Research in Speech Science and Voice Disorders: The Promise of Modern Genetic Approaches in Improving Clinical Diagnosis and Treatment

Kimball, Emily E.; Sayce, Lea

doi:10.1044/2020_persp-20-00111

Cited by 1 publication

(1 citation statement)

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“…The PRS for educational attainment significantly explained a small proportion of the variance of language and literacy at age 12, but its predictive ability was overall low and deemed not useful in the clinical setting [ 46 ]. In the neighboring field of speech and voice disorders, the use of genetic information in the clinical setting has also been advocated [ 47 ]. In addition to investigating the direct association between PRS for a relevant trait and developmental outcomes, clinical practice may also benefit, albeit not immediately, from studies into the genetic overlaps across language-related disorders and traits.…”

Section: Introductionmentioning

confidence: 99%

Pleiotropy between language impairment and broader behavioral disorders—an investigation of both common and rare genetic variants

Appadurai

Buil

Nordentoft

et al. 2021

J Neurodevelop Disord

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Background Language plays a major role in human behavior. For this reason, neurodevelopmental and psychiatric disorders in which linguistic ability is impaired could have a big impact on the individual’s social interaction and general wellbeing. Such disorders tend to have a strong genetic component, but most past studies examined mostly the linguistic overlaps across these disorders; investigations into their genetic overlaps are limited. The aim of this study was to assess the potential genetic overlap between language impairment and broader behavioral disorders employing methods capturing both common and rare genetic variants. Methods We employ polygenic risk scores (PRS) trained on specific language impairment (SLI) to evaluate genetic overlap across several disorders in a large case-cohort sample comprising ~13,000 autism spectrum disorder (ASD) cases, including cases of childhood autism and Asperger’s syndrome, ~15,000 attention deficit/hyperactivity disorder (ADHD) cases, ~3000 schizophrenia cases, and ~21,000 population controls. We also examine rare variants in SLI/language-related genes in a subset of the sample that was exome-sequenced using the SKAT-O method. Results We find that there is little evidence for genetic overlap between SLI and ADHD, schizophrenia, and ASD, the latter being in line with results of linguistic analyses in past studies. However, we observe a small, significant genetic overlap between SLI and childhood autism specifically, which we do not observe for SLI and Asperger’s syndrome. Moreover, we observe that childhood autism cases have significantly higher SLI-trained PRS compared to Asperger’s syndrome cases; these results correspond well to the linguistic profiles of both disorders. Our rare variant analyses provide suggestive evidence of association for specific genes with ASD, childhood autism, and schizophrenia. Conclusions Our study provides, for the first time, to our knowledge, genetic evidence for ASD subtypes based on risk variants for language impairment.

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Section: Introductionmentioning

confidence: 99%