Exploring an objective measure of overactivity in children with rare genetic syndromes

Abstract

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.

Publication DOI: https://doi.org/10.1186/s11689-024-09535-y
Divisions: College of Health & Life Sciences > School of Psychology
College of Health & Life Sciences
College of Health & Life Sciences > Aston Institute of Health & Neurodevelopment (AIHN)
Aston University (General)
Funding Information: The current secondary analysis was funded by Cerebra and the University of Birmingham. The collection of the original data, on which this secondary analysis is based, was funded by Cerebra, the Baily Thomas Charitable Fund, and Health Education West Midla
Additional Information: © The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made.
Uncontrolled Keywords: Overactivity,Actigraphy,Rare genetic syndromes,Objective,Questionnaire,Children,Angelman syndrome,Smith-Magenis syndrome,Hyperactivity,Tuberous sclerosis complex
Publication ISSN: 1866-1955
Data Access Statement: The datasets analysed in the current study are available from the corresponding author, upon reasonable request.
Last Modified: 25 Nov 2024 08:53
Date Deposited: 01 May 2024 13:44
Full Text Link:
Related URLs: http://www.scop ... tnerID=8YFLogxK (Scopus URL)
PURE Output Type: Article
Published Date: 2024-04-18
Published Online Date: 2024-04-18
Accepted Date: 2024-04-05
Submitted Date: 2023-07-28
Authors: O’Sullivan, Rory
Bissell, Stacey
Agar, Georgie (ORCID Profile 0000-0001-8707-8713)
Spiller, Jayne
Surtees, Andrew
Heald, Mary
Clarkson, Emma
Khan, Aamina
Oliver, Christopher
Bagshaw, Andrew P.
Richards, Caroline

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