Zusammenfassung
Als spezifische Sprachentwicklungsstörung (SSES, Synonym: Umschriebene Sprachentwicklungsstörung,
USES) bezeichnet man eine primäre, isolierte Entwicklungsstörung der Sprache ohne
offensichtlich erkennbaren Grund, d. h. ohne dominierende Hörstörungen, globale Entwicklungsstörungen
oder andere komorbide Krankheiten. In Familienaggregations- und Zwillingsstudien konnte
eine hohe Erblichkeit dieser Beeinträchtigung nachgewiesen werden. Die meisten Stammbaumanalysen
zeigen kein „mendelndes” Vererbungsmuster und passen nicht zu einem einzelnen Gendefekt.
Über die letzten Jahre haben sich die Hinweise einer multifaktoriellen Ätiologie der
SSES verdichtet, bei der der Phänotyp wie bei vielen komplexen Merkmalen von mehreren
Genen beeinflusst wird, die untereinander und mit der Umwelt interagieren. In molekulargenetischen
Studien konnten bisher 4 Genorte für die SSES eingegrenzt werden (SLI1–SLI4). Als
erstes Gen mit Bezug zur SSES wurde CNTNAP2 auf Chromosom 7 identifiziert, das bei der neuronalen Entwicklung des menschlichen
Gehirns eine Rolle spielt. Polymorphismen in diesem Gen zeigten eine Assoziation mit
Einschränkungen beim „Wiederholen von Nichtwörtern” als Ausdruck des phonologischen
Kurzzeitgedächtnisses. In dem vorliegenden Schwerpunktartikel werden verschiedene
Studientypen zur SSES systematisch dargestellt und genetische Erkenntnisse, die eine
multifaktorielle Ätiologie belegen, erläutert.
Abstract
The term “specific language impairment” (SLI) is used for a primary, specific developmental
disorder of language without any obvious reason, e. g., hearing disorders or other
developmental delay. Family aggregation and twin studies have demonstrated that SLI
is a highly heritable disorder. Most pedigrees do not show Mendelian inheritance and
are not consistent with a single gene defect. Over the past years, evidence had been
gathered that the etiology of SLI is multifactorial and that the phenotype is influenced
by numerous of genes which interact both with one another and with the environment,
as it is the case with many other complex traits. Up to today, linkage analyses of
SLI have identified 4 gene regions (SLI1–SLI4). CNTNAP2 on chromosome 7 which plays a role in the neuronal development of the human cortex
was identified as the first gene with an association to SLI. Polymorphisms of this
gene showed significant associations with poor non-word repetition as a marker of
phonological short-term memory. In the present review, we describe different types
of methods and study designs to provide evidence for the genetic influence of specific
language impairment. Several reasons are discussed to show that SLI is not a distinct
disorder, but rather the extreme end of a normal distribution of language ability,
likely to be influenced by multiple genetic and environmental influences of small
effect.
Schlüsselwörter
Gene - genetische Faktoren - spezifische Sprachentwicklungsstörung (SSES) - Ätiologie
Key words
genes - genetic factors - specific language impairment (SLI) - etiology
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Korrespondenzadresse
Dr. med. J. Rosenfeld
Klinik für Audiologie und
Phoniatrie
Charité– Universitätsmedizin
Berlin
Augustenburger Platz 1
13353 Berlin
Email: jochen.rosenfeld@charite.de
