22q11.2

Description:

Unrelated individuals with autism or ASD recruited by SARC and/or AGRE

Diagnosis:

270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism

CNV Size: 3000000

Deletion: 0

Duplication: 2

Total CNV: 2

Description:

Unrelated ASD cases from multiplex families ( 2 children with ASD); many of these families have been previously used in genetics studies (2 linkage studies, 1 rare single gene mutation study).

Diagnosis:

Diagnosis of autism or ASD based on meeting DSM-IV criteria following assessment by trained clinicians using ADI-R & ADOS-G

CNV Size: 3000000

Deletion: 0

Duplication: 2

Total CNV: 2

Description:

9-year-old female with ASD

Diagnosis:

ASD

CNV Size: N/A

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region

Diagnosis:

Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R

CNV Size: N/A

Deletion: 1

Duplication: 0

Total CNV: 1

Description:

4-year-old male diagnosed with ASD

Diagnosis:

ASD

CNV Size: N/A

Deletion: 0

Duplication: 1

Total CNV: 1

Description:

Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska

Diagnosis:

Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.

CNV Size: NA

Deletion: 0

Duplication: 2

Total CNV: 2

Description:

Caucasian male patient born to healthy unrelated patients with 22q11.2 deletion

Diagnosis:

ASD and psychotic disorders (anxiety disorder, separation anxiety disorder, ADHD-like features). Diagnosis of ASD based on ADOS module 4 and ADI-R evaluation. Other diagnostic tools used in assessing case include WISC-III, VABS-II, CBCL/4-18, CPRS-R:L, and K-SADA-PL.

CNV Size: 1500000

Deletion: 1

Duplication: 0

Total CNV: 1

Clinical Profile:

Non-verbal language 10, Repetitive behavior 6, Onset 5, Raven 131, epicanthal folds, prominent ears, retrognathia, ligamentous laxity

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: Multiplex

Clinical Profile:

Non-verbal language 13, Repetitive behavior 6, Onset 4, Raven 83, epicanthal folds, midface hypoplasia, abnormal pigmentation

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: Multiplex

Clinical Profile:

Family history: monozygotic twin sister has paternally-inherited 22q11.2 duplication & diagnosis of ASD; father showed decreased social motivation and limited range of interests/flexibility as assessed by Broader Phenotype Autism Symptom Scale (BPASS).

Cognitive Profile:

Low IQ (full-scale IQ 49)

Primary Disorder Inheritence: Possibly paternal

Family Profile: Multiplex

Clinical Profile:

Family history: sister, who has diagnosis of autism/ASD, lacks 22q11.2 duplication

Cognitive Profile:

-

Primary Disorder Inheritence: -

Family Profile: Multiplex

Clinical Profile:

Diagnosis: autism. Syndromic autism features: cleft lip and palate

Cognitive Profile:

-

Primary Disorder Inheritence: -

Family Profile: Unknown

Clinical Profile:

Impaired social skills, stereotypical behaviors, delayed motor and speech, facial dysmorphism

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: Simplex

Clinical Profile:

Developmental delay, no verbal communication skills, repetitive behaviors, severe lack of social interactions

Cognitive Profile:

NA

Primary Disorder Inheritence: -

Family Profile: Simplex

Clinical Profile:

Assessment results using ADOS-module 4: communication score of 4 (> cut-off autism); social interaction score of 5 (>ASD); total (communication and social interaction) score of 9 (>ASD); imagination score of 1; stereotyped behavior and restricted interests score of 2. Assessment results using ADI-R: reciprocal social interaction score of 14 (>ASD); communication score of 13 (>ASD); restricted, repetitive, and stereotyped patterns of behaviors score of 10 (>ASD); abnormality of development evident at or before 36 months score of 3 (>ASD). K-SADS-PL assessment: anxiety disorders; Separation Anxiety Disorder (SAD). CBCL/4-18 assessment: withdrawn score of 88-C (>98th %ile); somatic complaints score of 91-C (>98th %ile); anxious/depressed score of 81-C (>98th %ile); social problems score of 87-C (>98th %ile); thought problems score of 82-C (>98th %ile); attention problems score of 89C (>98th %ile); aggressive behavior score of 68-B (97th %ile). CPRS-R:L assessment: oppositional score of 78; cognitive/inattentive score of 69; hyperactivity score of 76; anxious/shy score of 97; perfectionism score of 62; social problems score of 100; psychosomatic score of 99; Conners' ADHD Index score of 79; I:CGI Restlessness-Impulsive score of 71; J-CGI-Emotional Lability score of 83; K-CGI Total score of 76; L:DSM-IV Inattentive score of 76; M-DSM-IV Hyperactive-Impulsive score of 76; DSM-IV total score of 79. Developmental milestones: slightly delayed psychomotor development (sitting at 11 months, walking at 18 months); first words at 12 months, complete phrases at 24 months; pointing at objects present at 30 months (other communicative gestures were poor); developed literal comprehension of language with difficulties understanding metaphorical sentences. Motor and musculoskeletal evaluation: mildly reduced muscle tone, reported fatigue, normal muscle trophism; patient able to walk and run; global clumsiness; poor fine motor skills; hyperlaxity of ligaments, flat feet. Behavioral/psychiatric evaluation: extensive neuropsychiatric evaluation (see above); poor interaction with peers, difficulties in modulating social interaction with peers (excessive intrusiveness or avoidance); development of selective interest in limited range of objects; excessive anxiety concerning separation from parents; occassional aggressive behavior toward family members; ADHD-like features of hyperactivity, impulsivity, and inattention. EEG: normal. Brain imaging: brain MRI within normal limits. Ohter features: immunological profile showed mild IgG-IgM reduction, mild lynphopenia, and hypo-gamma-globulinemia. Dysmorphic features: mild facial dysmorphisms (long face, ocular hypertelorism, small ears, prominent nose with bulbous tip). Family history: born to healthy unrelated parents; healthy younger sister.

Cognitive Profile:

WISC-III assessment results: full scale IQ of 77, verbal IQ of 90, performance IQ of 69; verbal comprehension score of 93; perceptual organization score of 72; freedom from distractibility score of 78; processing speed score of 85. VABS-II assessment results: adaptive behavior composite score of 61 (communication score of 59, daily living skills score of 63, socialization score of 64, motor skills score of 75, maladaptive behavior scale index was clinically significant)

Primary Disorder Inheritence: -

Family Profile: Simplex

Clinical Profile:

Simple (non-syndromic autism). Behavior problems. No dysmorphisms.

Cognitive Profile:

Developmental delay

Primary Disorder Inheritence: -

Family Profile: Unknown

Clinical Profile:

Complex (syndromic) autism. Hypotonia. Microcephaly, macrostomia, esotropia.

Cognitive Profile:

Developmental delay

Primary Disorder Inheritence: -

Family Profile: Unknown

Clinical Profile:

Case diagnosed with ASD based on DSM criteria. CNV detected by karyotype and FISH analysis (probes RP11-316L10 and RP11-1107K6, location 22q11.2, locusTBX1).

Cognitive Profile:

-

Primary Disorder Inheritence: -

Family Profile: -