Background: Self-injuring acts are among the most dramatic behaviours exhibited by human beings. There is no known single cause and there is no universally agreed upon treatment. Sophisticated sequential and temporal analysis of behaviour has provided alternative descriptions of self-injury that provide new insights into its initiation and…

Background: Genetically Williams syndrome (WS) promises to provide essential insight into the pathophysiology of cortical development because its ~28 deleted genes are crucial for cortical neuronal migration and maturation. Phenotypically, WS is one of the most puzzling childhood neurodevelopmental disorders affecting most intellectual…

Background: Increasing attention has been paid to the executive dysfunction hypothesis argued to underpin stereotyped behaviour in autism. The aim of this study is to investigate one component of this model, that stereotyped behaviours are related to impaired generativity and compromised behavioural inhibition, by examining whether episodes of…

Background: This study addresses the question to what extent visual impairment leads to additional disability in adults with intellectual disabilities (ID). Method: In a multi-centre cross-sectional study of 269 adults with mild to profound ID, social and behavioural functioning was assessed with observant-based questionnaires, prior to expert…

Background: Behaviour problems and a preference for adult contact are reported to be prominent in the phenotype of Smith-Magenis syndrome. In this study we examined the relationship between social interactions and self-injurious and aggressive/disruptive behaviour in Smith-Magenis syndrome to explore potential operant reinforcement of problem…

Background: Meaningful communication with people with profound communication difficulties depends on the ability of carers to recognize and translate many different verbal cues. Carers appear to be intuitively skilled at identifying distress cues, but have little confidence in their observations. To help in this process, a number of pain tools…

Rett syndrome is a neuro-developmental disorder that almost exclusively affects females. In addition to neuro-developmental regression and loss of hand skills, apraxia, deceleration of head growth, and increasing spasticity and scoliosis, a number of behavioural features are also seen, including stereotypic hand movements, hyperventilation and…

Background: Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes B-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism. So far, six cases, all boys, have been reported in the literature. Roifman…

Background: Recent research has shown that the range of repetitive behaviour seen in individuals with Prader-Willi syndrome (PWS) extends beyond food-related behaviour. Methods: The presence and intensity of repetitive, rigid and routinized behaviour in children with PWS was compared with that seen in children with another neurodevelopmental…

Background: Autism spectrum disorder (ASD) includes symptoms that vary in severity and frequency between children. Consequently, multiple psychometric assessment procedures are recommended to detect an ASD, including scales which asses the presence and nature of ASD-related behaviour. However, to date, few studies have examined the relative and…

Background: Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. Methods: In total, 56 individuals with CdLS…

Background: Prader-Willi syndrome (PWS) is associated with a characteristic behavioural phenotype whose main features are, alongside compulsive hyperphagia, deficits in social behaviour: social withdrawal, temper tantrums, perseverative speech and behaviour, mental rigidity, stereotyped behaviour, impulsiveness, etc. Similar symptoms may also be…

Abstract: Background Most research on children's social problem-solving skills is based on responses to hypothetical vignettes. Just how these responses relate to actual behaviour in real-life social situations is, however, unclear, particularly for children with mild intellectual disabilities (MID). Method: In the present study, the spontaneous…