Demographic Data |
Relation to Proband |
twin brother |
Age at Sampling |
10 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 |
yes no |
Autism Diagnostic Interview |
Qualitative Impairment in Reciprocal Social Interaction |
13 |
Communication - Nonverbal |
9 |
Repetitive Behaviors and Stereotyped Patterns |
2 |
Abnormality of Development Evident at or Before 36 months |
3 |
Autism Diagnostic Observation Schedules |
Communication |
5 |
Qualitative Impairment in Reciprocal Social Interaction |
8 |
Communication and Social |
13 |
Play |
2 |
Stereotyped Behaviors and Restricted Interests |
1 |
Background History |
Birth Weight |
No Data |
Apagar Score (at 1min;at 5min) |
No Data |
Maternal Age at Delivery |
26 YEARS |
Perinatal |
BORN PRODUCT OF TRIPLET GESTATON. DELIVERY COMPLICATED BY PREECLAMPSIA. C-SECTION WAS SCHEDULED WHEN UMBILICAL FLOW WAS FOUND TO BE DECREASING. |
Developmental |
DELAYED MILESTONES, NO LANGUAGE REGRESSION. |
Health |
NO SERIOUS ILLNESSES NOR HOSPITALIZATIONS. HAD BEEN ON DEXEDRINE AND RITALIN AT AGE 5 WITH NO EFFECT. |
Family/Social |
AS REPORTED BY PARENTAL INTERVIEW, MATERNAL AUNT HAD BREAST CANCER, DECEASED MATERNAL UNCLE HAD A BRAIN TUMOR, MATERNAL GRANDMOTHER HAD OVARIAN CANCER AND THE MATERNAL GRANDFATHER HAD COLON CANCER, AS DID THE PATERNAL GRANDFATHER. A SISTER OF THE MATERNAL GRANDFATHER HAD A NERVOUS BREAKDOWN. THIS INDIVIDUAL IS ONE OF THE MONOZYGOTIC TWINS IN TRIPLET BIRTH. HIS TWIN BROTHER HAS AUTISTIC DISORDER AND HIS DIZYGOTIC TRIPLET SISTER IS NORMAL. |
General/Physical Examination |
Height (Percentile) |
152 CM (>95%) |
Weight (Percentile) |
42 KG (90%) |
Head Circumference (Percentile) |
55.3 CM (75%) |
Dysmorphic Features |
ELONGATED FACIES |
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 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) |
STANDARDIZED SCORE - 62; AGE EQUIVALENT - 5 YEARS 8 MONTHS |
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 |
Autistic disorder |