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BACKGROUND: Elevated lead levels in children are a persistent public health problem, particularly in urban areas in the United States, yet few prospective studies have examined the association of childhood lead levels with substance use in adolescence. OBJECTIVES: To determine the association of early lead levels with adolescent substance use and whether childhood IQ, language skills, and externalizing (aggressive and disruptive) behavior mediate the association, controlling for confounding biological and environmental factors. METHODS: The participants (N = 265) were a subsample of a prospective birth cohort study on the developmental effects of prenatal cocaine exposure in the Midwest United States. Blood lead levels (BLL) were assessed at age 4, IQ at age 11, language skills and externalizing behavior at age 12, and substance (alcohol, tobacco, marijuana) use and substance use-related problems at age 15. Biologic assays (hair, urine, bloodspots), along with self-report, were utilized to determine adolescent substance use. Path analyses were conducted to examine the direct and indirect associations of BLL with adolescent substance use. RESULTS: The children's mean BLL at 4 years of age was 7.07 (SD = 4.12) µg/dL. Approximately 31% of adolescents used tobacco or marijuana, 40% used alcohol, and 23% reported experiencing substance use-related problems at age 15.7 (SD = 0.28). Elevated BLL was related to a higher likelihood of substance use. Childhood language skills fully mediated the relationship of BLL with substance use-related problems. IQ was related to neither substance use nor substance use-related problems. DISCUSSION: Elevated BLL in preschool years is a risk factor for adolescent substance use and related problems. Early screening and intervention for language impairment may reduce substance use-related problems.
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Chumbo , Transtornos Relacionados ao Uso de Substâncias , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Chumbo/toxicidade , Estudos Longitudinais , Gravidez , Estudos Prospectivos , Transtornos Relacionados ao Uso de Substâncias/epidemiologiaRESUMO
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.
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Apraxias , Transtornos do Desenvolvimento da Linguagem , Apraxias/diagnóstico , Apraxias/epidemiologia , Criança , Humanos , Fonética , Fala , Distúrbios da Fala/epidemiologiaRESUMO
This study examined the spelling skills in middle childhood and adolescence in individuals with histories of early childhood speech sound disorders (SSD) with and without language impairment (LI). Youth without such histories were also included (No SSD/LI group). The heritability of spelling skills at each age level was estimated. Children with SSD were classified as SSD-only, SSD with LI but without childhood apraxia of speech (SSD + LI/ No CAS), and CAS and LI (CAS + LI). The SSD-only group did not differ in spelling from the No SSD/LI group, suggesting that SSD-only did not increase risk for poor spelling. The SSD + LI/No CAS and CAS + LI groups had poorer spelling skills than the SSD-only and No SSD/LI groups. Spelling was associated with phonological awareness in the middle childhood and adolescent samples and with rapid automatized naming in the adolescent sample. Heritability of spelling skills was stronger in adolescence than in middle childhood. Differences in the correlates of spelling and in heritability at the two ages suggest developmental changes in the factors contributing to spelling.
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OBJECTIVE: The study aims to describe developmental outcomes from a longitudinal prospective cohort (Cleveland study) of prenatally cocaine-exposed (CE) infants. METHODS: Two hundred eighteen CE and 197 nonexposed infants were enrolled at birth and followed through mid-adolescence. Birth CE status was determined by interview and biologic measures. Multiple demographic, drug, and environmental correlates were controlled. Standardized, normative, reliable measures of fetal growth, intelligence quotient (IQ), behavior, executive function, and language were given at each age and risk for substance misuse assessed in adolescence. A subset of children received volumetric magnetic resonance imaging (MRI) at 7 years and functional MRI at 14 years. The effect of CE was determined through multiple regression analyses controlling for confounders. RESULTS: Cocaine exposed had significant negative effects on fetal growth, attention, executive function, language, and behavior, while overall IQ was not affected. CE had significant negative effects on perceptual reasoning IQ and visual-motor skills and predicted lower volume of corpus callosum and decreased gray matter in the occipital and parietal lobes. CE children had higher risk for substance misuse. Confounding risk factors had additive effects on developmental outcomes. CONCLUSIONS: Prenatal exposure to cocaine was related to poorer perceptual organization IQ, visual-spatial information processing, attention, language, executive function, and behavior regulation through early adolescence.
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Anestésicos Locais/efeitos adversos , Transtornos do Comportamento Infantil/etiologia , Cocaína/efeitos adversos , Deficiências do Desenvolvimento/induzido quimicamente , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Adolescente , Fatores Etários , Transtornos do Comportamento Infantil/diagnóstico , Estudos de Coortes , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Humanos , Illinois/epidemiologia , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Oxigênio/sangue , Gravidez , Efeitos Tardios da Exposição Pré-Natal/patologia , Análise de RegressãoRESUMO
This article introduces the Journal of Speech, Language, and Hearing Research Special Issue: Selected Papers From the 2022 Apraxia Kids Research Symposium. The field of childhood apraxia of speech (CAS) has developed significantly in the past 15 years, with key improvements in understanding of basic biology including genetics, neuroscience, and computational modelling; development of diagnostic tools and methods; diversity of evidence-based interventions with increasingly rigorous experimental designs; and understanding of impacts beyond impairment-level measures. Papers in this special issue not only review and synthesize the some of the substantial progress to date but also present novel findings addressing critical research gaps and adding to the overall body of knowledge. A second aim of this prologue is to report the current research needs in CAS, which arose from symposium discussions involving researchers, clinicians, and Apraxia Kids community members (including parents of children with CAS). Four primary areas of need emerged from discussions at the symposium. These were: (a) What questions should we ask? (b) Who should be in the research? (c) How do we conduct the research? and (d) How do we move from research to practice? Across themes, symposium attendees emphasized the need for CAS research to better account for the diversity of people with CAS and improve the timeliness of implementation of high-level evidence-based practice across the lifespan. It is our goal that the articles and prologue discussion in this special issue provide an appreciation of advancements in CAS research and an updated view of the most pressing needs for future research.
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PURPOSE: The study's primary aims were to describe the long-term speech outcomes for adolescents and young adults with a history of childhood apraxia of speech (CAS) and to examine the association of persistent speech sound errors with measures of literacy skills, phonological processing, motor speech production, and parent report of early motor difficulty. METHOD: Data from a large longitudinal 25-year study were used to explore outcomes for 32 individuals with a history of CAS, ages 12;6 (years;months) to 25 years (M = 17.4, SD = 4.7). Persistent and nonpersistent groups were compared on decoding, phonological processing, multisyllabic word repetition, diadochokinetic rate, and parent report of motor involvement. Parametric (Welch's t tests) and nonparametric tests (Wilcoxon and Fisher exact tests) were used to identify differences between the groups' distributions. Developmental trajectories of speech production were plotted. RESULTS: Outcomes for individuals with CAS are highly variable, with some demonstrating speech sound errors into adolescence and young adulthood. Speech sound errors were primarily on later developing sounds. Persistence was significantly associated with early motor difficulties. Difficulties with multisyllabic words, phonological processing, and literacy were often present regardless of persistence or nonpersistence of speech errors. CONCLUSIONS: Children with CAS are at risk for persistent speech sound errors into adulthood. For children showing limited progress with more traditional speech therapy, alternative interventions should be explored. Individuals with persistent speech sound errors are more likely to have a history of early motor deficits. Regardless of persistence, participants with CAS demonstrated ongoing weaknesses in literacy, phonological processing skills, and complex speech production tasks.
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Inspired by the localization, on 15q21.2 of the CYP19A1 gene in the linkage region of speech and language disorders, and a rare translocation in a dyslexic individual that was brought to our attention, we conducted a series of studies on the properties of CYP19A1 as a candidate gene for dyslexia and related conditions. The aromatase enzyme is a member of the cytochrome P450 super family, and it serves several key functions: it catalyzes the conversion of androgens into estrogens; during early mammalian development it controls the differentiation of specific brain areas (e.g. local estrogen synthesis in the hippocampus regulates synaptic plasticity and axonal growth); it is involved in sexual differentiation of the brain; and in songbirds and teleost fishes, it regulates vocalization. Our results suggest that variations in CYP19A1 are associated with dyslexia as a categorical trait and with quantitative measures of language and speech, such as reading, vocabulary, phonological processing and oral motor skills. Variations near the vicinity of its brain promoter region altered transcription factor binding, suggesting a regulatory role in CYP19A1 expression. CYP19A1 expression in human brain correlated with the expression of dyslexia susceptibility genes such as DYX1C1 and ROBO1. Aromatase-deficient mice displayed increased cortical neuronal density and occasional cortical heterotopias, also observed in Robo1-/- mice and human dyslexic brains, respectively. An aromatase inhibitor reduced dendritic growth in cultured rat neurons. From this broad set of evidence, we propose CYP19A1 as a candidate gene for human cognitive functions implicated in reading, speech and language.
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Aromatase/genética , Encéfalo/crescimento & desenvolvimento , Dislexia/genética , Transtornos da Linguagem/genética , RNA Mensageiro/análise , Distúrbios da Fala/genética , Animais , Aromatase/metabolismo , Encéfalo/metabolismo , Encéfalo/patologia , Estudos de Coortes , Proteínas do Citoesqueleto , Dislexia/metabolismo , Feminino , Regulação da Expressão Gênica , Predisposição Genética para Doença , Humanos , Transtornos da Linguagem/metabolismo , Masculino , Camundongos , Camundongos Knockout , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Locos de Características Quantitativas , Receptores Imunológicos/genética , Receptores Imunológicos/metabolismo , Distúrbios da Fala/metabolismo , Translocação Genética , Proteínas RoundaboutRESUMO
Green June beetle, Cotinis nitida (L.), is an important pest of grapes, peaches, blackberries, blueberries, apples, and pears. Currently, there is no inexpensive, commercially available lure or trap that could serve monitoring green June beetle adults. The objective of this study was to develop and optimize an inexpensive bottle trap baited with isopropanol to attract and capture green June beetle adults. Bottle traps baited with 8 mm diameter cotton wicked dispensers emitted from 9 to 43 ml isopropanol in 48 h and maintained that alcohol at a fairly constant concentration compared with the prototypical bottle trap with large surface evaporation of isopropanol poured into the bottom of the trap. Over 5 d, the isopropanol in the wicked dispensers remained at the same stable concentration of 45-44.5%, whereas isopropanol concentration in the bottom of prototypical traps dropped from 45% to approximately 11% after 24 h and to 0.2% by 48 h. Bottle traps with isopropanol dispensers and cotton wicks of 4, 6, or 8 mm in diameter caught significantly more green June beetles than did prototypical bottle traps with no dispensers. Isopropanol concentrations of 45.5, 66, and 91% attracted more green June beetle adults than the lower concentrations. Significantly more green June beetle adults were attracted to traps with dispensers set at 1.3 m height than those at lower heights, and traps topped with a blue, orange, or white band captured more green June beetle adults than those with bands of other colors. The optimized bottle trap is made from recycled transparent polyethylene terephthalate beverage bottle (710-ml; 24 oz.) with a blue, orange, or white band, baited with an 8 mm cotton wick dispenser of 45.5% isopropanol and hung at a height of 1.3 m. Cost and uses for this trap are discussed.
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2-Propanol/administração & dosagem , Besouros , Entomologia/instrumentação , Animais , Cor , Entomologia/economia , Feminino , MasculinoRESUMO
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.
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Apraxias , Dislexia , Transtornos do Desenvolvimento da Linguagem , Adolescente , Apraxias/diagnóstico , Criança , Dislexia/diagnóstico , Dislexia/epidemiologia , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Fonética , FalaRESUMO
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.
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Transtornos da Articulação/genética , Transtornos da Linguagem/genética , Fonética , Leitura , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Modelos Genéticos , Fenótipo , FalaRESUMO
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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Apraxias , Transtornos da Linguagem , Transtorno Fonológico , Adolescente , Apraxias/diagnóstico , Apraxias/epidemiologia , Comorbidade , Humanos , Transtornos da Linguagem/diagnóstico , Transtornos da Linguagem/epidemiologia , FalaRESUMO
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.
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Transtornos do Desenvolvimento da Linguagem/epidemiologia , Transtorno Fonológico/epidemiologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/psicologia , Alfabetização , Estudos Longitudinais , Masculino , Estudos Retrospectivos , Transtorno Fonológico/diagnóstico , Transtorno Fonológico/psicologiaRESUMO
OBJECTIVES: In this study, the authors aimed to examine the association of a range of blood lead levels on language skills assessed at 4, 6, 10 and 12 years of age using a prospective longitudinal design controlling for potential confounding variables including maternal vocabulary, caregiver's psychological distress and symptomatology, child's race and prenatal drug exposure. METHODS: The participants (Nâ¯=â¯278) were a subsample of a large longitudinal study that examined the association of prenatal drug exposure on children who were followed prospectively from birth and assessed for receptive and expressive language skills at 4, 6, 10 and 12 years of age. Blood lead levels were determined at 4-years of age by atomic absorption spectrometry. A mixed model approach with restricted maximum likelihood procedures was used to assess the association of lead on language outcomes. RESULTS: Longitudinal mixed model analyses suggested a negative effect of lead exposure on both receptive and expressive language, with the adverse outcomes of lead exposure appearing to become more prominent at 10 and 12 years. Higher caregiver vocabulary was positively associated with child's language scores whereas caregiver psychological distress appeared to negatively affect language scores. Prenatal drug exposure was not related to the effects of lead on language skills. CONCLUSIONS: These findings suggest that elevated blood lead levels occurring early in life may be associated with poorer language skills at older ages. A language rich environment may minimize the negative influence of early lead exposure on language skills, with psychological distress seemingly exacerbating the negative outcome.
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Linguagem Infantil , Transtornos do Desenvolvimento da Linguagem/etiologia , Desenvolvimento da Linguagem , Chumbo/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal , Criança , Pré-Escolar , Transtornos Relacionados ao Uso de Cocaína/complicações , Feminino , Humanos , Chumbo/sangue , Estudos Longitudinais , Masculino , Testes Neuropsicológicos , Gravidez , Estudos ProspectivosRESUMO
This study explored the biology of raspberry crown borer, Pennisetia marginata (Harris) (Lepidoptera: Sesiidae), in Arkansas and the optimum timing for insecticide and nematode applications. The duration of P. marginata's life cycle was observed to be 1 yr in Arkansas. Insecticide trials revealed that bifenthrin, chlorpyrifos, imidacloprid, metaflumizone, and metofluthrin efficacy were comparable with that of azinphosmethyl, the only labeled insecticide for P. marginata in brambles until 2005. Applications on 23 October 2003 for plots treated with bifenthrin, chlorpyrifos, and azinphosmethyl resulted in >88% reduction in larvae per crown. Applications on 3 November 2004 of metaflumizone, metofluthrin, and bifenthrin resulted in >89% reduction in larvae per crown. Applications on 7 April 2005 for metofluthrin, imidacloprid, bifenthrin, metaflumizone, and benzoylphenyl urea resulted in >64% reduction in the number of larvae per crown. Applications on 6 May 2004 did not reduce larval numbers. The optimum timing for treatments was found to be between October and early April, before the larvae tunneled into the crowns of plants. Applying bifenthrin with as little as 468 liters water/ha (50 gal/acre) was found to be as effective against larvae as higher volumes of spray. Nematode applications were less successful than insecticides. Nematode applications of Steinernemafeltiae, Steinernema carpocapsae, and Heterorhabditis bacteriophora reduced larvae counts per plant by 46, 53, and 33%, respectively.
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Controle de Insetos , Inseticidas , Mariposas/fisiologia , Animais , Inseticidas/administração & dosagem , Larva/crescimento & desenvolvimento , Larva/fisiologia , Estágios do Ciclo de Vida , Mariposas/crescimento & desenvolvimento , Nematoides/fisiologiaRESUMO
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.
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Transtornos da Percepção Auditiva/genética , Transtornos do Desenvolvimento da Linguagem/genética , Pais , Fonética , Distúrbios da Fala/genética , Percepção da Fala , Adulto , Transtornos da Percepção Auditiva/diagnóstico , Transtornos da Percepção Auditiva/terapia , Criança , Pré-Escolar , Dislexia/diagnóstico , Dislexia/genética , Dislexia/terapia , Feminino , Humanos , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/terapia , Masculino , Fatores Socioeconômicos , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/terapia , Medida da Produção da Fala , Fonoterapia , Aprendizagem VerbalRESUMO
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.
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Transtornos da Articulação/genética , Gêmeos , Comportamento Verbal , Transtornos da Articulação/epidemiologia , Criança , Pré-Escolar , Dislexia/epidemiologia , Dislexia/genética , Feminino , Humanos , Masculino , Índice de Gravidade de Doença , Medida da Produção da FalaRESUMO
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.
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Linguagem Infantil , Transtornos da Linguagem/classificação , Fatores Etários , Transtornos da Articulação/classificação , Criança , Pré-Escolar , Análise Fatorial , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Medida da Produção da Fala , Comportamento VerbalRESUMO
BACKGROUND: Few studies have considered the long-term psychosocial outcomes of individuals with histories of early childhood speech sound disorders (SSD). Research on long-term psychosocial outcomes of individuals with language impairment (LI) have frequently failed to consider the effects of co-morbid SSD. The purpose of this study was to compare individuals with histories of SSD-only versus SSD with LI on these outcomes and to examine the contributions of other comorbid conditions including reading disorders (RD) and Attention Deficit Hyperactivity Disorder (ADHD). METHODS: Participants were adolescents aged 11-17 years (N=129) and young adults aged 18-33 years (N=98). Probands with SSD were originally recruited between 4 and 6 years of age and classified into SSD-only and SSD+LI groups. Siblings of these children were also assessed at this time and those without SSD or LI were followed as controls. Outcome measures at adolescence and adulthood included ratings of hyperactivity, inattention, anxiety, and depression, as well as internalizing, externalizing, social, and thought problems. Adult outcomes also included educational and employment status and quality of life ratings. Regression modeling was performed to examine the association of SSD, LI, RD, and ADHD with psychosocial outcomes using Generalized Estimating Equations. RESULTS: In the adolescent group, LI was associated with poorer ratings of psychosocial problems on all scales except depression. Histories of SSD-only, RD and ADHD did not independently predict any of the adolescent psychosocial measures. In contrast, LI in the adult sample was not significantly associated with any of the behavior ratings, though RD was related to higher ratings of hyperactivity and inattention and with higher parent ratings of internalizing and externalizing symptoms and thought problems. SSD did not predict any of the adult measures once other comorbid conditions were taken into account. CONCLUSIONS: Poor adolescent psychosocial outcomes for individuals with early childhood SSD were primarily related to comorbid LI and not to SSD per se. At adulthood, comorbid RD and ADHD may influence outcomes more significantly than LI.
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Transtornos da Comunicação/epidemiologia , Transtornos da Comunicação/psicologia , Transtornos da Linguagem/epidemiologia , Transtornos da Linguagem/psicologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Comorbidade , Dislexia/psicologia , Humanos , Estudos Longitudinais , Adulto JovemRESUMO
Converging evidence supports the hypothesis that the most common subtype of childhood speech sound disorder (SSD) of currently unknown origin is genetically transmitted. We report the first findings toward a set of diagnostic markers to differentiate this proposed etiological subtype (provisionally termed speech delay-genetic) from other proposed subtypes of SSD of unknown origin. Conversational speech samples from 72 preschool children with speech delay of unknown origin from 3 research centers were selected from an audio archive. Participants differed on the number of biological, nuclear family members (0 or 2+) classified as positive for current and/or prior speech-language disorder. Although participants in the 2 groups were found to have similar speech competence, as indexed by their Percentage of Consonants Correct scores, their speech error patterns differed significantly in 3 ways. Compared with children who may have reduced genetic load for speech delay (no affected nuclear family members), children with possibly higher genetic load (2+ affected members) had (a) a significantly higher proportion of relative omission errors on the Late-8 consonants; (b) a significantly lower proportion of relative distortion errors on these consonants, particularly on the sibilant fricatives /s/, /z/, and //; and (c) a significantly lower proportion of backed /s/ distortions, as assessed by both perceptual and acoustic methods. Machine learning routines identified a 3-part classification rule that included differential weightings of these variables. The classification rule had diagnostic accuracy value of 0.83 (95% confidence limits = 0.74-0.92), with positive and negative likelihood ratios of 9.6 (95% confidence limits = 3.1-29.9) and 0.40 (95% confidence limits = 0.24-0.68), respectively. The diagnostic accuracy findings are viewed as promising. The error pattern for this proposed subtype of SSD is viewed as consistent with the cognitive-linguistic processing deficits that have been reported for genetically transmitted verbal disorders.