Language phenotypes in children with sex chromosome trisomies

Abstract

Background Sex chromosome trisomies (47,XXX, 47,XXY and 47,XYY) are known to be a risk factor for language disorder, but it is hard to predict outcomes, because many cases are identified only when problems are found. Methods We recruited children aged 5-16 years with all three types of trisomy, and divided them into a High Bias group, identified in the course of investigations for neurodevelopmental problems, and a Low Bias group, identified via prenatal screening or other medical investigations. Children from a twin sample were used to compare pattern and severity of language problems: they were subdivided according to parental concerns about language/history of speech-language therapy into a No Concerns group (N = 118) and a Language Concerns group (N = 57). Children were assessed on a psychometric battery and a standardized parent checklist. After excluding children with intellectual disability, autism or hearing problems, the sample included 28 XXX, 18 XXY and 14 XYY Low Bias cases and 7 XXX, 13 XXY and 17 XYY High Bias cases. Results Variation within each trisomy group was substantial: within the Low Bias group, overall language scores were depressed relative to normative data, but around one third had no evidence of problems. There was no effect of trisomy type, and the test profile was similar to the Language Concerns comparison group. The rate of problems was much greater in the High Bias children with trisomies. Conclusions When advising parents after discovery of a trisomy, it is important to emphasise that, though there is an increased risk of language problems, there is a very wide range of outcomes. Severe language problems are more common in those identified via genetic testing for neurodevelopmental problems but these are not characteristic of children identified on prenatal screening.

Autism and social anxiety in children with sex chromosome trisomies: an observational study

“…OSF: STROBE checklist for “Autism and social anxiety in children with sex chromosome trisomies: an observational study”, https://doi.org/10.17605/OSF.IO/U2C7D ( Bishop, 2019)…”

Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences

“…SCAs display a phenotypic spectra and prognostic uncertainty. While many individuals present with a mild phenotype, others demonstrate variable clinical features, including physical, neurocognitive, psychological, behavioral, educational, and psychosocial symptoms (Bishop et al, 2018;Blumling et al, 2020;Bojesen & Gravholt, 2007;Janusz et al, 2020;Ross et al, 2012;Samango-Sprouse et al, 2019;Urbanus et al, 2020;Visootsak & Graham, 2006;Visootsak et al, 2007). Intelligence generally falls in the low-normal to normal range, although lower when compared to siblings or control groups (Boada et al, 2009;Gropman & Samango-Sprouse, 2013;Hong & Reiss, 2014).…”

Evaluating the Scope of Language Impairments in a Patient with Triple X Syndrome: A Brief Report

“…Even though females who receive their diagnosis of triple X syndrome prenatally (like our patient A) have a smaller risk of language disorders than those who receive their diagnosis postnatally [17,27] , our results from the standardized language tests as well as her brother's report indicate that patient A's language is severely impaired compared to her peers. These results are in line with recent studies, showing that also children with prenatally diagnosed sex chromosome trisomies often have lower language scores than their agematched controls, 17,28 which are noticeable from an early age. 14 Her performances on the clinical tests remain far below average, even though A was familiar with the experimenter, and experimenter familiarity usually yields higher scores as it increases patients' motivation and attention.…”

“…Of course, one of the limitations of this study is that it involves only one single case. Bishop and colleagues 17 suggest that two thirds of patients with triple X experience some form of developmental language disorder. It remains unclear whether all patients with triple X with language impairments are as compromised in their language at all levels as was the case with our patient.…”

“…16 A recent study documents that the majority of affected women experience marked general language problems, although there is substantial individual variation in the severity. 17 However, language acquisition is a multi-faceted process, comprising both production and perception of language, across different components of language: phonology (language sounds), mental lexicon (vocabulary), morpho-syntax (the rules of grammar) and pragmatics (the ways in which we use language in interactions). Hence, a relevant question to ask is whether the documented language problems in patients with triple X syndrome are only noticeable at the level of expressive vocabulary or pervade all levels of linguistic structure and processing.…”