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Association between genes regulating neural pathways for quantitative traits of speech and language disorders.

ABSTRACT: Speech sound disorders (SSD) manifest as difficulties in phonological memory and awareness, oral motor function, language, vocabulary, reading, and spelling. Families enriched for SSD are rare, and typically display a cluster of deficits. We conducted a genome-wide association study (GWAS) in 435 children from 148 families in the Cleveland Family Speech and Reading study (CFSRS), examining 16 variables representing 6 domains. Replication was conducted using the Avon Longitudinal Study of Parents and Children (ALSPAC). We identified 18 significant loci (combined p < 10^-8) that we pursued bioinformatically. We prioritized 5 novel gene regions with likely functional repercussions on neural pathways, including those which colocalized with differentially methylated regions in our sample. Polygenic risk scores for receptive language, expressive vocabulary, phonological awareness, phonological memory, spelling, and reading decoding associated with increasing clinical severity. In summary, neural-genetic influence on SSD is primarily multigenic and acts on genomic regulatory elements, similar to other neurodevelopmental disorders.

SUBMITTER: Benchek P

PROVIDER: S-EPMC8316336 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature

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Association between genes regulating neural pathways for quantitative traits of speech and language disorders.

Benchek Penelope P Igo Robert P RP Voss-Hoynes Heather H Wren Yvonne Y Miller Gabrielle G Truitt Barbara B Zhang Wen W Osterman Michael M Freebairn Lisa L Tag Jessica J Taylor H Gerry HG Chan E Ricky ER Roussos Panos P Lewis Barbara B Stein Catherine M CM Iyengar Sudha K SK

NPJ genomic medicine 20210727 1

Speech sound disorders (SSD) manifest as difficulties in phonological memory and awareness, oral motor function, language, vocabulary, reading, and spelling. Families enriched for SSD are rare, and typically display a cluster of deficits. We conducted a genome-wide association study (GWAS) in 435 children from 148 families in the Cleveland Family Speech and Reading study (CFSRS), examining 16 variables representing 6 domains. Replication was conducted using the Avon Longitudinal Study of Parents ...[more]

PMID: 34315907

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Project description:Language assessment has a crucial role in the clinical diagnosis of several neurodegenerative diseases. The analysis of extended speech production is a precious source of information encompassing the phonetic, phonological, lexico-semantic, morpho-syntactic, and pragmatic levels of language organization. The knowledge about the distinctive linguistic variables identifying language deficits associated to different neurodegenerative diseases has progressively improved in the last years. However, the heterogeneity of such variables and of the way they are measured and classified limits any generalization and makes the comparison among studies difficult. Here we present an exhaustive review of the studies focusing on the linguistic variables derived from the analysis of connected speech samples, with the aim of characterizing the language disorders of the most prevalent neurodegenerative diseases, including primary progressive aphasia, Alzheimer's disease, movement disorders, and amyotrophic lateral sclerosis. A total of 61 studies have been included, considering only those reporting group analysis and comparisons with a group of healthy persons. This review first analyzes the differences in the tasks used to elicit connected speech, namely picture description, story narration, and interview, considering the possible different contributions to the assessment of different linguistic domains. This is followed by an analysis of the terminologies and of the methods of measurements of the variables, indicating the need for harmonization and standardization. The final section reviews the linguistic domains affected by each different neurodegenerative disease, indicating the variables most consistently impaired at each level and suggesting the key variables helping in the differential diagnosis among diseases. While a large amount of valuable information is already available, the review highlights the need of further work, including the development of automated methods, to take advantage of the richness of connected speech analysis for both research and clinical purposes.

Project description:BackgroundSpeech-language pathologists (SLPs) in non-English speaking countries face challenges when assessing children for speech sound disorders (SSD). Exploring their clinical challenges in service delivery-along with their problem-solving approaches-may contribute to the development of instruments for clinical use in such settings.AimThe study aimed to explore assessment methods used by Iranian SLPs to identify children with SSD.MethodsA cross-sectional survey took place with 113 SLPs working with children with SSD. The survey comprised 36 items grouped into four main themes-service delivery, types of assessments procedures, challenges of evaluating SSD, and ways of keeping up to date. Results were analysed based on participants' levels of education and experience.ResultsParticipants used Persian as the primary language in their work, and over 70% provided services in a private setting. Most participants reported having between 10-30% of clients with SSD in their caseload. Most (73.5%) SLPs involve parents in completing the history form. They favour informal traditional articulation tests, with approximately half the sample selecting this approach from the 14 options presented to them, especially those with bachelor's degrees and minimal experience. More experienced SLPs (62.7%) chose the Polysyllabic Words Test. Assessment, whether formal or informal, was found to be time-consuming by the majority of respondents (18.6% always, 42.5% often). Self-study (65.5%) and taking part in workshops/webinars/journal clubs (60.1%) were ways to keep their knowledge current.ConclusionOur findings are similar to other international survey results on SSD evaluation. Although many Iranian SLPs use informal traditional articulation tests, such assessments are limited in their analysis and the diagnostic information provided. The findings emphasise the need for clear phonological assessment guidelines, valid and reliable 'clinician friendly' instruments, equitable distribution of tools across the country, and suitable tools for bi/multilingual communities.

Project description:Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition. Speech-language pathologists (SLPs) play an important role in the evaluation and management of dysarthria and dysphagia. This review describes the standard clinical evaluation and treatment approaches by SLPs for addressing impaired speech and deglutition in specific hyperkinetic dysarthria populations.A literature review was conducted using the data sources of PubMed, Cochrane Library, and Google Scholar. Search terms included 1) hyperkinetic dysarthria, essential voice tremor, voice tremor, vocal tremor, spasmodic dysphonia, spastic dysphonia, oromandibular dystonia, Meige syndrome, orofacial, cervical dystonia, dystonia, dyskinesia, chorea, Huntington's Disease, myoclonus; and evaluation/treatment terms: 2) Speech-Language Pathology, Speech Pathology, Evaluation, Assessment, Dysphagia, Swallowing, Treatment, Management, and diagnosis.The standard SLP clinical speech and swallowing evaluation of chorea/Huntington's disease, myoclonus, focal and segmental dystonia, and essential vocal tremor typically includes 1) case history; 2) examination of the tone, symmetry, and sensorimotor function of the speech structures during non-speech, speech and swallowing relevant activities (i.e., cranial nerve assessment); 3) evaluation of speech characteristics; and 4) patient self-report of the impact of their disorder on activities of daily living. SLP management of individuals with hyperkinetic dysarthria includes behavioral and compensatory strategies for addressing compromised speech and intelligibility. Swallowing disorders are managed based on individual symptoms and the underlying pathophysiology determined during evaluation.SLPs play an important role in contributing to the differential diagnosis and management of impaired speech and deglutition associated with hyperkinetic disorders.

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Association between genes regulating neural pathways for quantitative traits of speech and language disorders.

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Association between genes regulating neural pathways for quantitative traits of speech and language disorders.

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