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Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder

Objective: Developmental language delay (DLD) is one of the most common disabilities in childhood and can negatively affect a child's communication skills and academic and/or psychosocial development. To date, an increasing number of causative genes have been identified by diagnostic techniques...

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Autores principales: Plug, Marielle B., van Wijngaarden, Vivian, de Wilde, Hester, van Binsbergen, Ellen, Stegeman, Inge, van den Boogaard, Marie-José H., Smit, Adriana L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8282268/
https://www.ncbi.nlm.nih.gov/pubmed/34277514
http://dx.doi.org/10.3389/fped.2021.651995
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author Plug, Marielle B.
van Wijngaarden, Vivian
de Wilde, Hester
van Binsbergen, Ellen
Stegeman, Inge
van den Boogaard, Marie-José H.
Smit, Adriana L.
author_facet Plug, Marielle B.
van Wijngaarden, Vivian
de Wilde, Hester
van Binsbergen, Ellen
Stegeman, Inge
van den Boogaard, Marie-José H.
Smit, Adriana L.
author_sort Plug, Marielle B.
collection PubMed
description Objective: Developmental language delay (DLD) is one of the most common disabilities in childhood and can negatively affect a child's communication skills and academic and/or psychosocial development. To date, an increasing number of causative genes have been identified by diagnostic techniques like next generation sequencing. An early genetic diagnosis is important to properly prepare and counsel children and parents for possible future difficulties. Despite this, genetic assessment is usually not part of a standardized diagnostic set in children with developmental language delay. In this study, we aim to assess the diagnostic outcomes of children primarily assessed for speech and language delay who were subsequently referred for genetic etiological assessment. Methods: Medical records of children referred to the department of Otorhinolaryngology of the Wilhelmina Children's Hospital for diagnostic work-up for a suspected speech and language delay between June 2011 and December 2018 who were additionally referred to a geneticist were evaluated. Study parameters concerning medical history, behavioral problems, language development, intelligence, and hearing were recorded. Outcomes of genetic analysis were evaluated. Results: A total of 127 patients were diagnosed with a developmental language delay. Genetic analysis was conducted in 119 out of 127 patients with a language delay and eligible for this study. The median time between initial speech and language assessment and the first genetic consultation was 10 months (IQR 5.0–23.0). In 34 out of 127 patients a causative genetic diagnosis was found to explain their DLD. Conclusion: In approximately a quarter of the patients (26.8%) diagnosed with developmental language delay, a causative genetic diagnosis was confirmed. This demonstrates the opportunity to identify an underlying genetic etiology in children with developmental language delay. However, in order to optimize the diagnostic process and clinical care for these children, two important research gaps need to be addressed. First, research should focus on assessing the clinical impact and effect on treatment outcomes of a genetic diagnosis. Secondly, it is important to recognize for which children genetic testing is most beneficial.
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spelling pubmed-82822682021-07-16 Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder Plug, Marielle B. van Wijngaarden, Vivian de Wilde, Hester van Binsbergen, Ellen Stegeman, Inge van den Boogaard, Marie-José H. Smit, Adriana L. Front Pediatr Pediatrics Objective: Developmental language delay (DLD) is one of the most common disabilities in childhood and can negatively affect a child's communication skills and academic and/or psychosocial development. To date, an increasing number of causative genes have been identified by diagnostic techniques like next generation sequencing. An early genetic diagnosis is important to properly prepare and counsel children and parents for possible future difficulties. Despite this, genetic assessment is usually not part of a standardized diagnostic set in children with developmental language delay. In this study, we aim to assess the diagnostic outcomes of children primarily assessed for speech and language delay who were subsequently referred for genetic etiological assessment. Methods: Medical records of children referred to the department of Otorhinolaryngology of the Wilhelmina Children's Hospital for diagnostic work-up for a suspected speech and language delay between June 2011 and December 2018 who were additionally referred to a geneticist were evaluated. Study parameters concerning medical history, behavioral problems, language development, intelligence, and hearing were recorded. Outcomes of genetic analysis were evaluated. Results: A total of 127 patients were diagnosed with a developmental language delay. Genetic analysis was conducted in 119 out of 127 patients with a language delay and eligible for this study. The median time between initial speech and language assessment and the first genetic consultation was 10 months (IQR 5.0–23.0). In 34 out of 127 patients a causative genetic diagnosis was found to explain their DLD. Conclusion: In approximately a quarter of the patients (26.8%) diagnosed with developmental language delay, a causative genetic diagnosis was confirmed. This demonstrates the opportunity to identify an underlying genetic etiology in children with developmental language delay. However, in order to optimize the diagnostic process and clinical care for these children, two important research gaps need to be addressed. First, research should focus on assessing the clinical impact and effect on treatment outcomes of a genetic diagnosis. Secondly, it is important to recognize for which children genetic testing is most beneficial. Frontiers Media S.A. 2021-07-01 /pmc/articles/PMC8282268/ /pubmed/34277514 http://dx.doi.org/10.3389/fped.2021.651995 Text en Copyright © 2021 Plug, van Wijngaarden, de Wilde, van Binsbergen, Stegeman, van den Boogaard and Smit. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Plug, Marielle B.
van Wijngaarden, Vivian
de Wilde, Hester
van Binsbergen, Ellen
Stegeman, Inge
van den Boogaard, Marie-José H.
Smit, Adriana L.
Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder
title Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder
title_full Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder
title_fullStr Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder
title_full_unstemmed Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder
title_short Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder
title_sort clinical characteristics and genetic etiology of children with developmental language disorder
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8282268/
https://www.ncbi.nlm.nih.gov/pubmed/34277514
http://dx.doi.org/10.3389/fped.2021.651995
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