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

A case-control observational study of sleep patterns (using actigraphy and video-polysomnography) of children (=15 years old) with SYNGAP1-related intellectual disability (n=15 participants, with matched controls), to evaluate any differences in sleep pattern, sleep stages, and disorders of sleep.

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ISRCTN

Registry ID

ISRCTN30715190

Enrollment

Registered

2022-02-16

Start date

2021-10-12

Completion date

Unknown

Last updated

2025-09-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Children with SYNGAP1 gene mutation Genetic Diseases

Interventions

Observational trial performing polysomnography and actigraphy on children (<18) with SYNGAP1 gene mutation compared to controls. Once consent has been obtained to enrol a participant in the trial, th

Eligibility

Sex/Gender

All

Inclusion criteria

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

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

Design outcomes

Primary

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

Measure

Time frame

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

—

Secondary

Measure	Time frame
There are no secondary outcome measures	—

Countries

Scotland, United Kingdom

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026