P artial trisomy 16p is a rare chromosomal anomaly in newborns: of the fewer than 30 carrier patients so far reported, most were born to parents with a balanced translocation involving the p arm of chromosome 16. Pure partial trisomy 16p has been reported in seven patients, three of whom (all showing behavioural problems with autistic traits) carried a tandem duplication of the (16)(p11.2–p12) ...

We investigate the broader autism phenotype (BAP) in siblings of individuals with autism spectrum conditions (ASC). Autistic traits were measured in typical controls (n = 2,000), siblings (n = 496), and volunteers with ASC (n = 2,322) using the Autism-Spectrum Quotient (AQ), both self-report and parent-report versions. Using cluster analysis of AQ subscale scores, two sibling subgroups were ide...

Abnormal immune responses have been reported to be associated with autism. A number of studies showed that cytokines were increased in the blood, brain, and cerebrospinal fluid of autistic subjects. Elevated IL-6 in autistic brain has been a consistent finding. However, the mechanisms by which IL-6 may be involved in the pathogenesis of autism are not well understood. Here we show that mice wit...

OBJECTIVES Recent studies have shown that women with autism spectrum disorder have higher rates of menstrual problems, including irregular menstrual cycles, unusually painful periods (dysmenorrhea), and excessive menstrual bleeding. In this study, we investigated the autistic traits in female university students with primary dysmenorrhea (PD). METHODS Seventy females with PD and 70 females wi...

Anecdotal reports and empirical evidence suggest that sensory processing issues are a key feature of autism spectrum conditions. This study set out to investigate whether adults with autism spectrum conditions report more sensory over-responsivity than adults without autism spectrum conditions. Another goal of the study was to identify whether autistic traits in adults with and without autism s...

Contagious yawning-the urge to yawn when thinking about, listening to, or viewing yawning-is a well-documented phenomenon in humans and animals. The reduced yawn contagion observed in the autistic population suggested that it might be empathy related; however, it is unknown whether such a connection applies to nonclinical populations. We examined influences from both empathy (i.e., autistic tra...

AIM As relationships between autistic traits, epilepsy, and cognitive functioning remain poorly understood, these associations were explored in the biologically related disorders tuberous sclerosis complex (TSC), neurofibromatosis type 1 (NF1), and epilepsy. METHOD The Social Responsiveness Scale (SRS), a quantitative measure of autistic traits, was distributed to caregivers or companions of ...

This chapter provides a comprehensive review of twin studies in the autism fi eld. While family studies have also made a substantial contribution to our understanding of autism, these have not been reviewed here for the practical reason of space and because several informative reviews of family studies of autism are available (e.g., Bailey, Palferman, Heavey, & Le Couteur, 1998 ; Sucksmith, Rot...

BACKGROUND Autism is a pervasive neurodevelopmental disorder,thought to be caused by a combination of genetic heritability and environmental risk factors. Some autistic-like traits have been reported in mothers of autistic children. We hypothesized that dysregulation of oxytocin (OXT), Arg-vasopressin (AVP) and sex hormones, found in autistic children, may also exist in their mothers. METHODS...

BACKGROUND It is increasingly recognised that traits associated with autism reflect a spectrum with no clear boundary between typical and atypical behaviour. Dimensional traits are needed to investigate the broader autism phenotype. METHODS AND PRINCIPAL FINDINGS Ninety-three individual measures reflecting components of social, communication and repetitive behaviours characterising autistic s...