| Demographic Data |
| Relation to Proband |
brother |
| Age at Sampling |
2 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 |
6 |
| Communication - Nonverbal |
2 |
| Repetitive Behaviors and Stereotyped Patterns |
1 |
| Abnormality of Development Evident at or Before 36 months |
3 |
| Autism Diagnostic Observation Schedules |
| Communication |
3 |
| Qualitative Impairment in Reciprocal Social Interaction |
3 |
| Communication and Social |
6 |
| Play |
3 |
| Stereotyped Behaviors and Restricted Interests |
0 |
| Background History |
| Birth Weight |
8 LBS 9 OZ |
| Apagar Score (at 1min;at 5min) |
No Data |
| Maternal Age at Delivery |
26 YEARS |
| Perinatal |
GRAVIDA 1; PARA 0. NO DIFFICULTIES WITH PREGNANCY. BORN FULL TERM VIA CAESARIAN SECTION DUE TO CHILD DIAGNOSED VIA ULTRASOUND WITH A RIGHT MULTICYSTIC KIDNEY. CHILD WAS HOSPITALIZED FOR TEN DAYS SECONDARY TO EATING DIFFICULTY. |
| Developmental |
SAT ALONE 9 MONTHS, WALKED INDEPENDENTLY AT 19 MONTHS. LANGUAGE MILESTONES: SAID "MAMA/DADA" AT 18 MONTHS, DOES NOT YET SPEAK IN 2 OR 3 WORD SENTENCES. NO HISTORY OF LANGUAGE REGRESSION. |
| Health |
DIAGNOSED IN UTERO WITH RIGHT MULTICYSTIC KIDNEY. AS AN INFANT UNDERWENT RIGHT NEPHRECTOMY. HAD TWO SURGICAL PROCEDURES FOR SMALL BOWEL OBSTRUCTION. HAD LACRIMAL DUCT STENOSIS REPAIED AT AGE 18 MOTNHS. HAS MILD PULMONIC STENOSIS. |
| Family/Social |
AS REPORTED BY PARENTAL INTERVIEW, MOTHER HAS A HISTORY OF MULIPLE SCLEROSIS AND THE PATERNAL GRANDFATHER HAS LEUKEMIA. BROTHER HAS AUTISTIC DISORDER. |
| General/Physical Examination |
| Height (Percentile) |
94 CM (50-75%) |
| Weight (Percentile) |
15 KG (90%) |
| Head Circumference (Percentile) |
55 CM (>95%) |
| Dysmorphic Features |
MACROCEPHALY WITH SOME HEAD ASYMMETRY, EARS NORMALLY SHAPED WITH SLIGHT POSTERIOR ROTATION, HIGH ARCHED PALATE |
| Neurocutaneous Stigmata |
NONE |
| Wood's Lamp Exam |
positive negative |
| Neurological Examination |
| Muscle tone |
LOW |
| 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 |
NORMAL |
| Peabody Picture Vocabulary Test (Form IIIB) |
STANDARDIZED SCORE - 88 |
| 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 |
No Data |
| Bayley Scales of Development |
No Data |
| Developmental Profile II Ability Equivalence |
No Data |
| Remarks |
Multiple congenital anomalies; macrocephaly; hypotonia; mild pulmonic stenosis; multicystic right kidney removed; negative MRI; 46,XY; negative for fragile X |