| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 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 |
22 |
| Communication - Nonverbal |
14 |
| Repetitive Behaviors and Stereotyped Patterns |
6 |
| Abnormality of Development Evident at or Before 36 months |
4 |
| Autism Diagnostic Observation Schedules |
| Communication |
9 |
| Qualitative Impairment in Reciprocal Social Interaction |
14 |
| Communication and Social |
23 |
| Play |
2 |
| Stereotyped Behaviors and Restricted Interests |
1 |
| Background History |
| Birth Weight |
9 LBS |
| Apagar Score (at 1min;at 5min) |
No Data |
| Maternal Age at Delivery |
27 YEARS |
| Perinatal |
PREGNANCY COMPLICATED BY SPOTTING WHICH WAS SPONTANEOUSLY RESOLVED. BORN 41 WEEKS GESTATION. DELIVERY WAS VAGINAL WITH MECONIUM STAINING. |
| Developmental |
WALKED AT 12 MONTHS, 18 MONTHS SOCIAL REGRESSION NOTED. HE HAD DIMINISHED EYE CONTACT AND BEGAN DISPLAYING ATYPICAL BEHAVIOR (TAPPING AND SHAKING STICKS). |
| Health |
NO SERIOUS HEALTH ILLNESSES OR HOSPITALIZATIONS. THERE IS HISTORY OF OTITIS MEDIA AND PNEUMONIA WITH NO SEQUELA. NO HISTORY OF HEAD TRAUMA, LOSS OF CONCIOUSNESS OR SEIZURE ACTIVITY. THE CHILD IS 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) |
135 CM (75-90%) |
| Weight (Percentile) |
30 KG (50-75%) |
| Head Circumference (Percentile) |
55.2 CM (>95%) |
| Dysmorphic Features |
NONE |
| Neurocutaneous Stigmata |
NONE |
| Wood's Lamp Exam |
positive negative |
| Neurological Examination |
| Muscle tone |
NEURO EXAM - NON FOCAL, NORMAL MUSCLE TONE |
| 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
Notes: MODERATE DIFFUSE SLOWING INDICATIVE OF MODERATE ENCEPHALOPATHY |
| CT |
normal abnormal unknown |
| Audiologic exam |
normal abnormal unknown |
| MRI |
PARANASAL SINUS PROMINENCE; OTHERWISE UNREMARKABLE |
| Peabody Picture Vocabulary Test (Form IIIB) |
UNABLE TO ACHIEVE A BASAL SCORE - TESTING NOT COMPLETED (AGE 8) |
| Gessell |
N/A |
| Kaufman Brief Intelligence Test |
N/A |
| WISC III |
N/A |
| RPM |
N/A |
| Metabolic Studies |
NORMAL (1995) |
| Vineland Adaptive Schedules |
5.9 |
| Binet |
ABSTRACT VISUAL INTELLIGENCE - 75; VISUAL SUBSET ONLY - 74 (ADMINISTERED AT AGE 3) |
| Stanford-Binet Intelligence Scale |
VERBAL REASONING - 62; ABSTRACT REASONING - 76; QUANITITATIVE REASONING 65; SHORT TERM MEMORY - 64; COMPOSITE 64 (ADMINISTERED AT AGE 6) |
| Slosson Intelligence Scale |
OVERALL COGNITIVE ABILITY - 5.0 (ADMINISTERED AT AGE 3) |
| Raven Progressive Matrices |
UNABLE TO ACHIEVE A BASAL SCORE - TESTING NOT COMPLETED |
| Bayley Scales of Development |
N/A |
| Developmental Profile II Ability Equivalence |
N/A |
| Remarks |
Autistic disorder |