Family History of Eating Disorder and the Broad Autism Phenotype in Autism.

Autism features occur frequently among individuals with eating disorders (ED). This co-occurrence is not well understood but there is speculation that select traits (e.g.

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.

Background: Autism spectrum disorders (ASDs) comprise a range of neurodevelopmental conditions of varying severity, characterized by marked qualitative difficulties in social relatedness, communication, and behavior. Despite overwhelming evidence of high heritability, results from genetic studies to date show that ASD etiology is extremely heterogeneous and only a fraction of autism genes have been discovered.

Methods: To help unravel this genetic complexity, we performed whole exome sequencing on 100 ASD individuals from 40 families with multiple distantly related affected individuals.

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

The methyl-CpG-binding domain (MBD) gene family was first linked to autism over a decade ago when Rett syndrome, which falls under the umbrella of autism spectrum disorders (ASDs), was revealed to be predominantly caused by MECP2 mutations. Since that time, MECP2 alterations have been recognized in idiopathic ASD patients by us and others. Individuals with deletions across the MBD5 gene also present with ASDs, impaired speech, intellectual difficulties, repetitive behaviors, and epilepsy.

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci.

Background: Autism spectrum disorders (ASD) represent a group of neurodevelopmental disorders characterized by a core set of social-communicative and behavioral impairments. Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the brain, acting primarily via the GABA receptors (GABR). Multiple lines of evidence, including altered GABA and GABA receptor expression in autistic patients, indicate that the GABAergic system may be involved in the etiology of autism.

Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells.

Induced pluripotent stem cells (iPSCs) hold tremendous potential both as a biological tool to uncover the pathophysiology of disease by creating relevant cell models and as a source of stem cells for cell-based therapeutic applications. Typically, iPSCs have been derived by the transgenic overexpression of transcription factors associated with progenitor cell or stem cell function in fibroblasts derived from skin biopsies. However, the need for skin punch biopsies to derive fibroblasts for reprogramming can present a barrier to study participation among certain populations of individuals, including children with autism spectrum disorders (ASDs).

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.

Copy number variations (CNVs) are a major cause of genetic disruption in the human genome with far more nucleotides being altered by duplications and deletions than by single nucleotide polymorphisms (SNPs). In the multifaceted etiology of autism spectrum disorders (ASDs), CNVs appear to contribute significantly to our understanding of the pathogenesis of this complex disease. A unique resource of 42 extended ASD families was genotyped for over 1 million SNPs to detect CNVs that may contribute to ASD susceptibility.

The moderating effect of avoidant coping on restrained eaters' risk for disinhibited eating: implications for dietary relapse prevention.

Avoidant coping style was tested as a moderating variable for the effect of ego threat on chronic dieters' (restrained eaters) risk for disinhibited eating. Young women (n=146) were randomly assigned to a speech threat or to a no threat condition and then participated in a bogus ice cream taste test. Analyses of covariance revealed that restrained eaters who scored higher on a standardized measure of avoidant coping consumed significantly more ice cream than restrained eaters who scored lower on avoidant coping regardless of the threat condition to which they were assigned.

Examining the effectiveness of an outpatient clinic-based social skills group for high-functioning children with autism.

Although social skills group interventions for children with autism are common in outpatient clinic settings, little research has been conducted to determine the efficacy of such treatments. This study examined the effectiveness of an outpatient clinic-based social skills group intervention with four high-functioning elementary-aged children with autism. The group was designed to teach specific social skills, including greeting, conversation, and play skills in a brief therapy format (eight sessions total).