Abstract Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is
characterized by intellectual disability, well-defined facial features, upper limb anomalies …

Chromosome 22q11. 2 deletion syndrome (22q11. 2DS), a neurogenetic condition, is the
most common microdeletion syndrome affecting 1 in 2,000–4,000 live births and involving …

This briefing paper will assist Primary, Acute and Specialist NHS Trusts in fulfilling their
responsibilities. In this report we summarise the most recent evidence from the UK on the …

Background Autism spectrum disorder (ASD) has been identified as a risk marker for self‐
injurious behaviour. In this study we aimed to describe the prevalence, topography and …

The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder
characterized by the triad of congenital cataracts, intellectual disability, and proximal renal …

Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the
ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or …

Abstract Background The Behavior Problems Inventory‐01 (BPI‐01) is an informant‐based
behaviour rating instrument that was designed to assess maladaptive behaviours in …

This paper provides information about the prevalence and topography of self-injurious
behavior in children and adults with autism spectrum disorder and intellectual disability …

Background Angelman syndrome (AS) is a rare disorder with a relatively well-defined
phenotype. Despite this, very little is known regarding the unmet clinical needs and burden …

The objective of this review is to consider the psychological (largely behavioral) and
biological [neurochemical, medical (including genetic), and pharmacological] theories and …