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. 2024 Mar;54(3):1171-1180.
doi: 10.1007/s10803-022-05758-x. Epub 2023 Jan 9.

Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers

Noemi Alice Spinazzi  1 , Alyssa Bianca Velasco  2   3 , Drew James Wodecki  4 , Lina Patel  5
Affiliations

Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers

Noemi Alice Spinazzi et al. J Autism Dev Disord. 2024 Mar.

Abstract

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.

Keywords: Autism spectrum disorder; Down syndrome; Dual diagnosis; Family/caregiver experience.

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Conflict of interest statement

Authors have no financial relationships relevant to this article and no potential conflicts of interest to disclose. They received no external funding for this manuscript.

Figures

Fig. 1
Fig. 1
Age Gap vs. Age of Participant with Down syndrome – Autism Spectrum Disorder (DS-ASD) when surveyed
See this image and copyright information in PMC

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References

    1. Ashworth M, Palikara O, Van Herwegen J. Comparing parental stress of children with neurodevelopmental disorders: The case of Williams syndrome, down syndrome and autism spectrum disorders. Journal of Applied Research in Intellectual Disabilities. 2019;32(5):1047–1057. doi: 10.1111/jar.12594. - DOI - PubMed
    1. Baghdadli A, Picot MC, Pascal C, et al. Relationship between age of recognition of first disturbances and severity in young children with autism. European Child and Adolescent Psychiatry. 2003;12(3):122–127. doi: 10.1007/s00787-003-0314-6. - DOI - PubMed
    1. Capone GT, Grados MA, Kaufmann WE, et al. Down syndrome and comorbid autism-spectrum disorder: Characterization using the aberrant behavior checklist. American Journal of Medical Genetics. Part A. 2005;134(4):373–380. doi: 10.1002/ajmg.a.30622. - DOI - PubMed
    1. Carter JC, Capone GT, Gray RM, et al. Autistic-spectrum disorders in down syndrome: Further delineation and distinction from other behavioral abnormalities. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. 2007;144B(1):87–94. doi: 10.1002/ajmg.b.30407. - DOI - PubMed
    1. Castillo H, Patterson B, Hickey F, et al. Difference in age at regression in children with autism with and without down syndrome. Journal of Developmental & Behavioral Pediatrics. 2008;29(2):89–93. doi: 10.1097/DBP.0b013e318165c78d. - DOI - PubMed