| Demographic Data |
| Relation to Proband |
brother |
| Age at Sampling |
6 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 |
23 |
| Communication - Nonverbal |
13 |
| Repetitive Behaviors and Stereotyped Patterns |
9 |
| Abnormality of Development Evident at or Before 36 months |
4 |
| Autism Diagnostic Observation Schedules |
| Communication |
7 |
| Qualitative Impairment in Reciprocal Social Interaction |
14 |
| Communication and Social |
21 |
| Play |
3 |
| Stereotyped Behaviors and Restricted Interests |
1 |
| Background History |
| Birth Weight |
10 LBS 7 OZ |
| Apagar Score (at 1min;at 5min) |
No Data |
| Maternal Age at Delivery |
29 YEARS |
| Perinatal |
UNCOMPLICATED PREGNANCY, BORN FULL TERM VIA VAGINAL DELIVERY. AT DELIVERY ASPIRATED SOME AMNIOTIC FLUID AND HAD TRANSIENT BREATHING DIFFICULTY FOR A FEW HOURS AFTER BIRTH. |
| Developmental |
AT 18 MOTHS LANGUAGE REGRESSION. |
| Health |
HOSPITALIZED FOR STREPT CERVICAL LYMPHITIS. HISTORY OF CHRONIC LOOSE STOOLS. NO HISTORY OF HEAD TRAUMA WITH UNCONCIOUSNESS OR SEIZURE ACTIVITY; ON NO MEDICATIONS |
| Family/Social |
AS REPORTED BY PARENTAL INTERVIEW, A MATERNAL UNCLE IS REPORTED TO BE SLIGHTLY OBSESSIVE, A PATERNAL UNCLE IS REPORTED TO HAVE SCHOOL ANXIETY AS A CHILD. THE PATERNAL GRANDMOTHER HAS MULTIPLE SCLEROSIS. BROTHER HAS AUTISTIC DISORDER. |
| General/Physical Examination |
| Height (Percentile) |
128 CM (>95%) |
| Weight (Percentile) |
29 KG (>95%) |
| Head Circumference (Percentile) |
56.5 CM (>95%) |
| Dysmorphic Features |
NONE |
| Neurocutaneous Stigmata |
SINGLE SMALLE CAFE-AU-LAIT PIGMENTED AREA ON RIGHT SIDE OF ABDOMEN - 1 CM DIAMETER. |
| Wood's Lamp Exam |
positive negative |
| Neurological Examination |
| Muscle tone |
NON FOCAL EXAM; 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: 1995 |
| EEG |
normal abnormal unknown
Notes: MILD DIFFUSE ENCEPHALOPATHY (1995) |
| CT |
No Data |
| Audiologic exam |
normal abnormal unknown |
| MRI |
MODERATE/SEVERE PERIVENTRICULAR LEUKOMALACIA (1995) |
| Peabody Picture Vocabulary Test (Form IIIB) |
UNABLE TO ACHIEVE A BASAL SCORE - TESTING NOT COMPLETED |
| Gessell |
N/A |
| Kaufman Brief Intelligence Test |
N/A |
| WISC III |
N/A |
| RPM |
N/A |
| Metabolic Studies |
N/A |
| Vineland Adaptive Schedules |
COMPOSITE - 5.7 INTERVENTION SPECIALISTS' REPORT (ADMINISTERED AT AGE 3) |
| Binet |
N/A |
| Stanford-Binet Intelligence Scale |
N/A |
| Slosson Intelligence Scale |
N/A |
| Raven Progressive Matrices |
UNABLE T ACHIEVE A BASAL SCORE - TESTING NOT COMPLETED. |
| Bayley Scales of Development |
MENTAL SCALE <50 (ADMINISTERED AT AGE 3) |
| Developmental Profile II Ability Equivalence |
4.4 (ADMINISTERED AT AGE 3) |
| Remarks |
Autistic disorder |