| Demographic Data |
| Relation to Proband |
brother |
| Age at Sampling |
9 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 |
19 |
| Communication - Nonverbal |
13 |
| Repetitive Behaviors and Stereotyped Patterns |
4 |
| Abnormality of Development Evident at or Before 36 months |
2 |
| Autism Diagnostic Observation Schedules |
| Communication |
3 |
| Qualitative Impairment in Reciprocal Social Interaction |
8 |
| Communication and Social |
11 |
| Play |
1 |
| Stereotyped Behaviors and Restricted Interests |
2 |
| Background History |
| Birth Weight |
8 LBS 10 OZ |
| Apagar Score (at 1min;at 5min) |
3; 8 |
| Maternal Age at Delivery |
29 YEARS |
| Perinatal |
BORDERLINE GESTATIONAL DIABETES. BORN FULL TERM; DURING DELIVERY THERE WAS SIGNIFICANT BRADYCARDIA AND FORCEPS DELIVERY WAS PERFORMED. CHILD REQUIRED WHIFFS OF OXYGEN. |
| Developmental |
NO HISTORY OF LANGUAGE REGRESSION. |
| Health |
NO SERIOUS ILLNESS OR HOSPITALIZATIONS. NO DRUG ALLERGIES. |
| Family/Social |
AS REPORTED BY PARENTAL INTERVIEW, THERE IS NO FAMILY HISTORY OF PSYCHIATRIC DISORDERS, TOURETTE SYNDROME, OR SEIZURE DISORDER. PARENTS REPORT NO HISTORY OF CONSANGUINITY. BROTHER HAS AUTISTIC DISORDER. |
| General/Physical Examination |
| Height (Percentile) |
127 CM (10%) |
| Weight (Percentile) |
23 KG (10%) |
| Head Circumference (Percentile) |
53.5 CM (50%) |
| Dysmorphic Features |
NONE |
| Neurocutaneous Stigmata |
NONE |
| Wood's Lamp Exam |
positive negative |
| Neurological Examination |
| Muscle tone |
NONFOCAL EXAM, TONE NORMAL |
| Muscle strength |
normal abnormal |
| Deep tendon reflexes |
symmetric and physiologic |
| Plantar response |
No Data |
| Gait |
NO ATAXIA, NO DYSMETRIA |
| Involuntary movements |
present absent |
| Tests/Evaluations |
| Fragile X |
positive negative unknown
Notes: DATE COMPLETED: 1996 |
| EEG |
normal abnormal unknown |
| CT |
normal abnormal unknown |
| Audiologic exam |
normal abnormal unknown |
| MRI |
N/A |
| Peabody Picture Vocabulary Test (Form IIIB) |
STANDARDIZED SCORE WAS 100 |
| Gessell |
N/A |
| Kaufman Brief Intelligence Test |
N/A |
| WISC III |
N/A |
| RPM |
N/A |
| Metabolic Studies |
N/A |
| Vineland Adaptive Schedules |
N/A |
| Binet |
N/A |
| Stanford-Binet Intelligence Scale |
N/A |
| Slosson Intelligence Scale |
N/A |
| Raven Progressive Matrices |
RAW SCORE AT 5%; RESULT IMPACTED BY ATTENTION ISSUES. |
| Bayley Scales of Development |
N/A |
| Developmental Profile II Ability Equivalence |
N/A |
| Remarks |
Pervasive development disorder; low muscle tone |