Evaluation of sleep in the genetic condition known as SYNGAP1, in children who have SYNGAP1-related intellectual disability

Not Applicable

Completed

Conditions: Children with SYNGAP1 gene mutation
Genetic Diseases

Registration Number: ISRCTN30715190

Lead Sponsor: Accord (United Kingdom)

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: All

Target Recruitment: 30

Inclusion Criteria

1. Have a confirmed SYNGAP1 gene variant
2. Be 15 years of age or younger
3. Live in the UK (Scotland, England, Wales or Northern Ireland)
4. Be able to consent to participation themselves or have a parent or someone with parental responsibility to consent on their behalf
5. Have a study partner who can complete questionnaires about them

Exclusion Criteria

1. Living outwith the UK
2. Lacking capacity to consent to participation themselves and lacking a parent or someone with parental responsibility to consent on their behalf
3. Aged 16 years or over
4. Lacking a study partner who can complete questionnaires

Study & Design

Study Type: Observational

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
1. Childhood Sleep Habits questionnaire - Provided once consent has been given, to be completed at participants' convenience prior to the home visits<br>2. Paediatric Quality of Life Inventory - Provided once consent has been given, to be completed at participants' convenience prior to the home visits<br>3. Sleep diary – Provided once consent has been given, to be completed at the same time as actigraphy<br>4. Rest/activity cycle measured using actigraphy – 7 consecutive days/nights, commencing 5 days before polysomnography, and continuing during 2 nights of polysomnography<br>5. Electrical activity during sleep measured using Overnight Simplified Polysomnography – days 6 and 7 of actigraphy

Secondary Outcome Measures