Narrative ability of children with speech sound disorders and the prediction of later literacy skills.

PURPOSE: The main purpose of this study was to examine how children with isolated speech sound disorders (SSDs; n = 20), children with combined SSDs and language impairment (LI; n = 20), and typically developing children (n = 20), ages 3;3 (years;months) to 6;6, differ in narrative ability. The second purpose was to determine if early narrative ability predicts school-age (8-12 years) literacy skills. METHOD: This study employed a longitudinal cohort design. The children completed a narrative retelling task before their formal literacy instruction began. The narratives were analyzed and compared for group differences. Performance on these early narratives was then used to predict the children's reading decoding, reading comprehension, and written language ability at school age. RESULTS: Significant group differences were found in children's (a) ability to answer questions about the story, (b) use of story grammars, and (c) number of correct and irrelevant utterances. Regression analysis demonstrated that measures of story structure and accuracy were the best predictors of the decoding of real words, reading comprehension, and written language. Measures of syntax and lexical diversity were the best predictors of the decoding of nonsense words. CONCLUSION: Combined SSDs and LI, and not isolated SSDs, impact a child's narrative abilities. Narrative retelling is a useful task for predicting which children may be at risk for later literacy problems.

Literacy outcomes of children with early childhood speech sound disorders: impact of endophenotypes.

PURPOSE: To demonstrate that early childhood speech sound disorders (SSD) and later school-age reading, written expression, and spelling skills are influenced by shared endophenotypes that may be in part genetic. METHOD: Children with SSD and their siblings were assessed at early childhood (ages 4-6 years) and followed at school age (7-12 years). The relationship of shared endophenotypes with early childhood SSD and school-age outcomes and the shared genetic influences on these outcomes were examined. RESULTS: Structural equation modeling demonstrated that oral motor skills, phonological awareness, phonological memory, vocabulary, and speeded naming have varying influences on reading decoding, spelling, spoken language, and written expression at school age. Genetic linkage studies demonstrated linkage for reading, spelling, and written expression measures to regions on chromosomes 1, 3, 6, and 15 that were previously linked to oral motor skills, articulation, phonological memory, and vocabulary at early childhood testing. CONCLUSIONS: Endophenotypes predict school-age literacy outcomes over and above that predicted by clinical diagnoses of SSD or language impairment. Findings suggest that these shared endophenotypes and common genetic influences affect early childhood SSD and later school-age reading, spelling, spoken language, and written expression skills.

Heritability estimation for speech-sound traits with developmental trajectories.

Numerous studies have examined genetic influences on developmental problems such as speech sound disorders (SSD), language impairment (LI), and reading disability. Disorders such as SSD are often analyzed using their component endophenotypes. Most studies, however, have involved comparisons of twin pairs or siblings of similar age, or have adjusted for age ignoring effects that are peculiar to age-related trajectories for phenotypic change. Such developmental changes in these skills have limited the usefulness of data from parents or siblings who differ substantially in age from the probands. Employing parent-offspring correlation in heritability estimation permits a more precise estimate of the additive component of genetic variance, but different generations have to be measured for the same trait. We report on a smoothing procedure which fits a series of lines that approximate a curve matching the developmental trajectory. This procedure adjusts for changes in measures with age, so that the adjusted values are on a similar scale for children, adolescents, and adults. We apply this method to four measures of phonological memory and articulation in order to estimate their heritability. Repetition of multisyllabic real words (MSW) showed the best heritability estimate of 45% in this sample. We conclude that differences in measurement scales across the age span can be reconciled through non-linear modeling of the developmental process.

Speech and language skills of parents of children with speech sound disorders.

PURPOSE: This study compared parents with histories of speech sound disorders (SSD) to parents without known histories on measures of speech sound production, phonological processing, language, reading, and spelling. Familial aggregation for speech and language disorders was also examined. METHOD: The participants were 147 parents of children with SSD (58 fathers and 89 mothers) who were directly tested and interviewed for family history of disorders. RESULTS: Thirty-six parents (18 mothers and 18 fathers) reported enrollment in speech therapy as children for SSD. Parents with a history of speech therapy obtained lower scores on the Multisyllabic Word Repetition, Nonword Repetition, and Tongue Twister tasks than parents without such histories. These parents also had poorer reading, spelling, and receptive language skills. Parents with histories of SSD and additional language impairments (LI) performed worse than parents with isolated SSD on all measures except Pig Latin and oral motor skills. Familial aggregation for SSD and LI was supported. In addition, the likelihood of SSD in a family member increased by a factor of 1.9 over rates of SSD found in individuals without additional family members with SSD, and the odds of LI increased by a factor of 4.1 over rates of LI found in individuals without additional family members with LI for each additional family member with SSD or LI, respectively. CONCLUSIONS: The results documented both residual effects in adulthood of childhood SSD and familial aggregation for SSD. These residual difficulties do not appear to affect educational and occupational outcomes.

Speech sound disorder influenced by a locus in 15q14 region.

Despite a growing body of evidence indicating that speech sound disorder (SSD) has an underlying genetic etiology, researchers have not yet identified specific genes predisposing to this condition. The speech and language deficits associated with SSD are shared with several other disorders, including dyslexia, autism, Prader-Willi Syndrome (PWS), and Angelman's Syndrome (AS), raising the possibility of gene sharing. Furthermore, we previously demonstrated that dyslexia and SSD share genetic susceptibility loci. The present study assesses the hypothesis that SSD also shares susceptibility loci with autism and PWS. To test this hypothesis, we examined linkage between SSD phenotypes and microsatellite markers on the chromosome 15q14-21 region, which has been associated with autism, PWS/AS, and dyslexia. Using SSD as the phenotype, we replicated linkage to the 15q14 region (P=0.004). Further modeling revealed that this locus influenced oral-motor function, articulation and phonological memory, and that linkage at D15S118 was potentially influenced by a parent-of-origin effect (LOD score increase from 0.97 to 2.17, P=0.0633). These results suggest shared genetic determinants in this chromosomal region for SSD, autism, and PWS/AS.

Dimensions of early speech sound disorders: A factor analytic study.

UNLABELLED: The goal of this study was to classify children with speech sound disorders (SSD) empirically, using factor analytic techniques. Participants were 3-7-year olds enrolled in speech/language therapy (N = 185). Factor analysis of an extensive battery of speech and language measures provided support for two distinct factors, representing the skill dimensions of articulation/phonology and semantic/syntactic skills. To validate these factors, 38 of the children were followed to school age to re-evaluate speech and language skills and assess reading/spelling achievement. The validity of the two factors was supported by their differential associations with school-age reading and spelling achievement, persistence of SSD, and affection status in family members. A closer relationship of the family member to the proband and male gender predicted higher odds of a disorder. The findings suggest that articulation/phonology and language abilities are at least partially independent in children with SSD and that these constructs have distinct clinical and biological correlates. LEARNING OUTCOMES: The reader will develop knowledge about subtypes of speech sound disorders, understand the relationship between early speech sound disorders and later reading and spelling difficulties, and obtain information concerning familial transmission of speech sound disorders.

The genetic bases of speech sound disorders: evidence from spoken and written language.

The purpose of this article is to review recent findings suggesting a genetic susceptibility for speech sound disorders (SSD), the most prevalent communication disorder in early childhood. The importance of genetic studies of SSD and the hypothetical underpinnings of these genetic findings are reviewed, as well as genetic associations of SSD with other language and reading disabilities. The authors propose that many genes contribute to SSD. They further hypothesize that some genes contribute to SSD disorders alone, whereas other genes influence both SSD and other written and spoken language disorders. The authors postulate that underlying common cognitive traits, or endophenotypes, are responsible for shared genetic influences of spoken and written language. They review findings from their genetic linkage study and from the literature to illustrate recent developments in this area. Finally, they discuss challenges for identifying genetic influence on SSD and propose a conceptual framework for study of the genetic basis of SSD.

School-age follow-up of children with childhood apraxia of speech.

PURPOSE: The primary aim of this study was to examine differences in speech/language and written language skills between children with suspected childhood apraxia of speech (CAS) and children with other speech-sound disorders at school age. METHOD: Ten children (7 males and 3 females) who were clinically diagnosed with CAS (CAS group) were followed from the preschool years (ages 4-6) to school age (ages 8-10) and were compared with children with isolated speech-sound disorders (S group; n = 15) and combined speech-sound and language disorders (SL group; n = 14). Assessments included measures of articulation, diadochokinetic rates, language, reading, and spelling. RESULTS: At follow-up, 8 of the children with CAS demonstrated improvement in articulation scores, but all 10 continued to have difficulties in syllable sequencing, nonsense word repetition, and language abilities. The children also exhibited comorbid disorders of reading and spelling. Group comparisons revealed that the CAS group was similar to the SL group, but not the S group during the preschool years. By school age, however, the SL group made more positive changes in language skills than the CAS group. CLINICAL IMPLICATIONS: These findings suggest that the phenotype for CAS changes with age. Language disorders persist in these children despite partial resolution of articulation problems. Children with CAS are also at risk for reading and spelling problems.