Background: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech-language abilities, general cognitive functioning and behavioural problems in individuals with WS, considering age effects and speech-language characteristics of WS sub-groups. Methods: The…

Background: Children with 22q11.2 deletion syndrome (22q11DS) are at risk for social-behavioural and neurocognitive sequelae throughout development. The current study examined the impact of family environmental characteristics on social-behavioural and cognitive outcomes in this paediatric population. Method: Guardians of children with 22q11DS…

Background: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural…

Background: Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder that affects approximately one out of 25 000 births worldwide. To date, no research has been conducted to investigate how having an individual with SMS in a family is a positive or negative influence on siblings. Methods: To investigate this question we conducted a study…

Background: Studies have linked the behaviour problems of children with fragile X syndrome (FXS) to maternal well-being, but less is known about how behaviour problems relate to important family factors such as marital satisfaction and family cohesion. Methods: Married mothers of 115 adolescents and adults with FXS completed questionnaires and…

Background: Indiscriminate social approach behaviour is a salient aspect of the Williams syndrome (WS) behavioural phenotype. The present study examines approach behaviour in pre-schoolers with WS and evaluates the role of the face in WS social approach behaviour. Method: Ten pre-schoolers with WS (aged 3-6 years) and two groups of typically…

Background: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and…

Background: The behavioural phenotypes of Prader-Willi (PWS) and Fragile-X (FraX) syndromes both comprise repetitive behaviours with differences between the profiles. In this study we investigated the context and antecedents to the repetitive behaviours and the association with other behavioural phenotypic characteristics in order to generate…

Background: Although distinctive neuropsychological impairments have been delineated in children with chromosome 22q11 deletion syndrome (22q11DS), social skills and social cognition remain less well-characterised. Objective: To examine social skills and social cognition and their relationship with neuropsychological function/behaviour and…

Background: Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion. Methods: In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6-15), and age-, race- and gender-ratio matched samples of…