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AU10064
LCL
from
B-Lymphocyte
Description:
AUTISTIC DISORDER
Affected:
No Data
Sex:
Male
Age:
4
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
Autism
Class
Disorders of Uncertain Biochemical Etiology
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
Other
Family Member
2
Relation to Proband
brother
Confirmation
Clinical summary/Case history
Species
Homo
sapiens
Common Name
Human
Remarks
Language delay; auditory processing difficulty
Phenotypic Data
Demographic Data
Relation to Proband
brother
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
Other
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
11
Communication - Nonverbal
11
Repetitive Behaviors and Stereotyped Patterns
2
Abnormality of Development Evident at or Before 36 months
5
Autism Diagnostic Observation Schedules
Communication
6
Qualitative Impairment in Reciprocal Social Interaction
2
Communication and Social
8
Play
1
Stereotyped Behaviors and Restricted Interests
0
Background History
Birth Weight
8 LBS 15 OZ
Apagar Score (at 1min;at 5min)
No Data
Maternal Age at Delivery
37 YEARS
Perinatal
GRAVIDA 2; PARA 1. NORMAL SPONTANEOUS VAGINAL DELIVERY WITH USE OF VACUUM EXTRACTION.
Developmental
MOTOR MILESTONES WITHIN IN NORMAL LIMITS. LANGUAGE ACQUISITION WAS DELAYED. HAD NO INDENTIFIABLE WORDS UNTIL 2 YEARS OF AGE. HAD NO HISTORY OF LANGUAGE REGRESSION.
Health
NO SERIOUS ILLLNESS NOR HOSPITALIZATION. HAD ONE MINOR SURGICAL PROCEDURE (REMOVAL OF AN EYE CYST) JANUARY OF 1997.
Family/Social
A BROTHER HAS PDD-NOS.
General/Physical Examination
Height (Percentile)
105 CM (25%)
Weight (Percentile)
17 KG (50%)
Head Circumference (Percentile)
51.8 CM (50%)
Dysmorphic Features
NONE
Neurocutaneous Stigmata
NONE
Wood's Lamp Exam
positive
negative
Neurological Examination
Muscle tone
NORMAL
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
EEG
normal
abnormal
unknown
CT
normal
abnormal
unknown
Audiologic exam
normal
abnormal
unknown
MRI
N/A
Peabody Picture Vocabulary Test (Form IIIB)
N/A
Gessell
N/A
Kaufman Brief Intelligence Test
N/A
WISC III
No Data
RPM
No Data
Metabolic Studies
No Data
Vineland Adaptive Schedules
No Data
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
Language delay; auditory processing difficulty
External Links
NCBI Gene
Gene ID:8311
NCBI GTR
209850 AUTISM
OMIM
209850 AUTISM
Omim Description
AUTISM, INFANTILE
AUTISTIC DISORDER
Culture Protocols
Split Ratio
1:5
Temperature
37 C
Percent CO2
5%
Medium
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not Inactivated
Substrate
None specified
Subcultivation Method
dilution - add fresh medium
Supplement
-
Pricing
Commercial:
$195.00
USD
Academic &
Non-profit:
$195.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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