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Autism Spectrum Disorder
Autism Spectrum Disorder

... Pervasive Development Disorder Not Otherwise Specified (PDD-NOS): diagnosis for individuals who do not meet specified criteria of either Autistic Disorder or Asperger Syndrome but share many of the known ASD characteristics ...
Presentation
Presentation

... and restricted, repetitive behaviors • Focus on level of functioning and need for support • “The descriptive severity categories should not be used to determine eligibility for and provision of services; these can only be developed at an individual level and through discussion of personal priorities ...
Communication Facts - Communication Access Now
Communication Facts - Communication Access Now

... Communication is an interactive process with the goal of jointly establishing meaning between two or more people (Clark, 2005). We communicate in many different ways including through the use of speech, gestures, body language, writing and pointing. Communication involves at least two people, both o ...
Autism Reversed When Cellular Damage Caused By A Genetic
Autism Reversed When Cellular Damage Caused By A Genetic

... leads to social deficits. More surprisingly, the scientists found they were able to restore normal behavior by simply reversing or cleaning up the cellular damage. Dr. Zhen Yan, a professor at SUNY Buffalo School of Medicine and Biomedical Sciences and lead researcher, began the new study with mice ...
Additional file 1
Additional file 1

... 64. Griesel D, Wessa M, Flor H: Psychometric properties of the German version of the Posttraumatic Diagnostic Scale (PDS). Psychological Assessment 2006, 18:262–268 ...
Psikologi Anak Pertemuan 11 Developmental
Psikologi Anak Pertemuan 11 Developmental

... • common comorbidities: ADHD, mood disorders, pervasive developmental disorders, stereotypic movement disorder. ...
Chapter 15: Chromosomal Abnormalities
Chapter 15: Chromosomal Abnormalities

... 3. deletion  causes include losses from translocations, crossovers within an inversion, and unequal crossing over  can also be caused by breaking without rejoining, usually leading to large deletions  small deletions are less likely to be fatal; large deletions are usually fatal – but always, the ...
Guillain-Barre Syndrome
Guillain-Barre Syndrome

... Req’d Features for dx: 1. Progressive weakness of > than 1 limb 2. Areflexia Supportive Features: ~progression of Sx over days to 4 weeks ~relative symmetry ~CN involv esp b/l facial n weakness ~autonomic dysfunction ~EMG features ~elev CSF protein w/ cell count ,10 mm3 ...
Disorders
Disorders

... Although females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most females with triple X syndrome have normal sexual development and are able to conceive children. ...
Pervasive Developmental Disorders
Pervasive Developmental Disorders

... • Often associated with Mental Retardation • Often also have other medical conditions (chromosomal abnormalities, seizures, abnormal CNS structure, primitive reflexes, delayed hand dominance, etc.) ...
The Child with Cognitive, Sensory and Communication Impairment
The Child with Cognitive, Sensory and Communication Impairment

... Treatment of ADHD •Early identification, referral, assessment, evaluation, and intervention strategies that include service provision are key to positive long term outcomes. •Family education, behavior modification, educational interventions, individual counseling, pharmacologically: stimulant drugs ...
Final Project Outline Aaron Loewen 33334137 Name: Aaron
Final Project Outline Aaron Loewen 33334137 Name: Aaron

... The introduction of Downs Syndrome into this experiment stems from the fact the the Eurl gene in humans is found in the region where Downs Syndrome is likely to be caused by (Li et al. 2016). Microcephaly has been found in Downs Syndrome patients, and therefore would allow us to connect a decreased ...
Understanding Pervasive Developmental Disorders
Understanding Pervasive Developmental Disorders

... Rett syndrome is a genetic disorder that primarily affects girls. Boys with the disorder die shortly before or after birth. Before symptoms emerge, the child seems to develop and grow normally. Eventually, this progressive neurological disorder causes the following symptoms: • Loss of muscle tone (h ...
Down Syndrome - Continuum of Care
Down Syndrome - Continuum of Care

... psychosis, schizophrenia, OCD, anxiety disorders, and dementia of the Alzheimer type may be found among individuals with Down syndrome. It is important to rule out treatable causes of decline in mental functioning (thyroid problems, B vitamin deficiencies, vision and hearing problems, depression, sl ...
Asperger`s Syndrome - University of Nebraska Medical Center
Asperger`s Syndrome - University of Nebraska Medical Center

... Hans Asperger and Leo Kanner first described similar forms of autism in the 1940’s Asperger’s description differed from Kanner’s in that speech was less delayed, motor deficits were more common, the onset was later, and it appeared to be most prevalent in boys Kanner’s work has defined recent views ...
Kartagener`s syndrome: Case Report
Kartagener`s syndrome: Case Report

... * Corresponding author : Email: [email protected] ...
Autism and Autism Spectrum Disorders
Autism and Autism Spectrum Disorders

... Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others. Ste ...
Characterization of MeCP2e1 Transgenic Mice
Characterization of MeCP2e1 Transgenic Mice

... described previously (19). Primary antibodies were incubated on slides for 18 hours at 37°C, and then washed five times in PBS/0.5% Tween-20 for five minutes with shaking. Secondary antibodies, including Alexa 488goat anti-chicken antibody and Alexa 594goat anti-mouse antibody (Molecular Probes), we ...
CDKL5 UK study
CDKL5 UK study

... variant   forms   of   RTT   have   been   described   including   the   early-­‐onset   seizure   variant   first  described  by  Hanefeld  in  1985  (Hanefeld  1985).  Subsequently,  Kalscheuer  et  al.   (2003)  found  that  mutations  in ...
Genetic Disorder Research Project Introduction: There are
Genetic Disorder Research Project Introduction: There are

... profound effects on a person’s quality of life. Genetic disorders are passed from parents to offspring in the genetic code, and in some cases, a person may be a carrier for a disease and pass it to their children without knowing. Because genetic diseases are usually caused by errors or mutations in ...
Autism - MyPortfolio
Autism - MyPortfolio

... symptoms associated with classic autism. • The symptoms can include difficulty socializing with others, repetitive behaviors, and heightened sensitivities to certain stimuli. • They may appear unemotional, have trouble holding eye contact, or trouble transitioning quickly from one activity to the ne ...
Synthesis Project - My Illinois State
Synthesis Project - My Illinois State

... • Accurate diagnosis possible at 18-24 months • Parents first voice concerns around 18 months, but diagnosis is typically not until 3 years or older ...
Toward an Authentic Diagnostic Impression Using Clinical
Toward an Authentic Diagnostic Impression Using Clinical

... and Rhonda Stone, “The Light Barrier”). One hundred twenty-two patients were diagnosed with the syndrome. Their ages ranged from 6 to 82. Fifteen families had 2 or more individuals that qualified for the diagnosis. Two patients had a severe depth perception disorder. The investigation of Irlen Syndr ...
Developmental Disorders
Developmental Disorders

... seizure, neurons may fire as many as 500 times a second, much faster than normal. In some people, this happens only occasionally; for others, it may happen up to hundreds of times a day. ...
PPT
PPT

... Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 (which is why the disorder is also called "trisomy 21"). Having an extra copy of this chromosome means that each gene may be producing more protein product than normal. Cells seem to tolerate this better than having n ...
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Rett syndrome

Rett syndrome (RTT), originally termed cerebroatrophic hyperammonemia, is a rare genetic postnatal neurological disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted. People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of affected individuals do not walk. Scoliosis, growth failure, and constipation are very common and can be problematic.The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism. Rett syndrome occurs in approximately 1:10,000 live female births in all geographies, and across all races and ethnicities.Rett syndrome was formerly classified as a pervasive developmental disorder by the Diagnostic and Statistical Manual of Mental Disorders (DSM), together with the autism spectrum disorders and childhood disintegrative disorder. Some argued against this classification because RTT is similar to non-autistic spectrum disorders such as fragile X syndrome, tuberous sclerosis, or Down syndrome where one can see autistic features. It was removed from the DSM-5 in 2013 because it has a known molecular etiology.It was first described by Austrian pediatrician Andreas Rett in 1966. Huda Zoghbi demonstrated in 1999 that Rett syndrome is caused by mutations in the gene MECP2.
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