31106
Medical and Physical Health in Children with Intellectual Disability of Genetic Aetiology with and without ASD

Poster Presentation
Friday, May 3, 2019: 5:30 PM-7:00 PM
Room: 710 (Palais des congres de Montreal)
A. C. Watkins1, H. R. Denyer1, J. Wolstencroft2, M. Erwood1, R. Srinivasan3, I. D. Imagine1 and D. H. Skuse4, (1)UCL GOS Institute of Child Health, London, United Kingdom, (2)UCL GOS ICH, London, United Kingdom, (3)UCL GOS ICH, London, United Kingdom of Great Britain and Northern Ireland, (4)Behavioural and Brain Sciences Unit, Population Policy and Practice Programme, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom
Background: Intellectual disability (ID) is characterised by limited cognitive ability and adaptive behaviour. Children with ID of genomic origin have an excess of physical health problems, but little is known about the quality and severity of medical complications in those with an associated Autism Spectrum Disorder.

IMAGINE-ID is a national UK study of over 3000 children with ID of known genetic origin (CNV or SNV). Here, we present preliminary data on the frequency of physical health difficulties of a subset of children with and without ASD.

Objectives: To ascertain whether the range and severity of physical health problems is different in children with ID/ASD of genetic origin from those without associated ASD. To compare the genetic aetiology of physical health difficulties in these groups.

Methods: Caregivers of 209 participants (aged 4-18) completed the Development and Wellbeing Assessment (DAWBA) and a comprehensive Medical Questionnaire online (62.2% had a CNV and 37.8% an SNV). Diagnoses of ASD were made by experienced clinicians, based on the DAWBA standardized interview, which has been validated by ADI/ADOS algorithms. A standardized Medical Questionnaire was administered to record medical history, current physical health and developmental milestones.

Results: Most participants had moderate to severe ID. 44.5% met diagnostic criteria for ASD, 62.4% of whom were male (53.4% of non-ASD). Mean age was 9.36 (SD 4, range 4-18) years. There were no significant group differences in chronological, developmental or language age between those with and without ASD. Children with ASD had more stomach and/or gut problems (46.2% vs 29.3%, p = .035), sleep difficulties (75.3% vs 57.8%, p = .006) and food and/or eating problems (60.2% vs 39.7%, p = .007) than those with ID alone. ASD was also associated with extreme food rituals, habits or preferences (50% vs 26.1%, p = .016).

Eye problems were more frequently associated with SNVs than CNVs (66.2% vs 50%, p = .024), as were muscle or movement difficulties (79.7% vs 56.6%, p = .003), seizures (39.2% vs 18.9%, p = .005), genital problems (23% vs 11.5%, p = .025) and bone or skeletal difficulties (29.7% vs 14.8%, p = .036). A higher proportion of SNV-carriers (48.6%) than CNV-carriers (43.4%) met criteria for an ASD, but the difference was not statistically significant.

Conclusions: Our findings indicate that high rates of physical health problems are associated with ID caused by a pathogenic CNV or SNV. Children with ID of genetic origin with associated ASD are at much higher risk of gastrointestinal problems, disturbed sleep patterns and eating difficulties than those with ID alone. Regardless of ASD diagnostic status, children with SNVs are at an enhanced risk of physical health difficulties, including muscle/movement difficulties, bone/skeletal difficulties and genital problems compared to children with CNVs. Children with SNVs had twice the risk of developing seizures compared to those with pathogenic CNVs. Recent findings by others have identified a higher proportion of pathogenic SNVs than CNVs among families with an epileptic child (Tsuchida et al., 2018).

See more of: Medical and Psychiatric Comorbidity
See more of: Medical and Psychiatric Comorbidity