| Demographic Data |
| Relation to Proband |
proband |
| 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 |
14 |
| Communication - Nonverbal |
9 |
| Repetitive Behaviors and Stereotyped Patterns |
7 |
| Abnormality of Development Evident at or Before 36 months |
5 |
| Autism Diagnostic Observation Schedules |
| Communication |
6 |
| Qualitative Impairment in Reciprocal Social Interaction |
8 |
| Communication and Social |
14 |
| Play |
2 |
| Stereotyped Behaviors and Restricted Interests |
0 |
| Background History |
| Birth Weight |
5 LBS 14 OZ |
| Apagar Score (at 1min;at 5min) |
7; 8 |
| Maternal Age at Delivery |
35 YEARS |
| Perinatal |
THE PREGNANCY WAS NOTABLE FOR OLIGOHYDRAMINOS IN THE SECOND TRIMESTER. MOTHER HAD UTERINE FIBROIDS WHICH WERE TREATED CONSERVATIVELY. ROUTINE AMNIOCENTESIS DONE DUE TO MATERNAL AGE OF 35 YEARS WAS NORMAL. DELIVERY WAS AT 36 WEEKS GESTATION VIA PRIMARY CESAREAN DUE TO BREECH PRESENTATION AND OLIGOHYDRAMNIOS. NEONATAL PERIOD WAS COMPLICATED BY RESPIRATORY DISTRESS SYNDROME REQUING VENTILATORY SUPPORT FOR FIVE DAYS, HYPERBILIRUBINEMIA WITH MAXIMUM LEVEL OF 14 MGS PERCENT NOT REQUIRING PHOTOTHERAPY. INFANT REMAINED FOR 14 DAYS IN NICU DUE TO FAILURE TO THRIVE. |
| Developmental |
NO HISTORY OF LANGUAGE REGRESSION. DELAYED GROSS MOTOR SKILLS (WALKED AT 18 1/2 MONTHS). |
| Health |
FIVE BRIEF GENERALIZED SEIZURES ACCOMPANIED WITH INCREASED TEMPERATURE BETWEEN AGES OF 10 1/2 AND 14 MONTHS. EEG AND CT SCAN WERE NEGATIVE. HISTORY OF ORAL DYSPHAGIA-VIDEO FLUOROSCOPY SWALLOW STUDY. MOTHER REPORTS HISTORY OF IRRITABLE BOWEL SYNDROME. NO DRUG ALLERGIES. ON NO MEDICATIONS. |
| Family/Social |
AS REPORTED BY PARENTAL INTERVIEW, FATHER HAS IRRITABLE BOWEL SYNDROME AND HE CURRENTLY TAKING PROZAC. PATERNAL UNCLE IS REPORTED TO BE SUICIDAL. PARENTS REPORT NO HISTORY OF CONSANGUINITY. SISTER HAS MILD PDD-NOS. |
| General/Physical Examination |
| Height (Percentile) |
108 CM (5%) |
| Weight (Percentile) |
19 KG (10%) |
| Head Circumference (Percentile) |
50.5 CM (25%) |
| Dysmorphic Features |
PROMINENT EARS, PROTUBERANT PINNAE, SLIGHTLY PROMINENT NASAL ROOF |
| Neurocutaneous Stigmata |
NONE |
| Wood's Lamp Exam |
positive negative |
| Neurological Examination |
| Muscle tone |
HYPOTONIC |
| 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: 1996 |
| EEG |
normal abnormal unknown
Notes: DATE COMPLETED: 1993 |
| CT |
normal abnormal unknown
Notes: DATE COMPLETED: 1993 |
| Audiologic exam |
normal abnormal unknown |
| MRI |
N/A |
| Peabody Picture Vocabulary Test (Form IIIB) |
BASAL NOT ACHIEVED; RAW SCORE - 30; AGE EQUIVALENT - 2 YEARS 5 MONTHS; STANDARDIZED SCORE 55; RESULT IMPACTED BY NONCOMPLIANCE AND HYPERACTIVITY |
| Gessell |
No Data |
| Kaufman Brief Intelligence Test |
No Data |
| 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 |
Neurologically impaired; history of febrile seizure at age 10-14 months; CT scan and EEG were negative |