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 q...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-04-01
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| Series: | Journal of Neurodevelopmental Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s11689-024-09535-y |
| _version_ | 1827277390699560960 |
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| author | Rory O’Sullivan Stacey Bissell Georgie Agar Jayne Spiller Andrew Surtees Mary Heald Emma Clarkson Aamina Khan Christopher Oliver Andrew P. Bagshaw Caroline Richards |
| author_facet | Rory O’Sullivan Stacey Bissell Georgie Agar Jayne Spiller Andrew Surtees Mary Heald Emma Clarkson Aamina Khan Christopher Oliver Andrew P. Bagshaw Caroline Richards |
| author_sort | Rory O’Sullivan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-24T07:19:03Z |
| format | Article |
| id | doaj.art-f0d73da6a8414278be775542b1506da8 |
| institution | Directory Open Access Journal |
| issn | 1866-1955 |
| language | English |
| last_indexed | 2024-04-24T07:19:03Z |
| publishDate | 2024-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neurodevelopmental Disorders |
| spelling | doaj.art-f0d73da6a8414278be775542b1506da82024-04-21T11:08:48ZengBMCJournal of Neurodevelopmental Disorders1866-19552024-04-0116111810.1186/s11689-024-09535-yExploring an objective measure of overactivity in children with rare genetic syndromesRory O’Sullivan0Stacey Bissell1Georgie Agar2Jayne Spiller3Andrew Surtees4Mary Heald5Emma Clarkson6Aamina Khan7Christopher Oliver8Andrew P. Bagshaw9Caroline Richards10School of Psychology, University of BirminghamSchool of Psychology, University of BirminghamSchool of Life & Health Sciences, Aston UniversitySchool of Psychology and Vision Sciences, University of LeicesterSchool of Psychology, University of BirminghamBlackpool Teaching Hospitals NHS Foundation TrustThe Huntercombe GroupCerebra Network for Neurodevelopmental Disorders, University of BirminghamSchool of Psychology, University of BirminghamSchool of Psychology, University of BirminghamSchool of Psychology, University of BirminghamAbstract 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.https://doi.org/10.1186/s11689-024-09535-yActigraphyOveractivityHyperactivityRare genetic syndromesChildrenObjective |
| spellingShingle | Rory O’Sullivan Stacey Bissell Georgie Agar Jayne Spiller Andrew Surtees Mary Heald Emma Clarkson Aamina Khan Christopher Oliver Andrew P. Bagshaw Caroline Richards Exploring an objective measure of overactivity in children with rare genetic syndromes Journal of Neurodevelopmental Disorders Actigraphy Overactivity Hyperactivity Rare genetic syndromes Children Objective |
| title | Exploring an objective measure of overactivity in children with rare genetic syndromes |
| title_full | Exploring an objective measure of overactivity in children with rare genetic syndromes |
| title_fullStr | Exploring an objective measure of overactivity in children with rare genetic syndromes |
| title_full_unstemmed | Exploring an objective measure of overactivity in children with rare genetic syndromes |
| title_short | Exploring an objective measure of overactivity in children with rare genetic syndromes |
| title_sort | exploring an objective measure of overactivity in children with rare genetic syndromes |
| topic | Actigraphy Overactivity Hyperactivity Rare genetic syndromes Children Objective |
| url | https://doi.org/10.1186/s11689-024-09535-y |
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