• Study Resource
  • Explore Categories
    • Arts & Humanities
    • Business
    • Engineering & Technology
    • Foreign Language
    • History
    • Math
    • Science
    • Social Science

    Top subcategories

    • Advanced Math
    • Algebra
    • Basic Math
    • Calculus
    • Geometry
    • Linear Algebra
    • Pre-Algebra
    • Pre-Calculus
    • Statistics And Probability
    • Trigonometry
    • other →

    Top subcategories

    • Astronomy
    • Astrophysics
    • Biology
    • Chemistry
    • Earth Science
    • Environmental Science
    • Health Science
    • Physics
    • other →

    Top subcategories

    • Anthropology
    • Law
    • Political Science
    • Psychology
    • Sociology
    • other →

    Top subcategories

    • Accounting
    • Economics
    • Finance
    • Management
    • other →

    Top subcategories

    • Aerospace Engineering
    • Bioengineering
    • Chemical Engineering
    • Civil Engineering
    • Computer Science
    • Electrical Engineering
    • Industrial Engineering
    • Mechanical Engineering
    • Web Design
    • other →

    Top subcategories

    • Architecture
    • Communications
    • English
    • Gender Studies
    • Music
    • Performing Arts
    • Philosophy
    • Religious Studies
    • Writing
    • other →

    Top subcategories

    • Ancient History
    • European History
    • US History
    • World History
    • other →

    Top subcategories

    • Croatian
    • Czech
    • Finnish
    • Greek
    • Hindi
    • Japanese
    • Korean
    • Persian
    • Swedish
    • Turkish
    • other →
 
Profile Documents Logout
Upload
Radiologic-Clinical Correlation One-and-a
Radiologic-Clinical Correlation One-and-a

... Wall and Wray (5) have reviewed the reported cases of one-and-a-half syndrome and 20 cases of their own. They found that the most common causes of the syndrome were brain stem infarction (occurring in a variety of settings: hypertension, diabetes mellitus, atherosclerosis, cardiac disease, connectiv ...
What is Tourette`s Syndrome??? Tourette syndrome
What is Tourette`s Syndrome??? Tourette syndrome

... We also do not know yet whether all children are equally at risk of getting PANDAS or whether only children with certain genetic make-up are at risk. In any case strep infections are very common, and if PANDAS is sometimes caused by strep it is likely a very rare consequence. Other than this possibl ...
Developmental and Cognitive Disorders
Developmental and Cognitive Disorders

... Apparent normal pre and perinatal development Normal head circumference at birth Deceleration of head growth between 5 and 48 months Loss of hand skills between 5 and 30 months with development of stereotyped hand movement, loss of social engagement, poorly coordinated gait or trunk movements, sever ...
Childhood Apraxia of Speech Resource Guide
Childhood Apraxia of Speech Resource Guide

... terms such as developmental apraxia, dyspraxia, pediatric verbal apraxia or just apraxia all refer to the same problem. Some children with Down syndrome have characteristics of CAS, but many do not. Down Syndrome News, Vol. 30, No. 3, 2007, has an article by Libby Kumin, Ph.D., CCCSLP, on Childhood ...
Autism Spectrum Disorders
Autism Spectrum Disorders

... • Fragile X syndrome, Phenylketonuria (PKU), and Tuberous Sclerosis also may be present with Autism. • Most, if not all, individuals diagnosed with an ASD have significant differences in motor functioning. • Catatonia , is seen in a higher frequency in people diagnosed with ASD than in the general p ...
File
File

... Short stature, prominent forehead, protruding jaw, flat/depressed areas between eyes, legs are bowed Use the following website http://www.ygyh.org/cf/whatisit.htm to answer the questions below. 4. What are some of the major symptoms of cystic fibrosis? Persistent diarrhea, smelly, greasy stool, freq ...
Aspergers
Aspergers

... Parents need to recognize that children and teens with AS see the world very differently; their odd behavior is actually an attempt at selfsoothing when they feel overwhelmed. Interfering with this behavior may result in even greater distress and anxiety. Explore different kinds of educational optio ...
GNRS4IntellectualDevtDisabilities
GNRS4IntellectualDevtDisabilities

...  IQ of ~70 or below based on formal test results and  Impairment in adaptive functioning before age 18 ...
Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a
Novel WDR45 Mutation and Pathognomonic BPAN Imaging in a

... X-linked dominant form of neurodegeneration with brain iron accumulation caused by mutations in the WDR45 gene. BPAN commonly presents as global developmental delay in childhood with rapid onset of parkinsonism and dementia in early adulthood and associated pathognomonic changes seen on brain MRI. I ...
Common Chromosomal Disorders
Common Chromosomal Disorders

... occupational training to help them become more independent and a functioning part of society. It is very important to counsel parents who have one child with Down syndrome about the risk of having a second affected child. The risk of recurrence is 1% in otherwise low risk moms and if the parent is no ...
sjogren`s syndrome1
sjogren`s syndrome1

... produce tears and saliva. Characterized by an unusual accumulation (infiltration) of lymphocytes of the exocrine glands. * Primary Sjogren’s syndrome: does not develop as a result of another condition. * Secondary Sjogren’s Syndrome: a condition that coexists with other autoimmune disease such as rh ...
PPT File
PPT File

... • A chromosome abnormality in which a cell has too many or too few copies of a particular chromosome (trisomy, monosomy) ...
Asperger disorder
Asperger disorder

... loss of skills (Ozonoff, 2005) ...
What is Asperger`s Syndrome?
What is Asperger`s Syndrome?

... and affects people in very varying degrees of severity. AS is characterised by severe and sustained impairment in social interaction. It affects individuals’ ability to understand another person's feelings, emotions and thoughts, and affects their social intuition, social obligations and social cons ...
Changes in Chromosomes - Toronto District Christian High School
Changes in Chromosomes - Toronto District Christian High School

... can vary from one person to another, most individuals have mild to moderate mental impairment and a large, thick tongue that can create speech defects. In addition, the skeleton may not develop properly, resulting in a short, stocky body type with a thick neck. ...
autism - Talking Life
autism - Talking Life

... However, we are increasingly aware of people with Rett syndrome living well into their 50s and beyond. ...
introduction to child psychiatry
introduction to child psychiatry

... Presently no curative treatment available; symptomatic interventions focus. Mainstay: Early intervention; speech and language services; structured behavioral and educational programs; OT, PT. Medications: To control seizures, hyperactivity, severe aggression, SIB, repetitive behaviors or mood disord ...
Abstract
Abstract

... In addition to the classic retinal, inner ear, and neurological findings, muscle aches and skin lesions can also be present in Susac syndrome. Patient complaints of myalgias as well as rashes, such as livedo reticularis, have been seen in prior cases. Direct immunofluroescence of rashes show sparse ...
Downloadable pp - Autism Task Force
Downloadable pp - Autism Task Force

... Brain development disorder affecting communication, behavior, and social awareness Includes: autism, Asperger’s syndrome, Rett’s syndrome, childhood disintegrative disorder, and PDD-NOS (pervasive developmental delay—no other specified) Cause is unknown but there is a 90% link through heredity. Envi ...
Fanconi bickel syndrome
Fanconi bickel syndrome

... The Fanconi–Bickel syndrome is inherited in an autosomal recessive mode. Hepatorenal glycogen accumulation, due to mutation of GLUT 2. Also known as GSD type XI. Incidence : Less than one in one million children ...
GENE
GENE

... congenital infections like Rubella, Chicken Pox, Toxoplasmosis or metabolic disorders or Down Syndrome. But cases with familial inheritance are very rare. Autosomal dominant congenital cataract seems to be the most common form of congenital cataract. Mutations at multiple sites have been incriminate ...
autism spectrum conditions
autism spectrum conditions

... disorder: Not otherwise specified) may not need services or treatment – Can explain “autism boom” ...
Joubert syndrome labeled as hypotonic cerebral palsy
Joubert syndrome labeled as hypotonic cerebral palsy

... therapy, speech therapy, and orthotics services. The treatment plan focused on improving the child’s gross and fine motor skills, language, cognitive, and pre writing and social skills. On further review, 4 months after rehabilitation, she showed fair improvement in all domains of her development bu ...
Asperger's Syndrome
Asperger's Syndrome

... as an autism spectrum disorder. Asperger’s syndrome, also known as AS, is a type of autism spectrum disorder. Children with AS have trouble reading social cues and recognizing other people's feelings. They may have strange movements or mannerisms. This makes it difficult for them to develop friendsh ...
GENE - Indian Academy of Pediatrics
GENE - Indian Academy of Pediatrics

... be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). It involves malformations of the eyes, ears and spine. Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while ...
< 1 ... 3 4 5 6 7 8 >

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.
  • studyres.com © 2026
  • DMCA
  • Privacy
  • Terms
  • Report