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…

Cornelia de Lange syndrome (CdLS) is associated with repetitive and self-injurious behaviors (RBs, SIB). Evaluating children with CdLS, this study: (1) characterizes the spectrum of RBs; (2) characterizes the impact and severity of RBs including SIB; (3) describes how age and adaptive functioning relate to RBs including SIB. Fifty children…

Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently, we search for possible genotype-phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a…

Despite the potential positive impact of augmentative and alternative communication, the literature suggests that many individuals with disabilities experience barriers in developing communication skills and access to appropriate supports. Parents can provide valuable insight into the barriers and facilitators experienced by their children with…

Background: The current study focuses on mothers and fathers of children with three rare genetic syndromes that are relatively unexplored in terms of family experience: Angelman syndrome, Cornelia de Lange syndrome and Cri du Chat syndrome. Method: Parents of children with Angelman syndrome (n = 15), Cornelia de Lange syndrome (n = 16) and Cri du…

An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n = 130, M age = 17.19), Fragile X syndrome (n = 182, M age = 16.94), and autism spectrum disorder (n = 142, M…

Background: Several researchers have reduced engagement in stereotypy in individuals with intellectual disability and deafblindness using interventions containing a punishment component. The purpose of our study was to examine whether we could produce reductions in stereotypy in an individual with Cornelia de Lange syndrome and deafblindness by…

School-age children with dysfunctional elimination syndrome (DES) do not always have school support for their treatment plans, including an every 2-hr voiding schedule. The objective of this study was to increase school support of treatment plans by allowing access to bathrooms, thereby improving continence. An eight-question survey about bathroom…

Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure…

Lack of privacy, risk of bullying, limited access, lack of essential products for good hygiene, and dirty bathrooms can all contribute to encouraging a child to withhold urine and stool while in school. Withholding behaviors over time can create a condition known as dysfunctional elimination syndrome (DES). DES is any pattern of voiding or…

Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri du Chat syndromes using robust assessments. The Autism Diagnostic Observation Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat…

Reinforcement learning theory has been extensively used to understand the neural underpinnings of instrumental behaviour. A central assumption surrounds dopamine signalling reward prediction errors, so as to update action values and ensure better choices in the future. However, educators may share the intuitive idea that reinforcements not only…

This document consists of a collection of fourteen information brochures, each issued in both an English and a French version. Each brochure describes the symptoms of a particular disability and provides recommended classroom interventions and additional resources. This collection covers the following disabilities (arranged alphabetically and…

Developmental science integrates concepts from developmental medicine, human genetics, developmental and clinical psychology to understand behavioural adjustment and maladjustment in children, adolescents and adults as a product of the transactions between the child, its biological organization and its social experience. Put into such a…

Background: The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in…