University of Leicester
Browse
s11689-024-09535-y.pdf (1.99 MB)

Exploring objective measures of overactivity in children with rare genetic syndromes.

Download (1.99 MB)
Version 2 2024-05-09, 13:09
Version 1 2024-04-10, 13:58
journal contribution
posted on 2024-05-09, 13:09 authored by R O'Sullivan, S Bissell, G Agar, Jayne SpillerJayne Spiller, A Surtees, M Heald, E Clarkson, A Khan, C Oliver, B Bagshaw, C Richards

Background

Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques. Threats to the precision and validity of questionnaire data may undermine existing insights into this behaviour. Previous research indicates objective measures, namely actigraphy, can effectively differentiate non-overactive children from those with attention-deficit hyperactivity disorder. This study is the first to examine the sensitivity of actigraphy to overactivity across rare genetic syndromes associated with intellectual disability, through comparisons with typically-developing peers and questionnaire overactivity estimates.


Methods

A secondary analysis of actigraphy data and overactivity estimates from The Activity Questionnaire (TAQ) was conducted for children aged 4-15 years with Smith-Magenis syndrome (N=20), Angelman syndrome (N=26), tuberous sclerosis complex (N=16), and typically-developing children (N=61). Actigraphy data were summarized using the M10 non-parametric circadian rhythm variable, and 24-hour activity profiles were modelled via functional linear modelling. Associations between actigraphy data and TAQ overactivity estimates were explored. Differences in actigraphy-defined activity were also examined between syndrome and typically-developing groups, and between children with high and low TAQ overactivity scores within syndromes.


Results

M10 and TAQ overactivity scores were strongly positively correlated for children with Angelman syndrome and Smith-Magenis syndrome. M10 did not substantially differ between the syndrome and typically-developing groups. Higher early morning activity and lower evening activity was observed across all syndrome groups relative to typically-developing peers. High and low TAQ group comparisons revealed syndrome-specific profiles of overactivity, persisting throughout the day in Angelman syndrome, occurring during the early morning and early afternoon in Smith-Magenis syndrome, and manifesting briefly in the evening in tuberous sclerosis complex.


Discussion

These findings provide some support for the sensitivity of actigraphy to overactivity in children with rare genetic syndromes, and offer syndrome-specific temporal descriptions of overactivity. The findings advance existing descriptions of overactivity, provided by questionnaire techniques, in children with rare genetic syndromes and have implications for the measurement of overactivity. Future studies should examine the impact of syndrome-related characteristics on actigraphy-defined activity and overactivity estimates from actigraphy and questionnaire techniques.

History

Author affiliation

College of Life Sciences/Psychology & Vision Sciences

Version

  • VoR (Version of Record)

Published in

Journal of Neurodevelopmental Disorders

Volume

16

Issue

18

Publisher

BMC

issn

1866-1947

eissn

1866-1955

Copyright date

2024

Available date

2024-05-09

Notes

Embargo until publication - use VOR

Language

en

Deposited by

Dr Jayne Spiller

Deposit date

2024-04-08

Data Access Statement

The datasets analysed in the current study are available from the corresponding author, upon reasonable request.

Rights Retention Statement

  • No

Usage metrics

    University of Leicester Publications

    Categories

    No categories selected

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC