The behavioural phenotype in MPS IH

• Research type

  Research Study

• Full title

  The behavioural phenotype in Mucopolysaccharidosis type IH (Hurler Syndrome)

• IRAS ID

  142648

• Contact name

  Richard Brown

• Sponsor organisation

  University of Manchester

• Duration of Study in the UK

  1 years, 2 months, 27 days

• Research summary

  MPS I is a genetic disorder that causes certain molecules (called glycosaminoglycans) to accumulate in different tissues in the body. This, in turn, affects the way that many systems in the body work, including the heart, joints, lungs, learning and behaviour. Symptoms develop in the first years of life and, untreated, the severe form of the disorder (MPS IH) leads to death in the early teens. About 1 in 100000 children are born with MPS I in England.

  The treatment of MPS IH has improved considerably in the last 20 years. Even with the most advanced treatments, though, children require intensive on-going monitoring and treatment, for example surgical interventions, physiotherapy and help at school for their learning problems.

  Most of the research into MPS IH has focussed on the physical effects of the disorder and improving treatments. Therefore, the impact of MPS IH on learning and behaviour has received relatively little attention. The proposed study aims to fill this gap and identify behaviours typical of children with MPS IH. All children with MPS IH diagnosis aged 2.5-18 years, who are patients at the Willink Biochemical Genetics Unit in Manchester, will be invited to participate. The children’s parents will complete questionnaires focussing on general behaviour, social communication, sleep and parenting stress. The MPS IH group will be compared to children with intellectual disabilities (recruited through charities for individuals with intellectual disabilities) and typically developing children (recruited through local schools and advertisements).

  The study will also explore the relationship between the behaviour of children with MPS IH and the kind of treatment they have had, the way the disorder affects them, and their learning skills. The findings will provide information that will help further improve the care and support of these children and their families.
  

• REC name

  North West - Greater Manchester Central Research Ethics Committee

• REC reference

  15/NW/0077

• Date of REC Opinion

  19 Mar 2015

• REC opinion

  Further Information Favourable Opinion