AU10064

Coriell Institute for Medical Research

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AU10064 LCL from B-Lymphocyte

Description:

AUTISTIC DISORDER

Affected:

No Data

Sex:

Male

Age:

4 YR (At Sampling)

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

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

Communication - Nonverbal

Repetitive Behaviors and Stereotyped Patterns

Abnormality of Development Evident at or Before 36 months

Autism Diagnostic Observation Schedules

Communication

Qualitative Impairment in Reciprocal Social Interaction

Communication and Social

Play

Stereotyped Behaviors and Restricted Interests

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

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

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:

$195.00USD

Academic &
Non-profit:

$195.00USD

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How to Order

Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form