Ein Review und Leitfaden für die adäquate und interdisziplinäre (sozial-)medizinische Versorgung von Menschen mit einem Down-Syndrom und einer dementiellen Entwicklung

Zusammenfassung

Hintergrund

Die Alzheimer-Krankheit (AD) zählt zu den häufigsten neurodegenerativen Erkrankungen im Alter. Menschen mit Down-Syndrom (DS) haben aufgrund der Trisomie 21 und der Überexpression des Amyloid Precursor Protein ein deutlich erhöhtes Risiko für eine Demenz durch AD mit Prävalenzen von bis zu 88% jenseits des 65. Lebensjahres. Dennoch fehlen strukturierte Leitlinien zur Diagnostik und Therapie der Down-Syndrom-assoziierten Alzheimer-Demenz (DSAD).

Methoden

Es wurde eine narrative Übersicht der relevanten Literatur zu Ätiologie, Diagnostik, Therapie und Versorgung bei DSAD erstellt. Zudem erfolgte eine Evaluation bestehender Standards der allgemeinen Demenzdiagnostik bzgl. der Besonderheiten bei Menschen mit DS.

Ergebnisse

Etablierte diagnostische Verfahren sind auch bei Menschen mit DS anwendbar, müssen jedoch hinsichtlich Symptomwahrnehmung, Testdurchführung und Befundinterpretation angepasst werden. Die Sensibilisierung von Angehörigen und Versorgern sowie die frühzeitige Anbindung an spezialisierte Zentren sind entscheidend für eine zielgerichtete Diagnostik und Therapie.

Diskussion

Eine verbesserte Versorgung von Menschen mit DSAD erfordert eine enge Kooperation zwischen Regelversorgung und spezialisierten Einrichtungen. Dieses Review gibt einen Überblick über die medizinischen, diagnostischen und strukturellen Anforderungen bei Verdacht auf DSAD und leitet praxisnahe Handlungsempfehlungen für die Versorgung ab. Der abschließende Leitfaden soll somit helfen, bestehende Unsicherheiten in der Praxis zu reduzieren und eine langfristige, bedarfsgerechte Versorgung sicherzustellen.

Abstract

Background

Alzheimer’s disease (AD) is one of the most common neurodegenerative disorders in older age. Individuals with Down syndrome (DS) are at significantly increased risk due to trisomy 21 and the resulting overexpression of the amyloid precursor protein. Prevalence rates of AD-related dementia in DS (DSAD) reach up to 88% beyond the age of 65. Despite this, structured diagnostic and therapeutic guidelines for DSAD are lacking.

Methods

A narrative review of current literature on etiology, diagnosis, treatment, and care pathways for DSAD was conducted. Currently employed dementia diagnostic standards were evaluated in regard to the specific needs of individuals with DS.

Results

Established diagnostic methods are applicable to individuals with DS but require adaptations regarding symptom recognition, test administration, and interpretation. Early awareness among caregivers and healthcare providers, as well as timely referral to specialized centers, is essential for accurate diagnosis and treatment planning.

Conclusions

Improving care for individuals with DSAD requires close coordination between general healthcare services and specialized centers. This review highlights the medical, diagnostic, and structural challenges in suspected DSAD and provides practical recommendations for patient care. The proposed guideline aims to reduce uncertainties in clinical practice and support sustainable, needs-based care.

Schlüsselwörter

Down-Syndrom - Alzheimer - Patientenversorgung - Versorgungsforschung

Keywords

Down syndrome - Alzheimer's - Health Services Research - Patient Care Management

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