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

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.

Safe transport of children with disabilities and medical conditions: Caregiver experiences.

BACKGROUND: Road vehicle transportation is essential to support community access and participation for all children. However, little is known about the transport patterns of children with disabilities and medical conditions and their caregivers' experiences supporting them to be transported safely in road vehicles in Australia. AIM: To understand the transport needs of children with disabilities and medical conditions and the transport needs of their caregivers. MATERIALS AND METHODS: A large-scale national survey was undertaken online to explore the experiences and perspectives of 193 caregivers, identifying the challenges and needs associated with providing and supporting safe road transportation for their children. RESULTS: Caregivers believed their child was missing out on participating in everyday life due to their transportation needs, with caregivers experiencing multiple challenges and barriers to transporting their child safely. CONCLUSIONS AND SIGNIFICANCE: There is a need to provide knowledge and support to caregivers who are primarily responsible for the safe transportation of their children with disabilities and medical conditions.

Sleep in children with Smith-Magenis syndrome: a case-control actigraphy study.

STUDY OBJECTIVES: The objectives of the study were (1) to compare both actigraphy and questionnaire-assessed sleep quality and timing in children with Smith-Magenis syndrome (SMS) to a chronologically age-matched typically developing (TD) group and (2) to explore associations between age, nocturnal and diurnal sleep quality, and daytime behavior. METHODS: Seven nights of actigraphy data were collected from 20 children with SMS (mean age 8.70; SD 2.70) and 20 TD children. Daily parent/teacher ratings of behavior and sleepiness were obtained. Mixed linear modeling was used to explore associations between total sleep time and daytime naps and behavior. RESULTS: Sleep in children with SMS was characterized by shorter total sleep time (TST), extended night waking, shorter sleep onset, more daytime naps, and earlier morning waking compared to the TD group. Considerable inter-daily and inter-individual variability in sleep quality was found in the SMS group, so caution in generalizing results is required. An expected inverse association between age and TST was found in the TD group, but no significant association was found for the SMS group. No between-group differences in sleep hygiene practices were identified. A bidirectional negative association between TST and nap duration was found for the SMS group. In the SMS group, increased afternoon sleepiness was associated with increased irritability (p = .007) and overactivity (p = .005). CONCLUSION: These findings evidence poor sleep quality in SMS and the need to implement evidence-based interventions in this population.

Multi-Method Assessment of Sleep in Children With Angelman Syndrome: A Case-Controlled Study.

Objectives: To assess sleep quality and timing in children with Angelman syndrome (AS) with sleep problems using questionnaires and actigraphy and contrast sleep parameters to those of typically developing (TD) children matched for age and sex. Methods: Week-long actigraphy assessments were undertaken with children with AS (n = 20) with parent-reported sleep difficulties and compared with age and sex matched TD controls. The presence of severe sleep problems was assessed using the modified Simonds and Parraga sleep questionnaire. Sleep hygiene was measured using the Family Inventory of Sleep Habits. Results: Actigraphy and parent-completed sleep diary data indicated that children with AS had significantly earlier bedtimes (p = .003, Cohen d = .47) and poorer sleep efficiency (78%, p = .04, d = .33) than TD children (84%). No significant differences in total sleep time, sleep onset latency or wake after sleep onset were found between the two groups. The expected relationship between later bedtimes and increasing age found for the TD group (p < .001, ß.78) was not evidenced for the AS group (p = .09, ß.39). Considerable inter-individual and night to night variation in actigraphy assessed total sleep time and wake after sleep onset was found for children with AS compared to TD children. Parent report indicated that a greater proportion of children with AS had severe night waking problems compared to TD children (81 versus 5%). No significant differences in sleep hygiene and excessive daytime sleepiness were found between the two groups (p > .05). Conclusions: This study reports the largest objective dataset of sleep quality parameters in children with AS. Sleep quality in this group was characterised by poor efficiency and significant intra- and inter-individual variability that warrants further investigation. This variability should inform assessment and intervention for sleep in children with AS, as averages of total sleep, even across a 7 day period may not capture the difficulties with night waking highlighted by parental questionnaire report.