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  1. Home page
  2. Contents
  3. Regression and Catatonia
Medical and paramedical

PSYCHIATRIC MANIFESTATIONS

 

Regression and Catatonia

With psychiatrist Dr. Laura Cretu, Dr. Hervé Walti, pediatrician at the Institut Jérôme Lejeune, talks about the symptoms of regression and catatonia in people with Down’s syndrome in this video and accompanying fact sheet.

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.

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  • Benarous X, Consoli A, Raffin M, Bodeau N, Giannitelli M, Cohen D, Olliac B. Validation of the Pediatric Catatonia Rating Scale (PCRS). Schizophr Res. 2016 Oct;176(2-3):378-386.
  • Cardinale KM, Bocharnikov A, Hart SJ, Baker JA, Eckstein C, Jasien JM, Gallentine W, Worley G, Kishnani PS, Van Mater H. Immunotherapy in selected patients with Down syndrome disintegrative disorder. Dev Med Child Neurol. 2019 Jul;61(7):847-851.
  • Cohen D, Raffin M, Benarous X, Ferrafiat V., Consoli A. Syndrome catatonique de l’enfant et de l’adolescent : une pathologie rare fréquemment associée à une cause organique. Bull. Acad. Natle Méd., 2018, 202, nos 5-6, 1159-1178.
  • Ghaziuddin M. Catatonia: A Common Cause of Late Regression in Autism. Front Psychiatry. 2021 Oct 28;12:674009.
  • 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.
  • Huggard D, Doherty DG, Molloy EJ. Immune Dysregulation in Children With Down Syndrome. Front Pediatr. 2020 Feb 27;8:73.
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  • Jakubowicz B, Baptista A, Ravel A, Cieuta C, Mircher C, Cohen D, Consoli A, Raffin M. Catatonia in Down’s syndrome: An under-recognized syndrome during regression. Schizophr Res. 2023 Sep 14;261:107-109.
  • Malle L, Patel RS, Martin-Fernandez M, Stewart OJ, Philippot Q, Buta S, Richardson A, Barcessat V, Taft J, Bastard P, Samuels J, Mircher C, Rebillat AS, Maillebouis L, Vilaire-Meunier M, Tuballes K, Rosenberg BR, Trachtman R, Casanova JL, Notarangelo LD, Gnjatic S, Bush D, Bogunovic D. Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells. Nature. 2023 Mar;615(7951):305-314.
  • Mircher C, Cieuta-Walti C, Marey I, Rebillat AS, Cretu L, Milenko E, Conte M, Sturtz F, Rethore MO, Ravel A. Acute Regression in Young People with Down Syndrome. Brain Sci. 2017 May 27;7(6):57.
  • Protocole National de Diagnostic et de Soins (PNDS). Syndrome catatonique (2021): https://www.has-sante.fr/upload/docs/application/pdf/2021-10/2021_defiscience_pnds_syndrome_catatonique_texte_pnds.pdf
  • Poumeaud F, Mircher C, Smith PJ, Faye PA, Sturtz FG. Deciphering the links between psychological stress, depression, and neurocognitive decline in patients with Down syndrome. Neurobiol Stress. 2021 Feb 5;14:100305.
  • Prasher V. Disintegrative syndrome in young adults. Ir J Psychol Med. 2002 Sep;19(3):101.
  • Rosso M, Fremion E, Santoro SL, Oreskovic NM, Chitnis T, Skotko BG, Santoro JD. Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. Pediatrics. 2020 Jun;145(6):e20192939.
  • Santoro SL, Cannon S, Capone G, Franklin C, Hart SJ, Hobensack V, Kishnani PS, Macklin EA, Manickam K, McCormick A, Nash P, Oreskovic NM, Patsiogiannis V, Steingass K, Torres A, Valentini D, Vellody K, Skotko BG. Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genet Med. 2020 Apr;22(4):767-776.
  • Santoro JD, Partridge R, Tanna R, Pagarkar D, Khoshnood M, Rehmani M, Kammeyer RM, Gombolay GY, Fisher K, Conravey A, El-Dahr J, Christy AL, Patel L, Manning MA, Van Mater H, Rafii MS, Quinn EA. Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder. J Neurodev Disord. 2022a Jun 3;14(1):35.
  • Santoro JD, Patel L, Kammeyer R, Filipink RA, Gombolay GY, Cardinale KM, Real de Asua D, Zaman S, Santoro SL, Marzouk SM, Khoshnood M, Vogel BN, Tanna R, Pagarkar D, Dhanani S, Ortega MDC, Partridge R, Stanley MA, Sanders JS, Christy A, Sannar EM, Brown R, McCormick AA, Van Mater H, Franklin C, Worley G, Quinn EA, Capone GT, Chicoine B, Skotko BG, Rafii MS. Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus. Front Neurol. 2022b Jul 15;13:940175.
  • 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. 2022c Oct;188(10):3049-3062.
  • 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.
  • Stein DS, Munir KM, Karweck AJ, Davidson EJ, Stein MT. Developmental Regression, Depression, and Psychosocial Stress in an Adolescent with Down Syndrome. J Dev Behav Pediatr. 2017 Feb/Mar;38 Suppl 1(Suppl 1):S26-S28.
  • Worley G, Crissman BG, Cadogan E, Milleson C, Adkins DW, Kishnani PS. Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome. J Child Neurol. 2015 Aug;30(9):1147-52.

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