Neuropsychiatrische Manifestationen bei Tuberöser Sklerose (TSC): Diagnostische Leitlinien, TAND-Konzept und Therapie mit mTOR-Inhibitoren
Abstract
Zusammenfassung. Obwohl insgesamt selten („orphan disease“ mit einer Inzidenz von 1:6000), ist die Tuberöse Sklerose (TSC) eine der häufigsten monogenetisch bedingten Erkrankungen mit Bedeutung für die Kinder- und Jugendpsychiatrie. TSC führt bei bis zu 90 % der Betroffenen zu neurologischen Störungen wie Epilepsie und ebenfalls bei bis zu 90 % zu psychiatrischen Manifestationen wie Autismus-Spektrum-Störungen, Aufmerksamkeitsdefizit-/Hyperaktivitätsstörung, affektiven Störungen und Intelligenzminderung. In den letzten Jahren wurden sowohl zum Verständnis des molekularen Pathomechanismus der Erkrankung als auch zu Diagnostik und Behandlung erhebliche Fortschritte erzielt. Die vorliegende Übersichtsarbeit stellt diese aktuellen Entwicklungen dar. Im ersten Abschnitt zeigen wir den Bedarf an psychiatrischer Diagnostik und Begleitung von Patienten mit TSC auf und behandeln Herausforderungen und Schwierigkeiten in der interdisziplinären Zusammenarbeit zwischen Kinder- und Jugendpsychiatrie, Neuropädiatrie und anderen Berufsgruppen. Im zweiten Teil stellen wir das Konzept der TSC-assoziierten neuropsychiatrischen Störungen (TAND) vor, das von einer internationalen Expertengruppe entwickelt wurde, um Kliniker, Familien und Betroffene in der Diagnostik und Behandlung psychiatrischer Symptome und Störungen zu unterstützen, sowie ein neuartiges Screeninginstrument (TAND-Checkliste). Schließlich geben wir einen Überblick über kürzlich publizierte Studien bezüglich möglicher Krankheitsmodifikation der neuropsychiatrischen Manifestationen mittels mTOR-Inhibitoren. Die deutsche Übersetzung der TAND-Checkliste ist dem Artikel als elektronisches Supplement (ESM) beigefügt.
Abstract. Tuberous sclerosis complex (TSC), albeit a rare autosomal-dominant multisystem disease with an incidence of 1:6,000, is one of the most important monogenetic disorders in child and adolescent psychiatry. In up to 90 % of patients, neurological disorders such as epilepsy and psychiatric disorders such as autism spectrum disorder, ADHD, affective disorders, and intellectual disability are observed. In recent years, significant progress has been made in understanding the molecular mechanism as well as in the clinical diagnosis and treatment of the disease. Here, we review these recent developments. In the first part, we describe the need for psychiatric assessment and treatment of patients and analyse challenges in interdisciplinary work between child and adolescent psychiatry, child neurology, and other professional groups. In the second part, we introduce the concept of TSC-associated neuropsychiatric disorders (TAND), developed by the TSC Neuropsychiatry Panel as a guide to help clinical teams, families, and individuals with TSC via screening, assessment, and treatment of neuropsychiatric symptoms and disorders as well as with a novel screening instrument, the TAND Checklist. Finally, we report findings from recent clinical trials of mTOR-inhibitors to treat TAND. The paper includes the German translation of the TAND Checklist as an electronic supplement.
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