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  3. Autistic Spectrum Disorder
Medical and paramedical


Autistic Spectrum Disorder

With psychiatrist Dr. Laura Cretu, Dr. Hervé Walti, pediatrician at the Institut Jérôme Lejeune, describes in this video and in the accompanying data sheet the autism spectrum disorder present in many people with trisomy 21.


Discover the entire “Psychiatric Manifestations” chapter by clicking on “Chapter outline” to the right of the image at the top of the page.

Discover below the presentation associated with this video.

  • van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Mol Psychiatry. 2016 Jan;21(1):126-32.
  • Bourgeron T. Current knowledge on the genetics of autism and propositions for future research. C R Biol. 2016 Jul-Aug;339(7-8):300-7.
  • Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS; Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022 May 1;149(5):e2022057010.
  • Capone GT. Down syndrome and autistic spectrum disorder: a look what we know. Disabil Solut 2001;3(5–6):8–15.
  • Carter JC, Capone GT, Kaufmann WE. Neuroanatomic correlates of autism and stereotypy in children with Down syndrome. Neuroreport. 2008 Apr 16;19(6):653-6.
  • Chen P, Liu Z, Zhang Q, Lin D, Song L, Liu J, Jiao HF, Lai X, Zou S, Wang S, Zhou T, Li BM, Zhu L, Pan BX, Fei E. DSCAM Deficiency Leads to Premature Spine Maturation and Autism-like Behaviors. J Neurosci. 2022 Jan 26;42(4):532-551.
  • Council, Interagency Autism Coordinating. “IACC report to the congressional appropriations committee on the state of autism research.” Washington, DC: Department of Health and Human Services. http://iacc. hhs. gov/reports/2004/report-to-the-congres sional-appropriations-committee-april. shtml# research-matrix, 2004.
  • DiGuiseppi C, Hepburn S, Davis JM, Fidler DJ, Hartway S, Lee NR, Miller L, Ruttenber M, Robinson C. Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test characteristics. J Dev Behav Pediatr. 2010 Apr;31(3):181-91.
  • Ghaziuddin M. Autism in Down’s syndrome: a family history study. Journal of Intellectual Disability Research. 2020, 44: 562-566.
  • Gray L, Ansell P, Baird G, Parr JR. The continuing challenge of diagnosing autism spectrum disorder in children with Down syndrome. Child Care Health Dev. 2011 Jul;37(4):459-61.
  • Hauptman AJ, Cohen D, Dhossche D, Raffin M, Wachtel L, Ferrafiat V. Catatonia in neurodevelopmental disorders: assessing catatonic deterioration from baseline. Lancet Psychiatry. 2023 Mar;10(3):228-234.
  • Hepburn S, Fidler DJ. What autism looks like in a child with down syndrome. The behavioral phenotype. Editors When Down syndrome and autism intersect. A guide to DS-ASD for parents and professionals. USA: Woodbine House; 2013. p. 70–96.
  • Howlin P, Wing L, Gould J. The recognition of autism in children with Down syndrome–implications for intervention and some speculations about pathology. Dev Med Child Neurol. 1995 May;37(5):406-14.
  • Hyman SL, Levy SE, Myers SM, AAP Council On Children With Disabilities, Section On Developmental And Behavioral Pediatrics. Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics. 2020;145(1):e20193447.
  • Jenner L, Richards C, Howard R, Moss J. Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support. Curr Dev Disord Rep. 2023;10(2):132-146.
  • Krieger, A. E., Lancéart, E., Nader-Grosbois, N. Y Adrien, J. L. Trisomie 21 et autisme: double diagnostic, évaluation et intervention Down. Neuropsychiatrie de l’Enfance et de l’adolescence 2014, Volume 62, numéro 4 pages 235-243.
  • Maenner MJ, Warren Z, Williams AR, Amoakohene E, Bakian AV, Bilder DA, Durkin MS, Fitzgerald RT, Furnier SM, Hughes MM, Ladd-Acosta CM, McArthur D, Pas ET, Salinas A, Vehorn A, Williams S, Esler A, Grzybowski A, Hall-Lande J, Nguyen RHN, Pierce K, Zahorodny W, Hudson A, Hallas L, Mancilla KC, Patrick M, Shenouda J, Sidwell K, DiRienzo M, Gutierrez J, Spivey MH, Lopez M, Pettygrove S, Schwenk YD, Washington A, Shaw KA. Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020. MMWR Surveill Summ. 2023 Mar 24;72(2):1-14.
  • Magyar CI, Pandolfi V, Dill CA. An initial evaluation of the Social Communication Questionnaire for the assessment of autism spectrum disorders in children with Down syndrome. J Dev Behav Pediatr. 2012 Feb;33(2):134-45.
  • Marcelli D, Cohen D, Autisme infantile et troubles du spectre autistique. Ed. Daniel Marcelli, David Cohen, Enfance et Psychopathologie, dixième ed., Elsevier Masson, 2016, Pages 341-394.
  • Moss J, Howlin P. Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population. J Intellect Disabil Res. 2009 Oct;53(10):852-73.
  • Moss J, Richards C, Nelson L, Oliver C. Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome. Autism. 2013 Jul;17(4):390-404.
  • Oxelgren UW, Myrelid Å, Annerén G, Ekstam B, Göransson C, Holmbom A, Isaksson A, Åberg M, Gustafsson J, Fernell E. Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study. Dev Med Child Neurol. 2017 Mar;59(3):276-283.
  • Oxelgren UW, Åberg M, Myrelid Å, Annerén G, Westerlund J, Gustafsson J, Fernell E. Autism needs to be considered in children with Down Syndrome. Acta Paediatr. 2019 Nov;108(11):2019-2026.*
  • PNDS: Trisomie 21, HAS 2020. Téléchargeable sur www.has-sante.fr
  • PNDS: Syndrome DYRK1A, HAS 2021. Téléchargeable sur www.has-sante.fr
  • Rachubinski AL, Hepburn S, Elias ER, Gardiner K, Shaikh TH. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations? Prenat Diagn. 2017 Jan;37(1):31-36.
  • Recommandation de bonnes pratique: Trouble du spectre de l’autisme, HAS 2018. Téléchargeable sur www.has-sante.fr
  • Rasmussen P, Börjesson O, Wentz E, Gillberg C. Autistic disorders in Down syndrome: background factors and clinical correlates. Dev Med Child Neurol. 2001 Nov;43(11):750-4.
  • Richards C, Jones C, Groves L, Moss J, Oliver C. Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis. Lancet Psychiatry. 2015 Oct;2(10):909-16.
  • Santoro SL, Baumer NT, Cornacchia M, Franklin C, Hart SJ, Haugen K, Hojlo MA, Horick N, Kishnani PS, Krell K, McCormick A, Milliken AL, Oreskovic NM, Pawlowski KG, Sargado S, Torres A, Valentini D, Vellody K, Skotko BG. Unexplained regression in Down syndrome: Management of 51 patients in an international patient database. Am J Med Genet A. 2022 Oct;188(10):3049-3062.4.
  • SFARIgene https://gene.sfari.org/autdb/Welcome.do (accés Juillet 2023).
  • Skuse DH. Rethinking the nature of genetic vulnerability to autistic spectrum disorders. Trends Genet. 2007 Aug;23(8):387-95.
  • Spinazzi NA, Velasco AB, Wodecki DJ, Patel L. Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers. J Autism Dev Disord. 2023 Jan 9.
  • Spinazzi NA, Santoro JD, Pawlowski K, Anzueto G, Howe YJ, Patel LR, Baumer NT. Co-occurring conditions in children with Down syndrome and autism: a retrospective study. J Neurodev Disord. 2023 Mar 2;15(1):9.
  • Starr EM, Berument SK, Tomlins M, Papanikolaou K, Rutter M. Brief report: autism in individuals with Down syndrome. J Autism Dev Disord. 2005 Oct;35(5):665-73.
  • Versaci TM, Mattie LJ, Imming LJ. Down Syndrome and Autism Spectrum Disorder Dual Diagnosis: Important Considerations for Speech-Language Pathologists. Am J Speech Lang Pathol. 2021 Jan 27;30(1):34-46.
  • Wachtel LE. The multiple faces of catatonia in autism spectrum disorders: descriptive clinical experience of 22 patients over 12 years. Eur Child Adolesc Psychiatry. 2019 Apr;28(4):471-480.
  • Webb SJ, Jones EJ, Kelly J, Dawson G. The motivation for very early intervention for infants at high risk for autism spectrum disorders. Int J Speech Lang Pathol. 2014 Feb;16(1):36-42.

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