RESUMO
Despite decades of policy that strives to reduce nutrient and sediment export from agricultural fields, surface water quality in intensively managed agricultural landscapes remains highly degraded. Recent analyses show that current conservation efforts are not sufficient to reverse widespread water degradation in Midwestern agricultural systems. Intensifying row crop agriculture and increasing climate pressure require a more integrated approach to water quality management that addresses diverse sources of nutrients and sediment and off-field mitigation actions. We used multiobjective optimization analysis and integrated three biophysical models to evaluate the cost-effectiveness of alternative portfolios of watershed management practices at achieving nitrate and suspended sediment reduction goals in an agricultural basin of the Upper Midwestern United States. Integrating watershed-scale models enabled the inclusion of near-channel management alongside more typical field management and thus directly the comparison of cost-effectiveness across portfolios. The optimization analysis revealed that fluvial wetlands (i.e., wide, slow-flowing, vegetated water bodies within the riverine corridor) are the single-most cost-effective management action to reduce both nitrate and sediment loads and will be essential for meeting moderate to aggressive water quality targets. Although highly cost-effective, wetland construction was costly compared to other practices, and it was not selected in portfolios at low investment levels. Wetland performance was sensitive to placement, emphasizing the importance of watershed scale planning to realize potential benefits of wetland restorations. We conclude that extensive interagency cooperation and coordination at a watershed scale is required to achieve substantial, economically viable improvements in water quality under intensive row crop agricultural production.
Assuntos
Agricultura/economia , Agricultura/normas , Análise Custo-Benefício , Modelos Teóricos , Qualidade da Água/normas , Orçamentos , Comportamento Cooperativo , Geografia , MinnesotaRESUMO
Significant advances in understanding and predicting freshwater algal bloom dynamics have emerged in response to both increased occurrence and financial burden of nuisance and harmful blooms. Several factors have been highlighted as key controls of bloom occurrence, including nutrient dynamics, local hydrology, climatic perturbations, watershed geomorphology, biogeochemistry, food-web control, and algal competition. However, a major research gap continues to be the degree to which groundwater inputs modulate microbial biomass production and food-web dynamics at the terrestrial-aquatic interface. We present a synthesis of groundwater related algal bloom literature, upon which we derive a foundational hypothesis: long residence times cause groundwater to be geochemically and biologically distinct from surface water, allowing groundwater inputs to modulate algal bloom dynamics (growth, decline, toxicity) through its control over in-stream water chemistry. Distinct groundwater chemistry can support or prevent algal blooms, depending on specific local conditions. We highlight three mechanisms that influence the impact of groundwater discharge on algal growth: 1) redox state of the subsurface, 2) extent of water-rock interactions, and 3) stability of groundwater discharge. We underscore that in testing hypotheses related to groundwater control over algal blooms, it is critical to understand how changes in land use, water management, and climate will influence groundwater dynamics and, thus, algal bloom probabilities. Given this challenge, we argue that advances in both modeling and data integration, including genomics data and integrated process-based models that capture groundwater dynamics, are needed to illuminate mechanistic controls and improve predictions of algal blooms.
Assuntos
Eutrofização , Água Subterrânea , Água Doce , Proliferação Nociva de Algas , Hidrologia , RiosRESUMO
PURPOSE: To measure the distress of hospitalized adults with cancer and identify strategies and behaviors to manage distress.â©. PARTICIPANTS & SETTING: 185 adults with cancer hospitalized in a large tertiary hospital in the Midwest.â©. METHODOLOGIC APPROACH: This study involved a one-time assessment using the National Comprehensive Cancer Network's (NCCN's) Distress Thermometer and two open-ended questions. Demographic data were reviewed, and responses to open-ended questions were analyzed by content analysis. A team approach was used to develop and validate themes. â©. FINDINGS: Strategies used by patients to manage distress were categorized as taking charge and embracing help. Helpful strategies were related to quality of life and relationship with care teams. â©. IMPLICATIONS FOR NURSING: Understanding of distress in hospitalized adults with cancer is limited, which warrants the attention of healthcare professionals. Study results have implications to enhance patient care and to address nationally established psychosocial care objectives and NCCN distress screening standards.
Assuntos
Pacientes Internados/psicologia , Neoplasias/psicologia , Enfermagem Oncológica/métodos , Qualidade de Vida/psicologia , Estresse Psicológico/diagnóstico , Estresse Psicológico/enfermagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Meio-Oeste dos Estados Unidos , Pesquisa Qualitativa , Adulto JovemRESUMO
Kaposi's sarcoma (KS) is the most common malignancy in untreated HIV patients. KS is characterised by abnormal neoangiogenesis, inflammation, and proliferation of tumour cells [KS spindle cells (SCs)]. Kaposi's sarcoma-associated herpesvirus (KSHV) is the aetiological agent of KS. KS SCs are the predominant KSHV-infected cells in KS lesions. In this review, we report advances in understanding of the cellular origin of the KS SC, a contentious topic in KSHV research. KS SCs are now known to be of endothelial cell (EC) origin, phenotypically most similar to lymphatic ECs (LECs), but poorly differentiated. We focus on recent insights into KSHV's ability to exploit the normal differentiation pathway and intrinsic plasticity of ECs, through manipulation of EC-specific transcriptional regulators [i.e., prospero homeobox 1 (PROX1) and MAF] and discuss how this may contribute to viral persistence and KS sarcomagenesis.
Assuntos
Diferenciação Celular , Células Endoteliais/patologia , Herpesvirus Humano 8/patogenicidade , Vírus Oncogênicos/patogenicidade , Sarcoma de Kaposi/patologia , Células Endoteliais/virologia , Infecções por HIV/complicações , Infecções por HIV/patologia , Infecções por HIV/virologia , Herpesvirus Humano 8/genética , Humanos , Neovascularização Patológica/patologia , Neovascularização Patológica/virologia , Vírus Oncogênicos/genética , Sarcoma de Kaposi/complicações , Sarcoma de Kaposi/virologiaRESUMO
A dearth of information obscures the true scale of the global illegal trade in wildlife. Herein, we introduce an automated web crawling surveillance system developed to monitor reports on illegally traded wildlife. A resource for enforcement officials as well as the general public, the freely available website, http://www.healthmap.org/wildlifetrade, provides a customizable visualization of worldwide reports on interceptions of illegally traded wildlife and wildlife products. From August 1, 2010 to July 31, 2011, publicly available English language illegal wildlife trade reports from official and unofficial sources were collected and categorized by location and species involved. During this interval, 858 illegal wildlife trade reports were collected from 89 countries. Countries with the highest number of reports included India (n = 146, 15.6%), the United States (n = 143, 15.3%), South Africa (n = 75, 8.0%), China (n = 41, 4.4%), and Vietnam (n = 37, 4.0%). Species reported as traded or poached included elephants (n = 107, 12.5%), rhinoceros (n = 103, 12.0%), tigers (n = 68, 7.9%), leopards (n = 54, 6.3%), and pangolins (n = 45, 5.2%). The use of unofficial data sources, such as online news sites and social networks, to collect information on international wildlife trade augments traditional approaches drawing on official reporting and presents a novel source of intelligence with which to monitor and collect news in support of enforcement against this threat to wildlife conservation worldwide.
Assuntos
Animais Selvagens , Comércio/métodos , Conservação dos Recursos Naturais/métodos , Crime/prevenção & controle , Coleta de Dados/métodos , Internet , Animais , Mineração de Dados/métodos , Mapeamento GeográficoRESUMO
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.
Assuntos
Dislexia/diagnóstico , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Testes de Linguagem/estatística & dados numéricos , Narração , Fonética , Leitura , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Transtornos do Desenvolvimento da Linguagem/psicologia , Estudos Longitudinais , Masculino , Psicometria/estatística & dados numéricos , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fatores de Risco , RedaçãoRESUMO
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.
Assuntos
Transtornos da Articulação/genética , Endofenótipos , Ligação Genética , Fonética , Leitura , Distúrbios da Fala/genética , Transtornos da Articulação/epidemiologia , Transtornos da Articulação/reabilitação , Criança , Pré-Escolar , Dislexia/epidemiologia , Dislexia/genética , Dislexia/reabilitação , Educação , Feminino , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Humanos , Masculino , Memória/fisiologia , Destreza Motora/fisiologia , Fatores de Risco , Irmãos , Fala/fisiologia , Distúrbios da Fala/epidemiologia , Distúrbios da Fala/reabilitação , Medida da Produção da 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.
Assuntos
Transtornos da Articulação/genética , Transtornos da Linguagem/genética , Fonética , Leitura , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Modelos Genéticos , Fenótipo , FalaRESUMO
Kaposi sarcoma herpesvirus (KSHV) induces transcriptional reprogramming of endothelial cells. In particular, KSHV-infected lymphatic endothelial cells (LECs) show an up-regulation of genes associated with blood vessel endothelial cells (BECs). Consequently, KSHV-infected tumor cells in Kaposi sarcoma are poorly differentiated endothelial cells, expressing markers of both LECs and BECs. MicroRNAs (miRNAs) are short noncoding RNA molecules that act post-transcriptionally to negatively regulate gene expression. Here we validate expression of the KSHV-encoded miRNAs in Kaposi sarcoma lesions and demonstrate that these miRNAs contribute to viral-induced reprogramming by silencing the cellular transcription factor MAF (musculoaponeurotic fibrosarcoma oncogene homolog). MAF is expressed in LECs but not in BECs. We identify a novel role for MAF as a transcriptional repressor, preventing expression of BEC-specific genes, thereby maintaining the differentiation status of LECs. These findings demonstrate that viral miRNAs could influence the differentiation status of infected cells, and thereby contribute to KSHV-induced oncogenesis.
Assuntos
Reprogramação Celular , Células Endoteliais/citologia , Células Endoteliais/patologia , Herpesvirus Humano 8/metabolismo , MicroRNAs/metabolismo , Proteína Oncogênica v-maf/metabolismo , Sarcoma de Kaposi/fisiopatologia , Diferenciação Celular , Linhagem Celular , Linhagem Celular Tumoral , Regulação para Baixo , Células Endoteliais/metabolismo , Células Endoteliais/virologia , Regulação Viral da Expressão Gênica , Inativação Gênica , Células HeLa , Infecções por Herpesviridae/fisiopatologia , Herpesvirus Humano 8/genética , HumanosRESUMO
OBJECTIVE: Disorders of articulation or speech-sound disorders (SSD) are common in early childhood. Children with these disorders may be at risk for reading difficulties because they may have poor auditory, phonologic, and verbal memory skills. METHODS: We sought to characterize the reading and writing readiness of preschool children with SSD and identify factors associated with preliteracy skills. Subjects were 125 children aged 3 to 6 years with moderate to severe SSD; 53% had comorbid language impairment (LI). Reading readiness was measured with the Test of Early Reading Ability-2 (TERA) and writing skills with the Test of Early Written Language-2 (TEWL), which assessed print concept knowledge. Linear regression was used to examine the association between SSD severity and TERA and TEWL scores and analysis of variance to examine the effect of comorbid LI. Performance on a battery of speech and language tests was reduced by way of factor analysis to composites for articulation, narrative, grammar, and word knowledge skills. RESULTS: Early reading and writing scores were significantly lower for children with comorbid LI but were not related to SSD severity once language status was taken into account. Composites for grammar and word knowledge were related to performance on the TERA and TEWL, even after adjusting for Performance IQ. Below average language skills in preschool place a child at risk for deficits in preliteracy skills, which may have implications for the later development of reading disability. CONCLUSION: Preschool children with SSD and LI may benefit from instruction in preliteracy skills in addition to language therapy.
Assuntos
Transtornos da Articulação/diagnóstico , Dislexia/diagnóstico , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Fonética , Pré-Escolar , Formação de Conceito , Feminino , Humanos , Testes de Linguagem , Masculino , Rememoração Mental , Leitura , Fatores de Risco , Percepção da Fala , RedaçãoRESUMO
The development and dissemination of culturally relevant health care information has traditionally taken a "top-down" approach. Governmental funding agencies and research institutions have too often dictated the importance and focus of health-related research and information dissemination. In addition, the digital divide has affected rural communities in such a way that their members often do not possess the knowledge or experience necessary to use technological resources. And, even when they do, their skills may be limited, adequate only for implementing applications and programs designed by others who live and work outside of these communities. This need became the driving force in the creation of the Native Telehealth Outreach and Technical Assistance Program. The goal of the program is to equip Native community members, at both the lay and professional levels, with the means to use technology to address tribal health care needs. The transfer of relevant technical knowledge and skills enables participants to develop projects which enhance the community-wide dissemination of health care information. Nine community health advocates and professionals participated in the initial cohort. Eight of the participants successfully developed multimedia-based projects including Web sites, interactive CD-ROMs, and video focusing on a variety of health concerns. At the conclusion of the 18-month program period, projects were disseminated throughout rural communities. The NTOTAP staff continues to evaluate the use of these projects and their benefits within the rural communities.
Assuntos
Serviços de Saúde Comunitária/organização & administração , Educação em Saúde/métodos , Educação em Saúde/organização & administração , Serviços de Saúde do Indígena/organização & administração , Multimídia , Desenvolvimento de Programas/métodos , Telemedicina/organização & administração , Colorado , Agentes Comunitários de Saúde/educação , Relações Comunidade-Instituição , Feminino , Humanos , Masculino , Mentores , Objetivos Organizacionais , Avaliação de Programas e Projetos de SaúdeRESUMO
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.
Assuntos
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
Kaposi sarcoma is the most common cancer among HIV-infected individuals and one of the most common cancers in sub-Saharan Africa. Kaposi sarcoma lesions are highly vascularized, and comprised of spindle-shaped tumor cells. Kaposi sarcoma herpesvirus is etiologically linked to Kaposi sarcoma development and encodes genes that contribute to cellular transformation, evasion of apoptosis, aberrant angiogenesis and an inflammatory tumor microenvironment. The study of Kaposi sarcoma herpesvirus-driven malignancies has provided a model of oncogenesis and identified some of the key steps and, therefore, therapeutic targets of Kaposi sarcoma development. However, current Kaposi sarcoma treatments are not specific and rely on reconstitution of the immune system and systemic administration of cytotoxic agents. Recent studies have demonstrated that mechanism-based therapeutics, such as vascular endothelial growth factor A or mammalian target of rapamycin inhibitors, are promising therapeutic approaches bridging basic research with clinical practice.
Assuntos
Infecções por HIV/etiologia , Infecções por HIV/terapia , Sarcoma de Kaposi/etiologia , Sarcoma de Kaposi/terapia , Antineoplásicos/uso terapêutico , Terapia Genética/métodos , Terapia Genética/tendências , Infecções por HIV/genética , Infecções por HIV/virologia , HIV-1/genética , Humanos , Sarcoma de Kaposi/genética , Sarcoma de Kaposi/virologiaRESUMO
Kaposi sarcoma-associated herpesvirus (KSHV) is etiologically linked to Kaposi sarcoma (KS), a tumor genetically akin to lymphatic endothelial cells (LECs). We obtained the immune transcriptional signature of KS and used KSHV-infected LECs (KLECs) as an in vitro model to determine the effects of KSHV on transcription and expression of genes involved in immunity. The antigen presentation, interferon (IFN) response, and cytokine transcriptomes of KLECs resemble those of KS. Transcription of genes involved in class I presentation is increased in KS and after infection of LECs, but MHC-I and ICAM-1 surface expression are down-regulated in KLECs. Inhibition of IFN induction of MHC-I transcription indicates that KSHV regulates MHC-I transcription. We show that MHC-I transcription is regulated by the KSHV-encoded viral FLICE inhibitory protein (vFLIP) and by viral IFN regulatory factor 1 (vIRF1). vFLIP up-regulates MHC-I and ICAM-1 through activation of NF-kappaB and stimulates T-cell proliferation, revealing a mechanism to prevent uncontrolled viral dissemination. In contrast, vIRF1 inhibits basal and IFN- and vFLIP-induced MHC-I transcription and surface expression through its interaction with the transcriptional coactivator p300, contributing to immune evasion. We propose that regulation of MHC-I by vFLIP and vIRF1 plays a crucial role in the host-pathogen equilibrium.
Assuntos
Apresentação de Antígeno , Proteína Reguladora de Apoptosis Semelhante a CASP8 e FADD/imunologia , Endotélio Linfático/virologia , Herpesvirus Humano 8/química , Fatores Reguladores de Interferon/imunologia , Proteínas Virais/imunologia , Células Cultivadas , Endotélio Linfático/citologia , Endotélio Linfático/imunologia , Regulação da Expressão Gênica/imunologia , Herpesvirus Humano 8/fisiologia , Antígenos de Histocompatibilidade Classe I/genética , Humanos , Molécula 1 de Adesão Intercelular/genética , NF-kappa B/fisiologia , Transcrição Gênica/imunologiaRESUMO
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.
Assuntos
Cromossomos Humanos Par 15 , Transtornos da Audição/genética , Distúrbios da Fala/genética , Transtorno Autístico/genética , Criança , Pré-Escolar , Mapeamento Cromossômico , DNA/genética , DNA/isolamento & purificação , Feminino , Humanos , Idioma , Transtornos da Linguagem/genética , Masculino , Fonética , Síndrome de Prader-Willi/genética , IrmãosRESUMO
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.
Assuntos
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
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.
Assuntos
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
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.
Assuntos
Apraxias/fisiopatologia , Idioma , Fala , Redação , Apraxias/complicações , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Transtornos da Linguagem/complicações , MasculinoRESUMO
UNLABELLED: 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.
Assuntos
Apraxias/genética , Apraxias/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Linhagem , Fenótipo , Distribuição por Sexo , Medida da Produção da FalaRESUMO
Speech-sound disorder (SSD) is a complex behavioral disorder characterized by speech-sound production errors associated with deficits in articulation, phonological processes, and cognitive linguistic processes. SSD is prevalent in childhood and is comorbid with disorders of language, spelling, and reading disability, or dyslexia. Previous research suggests that developmental problems in domains associated with speech and language acquisition place a child at risk for dyslexia. Recent genetic studies have identified several candidate regions for dyslexia, including one on chromosome 3 segregating in a large Finnish pedigree. To explore common genetic influences on SSD and reading, we examined linkage for several quantitative traits to markers in the pericentrometric region of chromosome 3 in 77 families ascertained through a child with SSD. The quantitative scores measured several processes underlying speech-sound production, including phonological memory, phonological representation, articulation, receptive and expressive vocabulary, and reading decoding and comprehension skills. Model-free linkage analysis was followed by identification of sib pairs with linkage and construction of core shared haplotypes. In our multipoint analyses, measures of phonological memory demonstrated the strongest linkage (marker D3S2465, P=5.6 x 10(-5), and marker D3S3716, P=6.8 x 10(-4)). Tests for single-word decoding also demonstrated linkage (real word reading: marker D3S2465, P=.004; nonsense word reading: marker D3S1595, P=.005). The minimum shared haplotype in sib pairs with similar trait values spans 4.9 cM and is bounded by markers D3S3049 and D3S3045. Our results suggest that domains common to SSD and dyslexia are pleiotropically influenced by a putative quantitative trait locus on chromosome 3.