Behaviour and Cognition in Children with Bardet-Biedl Syndrome v1.0

• Research type

  Research Study

• Full title

  An Investigation into Behavioural and Cognitive Profiles of Children and Young People with Bardet-Biedl Syndrome (BBS), and Comparisons with an Autistic Group.

• IRAS ID

  314479

• Contact name

  Gabrielle Leen

• Contact email

  g.leen@surrey.ac.uk

• Sponsor organisation

  University of Surrey

• Clinicaltrials.gov Identifier

  22SH06, GOSH R&D Reference Number

• Duration of Study in the UK

  1 years, 7 months, 31 days

• Research summary

  This project will investigate neurodevelopmental characteristics of children and young people (CYP) with Bardet-Biedl Syndrome (BBS), an extremely rare genetic syndrome characterised by a range of features. Reports of developmental differences are common in CYP with BBS, but empirical studies into the developmental characteristics of the syndrome are limited. This project will utilise parental report questionnaire data to investigate behavioural and emotional features of BBS. The project will also employ direct assessment of some CYP with BBS to develop a more in-depth understanding of cognitive profiles.

  Cognition will be assessed in CYP with BBS at GOSH in the BBS neurodevelopmental assessment clinic. Developmental information will also be gathered from parents/caregivers via interview, and additional assessments will be completed if indicated.

  Questionnaires will be completed by:
  1) Parents/caregivers of CYP with BBS who attend the BBS neurodevelopmental assessment clinic at Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH)
  2) Parents/caregivers of CYP with BBS via an online survey circulated through relevant support groups
  3) Parents/caregivers of autistic CYP via an online survey circulated through schools and charities, to act as a comparison group

  Data analysis will consist of descriptive and inferential analyses to describe the cognitive and behavioural profiles of CYP with BBS overall. Comparison test analyses will investigate similarities and differences between CYP with BBS and ASD. Additional analyses may look at relationships between outcomes on different measures, for example considering the impact of social or behavioural difficulties on quality of life.

• REC name

  North of Scotland Research Ethics Committee 2

• REC reference

  22/NS/0158

• Date of REC Opinion

  12 Dec 2022

• REC opinion

  Favourable Opinion