologic pathology is
effective. Children with neurologic disorders require individual approach to vaccination. There was
67
proved introduction of the second revaccination against pertussis in 3 years after the first one and
estimation of titers of anti-parotitis antibodies in a year after vaccination to make a
conclusion on additional introduction of a mono-vaccine against parotitis.
68
EPIDEMIOLOGICAL AND CLINICAL ANALYSIS OF PAROXYSMAL
STATES IN CHILDREN OF DIFFERENT AGE GROUPS IN KHARKIV
REGION OF UKRAINE
Sukhonosova O.
Kharkiv Medical Academy Of Postgraduate Education, Kharkiv, Ukraine
AIMS: . Paroxysmal states of different genesis (epileptic and non-epileptic) in children are a pressing
problem of child neurology. Epilepsy holds the second place in the structure of neurological diseases
in children. The incidence of the disease in the population among children is up to 1%. The aim of this
study was to analyse anamnesis of children with epileptic and non-epileptic paroxysmal states in
Kharkiv region.
MATERIALS AND METHODS: Our study included 1600 children with epileptic and non-epileptic
paroxysms. The children were divided by age into 4 groups: 1 month - 1 year, 1-6 years, 7-14 years,
15 -17 years.
RESULTS: In Kharkiv region prevalence of epilepsy and epileptic syndromes is 3.13% (1301 children),
representing 2.84% of all reported diseases. Symptomatic epilepsies were recorded in 61% of cases,
idiopathic epilepsies - in 27% and cryptogenic ones – in 12% of them. It should be noted that the
incidence of epilepsy is steadily increasing mainly due to symptomatic forms resulting from residual
and progressive brain damage with formation of structural or functional defect. An average age of
children surveyed was 8.24 ± 6.24 years, an average age of onset – 5.37 ± 4.11 years, duration of
epilepsy – 6.71 ± 6.59 years. Other paroxysms were recorded in 299 children (23% of all paroxysmal
states) with 173 of them being non-epileptic. Febrile and affective-respiratory attacks were recorded
in 126 children. An average age of children surveyed was 10.24 ± 6.68 years, the average age of onset
– 6.34 ± 3.56 years, duration – 4.24 ± 2.27 years.
CONCLUSION: Thus, in the group of children from 1 month to 1 year of age (135 children) epilepsy
was diagnosed in 51%, febrile and affective-respiratory attacks - 33%, non-epileptic paroxysms - 16%
of cases. In the group of children 1-6 years of age (357 children) epilepsy was diagnosed in 73%,
febrile and affective-respiratory attacks - 14% non-epileptic paroxysms - 13% of cases. In the group of
children 7-14 years (483 children) epilepsy was diagnosed in 83%, febrile and affective-respiratory
attacks - 5%, non-epileptic paroxysms - 12% of cases. In the group of children 15 - 17 years (625
children) epilepsy was diagnosed in 91%, febrile and affective-respiratory attacks - 2%, non-epileptic
paroxysms - 7% of cases.
69
ETHICAL ASPECTS OF THE NERVOUS SYSTEM DISEASES THERAPY
IN CHILDREN - ONE OF THE MOST VULNERABLE GROUPS OF
PATIENTS
Mikhalovska-Karlova E.
Federal Scientific State Budgetery “N.A. Semashko National Research Institute Of Public Health”, Moscow,
Russian Federation
INTRODUCTION: Children with the Nervous System diseases are the one of the most vulnerable
groups of patients. Therefore along with classical ethical principles, neuropediatricians must adhere
to the special principles of Bioethics – vulnerability and protection of future generation in the routine
clinical practice. We investigate neuropediatricians motivation to adhere ethical principles while
treating pediatric patients with Nervous System diseases.
MATERIALS AND METHODS: Interviews with 265 Russian neurologists and epileptologists, contentanalysis of publications in neurology and epileptology journals, social surveys, self-administered
questionnaires were conducted from 2010 to 2016. The author has more than 25 years of experience
of teaching Bioethics to students of Moscow Medical Schools, teaching biomedical and professional
ethics to graduate medical students and physicians attending continuous education courses and
certificate courses on Neurology and Epileptology; personal experience of participating in expert
committees of various levels.
RESULTS: Adherence to the ethical principles in treatment of children suffering from the Nervous
System diseases has been gradually implemented in routine clinical practice of Russian
neuropediatricians. 72% of respondents started special treatment after obtaining the patient’s
representatives (parents of child) informed consent; 60 % of the respondents were guided by the
principles of respecting the patient’s autonomy and dignity in their practice; 55% of the respondents
adhered to the partnership and contract models of interaction with patient and his parents. The
index of motivation (IM) among neuropediatricians was high: 0,8 – 0,9. Over 90% respondents tried
to follow principles of Bioethics in their medical practice. However, 50% could not identify the type of
model, which they followed. 75 % respondents admitted to a significant deficit in their knowledge of
Bioethics.
CONCLUSION: Bioethics as it is currently taught in Russian medical schools is insufficient for an
ethically informed treatment process. The bioethics classes should be moved to the curricula of the
upper level students and should be implemented in the system of the continuous medical education.
70
EVALUATION OF DYSPHAGIA IN INFANTS AT NICU WITH
VIDEOFLUOROSCOPIC SWALLOWING STUDY (VFSS)
Hong B., Sung W., Kim J., Lee J.
Department Of Rehabilitation Medicine, St. Vincent’S Hospital, College Of Medicine, The Catholic University
Of Korea, Suwon, Republic Of Korea
AIMS: Clinical examination and history taking is important in assessment of feeding problems,
however, with VFSS, we could check other aspects of dysphagia that are not able to know in clinical
setting. Though VFSS is often considered as ‘gold-standard’ technique to assess dysphagia, unlike in
adults, there’s scarce research in pediatric patients, especially in children with term age.
METHODS: Retrospectively, infants who were referred to the rehabilitation department for VFSS
were recruited. Chief complaints at referral, clinical symptoms, and VFSS findings were reviewed.
RESULTS: Total 11 patients (5 boys, 10 preterm babies, 37±2.6 weeks of gestational age) underwent
VFSS from November 2015 to May 2016. Among 11 patients, 9 patients showed gastroesophaeal
reflux during VFSS with various degrees. Additonally, 6 patients showed mild nasal regurgitation. For
7 patients whose chief complaint was vomiting or regurgitation, 7/7 (100%) showed
gastroesophageal reflux. In terms of severity, we grouped according to anatomical base how much
reflux occurred while VFSS, mild (below 1/3 of esophagus), moderate (around 1/2 of esophagus), and
severe (upper 1/3 of esophagus). Reflux was noticed after feeding various amount of milk, 5-30ml
(median 15 ml). Majority of patients was prescribed proton pump inhibitor empirically and kept on
according to VFSS findings and clinical manifestation. During the examination, 8 patients had
desaturation while they suck, and it began after feeding 3-20 ml of amount. Two patients showed
desaturation though their chief complaints were not desaturation or apnea.
CONCLUSION: VFSS was safe and useful to detect the patient’s feeding problem. According to VFSS’s
findings, we were able to guide feeding properly and plan for further evaluation. VFSS is informative
tool in assessment of feeding problems in newborns and further study is needed to define GERD
severity and their clinical implication.
71
FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY DUE TO
MUTATION IN THE RANBP2 GENE
Bembeeva R.1, Zacharova E.3, Monahova A.2, Drozdova I.2, Zavadenko N.1, Bembeeva A.1
1
Russian National Research Medical University Named After N.I.Pirogov, Moscow, Russian Federation
Morozov Children'S Municipal Clinical Hospital, Moscow, Russian Federation
3
Research Centre of Medical Genetics (RCMG) of the Russian Academy of Medical Sciences (RAMS), Moscow,
Russian Federation
2
Acute Necrotizing Encephalopathy is a rapidly progressing encephalopathy associated with acute
viral illnesses (more often influenza A and B, but sometimes other agents, including parainfluenza).
Main cause of familial and recurrent ANE1 is missense mutation in nuclear pore gene RANBP2 with
autosomal dominant inheritance. We introduce 6-year old male patient with ANE. Three weeks
before the current disease, he had acute viral respiratory infection. It is also known that the aunt of
this boy had an acute illness and died at the age of 11 from the same condition. Disease had
subacute onset with neurological signs: exotropia, followed by gait disturbance (unsteadiness when
walking), scanning speech. During the next few weeks neurological disorders were increasing:
bilateral ptosis, gross exotropia, hypotonia, exaggerated tendon reflexes, pathological reflexes in
feet, hyperkinesis, particularly myoclonus, dystonic attacks. A month after the onset:
ophthalmoparesis, disturbance of consciousness (coma), epileptic paroxysms, hypethermia. Stable
condition was noted after 2 months from the onset. Currently the patient is alive and stable, but has
a gross neurological deficit. Brain MRI: bilateral symmetrical lesions in subcortical nuclei, thalamus,
brainstem (hypodense on T1-weighted images and hyperdense on T2-weighted images and Т2FLAIR).
Gd – neg at the time of onset and Gd – pos in the area of subcortical nuclei 2 months after the onset.
Laboratory findings: No significant deviations. Infectious disease blood tests (ELISA, PCR) were
negative: EBV, CMV, HHV YI, HSV I-II, Txo, Enterovirus, Varicella-Zoster, Borrelia burgdorferi,
Mycoplasma hominis, TBEV. CSF analysis: cell count - 3/мм3, proteins – 0,2 g/l, Oligoclonal bands –
absent, PCR – EBV, CMV, HHV YI– neg. Mutational analysis of mtDNA: MELAS syndrome, MERRF,
NARP, etc. – negative. RANBP2 gene has been analyzed by the method of straight-line sequencing.
Missense mutation NM 006267.4: c.1754C>T(p.T585M), described in the international database for
mutations HGMD (CM090148) was detected. Thus, the patient was diagnosed with Acute necrotizing
encephalopathy 1 (ANE1).
SUMMARY: Clinical picture of ANE is dramatic, with continuous progression, and present with severe
encephalopathy with pyramidal and extrapyramidal signs. Brain MRI is very specific: symmetrical
multifocal lesions are bilateral in thalamus area, involving internal capsule, putamen, brainstem and
cerebellar. Features of severe oedema of thalamus area and posterior putamen at the height of the
disease. Contrast enhancement shows local breakdown of the blood-brain barrier and appears to be
a diagnostic assistance. Immunomodulating therapy by high-dose corticosteroids stabilized patient’s
condition.
72
GRAVITATIONAL MECHANISM DIAGNOSIS ON REFLEXIVE LEVEL OF
CHILDREN AT THIRTY-SIXTH WEEK OF LIFE
Serganova T., Serganova E.
City Children'S Hospital Of St. Olga, Sankt-Peterburg, Russian Federation
INTRODUCTION: Purpose and objectives of this study were identifying motor disorders on reflex
level, preventing abnormal movement patterns formation and motor development prognosis of
children with perinatal cerebral pathology, including leading to cerebral palsy.
MATERIALS AND METHODS: The following reflexes evaluated: oral and spinal automatism, postural
reflexes (with extension form of tonic labyrinthine reflex), chain symmetrical and asymmetrical
righting reflex by age range. Thirty-four children who underwent first course of treatment in early
neonatal period observed.
Traditional neurological status evaluation of a child in static position lying on table in horizontal
position is not enough for determining motor development level, as doesn’t give complete picture of
gravitational mechanisms status. Examination of a child in different planes proposed: positions on
back, stomach and side in addition to horizontal and vertical hover.
RESULTS AND DISCUSSION: Chain symmetric and asymmetric reflexes development by age range
and further formation of righting and balance reflexes (turn from back to stomach and from stomach
to back with torso shoulder and pelvic girdle; self-holding of sitting position, all fours position with
synchronous movement in it, standing on knees without help and moving in this position with little
assistance; positioning head in mid-physiological position from horizontal hovering on side; all these
allowed to diagnose child’s normal motor development at thirty-sixth week of life.
CONCLUSIONS: Child Development Specialist able to determine not only deficiency in development
of particular partial component of central nervous system, but also to evaluate correlation between
any abnormalities of partial functions. Any objective assessment of postural reflexes in pediatric
neurology contributes to early diagnosis of movement disorders at reflexive level, which leads to
prevention and reduction of disability among children with perinatal cerebral pathology.
73
IMPACT OF EARLY MOTOR EXPERIENCES ON THE INCIDENCE OF
DEVELOPMENTAL COORDINATION DISORDER
Drobež J.
Community Health Center Ljubljana, Outpatient Neurodevelopmental Clinic, Ljubljana, Slovenia
KEYWORDS: children, early motor experiences, developmental coordination disorder
AIM: Developmental coordination disorder (DCD) is defined as specific developmental disorder of
motor functions. The incidence of the disorder is about 6-10%. The aim of the study is to analyze the
impact of early motor experiences in five years old children. The idea was to determine whether or
not early proper motor experiences in terms of four limbs crawling influence on motor performance
at the age of five years.
MATERIALS AND METHODS: A group of 99 children has been studied. Inclusion criteria were: healthy
five years old child without neurologic disease or orthopedic disorder and without visual impairment
or developmental delay. Motor performance of the child was evaluated by MABC test (Motor
Assessment Battery for Children) - first version. On the basis of parental anamnesis regarding early
motor patterns children were categorized as crawlers and noncrawlers. At the same time data of
family history of possible DCD in close relatives were collected.
RESULTS: Preliminary results show no significant difference in incidence of DCD between the groups
of crawlers and noncrawlers. In the group of children diagnosed with DCD positive family history of
possible DCD in close relatives was significantly higher than in the group of children without DCD.
CONCLUSION: Obtained data showed no impact of early motor experiences on incidence of DCD in
the group of healthy five years old children. Positive family history of possible DCD in close relatives
seems to be a risk factor of the child to be later diagnosed with DCD.
74
KLEEFSTRA SYNDROME- CASE REPORT
Chroscińska-Krawczyk M., Zienkiewicz E., Mitosek-Szewczyk K.
University Children'S Hospital, Lublin, Poland
resulting from haploinsuficjencji gene EHMT1 (ang. Euchromatichistone-lysine N-methyltransferase
1) caused by a microdeletion in the region 9q34.3 or intragenic mutation. HMT1 dysfunction of a
gene leads to the development of disorders in the central nervous system (CNS). The main symptoms
of the Kleefstra syndrome relate to the nervous system. During infancy and early childhood it is the
hypotonia resulting in delayed motor development, and later the moderate or severe mental
retardation. A characteristic feature of this syndrome is also a facial dysmorphia. Additional nervous
system disorders are: microcephaly, behavioral disorders and epilepsy. Other systems and organs
characteristics of Kleefstra syndrome include hypothyroidism, urinary tract defects and heart defects.
The subject of this paper is to describe the case of a girl with Kleefstrasyndrome. It has been
confirmed by genetic testing: chromosome analysis using CGH technique to microarray- aCGH. The
study showed imbalance of the genome as a terminal deletions of the long arm of chromosome 9 in
band 9q34,3.
75
LANGUAGE AND LEARNING DISABILITIES IN TUNISIAN CHILDREN
WITH DUCHENNE MUSCULAR DYSTROPHY
Jeridi C., Ben Achour N., Benrhouma H., Klaa H., Ben Gouider S., Rouissi A., Kraoua I., Ben YoussefTurki I.
Research Unit Ur12 Sp24 And Department Of Child And Adolescent Neurology. National Institute Mongi Ben
Hmida Of Neurology, Tunis, Tunisia
INTRODUCTION: Duchenne muscular dystrophy (DMD), an X-linked disorder, is the most common
muscular dystrophy in children. Recent studies support emerging evidence of central nervous system
involvement resulting in language and neuropsychological disorders in DMD. The objective is to
report language deficits and learning disabilities in Tunisian children with DMD.
MATERIAL AND METHODS: Over 12 years (2004-2016), 24 boys were followed up in our department
for a genetically confirmed diagnosis of DMD. Neuropsychological evaluation including full-scale
intelligence quotient (IQ), memory assessment, verbal performances and executive dysfunction have
been performed. Language and learning abilities were evaluated. Correlation between dystrophin
gene mutation and language and learning disabilities were analyzed.
RESULTS: Mean age of patients was 9.9 years. General intelligence assessments showed a mean IQ of
75. Deficits in early language milestones were noted in 5 patients. Linguistic deficits involve mainly
expressive than receptive components. Six patients showed learning disabilities that affect reading
and writing. Severe dyslexia was noted in one patient. Impairment in working memory was found in
12 patients. Verbal performances and attention processes were altered in respectively 5 and 3
patients. Executive dysfunction was noted in 3 patients. Language deficits and learning disabilities
were correlated to the loss of Dp 140 isoform in 13 patients out of 18.
CONCLUSION: s Our results support emerging evidence of central nervous system involvement
resulting in language and learning disabilities in DMD. The loss of Dp 140 seems to be involved in the
pathological mechanism underlying these disorders. Language deficits and learning disabilities should
be systematically detected in DMD in order to improve patient’s management.
76
MARDEN–WALKER SYNDROME
Kolak Z.1, Matijević V.2, Kovačić D.2, Pinjatela R.1
1
Department Of Physical Medicine And Rehabilitation, Vinkovci, Croatia
Clinical Department Of Rheumatology, Physical Medicine And Rehabilitation, Sestre Milosrdnice University
Hospital Center, Zagreb, Croatia
2
INTRODUCTION: This study presents a case of a twelve year old girl with Marden–Walker syndrome.
Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder. Although it
affects both males and females, it is marginally more common in boys. There have been 30 cases of
Marden-Walker Syndrome reported in the world medical literature. The syndrome is characterized
by typical face malformations, blepharophimosis, microcephaly, micrognathia, multiple joint
contractures and delayed motor development. It is often associated with cystic dysplastic kidneys,
dextrocardia, and eyes abnormality. The exact genetic malfunction is not yet established, and
therefore there is no possibility of prenatal genetic diagnosis. Most of the signs of MWS are present
during the neonatal period. Differential diagnosis includes trisomy 13 and 18, infantile spinal
muscular atrophy, Freeman-Sheldon syndrome, Schwartz-Jampel syndrome and similar diseases. The
treatment of MWS is symptomatic and dependent upon the specific symptoms present in each
patient.
MATERIALS AND METHODS/RESULTS: A twelve year old girl reported in this study, was first
presented to the hospital at the age of three months when she experienced frequent respiratory and
urogenital infections. Her symptoms also included: vesicoureteral reflux, splenomegaly, epilepsy,
psychomotor retardation, dysmorphic head, micrognathia and muscular hypotonia. The girl was very
early involved in a complex rehabilitation program that incorporated: neurodevelopmental
stimulation, conventional medical gymnastic with Vojta’s and Bobath’s therapeutic concepts and
varieties of psychomotor-stimulation programs. In addition to these therapeutic methods, parents’
education and support revealed to be very important in providing domicile stimulation to the child
development from a very early age.
CONCLUSION: In conclusion, multidisciplinary management with particularly extensive
neurodevelopmental stimulation from early childhood helps with developmental problems and
shows to be a vital factor in managing the complex conditions associated with Marden–Walker
syndrome.
77
MESENCHYMAL STEM CELLS IN CHILD NEUROLOGY- CASE REPORT
Chroscinska-Krawczyk M.1, Zienkiewicz E.1, Mitosek-Szewczyk K.1, Boruczkowski D.2
1
Department Of Child Neurology, University Children’S Hospital, Lublin, Poland
Polish Stem Cell Bank, Warszawa, Poland
2
INTRODUCTION: Mesenchymal stem cells (MSC) were described initially by Thomas Wharton. In the
human body, MSC are located mainly in bone marrow, adipose tissue, muscle tissue, Wharton jelly
(WJ), cord blood and lungs. It has been demonstrated that MSC do not induce immune response. It
has been also proved that MSC, in vitro, have immunomodulatory effects on antigen presenting cells
(APC), Natural Killer cells (NK) as well as T and B lymphocytes. MSC obtained from the WJ compared
to MSC derived from other sources, have a higher proliferation potential. The reduced activity of proinflammatory cytokines, including interferon gamma (IFN-γ) and tumor necrosis factor alpha (TNF-α)
have been observed, in the case of MSC derived from WJ, more significant. There are many clinical
trials worldwide in neurological diseases based on the MSC.
MATERIAL AND METHODS: The aim of this study is to present the case of 8 year old girl with
cerebral palsy, which was treated with MSC. The patient received 5 intravenous preparation MSC in
the amount of 20 million cells each. The interval between injections was 8 weeks. Results and
CONCLUSION: After completion of therapy, and 5 a month of follow-up, significant improvement in
gross motor function. Our results and scientific reports suggest that MSC may in the future be used
to treat diseases of the nervous system in children.
78
MESENCHYMAL STEM CELLS IN NEUROLOGY- FIRST POLISH
EXPERIENCE
Chroscińska-Krawczyk M.1, Zienkiewicz E.1, Mitosek-Szewczyk K.1, Boruczkowski D.2
1
University Children'S Hospital,Neurology Department, Lublin, Poland
Polish Stem Cell Bank, Warszawa, Poland
2
INTRODUCTION: Mesenchymal stem cells (MSC) were described initially by Thomas Wharton. In the
human body, MSC are located mainly in bone marrow, adipose tissue, muscle tissue, Wharton jelly
(WJ), cord blood and lungs. It has been demonstrated that MSC do not induce immune response. It
has been also proved that MSC, in vitro, have immunomodulatory effects on antigen presenting cells
(APC), Natural Killer cells (NK) as well as T and B lymphocytes. MSC obtained from the WJ compared
to MSC derived from other sources, have a higher proliferation potential. The reduced activity of proinflammatory cytokines, including interferon gamma (IFN-γ) and tumor necrosis factor alpha (TNF-α)
have been observed, in the case of MSC derived from WJ, more significant. There are many clinical
trials worldwide in neurological diseases based on the MSC.
MATERIAL AND METHODS: The aim of this study is to present the case of 4 year old girl with
myelomeningocele, which was treated with MSC. The patient received 5 intravenous preparation
MSC in the amount of 10 million cells each. The interval between injections was 6-8 weeks. Results
and
CONCLUSION: After completion of therapy, and 5 a month of follow-up, significant improvement in
gross motor and cognitive function. Our results and scientific reports suggest that MSC may in the
future be used to treat diseases of the nervous system in children.
79
MYASTHENIA GRAVIS AND GRAVES' DISEASE IN TEENAGER DIAGNOSTIC PROBLEM. CASE REPORT
Klatka M.2, Zienkiewicz E.1, Mitosek-Szewczyk K.1
1
Clinic Of Paediatric Neurology, Faculty Of Paediatrics, Medical University Of Lublin, Lublin, Poland
Clinic Of Paediatric Endocrinology And Diabetology, Medical University Of Lublin, Lublin, Poland
2
INTRODUCTION: Despite the different clinical picture molecular studies often reveal a common
pathological mechanism of generalized myasthenia gravis and Graves' disease. We present a case of
14 year old girl with whom, at the same time both mentioned autoimmune diseases were
recognized. Case Report: Fourteen year old girl was hospitalized in the Department of Endocrinology
and Diabetology, Medical University of Lublin. Before hospitalization - during the past 2-3 months,
symptomatic episodes of fainting, rapid fatigue and approx. 3-5 kg body weight decreasing were
observed. Additionally, weakness, irritability, concentration disorders, palpitations, swallowing
difficulty, hoarseness and goiter, had been observed in the last two weeks before hospitalization. The
girl previously healthy. Family history revealed treated hyperthyroidism (mother and grandmother)
and aunt diagnosed with myasthenia gravis. Physical examination revealed a large patient anxiety,
high physical activity, tachycardia, crying, tremor, regurgitation eyelids, satin skin, second degree of
goiter. Laboratory studies have shown reduced level of TSH (0.01 mU/L), elevated levels of FT3 (30.72
pmol / l) and FT4 (50.46 pmol / L), high titers of antibodies / anti-TPO, anti-TG / and antibodies
against the TSH receptor. Ultrasound examination revealed marked enlargement of the thyroid gland
with increased vascularization. Clinical symptoms and hormonal parameters allowed the diagnosis of
Graves' disease. The treatment (Metizol, Propranolol) reduced the symptoms associated with
hyperthyroidism and state of euthyreosis was achieved. However, the patient's condition was
deteriorating - weakness; fatigue; nasal and slurred speech; weakness of tongue muscle; choking;
difficulty swallowing, biting and breathing. In a clinical study there was insufficiency of the eyelids,
facial expressions changing (cross smile). Extended diagnosis of CNS MRI ruled proliferative lesions.
Antibodies against the acetylcholine receptor were indicated. The clinical picture and elevated
antibody titer against the acetylcholine receptor (19.0 nmol/l) indicated myasthenia gravis. Standard
treatment for this disease improved the function of breathing and swallowing. Antithyroid
maintenance therapy was continued. Further studies confirmed the severe form of generalized
myasthenia gravis (IIb MGFA). Treatment with cholinesterase inhibitors, immunosuppressive
therapy, and thymectomy were performed.
CONCLUSION: The awareness of the coexistence of autoimmune diseases in conjunction with high
potential diagnostic (autoantibodies, molecular genetics) may help in earlier diagnosis and prevent
many complications. Determination and analysis of autoantibodies particularly in those with a family
history and in patients who have already been diagnosed with a disease of autoimmunity, may be an
important marker for diagnostic and prognostic development of many autoimmune diseases.
80
NEURODEVELOPMENTAL DISORDERS SPECTRA IN CHILDREN
WITH HEARING LOSS
Palchik A.1, Yurieva D.
1
State Paediatric Medical University, St.Petersburg, Russian Federation
AIM: To assess neurodevelopment of children with hearing disorders.
MATERIALS AND METHODS: At Out-Patient Clinic for Children with Hearing and Speech Deprivation
we examined 100 babies under 3 y.o. with confirmed degree or type of hearing loss. Children
underwent routine somatoneurological examination, otoacoustic emissions and auditory brainstem
evoked response audiometry. Neurodevelopment dynamics: Alberta Infant Motor Scale (aims )
(1994), Denver Developmental Screening Test (DDST) (1967), Griffiths Mental Development Scales
(GMDS) (Griffiths, 1954, 1976).
RESULTS: Examined children were classified as follows: 36 babies had hypoxic-ischemic
encephalopathy (HIE); 20 – stable hyperbilirubinaemia. Cranial ultrasound demonstrated
ventriculodilatation in 11 cases, intraventricular haemorrhage (IVH) – in 12, periventricular
leucomalacia – in 11. Auditory neuropathy was diagnosed in 11 cases; sensoneural hearing loss
(SNHL) 1 level – in 8, SNHL 2 – in 10, SNHL 3 – in 9, SNHL 4 – in 73. aims assessment showed motor
delay in 18 infants. Speech delay was found in 48 babies, performance disorder – in 9, fine motor
coordination lack – in 18, motor delay – in 21 (by means of DDST). GMDS demonstrated locomotor
development lag in 7 cases, speech delay – in 52, eye–hand coordination disorder – in 15, practical
reasoning – in 30, performance – in 12. Total developmental retardation by sum of all subscales was
detected in 25 cases. Children with hearing deprivation had more frequently speech delay than other
disorders detected by means of DDST and GMDS (χ2 = 24.41–60.61). Spearman analysis showed mild
negative correlation between severity of HIE or IVH and fine/gross motor performance, assessed by
means of aims (r = -0.24). Speech disorders, detected with appropriate subscales DDST and GMDS,
depended on hearing loss stage (r = -0.47).
CONCLUSION: Infants with hearing deprivation have various, mainly speech, neurodevelopmental
deviations. Causes of locomotor delay are unclear, may be explained by primary brain damage or
motor learning deficit due to sensory deprivation.
81
NEUROTOXICOLOGICAL MANIFESTATIONS AMONG DRUG
ABUSERS ADMITTED TO ALEXANDRIA POISON UNIT AND
ALMAMORA HOSPITAL: PROSPECTIVE STUDY
Ghanem M.1, Megahed H.1, Hamed A.2
1
Faculty Of Medicine - Alexandria University, Alexandria, Egypt
Al Maamora Hospital, Rabat, Morocco
2
BACKGROUND: When a patient present with a neurological or neuromuscular disorder, it is essential
to consider drugs as a possible cause. One of the cardinal principles of neurotoxicity is localization.In
general, the signs and symptoms of drug-induced neurological disorders are virtually
indistinguishable from those seen in naturally occurring disease but are usually reversible if
diagnosed early enough.
AIM OF THE STUDY: To determine the potential health risk from exposure to toxic agents and assess
facilities for the investigation of neurotoxicity.
PATIENTS AND METHOD: A prospective study was carried out on all poisoned patients admitted to
Alexandria poison unit (APU) with neurotoxicological manifestations and all drug abusers admitted to
Almamora hospital (MH)within 6 months of the study (who are legible for exclusion and inclusion
criteria). All patients assessed for; personal data, full history of medications and accidental,
intentional, and occupational exposures, psychiatric history, mental state examination, full
neurological examination was carried out.
RESULTS: Males outnumbered females (83%, 77%0) admitted MH and APU respectively.59% of
patients were unemployed for those admitted to APU (59%). Drivers or manual workers represented
the main sample in MH (71%).All the patients were smokers in MH and 66.5 % in APU. All case was
suffering from withdrawal manifestations due to drug abuse in MH and from drug overdose in APU.
Drug used by patients in MH were tramadol, cannabis, heroin and benzodiazepine mainly. As regard
APU, it was found that alcohol abusers, sedative hypnotics, opioid abusers, cannabis, CNS stimulants
abusers and hallucinogen was the main drugs used. There was significant relation between; criminal
history and type of drug, age, sex, education and occupation and between smoking and reasons for
taking high dose of drugs
CONCLUSION: Preventive and curative measurements in a specially designed health care program
should be carried out, trained personnel, media, laws and effective non-governmental leadership
toward a more reasoned approach to drug abuse should be directed to all youth to show them the
effect of drug of abuse and avoid glamorization of its effect. Key words: Neurotoxicologic
manifestations, drug abuse, intoxication.
82
NON EPILEPTIC PAROXYSMAL EVENTS IN CHILDHOOD
El Mabrouk E., Ben Rhouma H., Klaa H., Ben Achour N., Rouissi A., Kraoua I., Ben Youssef-Turki I.
National Institute Mongi Ben Hmida Of Neurology, Tunis, Tunisia
INTRODUCTION: Non epileptic paroxysmal movement disorders (NEPMD) are a distinctive group of
disorders characterized by intermittent and episodic disturbances of movement. They span in age
from neonate to young adult and they can mimic epileptic seizures.
METHODS: From 2004 to 2016, 11 patients were followed up in the department of Child and
Adolescent Neurology for NEPMD. Clinical, neurophysiological features and treatment were
analyzed.
RESULTS: Eleven patients (5 girls, 6 boys) with NEPMD were followed up in our department. Their
symptoms began within the first 2 years of life. Five patients showed paroxysmal dystonia as the
main symptom of multiple sclerosis. Three children without past medical history presented with
bizarre nature of myoclonus. In these 3 patients, all investigations including laboratory testing and
MRI were normal. The diagnosis of psychogenic gait disorders was suggested. A syndrome of
alternating hemiplegia of childhood was diagnosed in 2 children who had Hemiplegic spells
accompanied by rotatory nystagmus. Another patient presented paroxysmal exertion-induced
dystonia and predominant choreoathetosis worsened after physical exertion. The diagnosis of GLUT1
was confirmed by CSF analysis and genetic study in the last case.
CONCLUSION: NEPMD are usually misdiagnosed in childhood. Paroxysmal dystonia is the most
common clinical features in this disorder. NEPMD should be evoked in every child with paroxysmal
movement disorder with normal EEG. Recognition of NEPMD is important for clinical practice since it
is potentially treatable.
83
PARENTS'HANDBOOK ABOUT CHILDHOOD IMMUNISATION
Colombo V.1, Manzi O.2, Denti R.3, Genovese U.4
1
Asst Bergamo Ovest, Romano Di Lombardia (Bergamo), Italy
ASST Melagnano E Martesana, Melzo, Italy
3
ASST Melagnano e Martesana, Melzo, Italy
4
Milan University, Milan, Italy
2
INTRODUCTION: In literature, the vaccine damage was causes by adverse reactions to vaccines
poorly preservatives the 'cold chain' or 'expired' and mistakenly administered. In general, everyone
involved had been damaged, therefore, it was the entire vaccine lot to be out norm. The
compensation recognized, in foreign countries, had been substantial and compensated in historical
'class-action'. Autism was an experience everyday so complex and difficult in family and social level,
which for decades seemed better to find in part a plausible explanation with a causal and temporal
link in discussed cases law, including for medical examiners, lawyers, judges and desperate parents.
MATERIAL AND METHODS: Consultants and lawyers followed the request for ASD cases and
compensation under Law 210 of 1992, already recognized for polio vaccine damage and Guillain
Barré Syndrome after the influenza vaccination season. Scientific medical studies and DSM-5 show
that the multifactorial nature instead of autism spectrum disorder (ASD) is so complex that only
thanks to a family history can be diagnostic a primary cause genetic, congenital, childbirth or a
secondary form caused by metabolic and nutritional dysfunctions.
RESULTS: The Framework Law on Autism approved in 2015 and the various recent regional decrees
promise 'taking care' of these children. However, before doing a diagnosis of ASD should be, by a
new law, to the birth promptly screening with metabolic tests. The early prescribe about behavioral
therapies just recognized by the Linea Guide, oblige to include them as soon as possible in school and
then in the work.
CONCLUSION: s We conclude that prevention of psychiatric illness it is now possible. International
data reveal that in development country the future of educational and job placement programs for
ASD children and adolescents are now individualized. Educational programs with periodic Applied
Behavior Analysis, according to Ministerial directive, could bring employment work even for those
with severe disabilities and comorbidities.
84
PARKINSONISM IN CHILDHOOD
Zeineb B., Hanène B., Hédia K., Nadia B., Aida R., Ichraf K., Ilhem T.
Child And Adolescent Department Of Neurology, Tunis, Tunisia
INTRODUCTION: Parkinsonism is an uncommon movement disorder and usually misdiagnosed in
childhood. The aim of our study is to report on clinical features, brain MRI findings, etiologies,
treatment and outcome of 20 children with parkinsonism.
METHODS: From 2004 to 2016, 20 children were followed up in our department for parkinsonism.
Clinical and radiological features, treatment and outcome were analyzed.
RESULTS: Twenty children (11 girls and 9 boys) were followed up in our department. The mean age
at onset was 5 years. All patients had akineto-rigid parkinsonism. Main associated movement
disorder was dystonia (9/20 cases). MRI showed involvement in substancia Nigra in 50% of our
patients. Main etiologies observed were infectious and metabolic diseases. Levodopa therapy
improved parkinsonism symptoms in all subjects and only two patients developed fluctuations and
dyskinesias.
CONCLUSION: Few studies focused on parkinsonism in childhood. According to literature,
bradykinesia and rigidity were the major clinical signs. Brain MRI showed basal ganglia involvement
in half of our patients, it should be performed in every child with parkinsonism to detect involvement
of dopaminergic pathway. Levodopa therapy should be started early to improve clinical features.
85
PAROXYSMAL NONKINESIGENIC DYSKINESIA
Drobež J.1, Rener Primec Z.2
1
Community Health Center Ljubljana, Outpatient Neurodevelopmental Clinic, Ljubljana, Slovenia
University Pediatric Clinic, University Clinical Center Ljubljana, Ljubljana, Slovenia
2
KEYWORDS: Paroxysmal nonkinesigenic dyskinesia, paroxysmal dyskinesia, paroxysmal movement
disorders, cerebral paroxysms in infants.
INTRODUCTION: Paroxysmal nonkinesigenic dyskinesia (PKND) is a form of paroxysmal dyskinesia
precipitated by some physiological stress or imbalance or ingestion of alcohol, coffee of tea. A
disorder is characterized by sudden episodes of distonic and/or choreathetotic movements or
variable duration (few minutes to several hours) and variable frequency. Movements are mostly
bilateral and generalized, localized on the face and extremities. Episodes may begin from infancy to
adulthood or even older age. Male preponderance has been established. PKND is a very rare
disorder. The prevalence is estimated to be 1 in 1,000,000. The condition may be inherited as an
autosomal dominant trait with high penetrance. The disorder has been mapped to chromosome
2q31 - 36 region. The disorder may be sporadic or symptomatic commonly reported in association
with multiple sclerosis or vascular thalamic lesion. The pathophysiology of PNKD still remains to be
elucidated but thalamic lesion or lesion of thalamocortical circuits are considered most likely to be
the basis of the disorder. The frequency of the attacks usually decreases with age. Drug treatment is
rarely necessary. Avoidance of precipitating factors is recommended. In severe and refractory cases
deep brain stimulation is a therapeutic option.
AIM: The aim of this case report is to present a very rare disorder. The significance of the disorder in
infancy is to consider the disorder in differential diagnosis of cerebral paroxysms and infantile
epilepsy.
SUBJECTS AND METHODS: Our case report discusses PNKD in infancy and early childhood. Epilepsy
has been ruled out by performing video - EEG and EEG recordings. Head MRI showed some
nonspecific changes in the white matter of the brain. MR spectroscopy was inconclusive but
generally did not reveal major metabolic disorder. Sandiffer syndrome has been excluded. Due to
adverse prenatal history (placental dysfunction and oligohydramnios) secondary form of PNKD has
been considered. However, the mother reported to have had some stereotypic movements in
childhood most likely to be dyskinesias, so familiar form of PNKD has been suspected. The child has
been referred to the geneticist. RESOULTS: The outcome in our patient was excellent. Without any
therapy episodes of PNKD gradually disappeared and by the age of four she was paroxysms - free.
Her developmental profile is within normal limits. Currently she is healthy and normally developed
five years old girl and will enter elementary school next year. Due to some minor articulation
difficulties she has been referred to the speech therapist.
CONCLUSION: In spite of being a very rare disorder PNKD should be considered in the differential
diagnosis of paroxysmal disorders in infancy and childhood. Extensive investigation should be
performed to rule out some underlying condition in secondary symptomatic forms of PNKD. Due to
mostly benign course and spontaneous resolution of the disorder treatment is usually not necessary
but avoidance of precipitating factors is strongly recommended.
86
PLA2G6-ASSOCIATED NEURODEGENERATION (PLAN): CLINICAL
AND GENETIC STUDY OF LARGE NORTH-AFRICAN COHORT
Kraoua I.1, Benrhouma H.1, Drissi C.2, Klaa H.1, Ben Achour N.1, Rouissi A.1, Valente E.3, Ben YoussefTurki I.1
1
Department Of Child And Adolescent Neurology, National Institute Mongi Ben Hmida Of Neurology. Tunis.
Tunisia, Tunis, Tunisia
2
Department Of Neuroradiology, National Institute Mongi Ben Hmida Of Neurology, Tunis, Tunisia
3
IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy; Section of
Neurosciences, Department of Medicine and Surgery, University of Salerno, Salerno, Italy
INTRODUCTION: Mutations in the PLA2G6 gene are causative of PLA2G6-associated
neurodegeneration (PLAN), a spectrum of neurodegenerative conditions including infantile,
childhood and adult onset forms.
METHODS: Seventeen North African patients with a clinical suspicion of infantile-onset PLAN
underwent clinical, Biological, neurophysiological and neuroimaging examinations, and PLA2G6
sequencing.
RESULTS: All patients carried biallelic mutations in PLA2G6. Sixteen children had the commonest
form of infantile-onset PLAN, with early onset of psychomotor regression, hypotonia, pyramidal and
cerebellar signs, and abnormal ocular movements. The phenotype was highly homogeneous, with
rapid development of severe spastic tetraparesis, cognitive impairment and optic atrophy. Fifteen
patients underwent routine biochemical testing. All patients showed mildly increased levels of
aspartate amino-transferase and lactate dehydrogenase even at early stages of the disease.
Neuroimaging showed cerebellar atrophy and claval hypertrophy to be the commonest and earliest
signs, whilst cerebellar cortex hyperintensity and pallidal iron deposition were later findings. Motor
or sensory-motor neuropathy and electroencephalogram fast rhythms were also frequent. Nine
patients from six families shared the same founder mutation (p.V691del) which probably arose by
the late seventeenth century. Only one patient fitted the diagnosis of the much rarer childhoodonset PLAN. Despite the early onset (18 months), clinical progression was slower, with behavioral
disturbances and dystonia. Typical features of infantile-onset PLAN such as hypotonia,
nystagmus/strabismus, optic atrophy, electroencephalogram fast rhythms and motor neuropathy
were absent. Cerebellar atrophy, claval hypertrophy and pallidal hypointensity were evident at brain
magnetic resonance imaging. This patient carried a missense variant predicted to be less deleterious.
CONCLUSION: The PLAN-associated phenotypes are delineated and a common North African
founder mutation is identifed. Elevated AST/ALT ratio associated to high LDH values, could be
considered a potential supportive biomarker to point towards the diagnosis of PLAN even in the very
early stages of the disease.
87
POLR1C MUTATION: A RARE CAUSE OF HYPOMYELINATING
LEUKODYSTROPHY
El Mabrouk E.1, Kraoua I.1, Benrhouma H.1, Klaa H.1, Ben Achour N.1, Rouissi A.1, Dorboz I.2, BoesflugTanguy O.2, Ben Youssef Turki I.1
1
Depatment Of Child And Adolescent Neurology. National Institute Mongi Ben Hmida Og Neurology. Tunis,
Tunisia, Tunis, Tunisia
2
Umr1141, Inserm, Neuroprotection Du Cerveau En Développement, Hôpital Robert Debré, Paris, France
INTRODUCTION: RNA polymerase III (POLR3)-related leukodystrophy is an autosomal recessive
neurodegenerative disorder caused by mutations in POLR3A and POLR3B gene. Recently Thiffault et
al have identified a new gene POLR1C encoding a shared POLR1 and POLR3 subunit and related to
this disorder. We report on a Tunisian girl with POLR1C mutation and discuss clinical and imaging
findings.
CASE REPORT: A 23-year-old girl was born to Tunisian healthy consanguineous parents. She had no
similar illness in her family. She had a normal psychomotor development. At 5 years, she presented
unsteady gait, dysarthria, hand tremor and movement disorders. Neurological examination at 13
years old showed mild mental retardation, cerebellar syndrome, tetrapyramidal syndrome, mixed
movement disorders with generalized dystonia and severe myoclonus. Fundoscopic examination was
normal. She had no dental abnormalities and no signs of hypogonadism. Brain MRI at 14 years old
and 21 years old, showed on the T2-weighted images diffuse hyperintense signal of the
supratentorial cerebellar white matter, and hypointensity of the ventrolateral thalamus. T1 sequence
showed a diffuse isosignal of the sustentorial white matter suggesting an hypomyelinating process.
Cerebellar atrophy is associated with a thin corpus callosum. Electroencephalography,
electromyography and evoked potentials were normal. NGS leukodystrophy-panel containing twenty
six most frequently involved genes including the POLR3A and POLR3B genes was negative. Sanger
sequencing of the coding regions of POLR1C gene revealed a novel homozygous mutation (c.863T>C/
p.Phe288Ser).
CONCLUSION: Our observation confirms that the analysis of POLR1C gene is an additional way for
POLR3-related leukodystrophy diagnosis in which severe non epileptic myoclonus and T2
hypointensity of the thalamus were not yet reported.
88
RASMUSSEN ENCEPHALITIS
Haifa K., Hedia K., Hanene B., Nadia B., Ichraf K., Ilhem T.
Department Of Child And Adolescent Neuorology,National Institute Mongi Ben Hmida, Tunis, Tunisia
INTRODUCTION: Rasmusen encephalitis (RE) is a rare chronic inflammatory disease, characterized by
unilateral atrophy of the cerebral cortex, intractable focal epilepsy, progressive neurological
deterioration with cognitive decline.
MATERIAL AND METHODS: we report 2 patients with Rasmusen encephalitis followed at the
Department of Child and Adolescent Neurology. The clinical features, electroencephalographic and
imaging findings were analyzed.
RESULTS: 14 year-old boy (P1) and a 7 year-old girl (P2). Age of onset of the disease was 10 and 4
years. They presented focal seizures with clonic hemicorporal seizures (P1) and focal occipital
seizure (P2) . They developed progressive hemiparesis, hemidystonia and cerebellar ataxia (P2) with
behavioural problems and decline school performance. Cerebral MRI showed in 2 cases
hyperintensity T2 /FLAIR ipsilateral white matter caudate nucleus, tempora l insular structure and
unihemispheric focal cortical atrophy associated with crossed cerebelar Diaschisis ( P2). EEG showed
unihemispheric slowing with focal epiletiform activities. Endocrine investigations (P1) showed
thyreotrope and corticotrope deficiency. They received association of antiepileptic drugs, with initial
partiel improvement and intractable epilepsy after 12-24 months, with partiel status epilepticus (P1).
RE was diagnosed and treatment was performed based on steroid pulse therapy for second patient
(30mg/kg/day of methyl prednisolone for 3 days, monthly for 12 months), and partiel improvement
of epilepsy.
CONCLUSION: RE is rare and typically starts in childhood. Diagnoses of RE is generally based on the
clinical and radiological features. Despite increasing evidence of an underlying immune process, the
primary cause remains unknown. Different therapy strategies are proposed (surgery,
immunomodulatory and immunosuppressive therapies). Corticoisteroides have been reported the
most effective therapy, to stop disease progression.
89
RISK FACTORS OF ISCHAEMIC STROKE DEVELOPMENT IN
CHILDREN
Palchik A.1, Minin A., Plotnikova S.
1
State Paediatric Medical University, St.Petersburg, Russian Federation
Medical Informational Analytic Center, St.Petersburg, Russian Federation
2
AIM: To define risk factors of ischaemic stroke development in children.
MATERIALS AND METHODS: 47 children (20 male, 13 female), aged 6 mnths–17 y.o., with acute
arterial ischaemic stroke (AAIS) were observed at Neurosurgical Department of Child Hospital. They
underwent routine somatoneurological examination, neuroimaging (MRI and/or CAT), Doppler
ultrasonography of cerebral blood flow. Blood clotting screening was made in all cases, 10
thrombophilia genes were observed in 18 cases during acute stage of disease (1–21 days).
Quantitative assessment of neurological deficit was performed with pediatric National Institutes of
Health Stroke Scale (pedNIHSS), outcome assessment – with Pediatric Stroke Outcome Measure
(PSOM). The results were processed with standard programme Statistica 10.0 for Windows. Besides,
method of partial least squares 1 (PLS1) was used.
RESULTS: Three children had previous transitory ischaemic attacks. Antecedent head injury was
found in 26 babies. The most important clinical signs: hemiparesis (38 cases), mimic muscles palsy
(29), lethargy (28), somnolence (19). Stroke located in carotid blood circulation territory in 43 cases,
in vertebrobasilar one – in 4 cases. PedNIHSS mean value in emergency – 6.6 ± 5.9, before discharge
from Hospital – 2.2 ± 4.0. Corresponding parameters of PSOM: 1.4 ± 0.9 – before discharge from
Hospital, and 0.7 ± 0.7 at 1-year outcome. Neurovisualization demonstrated predominance of
ischaemic foci in lenticulostriate arteries circulation zones. Application of PLS1 demonstrated that
development and dynamics of ischaemic stroke in infants are formed by complex organized hierarchy
factors of different nature (age-dependent, anamnestic, morphological, clinical). The most significant
factors explaining significant specific weight (89.1%) of PSOM variable’s dispersion are: vertigo,
consciousness disorder, feeding problems, ataxia, ischaemic foci in carotid blood circulation territory.
CONCLUSION: Obtained data allow us to assume that ischaemic stroke in children develops due to
combination of factors of different nature, has individual trajectory of pathogenetic mechanisms and
clinical course.
90
SPEECH DEVELOPMENT FEATURES OF CHILDREN WITH SPASTIC
FORMS OF CEREBRAL PALSY
Serganova T.
City Children'S Hospital Of St. Olga, Sankt-Peterburg, Russian Federation
INTRODUCTION: Thirty-two children with early spastic forms of cerebral palsy (with five-year
catamnesis) were observed; assessment of speech motor analyzer and speech development level
performed. The following interrupted speech development: pseudobulbar disorders, hyperkinesis,
oral synkinesis, oral cavity resonating part defects. Most important - vocal apparatus muscles
pathology. Tongue muscles hypertonus detected on early stages; therefore wrong mouth position,
sharp deflection to back among one-third of children, tongue tip non-development in sixty-five
percent of cases, which raised to hard palate of mouth in cup form when crying in twenty-five
percent or tongue deviation in one or another direction in eighteen percent.
MATERIALS AND METHODS: Articulation apparatus and levels of pre-speech development
assessment on first year life made by traditional methods General speech underdevelopment level
among children older than two years evaluated: the first level - when child's active vocabulary in its
infancy. Speech by phrases practically absent. Speech understanding only situational. Speech poorly
understandable to others; the second level - active vocabulary contained not only nouns and verbs,
but also adverbs and adjectives. Start of using phrases, but sound and word pronunciation, as a rule,
greatly disturbed; the third level – along with relatively full speech inaccurate knowledge and use of
many everyday words. Lack of grammatical maturity. Inaccurate sound pronunciation and speech
patterns violation. Speech understanding slightly limited. Results and discussion. Speech
development was interrupted more than motility. By five years of observation general speech
underdevelopment was of third level in forty-seven percent, it was of second level in eighteen
percent and of first level in ten percent. These impeded social adaptation and integration of children
in society and call for timely (synchronous) corrections of both motor and speech functions.
91
TENSION-TYPE HEADACHES AND CO-MORBID CONDITIONS IN
CHILDREN AND ADOLESCENTS
Nesterovskii I., Zavadenko N., Shipilova E.
Pirogov Russian National Research Medical University,Pediatric Faculty, Neurology, Neurosurgery And
Medical Genetics Department, Moscow, Russian Federation
AIMS: to study the influence of TTH on daily activities and incidence of co-morbid conditions in
pediatric patients including emotional disorders, fatigue syndrome and autonomic dysfunction.
MATERIALS AND METHODS: 50 patients (21 boys and 29 girls) aged 7-17 years with frequent
episodic and chronic TTH were examined. The diagnosis was established on the basis of the
International Classification of Headache Disorders II diagnostic criteria. The assessment of headache
influence on daily life was carried out by HIT-6 [Kosinsky M. et al, 2003]. Parents and children were
interviewed using R.A. Barkley [1997] neurobehavioral assessment. For the assessment of fatigue
manifestations the Multidimensional Fatigue Inventory (MFI-20) [Smets E.M. et al, 1995] was used
containing 20 items grouped into 5 subscales. Cardiointervalography was done for the assessment of
autonomic dysfunction.
RESULTS: according to the results of the HIT-6 index, the influence of TTH on the quality of life was
estimated as moderate in 54% and marked in 26 % of patients. Осталосьеще 20% Anxiety disorders
were diagnosed in totally 80% of patients, among them specific phobias in 58%, sociophobia in 48%,
generalized anxiety disorder in 34% and combination of their several forms in 54%. Dysthymic
disorder was confirmed in 12% of patients, depressive disorder in 10%. Manifestations of chronic
fatigue syndrome were revealed in 72%. The average total score for MFI-20 in our group of patients
with TTH was 58,2±1,9. The scores for MFI-20 subscales had attained 13,2±0,6 for “the general
fatigue”, 12,3±0,5 for “the lowered activity” 11,2±0,6 for “the physical fatigue”. According to the
cardiointervalography data the majority of patients (70%) had parasympathetic prevailing, 14% had
sympathetic prevailing and only 16% of patients had normal balance of the autonomic nervous
system.
CONCLUSION: anxiety disorders, fatigue syndrome and autonomic dysfunction are prevalent in child
and adolescent patients with TTH. The clinical features of TTH and their course are dependent on the
co-morbid disorders and their expression. TTH combination with anxiety disorders and fatigue
syndrome give worsening of the headaches course. Thus, not only characteristics of TTH, but also
manifestations of the co-morbid disorders must be considered for the management of TTH in
children and adolescents and optimal choice of pharmacotherapy.
92
THE DEVELOPMENTAL ABILITIES ASSESSMENT IN CHILDREN WITH
IDIOPATHIC EPILEPSIES
Shadrova A.1,2, Zavadenko N.1, Shchederkina I.1,2
1
Pirogov Russian National Research Medical University, Moscow, Russian Federation
Morozov Children’S City Hospital, Moscow, Russian Federation
2
Idiopathic epilepsies are generally considered as remarkably benign childhood epileptic syndromes in
terms of their pharmacotherapeutic control, clinical evolution and prognosis. However, the longterm psychosocial outcome may be ambiguous, even in patients whose seizures eventually
spontaneously remit. 21 pediatric epileptic patients (11 male, 10 female) aged from 5,5 to 8 years
underwent neurodevelopmental assessment as measured on the Griffiths developmental scales. All
patients had established diagnosis of idiopathic epilepsies, including benign childhood epilepsy with
centrotemporal spikes (6), Panayiotopoulos syndrome (6), childhood absence epilepsy (5), eyelid
myoclonia with absences or Jeavons syndrome (4). In all patients therapeutic remission was achieved
on the appropriate dosages of antiepileptic drugs. The Griffiths Scales (Luiz D. et al., Griffiths Mental
Development Scales – Extended Revised. Two to Eight Years. Administration Manual. Oxford:
Hogrefe, 2006) is a developmental test for the children aged from two up to eight years. It has six
subscales to examine the developmental abilities, namely: 1) Locomotor, 2) Social personal, 3)
Hearing and speech, 4) Eye-hand co-ordination, 5) Performance, 6) Practical reasoning. According to
the assessment results, the delay for 3 months or more was found in the development of locomotor
abilities in 18 epileptic children, 13 – in social personal domain, 13 – in speech and language
development, 18 – in eye-hand co-ordination, 17 – in performance area, 15 – in practical reasoning.
Moreover, many patients demonstrated low performance with the scores corresponded to the
developmental delay of one year or more, namely 9 in locomotor abilities, 7 – in social personal
domain, 4 – in speech and language development, 8 – in eye-hand co-ordination, 9 – in performance
area, 15 – in practical reasoning. Thus, the effects of epilepsy on motor, cognitive and sociobehavioural development is of great importance not only in severe forms but also in clinically benign
idiopathic epilepsies. The Griffiths scales are a useful tool to determine the delay in the key
developmental domains in pediatric epileptic patients.
93
THERAPEUTIC APPROACH: OROFACIAL-MOTOR EXERCISES IN
REHABILITATION OF MUSCULAR DYSTROPHY
Matijević V.1, Kraljević M.2
1
Clinical Department Of Rheumatology, Physical Medicine And Rehabilitation, Sestre Milosrdnice University
Hospital Center, Zagreb, Croatia
2
Igra Riječi J.D.O.O., Zagreb, Croatia
INTRODUCTION: Muscular dystrophy is one group of genetic diseases characterized by progressive
weakness and muscles abnormality degeneration without a central or peripheral nerve. Muscular
dystrophies are marked by muscle weakness as the major symptom which causes: generally clumsy
movement and frequently falls, difficulty in climbing stairs, unable to jump or hop normally and leg
pain. Also, except above named symptoms, muscle weakness reflects on facial muscles and causes
facial weakness, limited tongue, lip, and jaw movement, inability to close eyes or whistle, which is
affected on speech. Orofacial-motor exercises are no speech activities which involves movements of
facial muscles, lips, jaw, tongue, soft palate and has important role in performing variety orofacial
functions like speech, masticating and swallowing. Above named exercises are methods to increase
strength and motion control of orofacial musculature. Aim of the research was to examine and prove
the efficiency of conducting orofacial exercises in speech therapist rehabilitation of children with
muscular dystrophy, strengthening orofacial musculature and the efficiency of muscle tone
improvements (two hypotheses). The sample covers two girls with different diagnoses of muscular
dystrophy which were involved into a six month therapy in providing orofacial exercises.
MATERIALS AND METHODS: Materials used in this research were various tools which helps
strengthen of orofacial muscles. Processing method were compared in three time point’s analyzed
with descriptive analysis.
RESULTS: Research results indicate the effectiveness of using orofacial exercises in speech and
language rehabilitation of orofacial weaknesses of muscle dystrophy.
CONCLUSION: Based on the results, we can conclude that the both hypothesis mentioned in the
research are accepted, i.e., the assumption has confirmed that the level of patients strength of
orofacial musculature has increased significally such as facial muscle tone. Key words: muscular
dystrophy; orofacial musculature; orofacial movements, rehabilitation therapy;
94
Index of Authours
Dass S. · 64
Delalić A. · 61
Dennis C. · 15
Denti R. · 84
Djuranovic V. · 27
Domagalska-Szopa M. · 9
Donmez A. · 53
Dorboz I. · 55, 88
Dosen D. · 48
Drissi C. · 57, 87
Drobež J. · 74, 86
Drohaitseva D. · 37
Drozdova I. · 72
Dulic R. · 48
A
Abdelmoneim M. · 42
Aboismaiel L. · 42
Aida R. · 85
Aleynikova O. · 37
Aliu F. · 23
Anwar M. · 14
Azem A. · 38
Azemi M. · 23
Azucena Delgado Ochoa M. · 60
B
E
Baldi D. · 29
Bejiqi R. · 23
Bembeeva A. · 35, 72
Bembeeva R. · 5, 35, 72
Ben Achour N. · 55, 57, 58, 76, 83, 87, 88
Ben Gouider S. · 76
Ben Hammouda M. · 57
Ben Rhouma H. · 83
Ben Youssef Turki I. · 58
Ben Youssef Turki Ilhem · 88
Ben Youssef-Turki I. · 55, 57, 76, 83, 87
Benjak T. · 48
Benrhouma H. · 55, 57, 58, 76, 87, 88
Berkley J. · 32
Blue M. · 40
Boesflug-Tanguy O. · 55, 88
Bologov A. · 5, 35
Bonatti M. · 29
Boruczkowski D. · 78, 79
Brahem Z. · 55
Ediberidze T. · 66
El Mabrouk E. · 83, 88
Elmenabbawy M. · 42
F
Fatemi A. · 36
Filimonov D. · 63
G
Gagoshidze T. · 66
Gavric D. · 48
Genovese U. · 84
George S. · 32
Gerguri A. · 23
Ghanem M. · 82
Gogatishvili N. · 66
Goikhman I. · 3, 4
Goleva O. · 46
Goltvanits G. · 17
Gorelik E. · 11, 46
Gushchina L. · 37
C
Canbal M. · 53
Ceri A. · 27
Chroscinska-Krawczyk M. · 78
Chroscińska-Krawczyk M. · 75, 79
Coduti A. · 29
Coen Herak D. · 27
Colombo V. · 29, 84
Cvitanovic-Sojat L. · 48
H
Haifa K. · 56, 89
Hajrić Z. · 61
Hamed A. · 82
Hanene B. · 56, 89
Hanène B. · 85
Harasymczuk J. · 33
D
Dai A. · 59
95
Hashish A. · 14
Hedia K. · 56, 89
Hédia K. · 85
Helal S. · 42
Hengel H. · 47
Hong B. · 22, 65, 71
Horvat I. · 27
Kroll P. · 33
Kulinich T. · 17
Kuzmanić Šamija R. · 2
L
L?o S. · 41
Larin H. · 15
Laugesaar R. · 41
Lazariashvili M. · 25
Lee J. · 71
Lenicek Krleza J. · 27
Leontieva E. · 17
Lim S. · 22, 65
Loorits D. · 41
I
Iarmukhametova M. · 21
Ichraf K. · 56, 85, 89
Il`ina E. · 8, 19
Ilhem T. · 56, 85, 89
Ilves N. · 41
Ilves P. · 41
Isaykina Y. · 37
Ivanova G. · 11, 46
Ivanova M. · 11, 46
M
Mahajnah M. · 38, 47
Maletic-Savc M. · 30
Mamukadze S. · 66
Männamaa M. · 41
Manzi O. · 84
Martinac E. · 48
Marueva N. · 17
Marunica J. · 62
Matijević V. · 62, 77, 94
Megahed H. · 82
Meguid N. · 14
Mejri I. · 58
Mikhalovska-Karlova E. · 70
Milanovic S. · 18
Milos M. · 27
Minin A. · 90
Mitosek-Szewczyk K. · 75, 78, 79, 80
Monahova A. · 72
Moser A. · 36
Moskalenko M. · 63
Murina E. · 46
J
Janjua F. · 6, 64
Jelovina I. · 2, 31, 34
Jeridi C. · 57, 58, 76
Jo L. · 22
Johnston M. · 40
Juurmaa J. · 41
K
Kahre T. · 41
Kanivets I. · 8
Kaplina S. · 67
Karabeg A.3 · 31
Karabeg E. · 2, 31
Karabeg E.1 · 31
Karlov V. · 10
Kasprowicz B. · 33
Kasradze S. · 25, 66
Kharit S. · 67
Kholin A. · 8, 19
Kim J. · 22, 65, 71
Kim Y. · 65
Kirgizov K.2 · 5
Klaa H. · 55, 57, 58, 76, 83, 87, 88
Klatka M. · 80
Kodric J. · 24
Kolak Z. · 62, 77
Kolk A. · 41
Kosanovic B. · 48
Kovačić D. · 77
Kraljević M. · 94
Kraoua I. · 55, 57, 58, 76, 83, 87, 88
Kratz L. · 40
N
Nadia B. · 56, 85, 89
Naglic N. · 48
Naidu S. · 40
Namuslu M. · 53
Nesterovskii I. · 92
Neville B. · 32
Newton C. · 32
Nimani V. · 23
Õ
Õiglane-Šlik E. · 41
96
Sonmez F. · 53
Stansfield S. · 15
Stefancic V. · 48
Stričević I. · 26
Sukhonosova O. · 69
Sultan E. · 14
Sung W. · 71
Syrovtseva A. · 46
Szopa A. · 9
O
Orun E. · 53
P
Palchik A. · 81, 90
Paro-Panjan D. · 24
Pavel R. · 45
Pena-Shaff J. · 15
Perica Starčević M. · 62
Pilia S. · 35
Piliya S. · 5
Pinjatela R. · 77
Plotnikova S. · 90
Š
Šečić A. · 62
T
R
Talvik I. · 41
Talvik T. · 41
Tomasović M. · 2
Tomberg T. · 41
Turcic N. · 48
Rader N. · 15
Radez J. · 24
Radic Antolic M. · 27
Radonić M. · 26
Raymond G. · 36
Reneman L. · 16
Rener Primec Z. · 86
Rener-Primec Z. · 49
Rešić B. · 2, 31, 34
Rešić Karara J. · 34
Retkoceri R. · 23
Rouissi A. · 55, 57, 58, 76, 83, 87, 88
V
Valente E. · 87
Varan C. · 59
Vaurio R. · 40
Vlahek P. · 62
Volkova E. · 5, 35
Vreča M. · 7, 20
Vuçitërna A. · 23
S
Sadiku A. · 23
Said O. · 42
Sallam M. · 42
Sanyal A. · 40
Schöls L. · 47
Seale A. · 32
Serganova E. · 73
Serganova T. · 73, 91
Shadrova A. · 93
Shalkevich L. · 37
Sharkia R. · 38, 47
Shchederkina I. · 93
Shipilova E. · 92
Shirshov Y. · 17
Shnayder N. · 17
Shulmin A. · 17
Skorobogatova E. · 5
Skripchenko E. · 11, 46
Skripchenko N. · 11, 46, 67
Smih Hicks C. · 40
Soltirovska Salamon A. · 24
Song S. · 65
W
Wachtel L. · 43
Y
Yakovlev A. · 37
Yenokyan G. · 40
Yevtushenko I. · 28, 63
Yevtushenko O. · 28
Yevtushenko S. · 28, 63
Yurieva D. · 81
Z
Zacharova E. · 72
Zadravec Zaletel L. · 39
Zadro R. · 27
Zaki S. · 42
97
Zaletel M. · 44
Zavadenko N. · 5, 8, 13, 19, 35, 72, 92, 93
Zeineb B. · 85
Zeka N. · 23
Zelnik N. · 3, 4, 38
Zienkiewicz E. · 75, 78, 79, 80
Zykov V. · 50
98