Turner syndrome: language profile of young girls at 12 and 24 months of age

Abstract Background Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births. Available evidence suggests that, in the school-age years, girls with TS often require speech and language services; howeve...

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Autores principales:	Debra B. Reinhartsen, Emil Cornea, Margaret DeRamus, Angelia B. Waitt, Rebecca Edmondson Pretzel, Rebecca C. Knickmeyer, Marsha L. Davenport, John H. Gilmore, Stephen R. Hooper
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Receptive language Expressive language Turner syndrome Infants Toddlers Neurodevelopmental disorders Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/bbc480ee81cf48bf90e1101815e62b83
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spelling	oai:doaj.org-article:bbc480ee81cf48bf90e1101815e62b832021-11-07T12:04:30ZTurner syndrome: language profile of young girls at 12 and 24 months of age10.1186/s11689-021-09401-11866-19471866-1955https://doaj.org/article/bbc480ee81cf48bf90e1101815e62b832021-11-01T00:00:00Zhttps://doi.org/10.1186/s11689-021-09401-1https://doaj.org/toc/1866-1947https://doaj.org/toc/1866-1955Abstract Background Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births. Available evidence suggests that, in the school-age years, girls with TS often require speech and language services; however, little is known about the language development of infants and toddlers. Method This study (N = 31) explored the language profiles of 12- and 24-month-old girls with TS, as well as the percentage of girls who might be “at risk” for language delays. We also followed a subset of 12-month-old girls with TS to 24 months of age to determine the stability of the 12-month findings. Results Although all mean scores were within the average range at both time points, results revealed a higher prevalence of 24-month-old girls with TS “at risk” for receptive language difficulties. In addition, expressive language skills significantly exceeded receptive language skills at both time points. We found 12-month-old girls to be “at risk” for social and symbolic difficulties based on clinical assessment; only symbolic difficulties were significant based on caregiver report. At 24 months, clinical assessment indicated greater use of speech sounds and words than normative expectations. Caregivers reported greater use of speech sounds, and also, greater use of gestures. Although some changes occurred over a 1-year time span (12 to 24 months), all mean test scores remained within the average range and the changes in the percentage of girls manifesting “at risk” status on either the PLS-4 or CSBS-DP were non-significant. Conclusions Although within normal limits, receptive language skills were found to be significantly lower than expressive language skills at both ages. Social and symbolic communication skills also were in the average range, with both showing significant improvement from 12 to 24 months based on clinical assessment. Caregiver report found that use of gestures and production of speech sounds not only improved from 12 to 24 months, but also exceeded normative expectations. Findings suggest the presence of relatively intact speech and language abilities during the first 2 years of life, with perhaps some emergent concerns for receptive language development. Ongoing developmental surveillance will be important.Debra B. ReinhartsenEmil CorneaMargaret DeRamusAngelia B. WaittRebecca Edmondson PretzelRebecca C. KnickmeyerMarsha L. DavenportJohn H. GilmoreStephen R. HooperBMCarticleReceptive languageExpressive languageTurner syndromeInfantsToddlersNeurodevelopmental disordersNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENJournal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Receptive language Expressive language Turner syndrome Infants Toddlers Neurodevelopmental disorders Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	Receptive language Expressive language Turner syndrome Infants Toddlers Neurodevelopmental disorders Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Debra B. Reinhartsen Emil Cornea Margaret DeRamus Angelia B. Waitt Rebecca Edmondson Pretzel Rebecca C. Knickmeyer Marsha L. Davenport John H. Gilmore Stephen R. Hooper Turner syndrome: language profile of young girls at 12 and 24 months of age
description	Abstract Background Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births. Available evidence suggests that, in the school-age years, girls with TS often require speech and language services; however, little is known about the language development of infants and toddlers. Method This study (N = 31) explored the language profiles of 12- and 24-month-old girls with TS, as well as the percentage of girls who might be “at risk” for language delays. We also followed a subset of 12-month-old girls with TS to 24 months of age to determine the stability of the 12-month findings. Results Although all mean scores were within the average range at both time points, results revealed a higher prevalence of 24-month-old girls with TS “at risk” for receptive language difficulties. In addition, expressive language skills significantly exceeded receptive language skills at both time points. We found 12-month-old girls to be “at risk” for social and symbolic difficulties based on clinical assessment; only symbolic difficulties were significant based on caregiver report. At 24 months, clinical assessment indicated greater use of speech sounds and words than normative expectations. Caregivers reported greater use of speech sounds, and also, greater use of gestures. Although some changes occurred over a 1-year time span (12 to 24 months), all mean test scores remained within the average range and the changes in the percentage of girls manifesting “at risk” status on either the PLS-4 or CSBS-DP were non-significant. Conclusions Although within normal limits, receptive language skills were found to be significantly lower than expressive language skills at both ages. Social and symbolic communication skills also were in the average range, with both showing significant improvement from 12 to 24 months based on clinical assessment. Caregiver report found that use of gestures and production of speech sounds not only improved from 12 to 24 months, but also exceeded normative expectations. Findings suggest the presence of relatively intact speech and language abilities during the first 2 years of life, with perhaps some emergent concerns for receptive language development. Ongoing developmental surveillance will be important.
format	article
author	Debra B. Reinhartsen Emil Cornea Margaret DeRamus Angelia B. Waitt Rebecca Edmondson Pretzel Rebecca C. Knickmeyer Marsha L. Davenport John H. Gilmore Stephen R. Hooper
author_facet	Debra B. Reinhartsen Emil Cornea Margaret DeRamus Angelia B. Waitt Rebecca Edmondson Pretzel Rebecca C. Knickmeyer Marsha L. Davenport John H. Gilmore Stephen R. Hooper
author_sort	Debra B. Reinhartsen
title	Turner syndrome: language profile of young girls at 12 and 24 months of age
title_short	Turner syndrome: language profile of young girls at 12 and 24 months of age
title_full	Turner syndrome: language profile of young girls at 12 and 24 months of age
title_fullStr	Turner syndrome: language profile of young girls at 12 and 24 months of age
title_full_unstemmed	Turner syndrome: language profile of young girls at 12 and 24 months of age
title_sort	turner syndrome: language profile of young girls at 12 and 24 months of age
publisher	BMC
publishDate	2021
url	https://doaj.org/article/bbc480ee81cf48bf90e1101815e62b83
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Turner syndrome: language profile of young girls at 12 and 24 months of age

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