NevSom, Department of Rare Disorders, Oslo University Hospital, Oslo, Norway.
Department of Psychology, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
J Intellect Disabil Res. 2021 Jul;65(7):666-674. doi: 10.1111/jir.12842. Epub 2021 May 5.
Sleep problems are common in many neurodevelopmental disorders, but little is known about how sleep is related to behavioural symptoms in Angelman syndrome (AS) or other genetic disorders. Hyperactive behaviour, sleep problems and epilepsy seem to be more common in AS than in other genetic conditions associated with severe intellectual disability. We hypothesised that both more sleep problems and earlier onset of epileptic seizures would predict more symptoms of hyperactivity. Hence, the aim of the project was to explore the association between hyperactive behaviour, sleep problems and age of epilepsy onset in individuals with AS.
All known parents/guardians (n = 115) of individuals with AS in Norway were invited to participate in this descriptive correlational study. Fifty-six individuals (49%) responded, and 42 people (25 male and 17 female; mean age 18.5 years, range 2-57 years) with genetically verified AS were included. Scores for 'hyperactivity' and 'sleep problems' were derived from questionnaire data. Information on epilepsy was obtained from medical records.
'Hyperactivity' was positively correlated with 'total sleep problems' (r = 0.46, P = 0.002) and negatively correlated with 'age of epilepsy onset' (r = -0.47, P = 0.01). 'Age of epilepsy onset' was not correlated with 'total sleep problems'. An overall multiple regression model with 'hyperactivity' as the dependent variable and 'age of epilepsy onset' and 'total sleep problems' as covariates was significant (R = 0.39, F = 8.16, P = 0.002). Hence, hyperactivity in AS could be predicted from both age of epilepsy onset and current sleep problems.
Sleep problems may increase hyperactivity symptoms in individuals with AS. The association between hyperactivity and sleep problems in AS indicates that both should be investigated together as part of routine clinical assessment and intervention for either area of difficulty. Younger age of epilepsy onset was associated with more hyperactivity in AS, which may be related to encephalopathic effects of seizures and epilepsy.
睡眠问题在许多神经发育障碍中很常见，但人们对睡眠与 Angelman 综合征（AS）或其他遗传障碍中的行为症状的关系知之甚少。与其他与严重智力障碍相关的遗传疾病相比，AS 中多动行为、睡眠问题和癫痫似乎更为常见。我们假设，更多的睡眠问题和癫痫发作的更早发作都会预测更多的多动症状。因此，该项目的目的是探讨 AS 个体中多动行为、睡眠问题与癫痫发作年龄之间的关系。
挪威所有已知的 AS 患者的父母/监护人（n=115）均受邀参加这项描述性相关性研究。56 人（49%）做出了回应，其中 42 人（25 名男性和 17 名女性；平均年龄 18.5 岁，范围 2-57 岁）患有经基因证实的 AS，并被纳入研究。“多动”和“睡眠问题”的评分源自问卷调查数据。癫痫相关信息从病历中获得。
“多动”与“总睡眠问题”呈正相关（r=0.46，P=0.002），与“癫痫发作年龄”呈负相关（r=-0.47，P=0.01）。“癫痫发作年龄”与“总睡眠问题”无关。以“多动”为因变量，“癫痫发作年龄”和“总睡眠问题”为协变量的总体多元回归模型具有统计学意义（R2=0.39，F=8.16，P=0.002）。因此，AS 中的多动可以根据癫痫发作年龄和当前睡眠问题进行预测。
睡眠问题可能会增加 AS 患者的多动症状。AS 中多动和睡眠问题之间的关联表明，两者都应作为常规临床评估和干预的一部分一起进行调查。癫痫发作年龄越小，AS 中的多动症状越严重，这可能与癫痫发作的脑病效应有关。
