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3/19/2014 Overview of Down Syndrome, Cerebral Palsy, and Epilepsy Donna Riedle RN, IPMG oTo understand the diagnosis and unique needs of Individuals with Down Syndrome, Epilepsy, and Cerebral Palsy. oTo learn how to support Individuals with Down Syndrome, Epilepsy, and Cerebral Palsy. oTo understand medical risks related to each diagnosis. 3/19/2014 Objectives 3/19/2014 Unique Support Needs DOWN SYNDROME o Down syndrome is a genetic variation of the 21st chromosome, which usually causes delay in physical, intellectual and language development. o The exact cause of the chromosomal rearrangement and the primary prevention of Down syndrome are currently unknown. o Down syndrome is one of the leading clinical causes of cognitive delay in the world – it is not related to race, nationality, religion or socio-economic status. 3/19/2014 Down Syndrome Defined oOf all children born in this country annually, approximately 6,000 will have Down syndrome. oThere are about 350,000 to 400,000 people living in the United States with Down syndrome. oAccording to a 2010 study reported by the CDC, the incidence of Down syndrome in the United States is estimated to be 1 in every 691 live births. 3/19/2014 Incident oThe likelihood of giving birth to a child with Down syndrome increases with maternal age; however, 80% of babies with Down syndrome are born to women under 35 years old, as women in that age group have the most babies. 3/19/2014 Risk Factors oDown syndrome is usually caused by an error in cell division called nondisjunction. It is not known why this occurs. However, it is known that the error occurs at conception and is not related to anything the mother did during pregnancy. 3/19/2014 Cause o “The Triple Screen” These tests are usually done between 15 and 20 weeks of gestation. o Sonograms (ultrasounds) - are usually performed in conjunction with other screenings. 3/19/2014 Diagnosis – Prenatal Screening o Amniocentesis is performed between 12 and 20 weeks gestation. o Chorionic Villus Sampling (CVS) is conducted between 8 and 12 weeks. o Percutaneous Umbilical Blood Sampling (PUBS) is performed after 20 weeks. 3/19/2014 Pre-natal Diagnostic Tests oTrisomy 21 (94%) o Trisomy 21 (nondisjunction) is caused by a faulty cell division that results in the baby having three #21 chromosomes instead of two. Prior to or at conception, a pair of #21 chromosomes in either the egg or the sperm fails to separate properly. The extra chromosome is replicated in every cell of the body. Ninety five percent of all people with Down syndrome have Trisomy 21. 3/19/2014 Genetic Screening oMosaicism (2.4%) o Mosaicism occurs when nondisjunction of chromosome #21 takes place in one of the initial cell divisions after fertilization. When this happens, there is a mixture of two types of cells, some containing 46 chromosomes and some with 47. The cells with 47 chromosomes contain an extra 21st chromosome. Because of the “mosaic” pattern of the cells, the term mosaicism is used. This type of Down syndrome occurs in only one to two percent of all cases of Down syndrome. 3/19/2014 Genetics – Con’t oTranslocation ( 3.3%) o Translocation accounts for only 3% to 4% of all cases. In translocation a part of chromosome #21 breaks off during cell division and attaches to another chromosome. The presence of an extra piece of the 21st chromosome causes the characteristics of Down syndrome. Unlike Trisomy 21, which is the result of random error in the early cell division, translocation may indicate that one of the parents is carrying chromosomal material that is arranged in an unusual manner. 3/19/2014 Genetics – Con’t oLow muscle tone oFlat facial features, with a small nose oUpward slant to the eyes 3/19/2014 Syndrome Presentation oSpeckling of iris – Brushfield’s spots oSmall skin folds on the inner corner of the eyes oSmall , abnormally shaped ears 3/19/2014 Presentation oSingle deep crease across the center of the palm oHyperflexibility oEnlarged tonguetends to stick out 3/19/2014 Presentation o As many as 50% have heart anomalies o 10-12% have gastrointestinal issues o 60 % Hearing problems o 70% Vision problems o 20 % Celiac disease o 45% Sleep apnea o 50% Thyroid problems o Increased risk of leukemia o More susceptible-respiratory illness, pneumonia, aspiration, bronchiolitis syndromes, croup, and chronic lung disease 3/19/2014 Co-Morbid Conditions oDevelopmental Therapy oSpeech Therapy oPhysical Therapy oHippotherapy oMusic Therapy 3/19/2014 Treatment and Support o Increased hormonal problems than the general population o Cataracts o Conductive Hearing Loss o Osteoarthritis o 25% of adults over the age of 35 show signs of Alzheimer’s disease 3/19/2014 Aging o Life expectancy for people with Down syndrome has increased dramatically in recent decades, from 25 in 1983 to 60 today o Attend school, work, participate in decisions that affect them , and contribute to society in many ways. 3/19/2014 Quality of Life oEmployment oSocial Isolation oHealth maintenance 3/19/2014 Challenges 3/19/2014 Summary 3/19/2014 Resource - Down Syndrome Indiana http://www.dsindiana.org/ 3/19/2014 Resource – National Down Syndrome Congress http://ndsccenter.org/ 3/19/2014 Unique Support Needs EPILEPSY 3/19/2014 oDisorder of the brain’s electrical system oLoss or change of consciousness oJerking and spasms oDifficulty speaking o2 or more seizures 3/19/2014 Definition oA seizure describes a brain dysfunction that occurs when the normal electrical impulses in the brain become disrupted. o approximately 70 percent of seizures occur without an identifiable cause oPatients with epilepsy have seizures, but patients with a seizure do not necessarily have epilepsy oEpilepsy is when an individual has two or more seizures 3/19/2014 Epilepsy vs Seizure oWide range of symptoms oStaring oFalling oFumbling with clothes 3/19/2014 Symptoms oStaring spells oMore common in children 3/19/2014 Absence Seizures oFormally known as Grand Mal Seizures oStiffening of arms and legs oJerking movement oMay last up to 3 minutes 3/19/2014 Generalized Clonic Tonic Seizures oAffects one side of brain oJerking oHallucinations oUnaware 3/19/2014 Partial Seizure oGenetic factors oSevere head injury oBrain infection oStroke Oxygen deprivation oIn 2/3 of people with epilepsy, a cause is never found 3/19/2014 Causes oMedical exam and history oEEG Electroencephalogram oBrain Scan 3/19/2014 Diagnosis oSafety oSuicide Risk oSUDEP – Sudden Unexpected Death in Epilepsy 3/19/2014 Health Risk 3/19/2014 oADHD oDepression oMood Disorder oMost common- Major Chronic Depression 3/19/2014 Related Conditions oFactors Influencing the Decision to Treat oAbnormal EEG oPrevious Seizure oOther neurological impairment oElderly 3/19/2014 Treatment and Support oMedications oAntiepileptic or anticonvulsant oMust maintain a therapeutic level 3/19/2014 Treatment and Support oKetogenic Diet oHigh in fat, low in carbohydrates oVery strict diet 3/19/2014 Treatment oVagus Nerve Stimulation –VNS o“Pacemaker for the Brain” oSurgical implant 3/19/2014 Treatment oSurgery used for people with partial seizures oTreat underlying condition 3/19/2014 Treatment oTime the seizure oClear the area of anything hard or sharp oLoosen anything at the neck oTurn the person onto his or her side oPut something soft beneath the head oDo NOT place anything in the mouth oCall 911 3/19/2014 First Aid for Seizures oStatus Epilepticus oHospital treatment oMedication oOxygen 3/19/2014 Treatment for Status Seizures oMay be able to sense a seizure oMay keep individual safe 3/19/2014 Seizure “Predicting” Dogs Goals: 1. Increase the number of people who can fully control their seizures. 2. Reduce effects of treatment 3/19/2014 Epilepsy Research oChallenges oRelationships oSchool oEmployment oDriver license oLeisure activities 3/19/2014 Living with Epilepsy 3/19/2014 Resource - www.epilespyfoundtion.org 3/19/2014 Unique Support Needs CEREBRAL PALSY oCP is a non-progressive disorder of motor control and function that is caused by damage to a child’s brain early in the course of development. 3/19/2014 Definition oCollection of motor disorders oNot just one disorder oOccurs due to brain injury early in life. oNOT inherited 3/19/2014 Cerebral Palsy oImpaired motor control oAbnormal muscle tone, posture, movements, balance and coordination oDecreased function oVariable severity oIs permanent 3/19/2014 Cerebral Palsy oDecreased control of body movement or posture oStatic brain injury oOccurrence of the brain injury either before birth, around the time of birth, or in the 1st few years of life 3/19/2014 3 major findings oUmbrella term oEncompasses many different motor disorders. oMany different causes. oWide variety of associated deficits. 3/19/2014 Cerebral Palsy oBut…Appearance of deficits may change as the child grows. 3/19/2014 Non-progressive Brain Injury oMost common motor disability of childhood o1.5 to 4 cases per 1000 live births worldwide o3.3 per 1000 cases among 8 year olds oCP, on average, occurs 1.2 times more frequently among boys than girls o8000 new cases per year in U.S. 3/19/2014 How Common in CP? o85 to 90 % of cases are present at birth, or due to congenital causes 3/19/2014 What causes CP? oNeurologic damage due to fetal infection, poor oxygenation, prematurity, stroke oCirculation deficits due to heart defects, blood clotting disorders oMalformation of the brain 3/19/2014 Congenital Causes birth) oPremature infant with complications oStroke oMeningitis/sepsis oSevere , untreated jaundice oHypoxic- ischemic encephalopathy with acidosis 3/19/2014 Perinatal Causes (around the time of oInfections/meningitis (viral or bacterial) oShaken baby syndrome oTraumatic brain injury oStroke 3/19/2014 Postnatal Causes oPrematurity oMultiple pregnancy oPlacental abruption oIntrauterine infection oBirth trauma causing anoxia (no oxygen) 3/19/2014 Risk Factors oMaternal epilepsy oMaternal hyper / hypo thyroid oChorioamnionitis oSevere toxemia of pregnancy oPeri = around oVentricular = brain ventricle oLeuko = white oMalacia = scarring 3/19/2014 Periventricular Leukomalacia Classification is based on muscle tone and body movement patterns o Spastic – most common o Dyskinetic – dystonic , athetoid o Ataxic – least common o Hypotonic – initially most worrisome o Mixed – spastic / dystonic; spastic / athetoid; spasticity with hypotonia 3/19/2014 Classification of CP oVelocity dependent hypertonia oIncreased muscle tone in response to quick passive muscle stretches. 3/19/2014 Spastic CP oInvoluntary sustained or intermittent muscle contractions with twisting and repetitive, abnormal postures, or both. 3/19/2014 Dyskinetic oJerky, unsteady, poorly coordinated movements 3/19/2014 Ataxic oFloppy; low muscle tone, difficulty holding up trunk and head against gravity 3/19/2014 Hypotonic oDiplegic/Diparetic oAffects both legs much more than arms 3/19/2014 Classification by Affected Body Parts oQuadriplegic/ Quadriparetic oAffects entire body/ arms and legs oSpasticity and muscle control may be asymmetrical in arms and legs. 3/19/2014 Classification by Affected Body Parts oFloppy at birth oExaggerated infant reflexes oDifficulty sucking oMotor skill delay oEarly hand preference oAsymmetric arm or leg movement oOther delayed milestones 3/19/2014 Signs and Symptoms - Infant oMotor skill delay oAbnormal mobility patterns – persistent army crawling, bunny hopping, bottom scooting oSignificant differences between motor and cognitive milestone oToe-walking ; abnormal walking patterns 3/19/2014 Signs and Symptoms - Toddler oThere is no one specific test oComprehensive history is reviewed: pregnancy, delivery, developmental milestones oFamily history ; review risk factors 3/19/2014 Diagnosis oPhysical exam oNeurological exam oEye exam oSpeech / language, occupational and physical therapy evaluations as needed oBrain imaging oSpinal cord imaging oNot always routine o CPK level in weak, low toned children. oUrine studies for amino and organic acids, carnitine oBlood levels for ammonia , lactate, pyruvate, acyl-carnitine and long chain fatty acids oChromosomal analysis and genetic studies 3/19/2014 Laboratory Work What else could it be? oMuscular dystrophy oBrain tumor oMetabolic disorder oFamilial spastic paraparesis oNeurodegenerative disease 3/19/2014 Differential Diagnosis oVisual oSensory oHearing oLearning oBehavioral oPsychological oOral motor oNutrition oRespiratory oBowel/ bladder oEpilepsy 3/19/2014 Associated Disorders oBone health: risk for decreased bone mineral density oBone growth: risk for joint deformities , length discrepancies of limbs oFoot: bunions oFoot/ankle: deformity oKnee: flexion contractures, knock knee oHip: possible dislocation, flexion contractures oSpine: kyphosis, lordosis, scoliosis 3/19/2014 Associated Disorder – Musculoskeletal oHip and knee flexion contractures with rotation of the thigh bones at the hip sockets; pelvic bone un-leveling 3/19/2014 Windswept Posture oShoulders- tight at sides of chest oElbows- elbow contractures and pronation deformities oWrist- flexion contractures with deviation towards the ulna or radial bone oHands- thumb in palm, finger deformities 3/19/2014 Associated Disorder – Musculoskeletal (cont) oScissored oCrouched 3/19/2014 Walking Patterns oToe Walking oStiff Knee 3/19/2014 Walking Patterns oIn toeing / out toeing 3/19/2014 Walking Patterns oPediatrician oNeurologist oPhysiatrist oOrthopedist oDevelopmental pediatrician oGastoenterologist oPulmonologist oPhysical therapist oOccupational therapist oSpeech and language pathologist oPsychologist/ neuropsychologist oOrthotist oNutritonist 3/19/2014 Treatment - Multidisciplinary oMobility skills/ gross motor oFine motor skills oCommunication oSocialization oOral motor skills oADL’s/ self care skills oBehavioral regulation oSpasticity management oMuscle tone management oMedical care oDental care 3/19/2014 Common Habilitation Goal Areas oMaintain or improve joint range-of-motion oManage spasticity and muscle tonedecrease / increase as needed oMuscle strengthening oImproved physical endurance oMaximize fine motor skills oImprove balance and coordination oControl drooling and improve swallowing oDevelop age-appropriate social and recreational skills 3/19/2014 Common Goals oOccupational oPhysical oSpeech and oral-motor / swallowing oDevelopmental oBehavioral oRecreational oMusic 3/19/2014 Traditional Therapies oStretching oStrengthening oElectrical stimulation oConstraint-induced movement therapy oGait (walking) training - partial body weight supported on treadmill; pool therapy oRobotics oHippotherapy 3/19/2014 Specific Techniques o Robotic therapy offers an opportunity to treat secondary complications o High repetition o Consistency of movement o Increased intensity o Robotics may actually create new neural pathways 3/19/2014 Robotics oPhysical therapy in which a patient sits or lies on the back of a horse for the therapeutic effect of the horse's movement 3/19/2014 Hippotherapy oUpper extremities oLower extremities oSpine oNeuro-prosthesis 3/19/2014 Bracing and Orthotics oFrequently prescribed to increase independence in mobility oUsed to facilitate safety and efficiency of caregiving. 3/19/2014 Adaptive Equipment oStretching and Range of Motion oOral medications oChemical intervention oIntrathecal baclofen oSelective dorsal rhizotomy 3/19/2014 Spasticity Management Oral Medications: o Baclofen o Diazepam o Clonidine o Tizanidine o Dantrolene Injected Medications: o Botox ( BoNT-A) o Myobloc ( BoNT-B) o Alcohol nerve and motor point blocks 3/19/2014 Common Medications oMuscle tendon lengthening and transfers oSpinal fusion oBony reconstruction of hip joints and ankles oFemoral and tibial bone surgeries 3/19/2014 Orthopedic Surgery oNeurosurgical technique for cutting sensory nerve rootlets in the lumbar and sacral spinal cord levels oDecrease muscle tone oMay unmask underlying muscle weakness oPermanent and not adjustable postoperatively 3/19/2014 Selective Dorsal Rhozotomy oSurgical implant of pump and catheter (tubing) that delivers baclofen to the spinal fluid oDosage is adjustable oPump can be removed if ever desired 3/19/2014 Intrathecal Baclofen Pump o Periods of rapid growth may bring increased contractures and periods of decreased coordination of motor skills o Increased caloric requirements with growth may present the need for caloric supplementation, by mouth or G-tube o Longer and heavier limbs are more difficult to move and control-there may be the appearance of decreasing motor function o However- sudden increases in spasticity deserve medical evaluation for constipation, UTI, pain, etc. 3/19/2014 Lifetime Prognosis: Challenges with Growth o Perception of QOL is very subjective o QOL in children with CP has been studied mostly through parental surveys o Recent studies of direct child reports indicate that greater than 50% of children with CP perceive their psycho-social QOL as similar to non-disabled peers o Children seem to incorporate early onset physical disabilities into the “sense of self” 3/19/2014 Quality of Life - QOL oApproximately 500,000 people in the U.S. live with CP oHealth of adults with CP in generally “good” oFunctional status of adults with CP is not static and there is usually only modest decrease in function as there is for the general population oExercise can improve function 3/19/2014 Cerebral Palsy and Aging oMortality : related to severity of impairments; those with most severe deficits rarely survive to 60 years oThose with mild / moderate impairments have survival rates close to the general population 3/19/2014 Cerebral Palsy and Aging oMusculoskeletal: osteoarthritis, osteoporosis; hip, knee, and foot pain oSpine: degenerative conditions; progression of scoliosis oPeripheral nerve compression: carpal tunnel and ulnar nerve compression 3/19/2014 Health and Aging with CP o Respiratory issues: scoliosis and aspiration o Swallowing deficits o Intestinal obstruction o Urinary tract infections o Sexual dysfunction 3/19/2014 Health and Aging with CP oAdult women often receive limited health screens (PAP smears, etc.) oWomen require appropriate screens for use of oral and other contraceptives oWomen generally able to conceive and carry term pregnancies oAdult males have normal function and fertility oAdults require appropriate health screens and sex education/ pregnancy prevention 3/19/2014 Sexual Function and CP oCerebral palsy is defined as a collection of motor disorders due to brain injury early in life of a baby or young child; it is a static condition but impacts development across the life span. 3/19/2014 Summary oThe causes of CP are broad, but most causes are present at birth oThere are common subtypes base on the type of movement impairments and areas of body affected oManagement techniques include medical, surgical, therapeutic, orthotic, and adaptive equipment 3/19/2014 Summary oAssociated medical issues can be extensive and highly variable oAging issues commonly include pain and fatigue; but, exercise has been demonstrated to help maintain flexibility, strength , and function. 3/19/2014 Summary owww.cerebralpalsy.org oUnited Cerebral Palsy – www.ucp.org 3/19/2014 Resources 3/19/2014 Questions