Purpose The primary aims of this study were to examine the speech-language correlates of decoding difficulties in children with histories of suspected childhood apraxia of speech (sCAS) and to identify predictors of low-proficiency reading levels. Method Participants were school-age children and adolescents, 7–18 years of age, diagnosed with sCAS ( n = 40) or speech sound disorder but no sCAS (SSD-no sCAS; n = 119). The sCAS and SSD-no sCAS reading groups were compared on measures of performance IQ, oral language, phonological awareness, rapid automatic naming, diadochokinetic rates, single word articulation, and multisyllable and nonsense word repetition. Logistic regression analyses were employed to identify predictors of low-proficiency reading in the sCAS and SSD-no sCAS groups. Results Sixty-five percent of the participants with sCAS compared to 24% of those with SSD-no sCAS were classified as low-proficiency readers based on nonsense and single word decoding. Analysis failed to reveal significant differences in reading, oral language, or phonological awareness between low-proficiency readers with sCAS and low-proficiency readers with SSD-no sCAS. Oral language and phonological awareness skills were the best predictors of reading level for all participants, followed by performance on multisyllabic word repetition and diadochokinetic rate. Conclusions The language and phonological awareness deficits of children with sCAS are related to their risks for reading failure. To a lesser degree, motor speech deficits and speech sound production also increase risks for reading difficulties. The findings justify early intervention for this subset of children.
Background Childhood apraxia of speech (CAS) is a neurodevelopmental disorder with heterogeneous communication and other comorbid manifestations. While previous studies have characterized speech deficits associated with CAS, few studies have examined variability in reading and language and/or other developmental comorbidities. We sought to identify comorbid subgroups within CAS that could be clinically relevant as well as genetically distinctive. Methods In a group of 31 children with CAS and 8 controls, we performed hierarchical cluster analysis utilizing measures of articulation, vocabulary, and reading. We also conducted a chart review of the children with CAS to examine other clinical characteristics in these children and their association with subgroup membership. Results We identified 3 comorbid subgroups within CAS of varying severity. The high severity subgroup was characterized by poor reading and vocabulary, and the moderate severity subgroup by poor reading and non-word repetition but average vocabulary, compared to the mild severity subgroup. Subgroups were indistinguishable with respect to speech sound production, the hallmark of CAS, all demonstrating poor articulation. Children in the most severe subgroup were more likely to have early problems feeding (p = 0.036). Conclusions Children with CAS may potentially be classified into comorbidity groups based on performance on vocabulary and reading measures, providing additional insight into the heterogeneity within CAS with implications for educational interventions.
Purpose: The primary aim of this study was to compare decoding and literacy-related skills of children with suspected childhood apraxia of speech (sCAS) to children with reading disorders (RD) and no history of speech sound disorder (RD-no SSD) to determine if the groups differ in decoding and the endophenotypes that contribute to RD. We also explored the association between language impairment (LI) and decoding and literacy-related skills within the participant group with sCAS. Method: Participants were school-age children and adolescents, 8–14 years of age, with a diagnosis of sCAS ( n = 13) or RD-no SSD ( n = 16). The sCAS and RD-no SSD groups were compared on measures of single-word decoding, oral language, motor-speech skills, phonological processing, and speech-in-noise perception, employing t tests and analysis of covariance. The sCAS + LI and sCAS-only groups were compared on similar measures using t tests. Results: Compared to the RD-no SSD group, the sCAS group performed significantly worse on measures of phonological processing, multisyllable word repetition, diadochokinetic rate, and speech-in-noise perception. The groups did not differ on measures of single-word decoding, with mean scores for both groups falling below average. All participants with sCAS + LI demonstrated deficits in literacy and literacy-related skills compared to a smaller percentage of the sCAS-only group. Conclusions: Children with sCAS and children with RD-no SSD demonstrate similar impairments in literacy. However, the endophenotypes underlying these difficulties can differ between the groups. Deficits in skills needed for literacy may require specifically tailored interventions to address reading difficulties for children with sCAS, especially for those with comorbid LI.
The process of identifying suitable genome-wide association (GWA) studies and formatting the data to calculate multiple polygenic risk scores on a single genome can be laborious. Here, we present a centralized polygenic risk score calculator currently containing over 250,000 genetic variant associations from the NHGRI-EBI GWAS Catalog for users to easily calculate sample-specific polygenic risk scores with comparable results to other available tools. Polygenic risk scores are calculated either online through the Polygenic Risk Score Knowledge Base (PRSKB; https://prs.byu.edu) or via a command-line interface. We report study-specific polygenic risk scores across the UK Biobank, 1000 Genomes, and the Alzheimer’s Disease Neuroimaging Initiative (ADNI), contextualize computed scores, and identify potentially confounding genetic risk factors in ADNI. We introduce a streamlined analysis tool and web interface to calculate and contextualize polygenic risk scores across various studies, which we anticipate will facilitate a wider adaptation of polygenic risk scores in future disease research.
Purpose Adolescent psychosocial outcomes of individuals with histories of childhood apraxia of speech (CAS) were compared to outcomes of individuals with histories of speech sound disorders (SSD) only and SSD with language impairment (LI). It was hypothesized that individuals with more severe and persistent disorders such as CAS would report poorer psychosocial outcomes. Method Groups were compared using analyses of variance on a psychosocial assessment battery that included measures of hyperactivity and inattention, anxiety, depression, internalizing and externalizing behaviors, thought problems, and social outcomes. Results Results revealed significant group differences on self-report of social problems and parent report of hyperactivity, thought problems, and social problems at adolescence. Compared to the SSD-only group, the CAS group had significantly higher parental ratings of hyperactivity and social problems in adolescence. The CAS and SSD + LI groups did not differ on psychosocial measures, possibly due to the high rate of comorbid LI in the CAS group. The CAS group also had more individuals who scored in the borderline/clinical range on self-report of social problems than the SSD-only group. The CAS group did not differ from the SSD + LI group in the number of participants scoring in the borderline/clinical range on measures. Conclusions Individuals with histories of CAS demonstrate increased rates of social problems and hyperactivity based on parent ratings compared to adolescents with histories of SSD only; however, most do not score within the clinical range. The persistence of speech sound errors combined with self-reported and parent-reported social difficulties suggests that speech-language pathologists should be sensitive to the social and emotional impact of CAS and make appropriate referrals to mental health professionals when warranted.
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