Autism spectrum disorder (ASD) and fragile X syndrome (FXS) are neurodevelopmental disorders with overlapping pragmatic language impairments. Prior work suggests pragmatic language differences may run in families. This study examined specific pragmatic difficulties (i.e., linguistic mazes and perseverations) in boys (9-18 years) with idiopathic…

Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in…

Parent-reported developmental concerns can be a first step toward further screening and intervention for children at risk for ASD. However, little is known about the extent to which parental well-being and child behavior contribute to parental concerns, especially in families who already have one child with ASD. This study included 54 parents and…

Although males with fragile X syndrome (FXS) are frequently described as demonstrating autism symptomatology, there is much debate regarding whether the behavioral symptoms representing the core domains of autism are the result of the same or different underlying neurological/psychological mechanisms. The present study used a cross-sectional…

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,"…

Mothers, fathers, and siblings from 87 multiplex (M-mothers, M-fathers, and M-siblings) and 41 simplex (S-mothers, S-fathers, and S-siblings) Autism spectrum disorder families were assessed using the Broader Phenotype Autism Symptom Scale. S-mothers, S-fathers, and S-siblings showed more social interest and were more expressive in their use of…

Research examining autistic symptoms in Angelman syndrome (AS) is limited. The goal of this study was to further characterize the nature of stereotyped behaviors, social interaction deficits, and developmental disturbances in individuals with AS. Parents of 248 individuals between the ages of 3 and 22 completed a survey of autistic symptomatology…

The maladaptive behaviors, personality, and language skills of a male whose chromosome analysis showed evidence of mosaicism with karyotype 49,XXXXY and 48,XXXY are described. Research on severity of mental handicap with extra chromosomes, delayed speech development, and discrepancy between verbal and performance intelligence is examined. (JDD)