| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 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 |
12 |
| Communication - Nonverbal |
15 |
| Repetitive Behaviors and Stereotyped Patterns |
4 |
| Abnormality of Development Evident at or Before 36 months |
5 |
| Autism Diagnostic Observation Schedules |
| Communication |
5 |
| Qualitative Impairment in Reciprocal Social Interaction |
8 |
| Communication and Social |
13 |
| Play |
1 |
| Stereotyped Behaviors and Restricted Interests |
0 |
| Background History |
| Birth Weight |
7 LBS 12 OZ |
| Apagar Score (at 1min;at 5min) |
No Data |
| Maternal Age at Delivery |
32 YEARS |
| Perinatal |
BORN FULL TERM WITH AN UNCOMPLICATED PREGNANCY. LABOR INDUCED WITH PITOCIN. VAGINAL DELIVERY. |
| Developmental |
WALKED AT 12 MONTHS. SPOKE SINGLE WORDS BY 1 YEAR. BEGAN SPEAKING AT 2 1/2 YEARS OF AGE. HAD LANGUAGE REGRESSION. |
| Health |
BAER I YEAR OF AGE |
| Family/Social |
AS REPORTED BY PARENTAL INTERVIEW, BOTH PATERNAL GRANDPARENTS ARE HYPERTENSIVE. THE MATERNAL GRANDFATHER IS HYPERTENSIVE, ONE MATERNAL AUNT IS AFFECTED WITH BIPOLAR AFFECTIVE DISORDER, AND A SECOND MATERNAL AUNT HAD A CEREBRAL ANEURYSM BEFORE 1 YEAR OF AGE. SISTER HAS LANGUAGE DELAY AND ATYPICAL BEHAVIORAL FEATURES. |
| General/Physical Examination |
| Height (Percentile) |
126 CM (25-50%) |
| Weight (Percentile) |
27 KG (75%) |
| Head Circumference (Percentile) |
54 CM (90%) |
| Dysmorphic Features |
NONE |
| Neurocutaneous Stigmata |
NONE |
| Wood's Lamp Exam |
positive negative |
| Neurological Examination |
| Muscle tone |
LOW 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 |
CHIARI I MALFORMATION - SPEC AND STUDY SHOWED DECREASED BLOOD FLOW IN THE LEFT HEMISPHERE |
| Peabody Picture Vocabulary Test (Form IIIB) |
STANDARDIZED SCORE - 61; AGE EQUIVALENT 4 YEARS 9 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 |
SCORED AT 75-90% |
| Bayley Scales of Development |
No Data |
| Developmental Profile II Ability Equivalence |
No Data |
| Remarks |
Pervasive developmental disorder |