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NU10026 DNA from LCL

Description:

AUTISTIC DISORDER

Affected:

Yes

Sex:

Male

Age:

4 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • External Links

Overview

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Repository Autism
Class Disorders of Uncertain Biochemical Etiology
Quantity 10ug
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race Caucasian
Ethnicity HUNGARIAN
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Autistic disorder

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 4 YR
Sex Male
Age of Onset(If not a control) No Data
Age at Diagnosis(If not a control) No Data
Hispanic or Latino/Not Hispanic or Latino not yet reported
Racial Category Caucasian
Country No Data
Diagnosed By No Data
 
Data Elements
Clinical Element Type: Autism
  (Baseline)
DSM-IV Criteria
Qualitative Impairment in Social Interaction as Manifested by at Least Two of the Following Eye-to-eye gaze
Facial expression
Body postures
Body gestures
Failure to develop peer relationships appropriate to developmental levels
Lack of spontaneous seeking to share enjoyment or achievements with other people
Lack of social or emotional reciprocity
Qualitative Impairment in Communication Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communcation such as gesture or mime)
Delay in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
Stereotyped and repetitive use of language or idiosyncratic language
Lack of varied, spontaneous make-believe play or social initiative play appropriate to developmental level
Restricted, Repetitive, and Stereotypes, Patterns of Behavior, Interests and Activities as Manifested by at Least One of the Following Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
Apparently inflexible adherence to specific, nonfunctional routines or rituals
Stereotyped and repetitive motor mannerisms
Persistent preoocupation with parts or objects
Delays or Abnormal Functioning in at Least One of the Following Areas with Onset Prior to Age 3 Years Social interaction
Language as used in social communication
Symbolic or imaginative play
The disturbance is not better accounted for by Rett Syndrome or Childhood Disintegrative Disorder  No Data
Autism Diagnostic Interview
Qualitative Impairment in Reciprocal Social Interaction  18
Communication - Nonverbal  18
Repetitive Behaviors and Stereotyped Patterns  8
Abnormality of Development Evident at or Before 36 months  4
Autism Diagnostic Observation Schedules
Communication  7
Qualitative Impairment in Reciprocal Social Interaction  10
Communication and Social  17
Play  2
Stereotyped Behaviors and Restricted Interests  1
Background History
Birth Weight  6 LBS 11 OZ
Apagar Score (at 1min;at 5min)  No Data
Maternal Age at Delivery  25 YEARS
Perinatal  BORN FULL TERM
Developmental  SAT AT 6 MONTHS, WALKED AT 12 MONTHS, SPOKE SINGLE WORDS AT 14 MONTHS, COMBINED WORDS AT 48 MONTHS, HISTORY OF LANGUAGE REGRESSION.
Health  NO SERIOUS ILLNESSES
Family/Social  AS REPORTED BY PARENTAL INTERVIEW, A MATERNAL COUSIN SUFFERED FROM A SEIZURE DISORDER. A MATERNAL TWIN SISTER IS AFFECTED WITH ADULT ONSET DIABETES MELLITUS, AS IS THE MATERNAL GRANDMOTHER AND A SISTER OF THE MATERNAL GRANDFATHER. THE DECEASED BROTHER AND SISTER OF THE MATERNAL GRANDMOTHER ARE REPORTED TO HAVE JUVENILE ONSET DIABETES MELLITUS. THE PATERNAL GRANDFATHER IS REPORTED TO HAVE HAD A HISTORY OF DELAYED LANGUAGE (BEGAN SPEAKING AT AGE 5). BROTHER HAS AUTISTIC DISORDER.
General/Physical Examination
Height (Percentile)  106 CM (50%)
Weight (Percentile)  17 KG (50%)
Head Circumference (Percentile)  51 CM ( 50%)
Dysmorphic Features  SLIGHTLY PROTUBERANT EARS, SLIGHTLY HIGH ARCHED PALATE.
Neurocutaneous Stigmata  SINGLE BLACK NEVUS ON ABDOMEN - 0.25 CM DIAMETER
Wood's Lamp Exam positive  negative  
Neurological Examination
Muscle tone  NON FOCAL, HYPOTONICTY IN EXTREMETIES
Muscle strength normal   abnormal 
Deep tendon reflexes symmetric and physiologic  
Plantar response normal  downgoing  
Gait  NO ATAXIA
Involuntary movements present  absent  
Tests/Evaluations
Fragile X positive  negative   unknown 
Notes: DATE COMPLETED: 2000
EEG normal  abnormal  unknown  
CT normal  abnormal  unknown  
Audiologic exam normal  abnormal  unknown  
MRI  N/A
Peabody Picture Vocabulary Test (Form IIIB)  95
Gessell  N/A
Kaufman Brief Intelligence Test  N/A
WISC III  No Data
RPM  No Data
Metabolic Studies  No Data
Vineland Adaptive Schedules  COMMUNICATIVE STANDARD SCORE - 53
Binet  No Data
Stanford-Binet Intelligence Scale  No Data
Slosson Intelligence Scale  No Data
Raven Progressive Matrices  No Data
Bayley Scales of Development  No Data
Developmental Profile II Ability Equivalence  No Data
Remarks Autistic disorder

External Links

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NCBI Gene Gene ID:8311
NCBI GTR 209850 AUTISM
OMIM 209850 AUTISM
Omim Description AUTISM, INFANTILE
  AUTISTIC DISORDER
Pricing
Commercial:
$100.00USD
Academic &
Non-profit:
$100.00USD
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How to Order
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