The Jérôme Lejeune
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Specializing in trisomy 21 and other
intellectual disabilities of genetic origin
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The Jérôme Lejeune Institute

The Jérôme Lejeune Institute was founded in 1998. It is Europe’s leading center specializing in clinical care and research on trisomy 21 and other intellectual disabilities of genetic origin.
The Jérôme Lejeune Institute serves patients and their families by pursuing three missions:
Care, Research, Training.

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Discover all the latest content, useful information and specialist training courses

Obsessive-Compulsive Disorder (OCD) and Related Disorders
21 Dec 2023
Medical and paramedical
Obsessive-Compulsive Disorder (OCD) and Related Disorders
PSYCHIATRIC MANIFESTATIONS Obsessive-Compulsive Disorders (OCD) and Related Disorders CHAPTER OUTLINE 1- Behavorial Functioning 2- Autistic Spectrum Disorder 3- ADHD 4- Depression 5- Regression and Catatonia 6- Schizophrenia and Psychotic Disorders 7- OCD and Related Disorders With psychiatrist Dr. Laura Cretu, Dr. Hervé Walti, pediatrician at the Institut Jérôme Lejeune, talks about OCD and related disorders 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. https://youtu.be/K15bkLF67EM Dowload the summary sheet Discover below the presentation associated with this video.
See references American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Washington, DC: American Psychiatric Association; 2013.Charlot L, Fox S, Friedlander R. Obsessional slowness in Down's syndrome. J Intellect Disabil Res. 2002 Sep;46(Pt 6):517-24.Fletcher RJ, Barnhill J, Cooper S DM-ID-2 : Diagnostic manual, intellectual disability : a textbook of diagnosis of mental disorders in persons with intellectual disability. NADD Publication,  2016.Ganos C, Kassavetis P, Cerdan M, Erro R, Balint B, Price G, Edwards MJ, Bhatia KP. Revisiting the Syndrome of "Obsessional Slowness". Mov Disord Clin Pract. 2015 Mar 16;2(2):163-169.Glenn S. Repetitive Behaviours and Restricted Interests in Individuals with Down Syndrome-One Way of Managing Their World? Brain Sci. 2017 Jun 15;7(6):66.Hayes SL, Storch EA, Berlanga L. Skin picking behaviors: An examination of the prevalence and severity in a community sample. J Anxiety Disord. 2009 Apr;23(3):314-9.Myers BA, Pueschel SM. Psychiatric disorders in persons with Down syndrome. J Nerv Ment Dis. 1991 Oct;179(10):609-13.O'Dwyer J, Holmes J, Collacott RA. Two cases of obsessive-compulsive disorder in individuals with Down's syndrome. J Nerv Ment Dis. 1992 Sep;180(9):603-4.Pary R. J. Down syndrome update: obsessional slowness. Habilitative Mental Healthcare Newsletter, 1994, 13 ; 49-50.Prasher VP, Day S. Brief report: obsessive-compulsive disorder in adults with Down's Syndrome. J Autism Dev Disord. 1995 Aug;25(4):453-8.Prasher, V.P. Prevalence of psychiatric disorders in adults with Down syndrome. European Journal of Psychiatry, 1995 , 9, 77-82.Rachman S. Primary obsessional slowness. Behav Res Ther. 1974 Feb;12(1):9-18.Raitasuo S, Virtanen H, Raitasuo J. Anorexia nervosa, major depression, and obsessive-compulsive disorder in a Down's syndrome patient. Int J Eat Disord. 1998 Jan;23(1):107-9.Rivelli A, Fitzpatrick V, Chaudhari S, Chicoine L, Jia G, Rzhetsky A, Chicoine B. Prevalence of Mental Health Conditions Among 6078 Individuals With Down Syndrome in the United States. J Patient Cent Res Rev. 2022 Jan 17;9(1):58-63.Sutor B, Hansen MR, Black JL. Obsessive compulsive disorder treatment in patients with Down syndrome: a case series. Downs Syndr Res Pract. 2006 Jul;10(1):1-3.Swierkosz-Lenart K, Dos Santos JFA, Elowe J, Clair AH, Bally JF, Riquier F, Bloch J, Draganski B, Clerc MT, Pozuelo Moyano B, von Gunten A, Mallet L. Therapies for obsessive-compulsive disorder: Current state of the art and perspectives for approaching treatment-resistant patients. Front Psychiatry. 2023 Feb 16;14:1065812....
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Schizophrenia and Psychotic Disorders
21 Dec 2023
Medical and paramedical
Schizophrenia and Psychotic Disorders
PSYCHIATRIC MANIFESTATIONS  Schizophrenia and Psychotic Disorders CHAPTER OUTLINE 1- Behavorial Functioning 2- Autistic Spectrum  Disorder 3- ADHD 4- Depression 5- Regression and Catatonia 6- Schizophrenia and Psychotic Disorders 7- OCD and Related Disorders With psychiatrist Dr. Laura Cretu, Dr. Hervé Walti, a pediatrician at the Institut Jérôme Lejeune, talks about schizophrenia and psychotic disorders 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. https://youtu.be/97EGKAkvdjs Dowload the summary sheet Discover below the presentation associated with this video.
See references Alexander M, Petri H, Ding Y, Wandel C, Khwaja O, Foskett N. Morbidity and medication in a large population of individuals with Down syndrome compared to the general population. Dev Med Child Neurol. 2016 Mar;58(3):246-54.Duggirala, C., Cooper, S., & Collacott, R. Schizophrenia and Down's syndrome. Irish Journal of Psychological Medicine. 1995 12(1), 30-33.Dykens EM. Psychiatric and behavioral disorders in persons with Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):272-8.Dykens EM, Shah B, Davis B, Baker C, Fife T, Fitzpatrick J. Psychiatric disorders in adolescents and young adults with Down syndrome and other intellectual disabilities. J Neurodev Disord. 2015;7(1):9.Fletcher, R. Diagnostic Manual—Intellectual Disability. Kingston, New York: NADD Press, 2007.Glenn SM, Cunningham CC. Parents' reports of young people with Down syndrome talking out loud to themselves. Ment Retard. 2000 Dec;38(6):498-505.Mantry D, Cooper SA, Smiley E, Morrison J, Allan L, Williamson A, Finlayson J, Jackson A. The prevalence and incidence of mental ill-health in adults with Down syndrome. J Intellect Disabil Res. 2008 Feb;52(Pt 2):141-55.Myers BA, Pueschel SM. Psychiatric disorders in persons with Down syndrome. J Nerv Ment Dis. 1991 Oct;179(10):609-13.Pickard, M., Paschos, D. Pseudohallucinations in People With Intellectual Disabilities: Two Case Reports, Mental Health Aspects of Developmental Disabilities, 2005, 8, 1-3.Rivelli A, Fitzpatrick V, Chaudhari S, Chicoine L, Jia G, Rzhetsky A, Chicoine B. Prevalence of Mental Health Conditions Among 6078 Individuals With Down Syndrome in the United States. J Patient Cent Res Rev. 2022 Jan 17;9(1):58-63.Rollin HR. Personality in mongolism with special reference to the incidence of catatonic psychosis. Am J Ment Defic. 1946 Oct;51(2):219-37.Simashkova NV. [Psychotic forms of atypical autism in children]. Zh Nevrol Psikhiatr Im S S Korsakova. 2006;106(10):17-26. Russian.Startin CM, D'Souza H, Ball G, Hamburg S, Hithersay R, Hughes KMO, Massand E, Karmiloff-Smith A, Thomas MSC; LonDownS Consortium; Strydom A. Health comorbidities and cognitive abilities across the lifespan in Down syndrome. J Neurodev Disord. 2020 Jan 23;12(1):4.Thase ME. Basal ganglia calcification and psychosis in Down's syndrome. Postgrad Med J 1984;60: 137-9.Ursumando L, Fucà E, Costanzo F, Vicari S. Delusion of Pregnancy in Down Syndrome: Two Case Reports. Int J Environ Res Public Health. 2022 Oct 16;19(20):13339.Urv TK, Zigman WB, Silverman W. Psychiatric symptoms in adults with Down syndrome and Alzheimer's disease. Am J Intellect Dev Disabil. 2010 Jul;115(4):265-76....
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Regression and Catatonia
21 Dec 2023
Medical and paramedical
Regression and Catatonia
PSYCHIATRIC MANIFESTATIONS  Regression and Catatonia CHAPTER OUTLINE 1- Behavorial Functioning 2- Autistic Spectrum  Disorder 3- ADHD 4- Depression 5- Regression and Catatonia 6- Schizophrenia and Psychotic Disorders 7- OCD and Related Disorders 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. https://youtu.be/sLDknvmCT_A Download the summary sheet Discover below the presentation associated with this video.
See references American Psychiatric Association. Obsessive compulsive and related disorders. In Diagnostic and statistical manual of mental disorders (5th ed., 2013).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.Jacobs J, Schwartz A, McDougle CJ, Skotko BG. Rapid clinical deterioration in an individual with Down syndrome. Am J Med Genet A. 2016 Jul;170(7):1899-902.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.pdfPoumeaud 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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        Institut Jérôme Lejeune
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        Institut Jérôme Lejeune
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