The study aimed to identify the mediating role of emotional intelligence and social competences in the relationship between gender and broad autism phenotype (BAP) as well as between age and BAP. It comprised 85 parents of children with ASD. They completed the questionnaires of Autism-Spectrum Quotient, social competences, and emotional…

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we…

Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30%…

Diminished response to name, a potential early marker of autism spectrum disorder (ASD), may also indicate risk for other disorders characterized by attention problems, including attention-deficit/hyperactivity disorder (ADHD). Using a familial risk design, we examined whether response to name ability at 6, 12, 18, 24, and 36 months of age…

To date, health related quality of life (QoL) has not been systematically evaluated in youth with fragile X syndrome (FXS), the most common single gene cause of autism and the most common inherited form of developmental disability. We describe QoL data gathered using the Pediatric Quality of Life Inventory (PedsQL) completed online by 364 parents…

Smith-Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age,…

Parents of toddlers with an older sibling with autism spectrum disorder (ASD; high risk, HR) and parents of low risk (LR) toddlers with typically-developing older siblings read a wordless picture book to their child at 22 and 28 months. Parents' and toddlers' internal state language (ISL) was coded; parents reported on toddlers' use of ISL.…

This study examined trajectories of daily living skills, behavior problems, body mass index (BMI), and health conditions spanning nearly a decade in adolescents and adults with fragile X syndrome (N = 134; age range at study end = 19-49 years), examining influences of sex and autism spectrum disorder (ASD) symptoms. Hierarchical linear modeling…

The development of an expressive language score for people with autism based on the ADOS-2 was recently reported by Mazurek et al. (2019). The current study examined the construct validity of the ADOS-2 expressive language score (ELS) in a sample of adolescents with fragile X syndrome (n = 45, 10 girls), a neurodevelopmental disorder with high…

Several studies have suggested an association between vitamin D in childhood and autism spectrum disorder. No prospective studies have evaluated whether lower vitamin D levels precede ASD diagnoses -- a necessary condition for causality. The objective of this study was to prospectively evaluate whether vitamin D serum levels in early childhood was…

Empathy is an essential component of human social life. It requires the ability to understand another's mental state and respond with an appropriate emotion or action. Individuals with autism spectrum disorder (ASD) have been described to exhibit atypical empathic responses which limit communication and social interactions. This review highlights…

Gold-standard diagnostic assessments of autism spectrum disorder (ASD) symptomatology were conducted on 63 children (mean CA: 8.81 years) with 7q11.23 duplication syndrome, one of the copy number variants identified by Sanders et al. ("Neuron" 70:863-885, 2011a) as associated with ASD. ASD classification rate was 39.6% for the Autism…

Background: The present study aimed at investigating mother-child dyadic co-regulation patterns in dyads with children with intellectual disability (ID). Method: 24 children paired for developmental age and vocabulary size (8 with chromosome 14 aberrations, 8 with Down syndrome, and 8 with typical development) and their mothers participated in the…

Friendships and social participation are key domains of quality of life for individuals with intellectual disabilities. This study examined the friendships, social and recreational activities, and family social networks of individuals with intellectual disabilities from two distinct diagnostic groups: individuals diagnosed with fragile X syndrome…

Phenotypic elements of autism spectrum disorder can be masked by attention-deficit/hyperactivity disorder symptoms, potentially leading to a misdiagnosis or delaying an autism spectrum disorder diagnosis. This study explored differences in the age of autism spectrum disorder diagnosis between participants with previously diagnosed…