title: Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.
abstract: BACKGROUND
  The mucopolysaccharide disorders (MPS) are a group of recessively inherited metabolic disorders resulting in progressive physical and cognitive decline.
  
  
  METHODS
  MEDLINE, PsycINFO and Embase databases were searched, alongside manual screening, to identify relevant literature. Papers were included in the review if they were published in a peer reviewed journal and conducted empirical research into cognitive, motor, social or linguistic development or behaviour in one or more MPS disorders.
  
  
  RESULTS
  Twenty-five papers were reviewed. Two papers used methodology of a sufficiently high standard to demonstrate a behavioural phenotype; both found sleep disturbance to be part of the phenotype of MPS III. Fearfulness and sleep disturbance were frequently observed in people with MPS I and II. Cognitive and motor impairment and decline, and challenging behaviour were highly prevalent in the severe form of MPS II. Cognitive decline and severe behavioural problems relating to aggression, hyperactivity, orality, unusual affect and temper tantrums were seen in MPS III.
  
  
  CONCLUSIONS
  Sleep disturbance is part of the behavioural phenotype of MPS III, and challenging behaviour is highly prevalent in MPS II and MPS III, therefore the efficacy of behavioural interventions for these populations should be investigated. Further research into the behaviour and adaptive skills of children with MPS III and MPS IV is required.
authors: Department of Clinical Psychology, University of Manchester, Manchester, UK. elaine.cross@nhs.net
authors: E M
authors: EM
authors: Cross
authors: D J
authors: DJ
authors: Hare
mesh_terms: D001519:Behavior / Q000502:physiology; D003072:Cognition Disorders / Q000503:physiopathology*; D006801:Humans; D008037:Linguistics; D009083:Mucopolysaccharidoses / Q000503:physiopathology* / Q000523:psychology*; D010641:Phenotype; D012893:Sleep Wake Disorders / Q000503:physiopathology; D012920:Social Behavior Disorders / Q000503:physiopathology*
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