WHAT'S KNOWN ON THIS SUBJECT: Stuttering is extremely common, with 8.5% of children affected by age 3 years in a prospective community-ascertained cohort of Australian children. The natural history and comorbidities of early stuttering are uncertain at the population level.WHAT THIS STUDY ADDS: The cumulative incidence of stuttering was 11% by 4 years. Stuttering children were similar in temperament and social-emotional development but had better verbal and nonverbal skills than their peers. Recovery from stuttering was low; 6.3% 12 months after onset. abstract OBJECTIVES: To document the natural history of stuttering by age 4 years, including (1) cumulative incidence of onset, (2) 12-month recovery status, (3) predictors of stuttering onset and recovery, and (4) potential comorbidities. The study cohort was a prospective community-ascertained cohort (the Early Language in Victoria Study) from Melbourne, Australia, of 4-year-old children (n = 1619; recruited at age 8 months) and their mothers.
METHODS:Outcome was stuttering onset by age 4 years and recovery within 12 months of onset, defined using concurrent monthly parent and speech pathologist ratings. Potential predictors: child gender, birth weight, birth order, prematurity, and twinning; maternal mental health and education; socioeconomic status; and family history of stuttering. Potential comorbidities: preonset and concurrent temperament, language, nonverbal cognition, and health-related quality of life.RESULTS: By age 4 years, the cumulative incidence of stuttering onset was 11.2% (95% confidence interval [CI]: 9.7% to 12.8%). Higher maternal education (P = .004), male gender (P = .02), and twinning (P = .005) predicted stuttering onset. At outcome, stuttering children had stronger language (mean [SD]: 105.0 [13.0] vs 99.6 [14.6]; mean difference 5.5, 95% CI: 3.1 to 7.8; P , .001) and nonverbal cognition (mean [SD]: 106.5 [11.4] vs 103.9 [13.7], mean difference 2.6, 95% CI: 0.4 to 4.8; P = .02) and better health-related quality of life but were otherwise similar to their nonstuttering peers. Only 9 of 142 children (6.3%; 95% CI: 2.9% to 11.7%) recovered within 12 months of onset.
CONCLUSIONS:Although stuttering onset is common in preschoolers, adverse affects are not the norm in the first year after onset. Pediatrics 2013;132: [460][461][462][463][464][465][466][467]
Relatively little is known about the neurobiological basis of speech disorders although genetic determinants are increasingly recognized. The first gene for primary speech disorder was FOXP2, identified in a large, informative family with verbal and oral dyspraxia. Subsequently, many de novo and familial cases with a severe speech disorder associated with FOXP2 mutations have been reported. These mutations include sequencing alterations, translocations, uniparental disomy, and genomic copy number variants. We studied eight probands with speech disorder and their families. Family members were phenotyped using a comprehensive assessment of speech, oral motor function, language, literacy skills, and cognition. Coding regions of FOXP2 were screened to identify novel variants. Segregation of the variant was determined in the probands' families. Variants were identified in two probands. One child with severe motor speech disorder had a small de novo intragenic FOXP2 deletion. His phenotype included features of childhood apraxia of speech and dysarthria, oral motor dyspraxia, receptive and expressive language disorder, and literacy difficulties. The other variant was found in a family in two of three family members with stuttering, and also in the mother with oral motor impairment. This variant was considered a benign polymorphism as it was predicted to be non-pathogenic with in silico tools and found in database controls. This is the first report of a small intragenic deletion of FOXP2 that is likely to be the cause of severe motor speech disorder associated with language and literacy problems.
This trial confirmed the viability of the webcam Lidcombe Program intervention. It appears to be as efficacious and economically viable as the standard, clinic Lidcombe Program treatment.
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