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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 goal of this study was to determine whether adolescent outcomes for individuals with histories of early speech sound disorders (SSD) could be differentiated by speech and language skills at earlier ages (preschool, 4–6 years, and school age, 7–10 years). Method The study used a retrospective longitudinal design. Participants with and without histories of early SSD were classified in adolescence as having no SSD, resolved SSD, low multisyllabic word (MSW; difficulty with MSW repetition but no errors in conversational speech), or persistent speech disorders (errors in both conversational speech and MSW repetition). Analysis of variance was employed to determine whether early speech, language, and literacy skills distinguished these adolescent outcome groups. Results Preschool and school-age skills differed for adolescents whose SSD had resolved from those who had persistent speech errors. Adolescents with errors solely in production of MSWs (Low MSW) did not differ in early speech and language skills from adolescents who had difficulty with both MSWs and persistent errors in conversation. Conclusions Speech and language assessments earlier in childhood can help establish risks for persistent SSD and other language and literacy difficulties in adolescence. Early identification of these clinically relevant subgroups of SSD may allow for early targeted interventions. Supplemental Material https://doi.org/10.23641/asha.9932279

Purpose In this study, the authors determined adolescent speech, language, and literacy outcomes of individuals with histories of early childhood speech sound disorders (SSD) with and without comorbid language impairment (LI) and examined factors associated with these outcomes. Method This study used a prospective longitudinal design. Participants with SSD ( n = 170), enrolled at early childhood (4–6 years) were followed at adolescence (11–18 years) and were compared to individuals with no histories of speech or language impairment (no SSD; n = 146) on measures of speech, language, and literacy. Comparisons were made between adolescents with early childhood histories of no SSD, SSD only, and SSD plus LI as well as between adolescents with no SSD, resolved SSD, and persistent SSD. Results Individuals with early childhood SSD with comorbid LI had poorer outcomes than those with histories of SSD only or no SSD. Poorer language and literacy outcomes in adolescence were associated with multiple factors, including persistent speech sound problems, lower nonverbal intelligence, and lower socioeconomic status. Adolescents with persistent SSD had higher rates of comorbid LI and reading disability than the no SSD and resolved SSD groups. Conclusion Risk factors for language and literacy problems in adolescence include an early history of LI, persistent SSD, lower nonverbal cognitive ability, and social disadvantage.

OBJECTIVES Speech sound disorder (SSD) is one of the most common communication disorders, with a prevalence rate of 16% at 3 years of age, and an estimated 3.8% of children still presenting speech difficulties at 6 years of age. Several studies have identified promising associations between communication disorders and genes in brain and neuronal pathways; however, there have been few studies focusing on SSD and its associated endophenotypes. On the basis of the hypothesis that neuronal genes may influence endophenotypes common to communication disorders, we focused on three genes related to brain and central nervous system functioning: the dopamine D2 receptor (DRD2) gene, the arginine-vasopressin receptor 1a (AVPR1A) gene, and the microcephaly-associated protein gene (ASPM). METHODS We examined the association of these genes with key endophenotypes of SSD - phonological memory measured through multisyllabic and nonword repetition, vocabulary measured using the Expressive One Word Picture Vocabulary Test and Peabody Picture Vocabulary Test, and reading decoding measured using the Woodcock Reading Mastery Tests Revised - as well as with the clinical phenotype of SSD. We genotyped tag single nucleotide polymorphisms in these genes and examined 498 individuals from 180 families. RESULTS These data show that several single nucleotide polymorphisms in all three genes were associated with phonological memory, vocabulary, and reading decoding, with P less than 0.05. Notably, associations in AVPR1A (rs11832266) were significant after multiple testing correction. Gene-level tests showed that DRD2 was associated with vocabulary, ASPM with vocabulary and reading decoding, and AVPR1A with all three endophenotypes. CONCLUSION Endophenotypes common to SSD, language impairment, and reading disability are all associated with these neuronal pathway genes.

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. Supplemental Material https://doi.org/10.23641/asha.6170354

Speech sound disorders (SSD) are the largest group of communication disorders observed in children. One explanation for these disorders is that children with SSD fail to form stable phonological representations when acquiring the speech sound system of their language due to poor phonological memory (PM). The goal of this study was to examine PM in individuals with histories of SSD employing functional MR imaging (fMRI). Participants were six right-handed adolescents with a history of early childhood SSD and seven right-handed matched controls with no history of speech and language disorders. We performed an fMRI study using an overt non-word repetition (NWR). Right lateralized hypoactivation in the inferior frontal gyrus and middle temporal gyrus was observed. The former suggests a deficit in the phonological processing loop supporting PM, while the later may indicate a deficit in speech perception. Both are cognitive processes involved in speech production. Bilateral hyperactivation observed in the pre and supplementary motor cortex, inferior parietal, supramarginal gyrus and cerebellum raised the possibility of compensatory increases in cognitive effort or reliance on the other components of the articulatory rehearsal network and phonologic store. These findings may be interpreted to support the hypothesis that individuals with SSD may have a deficit in PM and to suggest the involvement of compensatory mechanisms to counteract dysfunction of the normal network.

Numerous studies have examined genetic influences on developmental problems such as speech sound disorders, language impairment, and reading disability. Disorders such as speech sound disorder (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 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.

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.

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.

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.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.

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.

Forty-two children (29 boys and 13 girls), ages 3–10 years, were referred from the caseloads of clinical speech-language pathologists for suspected childhood apraxia of speech (CAS). According to results from tests of speech and oral motor skills, 22 children met criteria for CAS, including a severely limited consonant and vowel repertoire, difficulty sequencing syllables, and inconsistent and unusual errors. Family pedigrees for these children were constructed through parent interviews and direct testing of nuclear family members. Familial aggregation for speech-sound and language disorders was demonstrated with 86% reporting at least one nuclear family member affected. Based on parent report, 13 of the 22 children (59%) had at least one affected parent. However, CAS was evident in only two siblings of probands with CAS and two probands with other speech-sound disorders. Based on testing, overall affection rates of speech-sound/language disorders were higher in families of children with CAS than in families of children with other speech-sound disorders. Mothers of children with CAS demonstrated a higher affection rate than mothers of children with other speech-sound disorders. A sex-related threshold model of transmission was also supported with brothers more often affected than sisters for male probands only. If our inclusionary criteria for CAS are valid, these findings support a general verbal trait deficit hypothesis. Learning outcomes (1) As a result of this activity, the participant will understand potential familial risk factors for CAS; (2) will differentiate aggregation for speech-sound and language disorders in families with CAS from families of children who have other speech-sound disorders; (3) will distinguish how familial aggregation differs in families of boys and girls with CAS; (4) will determine how children with CAS differ in severity from those with other speech-sound disorders.

Fifty-two children identified at age 4 to 6 years as demonstrating a moderate to severe expressive phonology disorder were followed to the third and fourth grades. Children were classified into two groups based on the presence of an early phonology disorder in isolation (P) or the presence of a phonology disorder with other language problems (PL). At follow-up, articulation measures failed to differentiate the groups; however, the PL group performed more poorly than the P group on measures of phoneme awareness, language, reading decoding, reading comprehension, and spelling. The P group demonstrated poor spelling skills relative to their reading and language abilities, suggesting residual spelling weaknesses in these children. The PL group reported more nuclear family members with speech-language disorders and with reading disorders than the P group. Findings support previous research linking early language disorders with later reading difficulties.

Tests of phonology, semantics, and syntax were administered to 52 preschool children (19 girls and 33 boys, age 4-6 years) with moderate to severe speech sound disorders. The children's performance on these tests was used to predict language, reading, and spelling abilities at school age (age 8-11 years). Language impairment at school age was related to poor performance on preschool tests of syntax and nonsense word repetition, while reading impairment was predicted by poor performance in all preschool test domains (phonology, semantics, and syntax). In contrast, spelling impairment was predicted by deficits in preschool tests of phonological processing as measured by the Word Discrimination subtest of the Test of Language Development - Primary 2. Family history for speech and language disorders did not predict language, reading, or spelling impairment at school age. However, family history for reading disorders was a good predictor of school-age spelling difficulties.

Purpose The relationship between phonological awareness, overall language, vocabulary, and nonlinguistic cognitive skills to decoding and reading comprehension was examined for students at 3 stages of literacy development (i.e., early elementary school, middle school, and high school). Students with histories of speech sound disorders (SSD) with and without language impairment (LI) were compared to students without histories of SSD or LI (typical language; TL). Method In a cross-sectional design, students ages 7;0 (years;months) to 17;9 completed tests that measured reading, language, and nonlinguistic cognitive skills. Results For the TL group, phonological awareness predicted decoding at early elementary school, and overall language predicted reading comprehension at early elementary school and both decoding and reading comprehension at middle school and high school. For the SSD-only group, vocabulary predicted both decoding and reading comprehension at early elementary school, and overall language predicted both decoding and reading comprehension at middle school and decoding at high school. For the SSD and LI group, overall language predicted decoding at all 3 literacy stages and reading comprehension at early elementary school and middle school, and vocabulary predicted reading comprehension at high school. Conclusion Although similar skills contribute to reading across the age span, the relative importance of these skills changes with children's literacy stages.

This study used a cross-sectional design to examine the performance of people with a history of a preschool phonology disorder on measures of phonology, reading, and spelling at preschool age ( n =20), grade school age ( n =23), adolescence ( n =17), and adulthood ( n =17). Results showed that at each age group, subjects with a history of a disorder performed more poorly than control subjects matched for age, sex, and socioeconomic status in all domains. Comparisons across each successive age group revealed a higher performance on measures from preschool to grade school age, and a smaller but steady improvement from grade school age to adolescence to adulthood. Subjects with a history of other language problems, in addition to the phonology disorder overall, performed more poorly than subjects with a history of a preschool phonology disorder alone on the reading and spelling measures. These findings suggest that remnants of a preschool phonology disorder are detectable past grade school age and into adulthood.

Background/Aims: Genetic studies have raised the possibility of common bases for cognitive linguistic disorders such as speech sound disorder (SSD), reading disorder (RD) and language impairment (LI). Thus, some of the same genes may jointly influence cognitive components within and between these three disorders. We examined the plausibility of this theory in a sample of families ascertained on the basis of a child with SSD. Methods: Using the method of generalized estimating equations to solve a bivariate family predictive model we obtained measures of comorbidity and familial aggregation of SSD and LI. We then used two methods of multipoint model-free linkage analysis to evaluate SSD and LI psychometric test measures over a region previously implicated in linkage studies of RD, DYX8 region, 1p34-p36. Results: Bivariate phenotypic analyses show evidence of comorbidity and within family aggregation and coaggregation of SSD and LI. In addition, two regions on chromosome 1 show suggestive evidence of linkage. The first region was previously reported in dyslexia studies. Our maximum linkage signal in this region measured articulation (p = 0.0009) in SSD sibling pairs. The second region is characterized by processes involved in language production, with the maximum linkage signal measuring listening comprehension (p = 0.0019) using all sibling pairs. Conclusion: We conclude that the DYX8 region could bear genes controlling pleiotropic effects on SSD, LI and RD.

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.

The speech production skills of 38 school-aged siblings and 94 parents of children with phonology disorders were assessed by administering tasks involving the repetition of multisyllabic real and nonsense words, and “difficult-to-articulate” phrases and sentences. Results demonstrated that speech production, as measured by these tasks, continues to improve into adulthood. Furthermore, family members who reported histories of childhood speech and language problems performed more poorly on these challenging articulatory tasks than did individuals without such a history. These tasks were positively correlated with reading, spelling, and language achievement measures, thus suggesting a relationship between spoken and written language.

Familial aggregation of speech and language disorders was examined as a basis of subgrouping children with phonologic disorders. Fifty-nine children with phonologic disorders were subgrouped according to whether or not other nuclear family members reported a history of speech/language disorders. Thirty-four subjects (58%) reported at least one other nuclear family member affected and 25 subjects (42%) reported no other nuclear family members affected. Groups were compared on measures of articulation, phonology, language, and oral motor skills to determine if the familial phonologic subgroup presented a unique profile of speech and language deficits. Significant group differences were not observed. However, children with positive nuclear family histories tended to perform more poorly than children without histories on all tasks, although not reaching significance. Although all parents were considered to have achieved normal adult articulation, parents of children with positive family histories also tended to perform more poorly than parents of children with negative histories. Results suggested that poorer oral motor coordination and productive phonology may distinguish individuals with familial phonologic disorders from individuals with phonologic disorders of unknown origin.