The Study to Explore Early Development (SEED) is a multi-site case-control study designed to explore the relationship between autism spectrum disorder (ASD) phenotypes and etiologies. The goals of this paper are to (1) describe the SEED algorithm that uses the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule…

Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two…

Children and adolescents with autism spectrum disorder (ASD) are at risk for emotional dysregulation and behavior problems that can escalate to levels requiring psychiatric hospitalization. Evaluating the etiology of such behaviors can be challenging for health care providers, as individuals with ASD can have difficulty self-reporting concerns.…

Restricted and repetitive behaviors (RRBs) are characteristic of autism spectrum disorders (ASD). However, compared to social and communicative impairments, less is known about their development, trajectory and etiology. This study explored RRBs in young children with ASD matched to typically developing (TD) children on non-verbal development.…

The present study examined genetic and shared environment contributions to quantitatively-measured autism symptoms and categorically-defined autism spectrum disorders (ASD). Participants included 568 twins from the Interactive Autism Network. Autism symptoms were obtained using the Social Communication Questionnaire and Social Responsiveness…

Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes ("STX1A,"…

Although fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine…

Siblings of children with developmental disabilities were assessed twice, 2 years apart (N = 75 at Time 1, N = 56 at Time 2). Behavioral adjustment of the siblings and their brother or sister with developmental disability was assessed. Comparisons of adjustment for siblings of children with autism, Down syndrome, and mixed etiology mental…

Literature concerning minor physical anomalies (MPA) and their relation to behavior is reviewed. MPA appeared to be associated with pathology in boys, severity of hyperactivity, IQ, school achievement, and obstetrical complications. (Author/CL)

Different genetic disorders predispose individuals to display specific, etiology-related profiles, personalities, and maladaptive behaviors. Using groups with genetic etiologies as stand-ins or proxies for a specific behavior or set of behaviors, one can then examine how others in the child's environment react and whether such reactions are…

A study examined the cognitive and behavioral profiles in 10 individuals (ages 14-51) with Smith-Magenis syndrome. Results found the individuals showed significant relative weaknesses in sequential processing and strengths in naming a partially completed drawing, identifying things, and in reading/decoding. Behavioral findings indicated…

A study examined the relationship between neuroimaging findings and the behavioral characteristics of 29 patients with tuberous sclerosis. Findings indicate a positive linear relationship between a patient's total number of tubers and degree of intellectual impairment. The number of tubers in the cerebellum was associated with more autistic…