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

Debra B Reinhartsen,Angelia B Waitt,Rebecca Edmondson Pretzel,Margaret Deramus,Marsha L Davenport,Rebecca C Knickmeyer,Stephen R Hooper,John H Gilmore,Emil Cornea

doi:10.1186/s11689-021-09401-1

Debra B Reinhartsen, Angelia B Waitt + Show 7 more

Open Access

https://doi.org/10.1186/s11689-021-09401-1

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Abstract

BackgroundTurner 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.MethodThis 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.ResultsAlthough 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.ConclusionsAlthough 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.

Highlights

Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births
Social and symbolic communication skills were in the average range, with both showing significant improvement from 12 to 24 months based on clinical assessment
Comparison to core and social language normative data at 12 months of age Preschool Language Scale‐4 As seen in Table 1, the infant girls with TS who were tested at age 12 months (n = 26) scored in the average range in the area of core language as measured by the mean Total Language Score

Summary

Introduction

Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births. Researchers in a single center study conducted in the UK [2] found that the mean age of diagnosis was 5.89 (± 5.3) years, ranging from prenatal to 17.9 years. Individuals with TS have been described as experiencing difficulties with oral reading fluency and executive language functions, such as strategic retrieval during oral narratives [8,9,10,11,12,13]. Detection of these features allows for more timely interventions and, the potential for improved quality of life

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