Hyperactive behaviour in Angelman syndrome: the association with sleep problems and age of epilepsy onset

Abstract

Background 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. Method 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. Results 'Hyperactivity' was positively correlated with 'total sleep problems' (r = 0.46, P = 0.002) and negatively correlated with 'age of epilepsy onset' (r = À0.47, 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 2 = 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. Conclusions 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.

Behavioural sleep problems in children and adults with intellectual disabilities: An integrative literature review

“…People with additional diagnoses have increased likelihood of sleep issues, particularly those with autism (Ballester et al, 2019; Bishop‐Fitzpatrick & Rubenstein, 2019; Elrod & Hood, 2015; Gunes et al, 2019; Köse et al, 2017), attention deficit hyperactivity disorder (Bakke et al, 2021; Chan et al, 2019; Esbensen, Vincent, et al, 2022), dementia or comorbid mental health conditions (Esbensen et al, 2018; Köse et al, 2017), comorbid physical health conditions (Esbensen et al, 2018), physical health conditions known to cause pain (Esbensen et al, 2021; Trickett et al, 2018) and sensory problems including hearing and visual disabilities (Stores, 2019).…”

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

“…Activity amongst the AS group may have also been biased by the sole inclusion of children with UBE3A deletion, whose mobility is developmentally delayed relative to those with other AS genotypes [ 62 ]. In addition, activity of the AS and SMS samples may have been skewed as the inclusion criteria required children to experience sleep difficulties, which are positively associated with overactivity [ 15 , 18 , 19 ]. Despite this bias, the findings retain broad representativeness as sleep difficulties are prevalent amongst AS and SMS populations, occurring in approximately 70% and 95% of individuals, respectively [ 89 ].…”

“…Several rare genetic syndromes associated with intellectual disability evidence heightened rates of overactivity, amongst these syndromes are Smith-Magenis syndrome (SMS, 74.2-94.0% [ 3 , 4 ], tuberous sclerosis complex (TSC, 54.8-56.0% [ 5 , 6 ]), and Angelman syndrome (AS, 50.0-94.0% [ 7 ]). The clinical significance of overactivity in neurodevelopmental conditions, broadly, and rare genetic syndromes, more specifically, is highlighted by associations with greater caregiving challenges and stress [ 8 , 9 ], persistent self-injury [ 10 – 12 ] and aggressive behaviour [ 12 – 14 ], as well as sleep difficulties and disorders [ 15 – 20 ]. Recent evidence also indicates that overactivity is associated with lower self-help abilities within specific rare genetic syndrome populations [ 21 , 22 ].…”

Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support

“…Separation distress can lead to aggressive behaviours , such as hair pulling and grabbing people [ 128 ]. Other features include sensory processing differences , hyperactivity , inattention , and sleep difficulties [ 129 ]. Seizures are common [ 78 ] • Shared enjoyment of interaction [ 69 ] • Increased eye contact, smiling, laughing [ 74 ] and gesture [ 75 ] • Age-related decline in social motivation [ 74 ] • Genetic subtype and epilepsy [ 78 ] Down syndrome (DS) Trisomy of chromosome 21 [ 130 ] ID severity ranges from mild to severe [ 79 ] Relative strengths in social functioning [ 85 ].…”