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Autism needs to be considered in children with Down syndrome
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Neuropediatrics/Paediatric oncology.
Kungsgardet Ctr, Dept Hlth & Habilitat, Uppsala, Sweden.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Research group (Dept. of women´s and children´s health), Paediatric Inflammation, Metabolism and Child Health Research.ORCID iD: 0000-0002-1745-9550
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
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2019 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 108, no 11, p. 2019-2026Article in journal (Refereed) Published
Abstract [en]

Aim: To compare levels and profiles of autistic symptoms in children with Down syndrome (DS) with diagnosed autism spectrum disorder (ASD), with those with DS without ASD and with children with idiopathic autism.

Methods From a population-based cohort of 60 children with DS (age 5-17 years) with 41 participating, those with ASD were compared to those without ASD using the scores obtained with the Autism Diagnostic Observation Schedule (ADOS) Module-1 algorithm.

Results: Children with both DS and ASD had significantly higher ADOS scores in all domains compared to those without ASD. When the groups with DS, with and without ASD, were restricted to those with severe intellectual disability (ID), the difference remained. When the children with DS and ASD were compared with a group with idiopathic autism, the ADOS profile was broadly similar.

Conclusion: A considerable proportion of children with DS, exhibit autism in addition to severe ID. In addition, there is also a group of children with DS and severe ID, but without autism. There is a need to increase awareness of the high prevalence of autism in children with DS. Recognizing the prevalence of autism is important for the appropriate diagnosis and care of children with DS.

Place, publisher, year, edition, pages
2019. Vol. 108, no 11, p. 2019-2026
National Category
Psychiatry
Research subject
Pediatrics
Identifiers
URN: urn:nbn:se:uu:diva-381066DOI: 10.1111/apa.14850ISI: 000489595000013PubMedID: 31090964OAI: oai:DiVA.org:uu-381066DiVA, id: diva2:1302226
Available from: 2019-04-04 Created: 2019-04-04 Last updated: 2019-11-06Bibliographically approved
In thesis
1. Intellectual Disability and coexisting Autism and ADHD in Down syndrome - a population-based study
Open this publication in new window or tab >>Intellectual Disability and coexisting Autism and ADHD in Down syndrome - a population-based study
2019 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The thesis investigated associated neurodevelopmental/neuropsychiatric aspects in a population-based cohort of 60 children and adolescents (5–17 years) with Down syndrome (DS).

Forty-one subjects were comprehensively assessed by a clinical research team; 17 (41%) and 14 (34%) met DSM criteria for autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), respectively.

Forty-nine subjects had a formal cognitive test and 11 had clinical assessments due to profound intellectual disability (ID). Mild ID (IQ 50–70) was found in 9% of the teenagers (13–18 years) and in 35% of the younger (5–12 years) children. Corresponding figures for severe ID (IQ <50) were 91% and 65%, respectively. The ID was more severe in individuals with coexisting ASD.

Levels and profiles of autistic symptoms, according to ADOS Module-1, were analysed. Children with DS and ASD, with different levels of ID, had significantly more symptoms within all autism domains, than those with DS only – a difference which remained when subgroups with severe ID were compared. A considerable proportion of subjects with DS had ASD in addition to ID, but there was a group with DS and severe ID without ASD. The autism profiles of children with DS and ASD were similar to those of children with idiopathic autism. The commonly used investigation tools used to diagnose ASD in the study, seemed to be appropriate in this patient group.

An intervention programme, including education for parents and school staff, adapted to the specific needs of schoolchildren with DS and ASD was performed and evaluated. Although the studied group comprised older children and adolescents, most of whom with severe or profound ID, they could achieve goals and skills previously not managed. In addition, the parents’ views on the intervention were encouraging.

In conclusion, there is a need of awareness of the increased prevalence of ASD and ADHD in children with DS. We suggest that screening for ASD and ADHD should be implemented for children with DS at the age of 3–5 years and at early school years, respectively. We also suggest that children with DS should be re-evaluated regarding level of ID before entering secondary school.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2019. p. 61
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 1570
Keywords
Down syndrome, intellectual disability, autism spectrum disorder, attention-deficit/hyperactivity disorder, autism phenotype, autism intervention.
National Category
Medical and Health Sciences
Research subject
Pediatrics
Identifiers
urn:nbn:se:uu:diva-381779 (URN)978-91-513-0649-0 (ISBN)
Public defence
2019-06-07, Rosénsalen, Akademiska Barnsjukhuset, Uppsala, 13:15 (Swedish)
Opponent
Supervisors
Available from: 2019-05-16 Created: 2019-04-12 Last updated: 2019-06-18

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Wester Oxelgren, UlrikaMyrelid, ÅsaAnnerén, GöranGustafsson, Jan

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