Previous evidence suggests that language function is modulated by genetic variants on chromosome 7q31-36. However, it is unclear whether this region harbors loci that contribute to speech delay in autism. We previously reported that the WNT2 gene located on 7q31 was associated with the risk of autism. Additionally, two other genes on 7q31-36,…

During face-to-face interactions typically developing individuals use gaze aversion (GA), away from their questioner, when thinking. GA is also used when individuals with autism (ASD) and Williams syndrome (WS) are thinking during question-answer interactions. We investigated GA strategies during face-to-face social style interactions with…

We compare social skills in three groups of males with sex chromosome aneuploidies (SCAs) using the Social Responsiveness Scale (SRS). Participants included males with XXY (N = 102, M = 10.08 years), XYY (N = 40, M = 9.93 years), and XXYY (N = 32, M = 11.57 years). XXY had lower (better) SRS scores compared to XYY and XXYY. Scores were not…

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with multiple genetic and environmental risk factors. The interplay between genetic and environmental factors has become the subject of intensified research in the last several years. Vitamin D deficiency has recently been proposed as a possible environmental risk…

22q11.2 deletion syndrome (22q11DS) has a complex phenotype with more than 180 characteristics, including cardiac anomalies, cleft palate, intellectual disabilities, a typical facial morphology, and mental health problems. However, the variable phenotype makes it difficult to predict clinical outcome, such as the high prevalence of psychosis among…

Research continues to try and pinpoint the etiological role of particular genes and brain structure in autistic spectrum disorder (ASD), but despite a host of biological, genetic and neuropsychological research, the symptom profile of pervasive developmental disorders (PDDs) are not yet linked to etiological theory. Debate continues around whether…

Examined autism spectrum disorder (ASD) and schizophrenia spectrum disorder (SSD) symptoms in a clinically referred, non-ASD sample (N = 1160; ages 6-18) with and without oppositional defiant disorder (ODD). Mothers and teachers completed "DSM-IV"-referenced symptom checklists. Youth with ODD were subdivided into angry/irritable symptom (AIS) or…

Autism and the related pervasive developmental disorders are a heavily researched group of neurodevelopmental conditions. In addition to core symptoms, there are a number of other physical and motor conditions that co-occur at high rates. This paper provides a review of factors and behaviors that correlate highly with disorders on the autism…

A cross-sectional design was employed. Parents of a child with Autism Spectrum Disorder (ASD) were asked to complete a modified version of the Revised Illness-Perception Questionnaire (IPQ-RA) and answer questions about information-seeking activities and treatments used. Internal consistency, construct validity, and factor structure were assessed.…

Objectives: To explore the relationship between causal beliefs on autism (CBA) and treatment choices. Design and methods: A cross-sectional design was employed. Parents of a child with autism spectrum disorder (ASD) were asked to complete the Lay-Beliefs about Autism Questionnaire (LBA-Q) and answer questions about treatments used. Only items…

Prenatal risk factors, with special focus on gender distribution of neurodevelopmental and psychiatric conditions were analysed in first-degree relatives in a population-based group of young children with autism spectrum disorders (ASD). Multiple information sources were combined. This group was contrasted with the general population regarding…

Epidemiologic studies on maternal and pregnancy risk factors for autism spectrum disorder (ASD), including use of assisted reproductive technology (ART), found conflicting results. This study included the following aims: to assess frequencies of ART in a large ASD group; to examine confounding birth and familial risk factors in the ASD with ART…

The primary objective of this study was to study the impact of ASD/ADHD on general intellectual ability and profile, executive functions and visuo-motor skills in children and adults with 22q11 deletion syndrome (22q11DS). A secondary aim was to study if gender, age, heart disease, ASD, ADHD or ASD in combination with ADHD had an impact on general…

Autism Spectrum Disorders are a class of conditions categorized by communication problems, ritualistic behaviors, and deficits in social behaviors. While evidence supporting a genetic component of Autism Spectrum Disorders (ASDs) is strong, no specific genetic marker has been identified. Thus, professionals have had to utilize intelligence tests…

This study assessed the prevalence and type of associated neuropsychiatric problems in children and adults with 22q11 deletion syndrome. One-hundred consecutively referred individuals with 22q11 deletion syndrome were given in-depth neuropsychiatric assessments and questionnaires screens. Autism spectrum disorders (ASDs) and/or attention…