Regression bei jungen Erwachsenen mit einem Down-Syndrom: Eine Fallserie

Zusammenfassung

Hintergrund In Abgrenzung zur Depression und zur früh beginnenden Alzheimer-Demenz ist bei jungen Erwachsenen mit einem Down-Syndrom ein Regressions-Syndrom im Sinne eines plötzlich auftretenden, weitgehend irreversiblen Verlusts erlernter Fähigkeiten sowie Verhaltensänderungen beschrieben. Die vorliegende Fallserie verdeutlicht die heterogene Präsentation, die Herausforderungen im differentialdiagnostischen und therapeutischen Vorgehen sowie prognostische Konsequenzen des Syndroms.

Methodik Es erfolgte eine Evaluation anhand der CAMDEX-DS (Cambridge Examination for Mental Disorders of Older People with Down Syndrome and Others with Intellectual Disabilities) sowie des Diagnosekatalogs der DSMIG-USA (Down-Syndrome Medical Interest Group USA).

Ergebnisse Für alle drei Patienten ließ sich mittels DSMIG-USA-Kriterien und nach Ausschluss somatischer oder psychiatrischer Ursachen ein mindestens wahrscheinliches Regressions-Syndrom feststellen.

Diskussion Die ausführliche differentialdiagnostische Abklärung einer unklaren Regression bei jungen Menschen mit einem Down-Syndrom erlaubt bei entsprechender Verdachtsdiagnose eine rasche Einleitung therapeutischer und sozialmedizinischer Maßnahmen. Der Diagnosekatalog der DSMIG-USA erleichtert dabei die Einordnung der diffusen und vielseitigen Symptomatik.

Abstract

Background Regression in young adults with Down syndrome can present itself with an acute loss of acquired skills and change in behavior. The aim of our case series was to describe the heterogeneous clinical presentation of this syndrome as well as accompanying diagnostic and therapeutic challenges and consequences.

Methods All three patients were assessed with the CAMDEX-DS (Cambridge Examination for Mental Disorders of Older People with Down Syndrome and Others with Intellectual Disabilities) and the criteria published by the DSMIG-USA (Down-Syndrome Medical Interest Group USA).

Results After ruling out somatic or other psychiatric causes, the application of the DSMIG-USA criteria resulted in diagnosing at least a probable unexplained regression in all three patients.

Discussion The thorough diagnostic investigation of unexplained acute regression in young adults with Down syndrome allows for quick initiation of therapeutic and supportive measures. Using the DMSIG-USA criteria facilitates the assessment of the underlying diffuse and heterogenous pathology.

Schlüsselwörter

Regression - Down-Syndrom - Disintegratives Syndrom - Katatonie - Trisomie 21

Key words

regression - Down syndrome - disintegrative disorder - catatonia - Trisomy 21

Publication History

Received: 27 July 2021

Accepted: 11 January 2022

Article published online:
11 April 2022

• Literatur

• 1 https://touchdown21.info/de/seite/5-trisomie-21/article/251-zahlen-fakten.html
• 2 Real de Asua D, Quero M, Moldenhauer F. et al. Clinical profile and main comorbidities of Spanish adults with Down syndrome. Eur J Intern Med 2015; 26: 385-391 DOI: 10.1016/j.ejim.2015.05.003.
• 3 Santoro JD, Pagarkar D, Chu DT. et al. Neurologic complications of Down syndrome: a systematic review. J Neurol 2020; DOI: 10.1007/s00415-020-10179-w.
• 4 Startin CM, D’Souza H, Ball G. et al. Health comorbidities and cognitive abilities across the lifespan in Down syndrome. J Neurodev Disord 2020; 12 DOI: 10.1186/s11689-019-9306-9.
• 5 Worley G, Crissman BG, Cadogan E. et al. Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome. J Child Neurol 2015; 30: 1147-1152 DOI: 10.1177/0883073814554654.
• 6 Prasher V. Disintegrative syndrome in young adults. Ir J Psychol Med 2002; 19: 101-101
• 7 Devenny D, Matthews A. Regression: Atypical Loss of Attained Functioning in Children and Adolescents with Down Syndrome. In: International Review of Research in Developmental Disabilities. Elsevier; 2011: 233-264
• 8 Mircher C, Cieuta-Walti C, Marey I. et al. Acute Regression in Young People with Down Syndrome. Brain Sci 2017; 7: 57 DOI: 10.3390/brainsci7060057.
• 9 Down Syndrome Medical Interest Group USA: . https://www.dsmig-usa.org/
• 10 Stein DS, Munir KM, Karweck AJ. et al. Developmental Regression, Depression, and Psychosocial Stress in an Adolescent with Down Syndrome: J Dev Behav Pediatr 2013; 34: 216-218 DOI: 10.1097/DBP.0b013e31828b2b42.
• 11 Cardinale KM, Bocharnikov A, Hart SJ. et al. Immunotherapy in selected patients with Down syndrome disintegrative disorder. Dev Med Child Neurol 2019; 61: 847-851 DOI: 10.1111/dmcn.14127.
• 12 Hart SJ, Worley G, Kishnani PS. et al. Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder. Front Neurol 2021; 12 DOI: 10.3389/fneur.2021.621637.
• 13 Nübling G, Loosli SV, Wlasich E. et al. Eine deutsche Fassung der Cambridge Examination for Mental Disorders of Older People with Down’s Syndrome and Others with Intellectual Disabilities: Ein Diagnoseverfahren zur Erfassung von Demenz bei Menschen mit einem Down-Syndrom. Z Für Gerontol Geriatr 2020; 53: 546-551 DOI: 10.1007/s00391-019-01591-7.
• 14 Bush G, Fink M, Petrides G. et al. Catatonia. I. Rating scale and standardized examination. Acta Psychiatr Scand 1996; 93: 129-136 DOI: 10.1111/j.1600-0447.1996.tb09814.x.
• 15 Santoro S, Cannon S, Capone G. Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genet Med 2020; 767-776 DOI: 10.1038/s41436-019-0706-8.
• 16 Akahoshi K, Matsuda H, Funahashi M. et al. Acute neuropsychiatric disorders in adolescents and young adults with Down syndrome: Japanese case reports. Neuropsychiatr Dis Treat 2012; 339 DOI: 10.2147/NDT.S32767.
• 17 Tamasaki A, Saito Y, Ueda R. et al. Effects of donepezil and serotonin reuptake inhibitor on acute regression during adolescence in Down syndrome. Brain Dev 2016; 38: 113-117 DOI: 10.1016/j.braindev.2015.06.006.
• 18 Blumberg MJ, Vaccarino SR, McInerney SJ. Procognitive Effects of Antidepressants and Other Therapeutic Agents in Major Depressive Disorder: A Systematic Review. J Clin Psychiatry 2020; 81
• 19 Baldez DP, Biazus TB, Rabelo-da-Ponte FD. et al. The effect of antipsychotics on the cognitive performance of individuals with psychotic disorders: Network meta-analyses of randomized controlled trials. Neurosci Biobehav Rev 2021; 126: 265-275 DOI: 10.1016/j.neubiorev.2021.03.028.
• 20 Walpert M, Zaman S, Holland A. A Systematic Review of Unexplained Early Regression in Adolescents and Adults with Down Syndrome. Brain Sci 2021; 11: 1197 DOI: 10.3390/brainsci11091197.
• 21 Luchini F, Medda P, Mariani MG. et al. Electroconvulsive therapy in catatonic patients: Efficacy and predictors of response. World J Psychiatry 2015; 5: 182 DOI: 10.5498/wjp.v5.i2.182.
• 22 Miles JH, Takahashi N, Muckerman J. et al. Catatonia in Down syndrome: systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients. Neuropsychiatr Dis Treat 2019; Volume 15: 2723-2741 DOI: 10.2147/NDT.S210613.
• 23 Ghaziuddin N, Miles J, Nassiri A. Catatonia in Down syndrome; a treatable cause of regression. Neuropsychiatr Dis Treat 2015; 941 DOI: 10.2147/NDT.S77307.
• 24 Rosso M, Fremion E, Santoro SL. et al. Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. Pediatrics 2020; 145: e20192939 DOI: 10.1542/peds.2019-2939.