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

Title:
Shared Environment - Different Genes: Speech-Language Development in a Pair of Dizygotic Twins with and Without MECP2 Mutation.
Authors:
Lang S; Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, German Center for Child and Adolescent Health (DZKJ) and Leibniz ScienceCampus Primate Cognition, Göttingen, Germany., Marschik PB; Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, German Center for Child and Adolescent Health (DZKJ) and Leibniz ScienceCampus Primate Cognition, Göttingen, Germany.; Department of Child and Adolescent Psychiatry, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.; Interdisciplinary Developmental Neuroscience (iDN), Division of Phoniatrics, Medical University of Graz, Graz, Austria.; Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Child and Adolescent Psychiatry, Region Stockholm, Karolinska Institutet & Stockholm Health Care Services, Stockholm, Sweden., Laudańska Z; Department of Child and Adolescent Psychiatry, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany., Wilken B; Department of Pediatric Neurology, Hospital Kassel, Kassel, Germany., Schaaf CP; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany., Hahn A; Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, German Center for Child and Adolescent Health (DZKJ) and Leibniz ScienceCampus Primate Cognition, Göttingen, Germany., Kulvicius T; Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, German Center for Child and Adolescent Health (DZKJ) and Leibniz ScienceCampus Primate Cognition, Göttingen, Germany.; Department of Child and Adolescent Psychiatry, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany., Sigafoos J; School of Education, Victoria University of Wellington, Wellington, New Zealand., Bölte S; Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Child and Adolescent Psychiatry, Region Stockholm, Karolinska Institutet & Stockholm Health Care Services, Stockholm, Sweden.; Curtin Autism Research Group, Curtin School of Allied Health, Curtin University, Perth, Washington, Australia., Poustka L; Department of Child and Adolescent Psychiatry, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany., Neul JL; Department of Pediatrics (Neurology), Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Zhang D; Department of Child and Adolescent Psychiatry, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.; Interdisciplinary Developmental Neuroscience (iDN), Division of Phoniatrics, Medical University of Graz, Graz, Austria.
Source:
The Journal of genetic psychology [J Genet Psychol] 2025 Nov-Dec; Vol. 186 (6), pp. 452-467. Date of Electronic Publication: 2025 Feb 19.
Publication Type:
Case Reports; Journal Article
Language:
English
Journal Info:
Publisher: Psychology Press Country of Publication: United States NLM ID: 2985112R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-0896 (Electronic) Linking ISSN: 00221325 NLM ISO Abbreviation: J Genet Psychol Subsets: MEDLINE
Imprint Name(s):
Publication: 2010- : Philadelphia : Psychology Press
Original Publication: Provincetown, Mass. : Journal Press
MeSH Terms:
Diseases in Twins*/genetics , Gene-Environment Interaction* , Language Development Disorders*/genetics , Methyl-CpG-Binding Protein 2*/genetics , Rett Syndrome*/genetics , Rett Syndrome*/physiopathology , Speech*/physiology , Twins, Dizygotic*/genetics, Child, Preschool ; Female ; Humans ; Infant ; Language Development ; Mutation ; Retrospective Studies
Contributed Indexing:
Keywords: Infancy; Rett syndrome; speech-language; twins; vocalizations
Substance Nomenclature:
0 (MECP2 protein, human)
0 (Methyl-CpG-Binding Protein 2)
Entry Date(s):
Date Created: 20250220 Date Completed: 20251107 Latest Revision: 20251201
Update Code:
20251201
DOI:
10.1080/00221325.2025.2465788
PMID:
39973088
Database:
MEDLINE

Weitere Informationen

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.