Background: It is well established that valproate, and its valproic acid, sodium valproate, and valproate semisodium forms is a highly teratogenic drug and evidence suggests that use in pregnancy leads to physical birth defects in 10% of children born compared with a background rate of 2% to 3%. Congenital malformations associated with valproate…

As medical and surgical advances improve, more young adults with congenital heart disease (CHD) are attending college. This case study illustrates some of the issues that these young adults may face as they attend college and discusses the role that college health practitioners can play in easing that transition. Participants: A case of a male…

Families who care for a child with congenital dual sensory loss (DSL) have unique challenges. Children with congenital DSL often present at birth with life threatening medical issues and limited access to the sights and sounds of their environment. Parents raising a child with DSL must learn how to communicate with their child, take care of his or…

Background: Retrospective parental reports have often been used to identify the early characteristics of children later diagnosed with a developmental disorder. Method: We applied this methodology to document 13 parents' initial concerns about the development of their 17 children later diagnosed with fragile X syndrome (FXS). Parents were…

Anxiety disorders affect ~ 15-20% of youths without neurodevelopmental disorders, with persons having autism spectrum disorder (ASD) and fragile X syndrome (FXS) at elevated risk for anxiety disorders. Few studies have compared rates and predictors of anxiety disorders in adolescents with FXS or ASD. This study directly compares rates, predictors,…

This study compared maternal responsiveness to children with two neurodevelopmental disorders sharing different but, in some cases, overlapping social phenotypes--Williams syndrome (WS) and autism spectrum disorder (ASD)--and explored the relations between maternal responsiveness and child emotional/behavioural problems (EBP). The sample included…

Individuals with fragile X syndrome (FXS), especially those co-diagnosed with autism spectrum disorder (ASD), face many sensory processing challenges. However, sensory processing measures informed by neurophysiology are lacking. This paper describes the development and psychometric properties of a parent/caregiver report, the Brain-Body Center…

Introduction: The aim of this study was to determine whether individuals with congenital blindness make more recognizable drawings of known objects that are furniture sized (table, man, tree) rather than hand sized (egg, coconut, banana; Hypothesis 1). We also investigated whether knowledge that the tactile drawings had been produced by people who…

Autism spectrum disorders affected 19 of 38 unselected children at a school for the blind in Cordoba, Argentina. Autism was linked to total congenital blindness, not blindness' etiology, acquired or incomplete blindness, sex, overt brain damage, or socioeconomic status. Autism "recovery," had occurred in 4 verbal children. Congenital…

Background: Speech-sound development in preschoolers with unilateral cleft lip and palate (UCLP) as a group is delayed/disordered, and obstruents comprise the most vulnerable sound class. Aims: To evaluate the development of obstruent correctness (PCC-obs) and error types (cleft speech characteristics (CSCs) and developmental speech…

The aim of this retrospective study, with prospective data collection, was to correlate congenital cytomegalovirus (CMV) infection with autism spectrum disorder (ASD) and to define its prevalence. Seventy proven congenitally-infected infants, born between 2007 and 2012, were referred to our centre for CMV diagnosis and follow-up, which consisted…

Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The…

Purpose: Women with congenital adrenal hyperplasia (CAH) may develop a virilized voice due to late diagnosis or suboptimal suppression of adrenal androgens. Changes in the vocal folds due to virilization have not been studied in vivo. The purpose was to investigate if the thyroarytenoid (TA) muscle is affected by virilization and correlate…

Background: There is sparse literature about problem behaviour in young children with Williams syndrome (WS) and little consideration of the perspectives of multiple respondents. Methods: Problem behaviour of 35 children with WS ages 2 to 6 was examined based on both parent and teacher report using the Achenbach preschool forms. Results: The most…

To determine the rate and predictors of autism spectrum disorder (ASD) in congenital diaphragmatic hernia (CDH). Between 06/2004 and 09/2015 a total of 110 CDH survivors underwent neurodevelopmental (ND) testing and screening for ASD, followed by a full autism diagnostic evaluation if indicated at our institution. We found a 9 time higher rate of…