Autism needs to be considered in children with Down Syndrome

Oxelgren, Ulrika Wester; Åberg, Marie Moström; Myrelid, Åsa; Annerén, Göran; Westerlund, Joakim; Gustafsson, Jan Åke; Fernell, Elisabeth

doi:10.1111/apa.14850

Cited by 10 publications

(4 citation statements)

References 27 publications

(39 reference statements)

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“…There is still, however, some diagnostic overshadowing, and some clinicians may be slower to diagnose autism in children with a known genetic syndrome (e.g. Down syndrome; Wester Oxelgren et al, ) than those without.…”

Section: The Changing Concept Of Autism: 6 From Pure To Complexmentioning

confidence: 99%

Annual Research Review: Looking back to look forward – changes in the concept of autism and implications for future research

Happé

Frith

2020

Child Psychology Psychiatry

239

158

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The concept of autism is a significant contribution from child psychiatry that has entered wider culture and public consciousness, and has evolved significantly over the last four decades. Taking a rather personal retrospective, reflecting on our own time in autism research, this review explores changes in the concept of autism and the implications of these for future research. We focus on seven major changes in how autism is thought of, operationalised, and recognised: (1) from a narrow definition to wide diagnostic criteria; (2) from a rare to a relatively common condition, although probably still under‐recognised in women; (3) from something affecting children, to a lifelong condition; (4) from something discreet and distinct, to a dimensional view; (5) from one thing to many ‘autisms’, and a compound or ‘fractionable’ condition; (6) from a focus on ‘pure’ autism, to recognition that complexity and comorbidity is the norm; and finally, (7) from conceptualising autism purely as a ‘developmental disorder’, to recognising a neurodiversity perspective, operationalised in participatory research models. We conclude with some challenges for the field and suggestions for areas currently neglected in autism research.

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Section: The Changing Concept Of Autism: 6 From Pure To Complexmentioning

confidence: 99%

Annual Research Review: Looking back to look forward – changes in the concept of autism and implications for future research

Happé

Frith

2020

Child Psychology Psychiatry

239

158

View full text Add to dashboard Cite

show abstract

“…Of note, the characteristics that were identified as differentiating children with DS-ASD from other children with DS only, as articulated by survey respondents, are consistent with scoring algorithm items on the Autism Diagnostic Observation Schedule (ADOS)—the “gold standard” diagnostic tool for diagnosing ASD in the general community (Lord et al, 2000 ). Individuals with DS-ASD have been shown to have similar ADOS profiles as children with idiopathic ASD (Oxelgren et al, 2019 ).…”

Section: Discussionmentioning

confidence: 99%

Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers

Spinazzi

Velasco

Wodecki

et al. 2023

J Autism Dev Disord

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This study aimed to learn about the experiences of families of individuals with a dual diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) (DS-ASD), and to document the journey from early concerns to diagnosis and intervention. Caregivers completed an online survey describing their journey raising a child with DS-ASD. Survey responses were analyzed qualitatively and coded into categories to highlight common themes. Stereotypy, severe communication impairments, and behavioral difficulties prompted caregivers to pursue further evaluation. There was a mean 4.65-year gap between first noticing symptoms and receiving an ASD diagnosis. Several therapeutic interventions were identified as beneficial, including behavioral and communication support. Caregivers expressed frustration and described high levels of stress and social isolation. The diagnosis of ASD in children with DS is often delayed, and caregivers’ initial concerns are frequently dismissed. Raising a child with DS-ASD can lead to social isolation and elevated caregiver stress. More research is needed to tailor diagnostic algorithms and therapeutic interventions to the unique needs of this patient population. Caregivers yearn for improved understanding of DS-ASD, more targeted therapies and educational programs, and more overall support.

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“…Specifically, children with DS and clinically significant autism characteristics are more likely to acquire language later and be less likely to communicate using phrases and sentences than children with DS alone [ 83 ]. Notably, there is evidence of subgroups of people with DS and severe ID who are not autistic [ 84 ], suggesting that the presentation of autism in DS cannot solely be accounted for severity of ID. It has been hypothesised that individuals with DS overcome functional difficulties by adapting to social environments [ 85 ].…”

Section: Broader Phenotypic Characteristicsmentioning

confidence: 99%

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

Jenner

Richards

Howard

et al. 2023

Curr Dev Disord Rep

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Purpose of Review Elevated prevalence of autism characteristics is reported in genetic syndromes associated with intellectual disability. This review summarises recent evidence on the behavioural heterogeneity of autism in the following syndromes: Fragile X, Cornelia de Lange, Williams, Prader-Willi, Angelman, Down, Smith-Magenis, and tuberous sclerosis complex. Key considerations for assessment and support are discussed. Recent Findings The profile and developmental trajectory of autism-related behaviour in these syndromes indicate some degree of syndrome specificity which may interact with broader behavioural phenotypes (e.g. hypersociability), intellectual disability, and mental health (e.g. anxiety). Genetic subtype and co-occurring epilepsy within syndromes contribute to increased significance of autism characteristics. Autism-related strengths and challenges are likely to be overlooked or misunderstood using existing screening/diagnostic tools and criteria, which lack sensitivity and specificity within these populations. Summary Autism characteristics are highly heterogeneous across genetic syndromes and often distinguishable from non-syndromic autism. Autism diagnostic assessment practices in this population should be tailored to specific syndromes. Service provisions must begin to prioritise needs-led support.

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Autism needs to be considered in children with Down Syndrome

Cited by 10 publications

References 27 publications

Annual Research Review: Looking back to look forward – changes in the concept of autism and implications for future research

Annual Research Review: Looking back to look forward – changes in the concept of autism and implications for future research

Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers

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

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