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Shared Environment–Different Genes: Speech-Language Development in a Pair of Dizygotic Twins with and Without MECP2 Mutation

Sigrun Lang, Peter B. Marschik*, Zuzanna Laudańska, Bernd Wilken, Christian P. Schaaf, Alisa Hahn, Tomas Kulvicius, Jeff Sigafoos, Sven Bölte, Luise Poustka, Jeffrey L. Neul, Dajie Zhang

*Korrespondierende/r Autor/-in für diese Arbeit

Abstract

This retrospective study compared the speech-language development of a pair of dizygotic twin girls during the first 2 years of life: one with typical development (Twin A) and one with atypical development (Twin B), who was later diagnosed with Rett syndrome (RTT). Audio snippets were extracted from home videos, with nearly equal representation from each child. The audio analysis focused on articulatory complexity, voice characteristics, and linguistic variability. Despite sharing the same social-communicative environment, the twins’ speech-language development diverged. From the first to second year of life, articulatory complexity and variability increased in the typically developing Twin A. In contrast, Twin B produced a high number of vocalizations in the 7th month, including canonical sounds with substantial variability. However, her vocalization quantity, complexity, and variability subsequently decreased, resulting in only sporadically discernable canonical vocalizations during her second year. This developmental trajectory points to very early stagnation and regression in Twin B, occurring earlier than typically observed. While Twin B displayed a range of typical vocalization features, deviations in the density and distribution of inspiratory and high-pitched vocalizations during the first year further suggest early speech-language abnormalities in RTT, preceding frank developmental stagnation and regression. As the study relied on limited retrospective data, the findings should be interpreted with caution, and further investigation is needed. Nevertheless, this twin study provides a unique perspective that deepens our understanding of early speech-language developmental profiles in RTT, especially in light of the intertwinement of genetic, individual, and contextual factors.

OriginalspracheEnglisch
ZeitschriftJournal of Genetic Psychology
Jahrgang186
Ausgabenummer6
Seiten (von - bis)452-467
Seitenumfang16
ISSN0022-1325
DOIs
PublikationsstatusVeröffentlicht - 2025

Fördermittel

Rett Deutschland e.V.; Volkswagenstiftung (IDENTIFIED), European Commission - COST Action 22111 (ENVIRO-DEV), German Center for Child and Adolescent Health (DZKJ) and German Center for Mental Health (DZPG). Dedicated to Christa Einspieler, a very close friend and mentor, who was–together with Alison Kerr and Heinz Prechtl ‑ among the first to study neurofunctional pre‑diagnostic development in RTT. We wish to thank our participants and their parents for their cooperation and sharing their personal data with us. We also like to thank the members of the Systemic Ethology and Developmental Science Team (SEE), especially Sila Akalin and Sarah Flügge for their support with data preprocessing.

TrägerTrägernummer
IDENTIFIED
European Commission
Volkswagen Foundation
Systemic Ethology and Developmental Science Team
European Cooperation in Science and Technology
German Center for Mental Health (DZPG)
Schön Klinik Starnberger See
German Centre for Mental Health (DZPG)

    UN SDGs

    Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

    1. SDG 3 – Gesundheit und Wohlergehen
      SDG 3 – Gesundheit und Wohlergehen

    Strategische Forschungsbereiche und Zentren

    • Querschnittsbereich: Gesundheitswissenschaften: Logopädie, Ergotherapie, Physiotherapie und Hebammenwissenschaft

    DFG-Fachsystematik

    • 2.22-29 Hals-Nasen-Ohrenheilkunde, Phoniatrie und Audiologie

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