Axis I psychiatric diagnoses in adolescents and young adults with 22q11 deletion syndrome.

BACKGROUND: 22q11.2 deletion syndrome (22q11DS) associates with schizophrenia spectrum disorders (SSDs), autism spectrum disorders (ASDs), and other psychiatric disorders, but co-occurrence of diagnoses are not well described. METHODS: We evaluated the co-occurrence of SSDs, ASDs and other axis I psychiatric diagnoses in 31 adolescents and adults with 22q11DS, assessing ASDs using either stringent Collaborative Program for Excellence in Autism (ASD-CPEA) criteria, or less stringent DSM-IV criteria alone (ASD-DSM-IV). RESULTS: Ten (32%) individuals met criteria for an SSD, five (16%) for ASD-CPEA, and five others (16%) for ASD-DSM-IV. Of those with ASD-CPEA, one (20%) met SSD criteria. Of those with ASD-DSM-IV, four (80%) met SSD criteria. Depressive disorders (8 individuals; 26%) and anxiety disorders (7; 23%) sometimes co-occurred with SSDs and ASDs. SSDs, ASDs, and anxiety occurred predominantly among males and depression predominantly among females. CONCLUSIONS: Individuals with 22q11DS can manifest SSDs in the presence or absence of ASDs and other axis I diagnoses. The results suggest that standard clinical care should include childhood screening for ASDs, and later periodic screening for all axis I diagnoses.

Prodromal symptoms in adolescents with 22q11.2 deletion syndrome and schizotypal personality disorder.

Adolescents with 22q11.2 Deletion Syndrome (22q11.2DS) and Schizotypal Personality Disorder (SPD) are at increased risk for the development of psychosis based, respectively, on genetic or behavioral factors. Thus both groups would be expected to manifest heightened rates of the prodromal signs that typically precede psychosis. Although there are now standardized procedures for assessing prodromal symptoms, there has been little research on the manifestation of these symptoms in 22q11.2DS patients, and no studies of differences in prodromal symptom patterns between genetically and behaviorally defined at-risk groups. In this study, demographically matched groups of 23 SPD, 23 22q11.2DS, and 23 control participants were administered the Structured Interview for Prodromal Syndromes (SIPS). Both risk groups showed elevated positive, negative, disorganized, and general prodromal symptoms, as well as elevations on 10 of the same individual symptom items, relative to the control group. Approximately 60% of individuals in the 22q11.2DS group and 70% of individuals in the SPD group met symptom criteria for a prodromal psychosis syndrome. The 22q11.2DS group scored significantly higher than the SPD group on the "decreased ideational richness" item and showed a trend toward greater motor abnormalities. The results suggest that these two high-risk groups are similar in prodromal symptom presentation, possibly as a result of overlapping causal mechanisms, and that standardized measures of prodromal syndromes like the SIPS can be used to identify 22q11.2DS patients at greatest risk for conversion to psychosis.

Patterns of adaptive behavior in very young children with autism.

The Vineland Adaptive Behavior Scales were used to investigate patterns of adaptive behavior in children with autism who were under 36 months of age. Subjects were 30 children with autism and 30 children with developmental delay matched on CA and MA. Relative to controls, the autistic group demonstrated weaker socialization and communication skills and greater discrepancies between adaptive behavior and MA. Different patterns of relations between adaptive behavior domains and cognitive and language skills were obtained for the two groups. Preliminary support for the utility of adaptive behavior profiles in identifying subgroups of children with autism is provided. Results are discussed in terms of their implications for early diagnosis of autism.

Nonverbal communication in two- and three-year-old children with autism.

The forms, functions, and complexity of nonverbal communication used by very young children with autism were investigated. Fourteen children with autism were matched to 14 children with developmental delays and/or language impairments on the basis of CA, MA, and expressive vocabulary. Subjects participated in a structured communication assessment consisting of 16 situations designed to elicit requesting or commenting behavior. Children with autism requested more often and commented less often than controls. Autistic children were less likely to point, show objects, or use eye gaze to communicate, but were more likely to directly manipulate the examiner's hand. The autistic group also used less complex combinations of behaviors to communicate. Implications for early identification and intervention are discussed.

Motor imitation in young children with autism: what's the object?

Two studies investigated the nature of motor imitation in young children with autism. Study 1 compared different types of motor imitation in 18 autistic children, 18 children with developmental delay, and 18 normally developing children. Results revealed weaker imitation skills for the autistic group, though all groups demonstrated a similar pattern of performance across different imitation domains. Imitation of body movements was more difficult than imitation of actions with objects, and imitation of nonmeaningful actions was more difficult than imitation of meaningful actions. Study 2 investigated concurrent and predictive relations between imitation and other developmental skills within a sample of 26 two-year-old children with autism. Results suggested that imitation of body movements and imitation of actions with objects represent independent dimensions. Imitation of body movements was concurrently and predictively associated with expressive language skills, and imitation of actions with objects was concurrently associated with play skills. Improvements in both motor imitation domains occurred over a 1-year period.

Early recognition of autism. Parental reports vs clinical observation.

OBJECTIVE: To determine which behavioral characteristics of autism are apparent in early childhood and to examine the relative contributions of clinical observation and parental reports to early identification of autism. DESIGN: Blinded comparison of behavioral data obtained through parental reports and clinical observation. SETTING: Child development referral center. PATIENTS: Twenty-six children (23 boys and three girls) younger than age 48 months with a clinical diagnosis of autism. SELECTION PROCEDURES: Consecutive sample. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: Social interaction, communication, and activities and interests were evaluated using standard diagnostic criteria for autism. Results suggested that deficits in the areas of social interaction, imitation, play, and nonverbal communication are more prominent than insistence on sameness and routines in young children with autism. Also, parental reports and clinical observation appear to detect different aspects of abnormal behavior patterns in this sample. CONCLUSIONS: Improved awareness of the early signs of autism should help physicians recognize this disorder in a timely manner. Further research may identify how observation of play and parental reports might be incorporated efficiently into a physician's repertoire of developmental and behavioral screening tools.

Sexual attitudes and knowledge of high-functioning adolescents and adults with autism.

Interviewed 21 high-functioning adults with autism and 20 mildly to moderately mentally retarded adults without autism about sexuality and dating. Sexual knowledge and interest were assessed by a sexuality vocabulary checklist and a multiple-choice questionnaire. Group differences were found in experience, with more sexual experiences among the mentally retarded adults, but not in knowledge or interest. In both groups IQ was positively correlated with knowledge scores and males had significantly greater interest in sexuality than females. Implications of sex and group differences are discussed.