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

Publikationsverlauf

Eingereicht: 27. Juli 2021

Angenommen: 11. Januar 2022

Artikel online veröffentlicht:
11. April 2022

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