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1.
Am J Speech Lang Pathol ; 33(3): 1127-1141, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38381120

RESUMO

PURPOSE: More Than Words® (MTW) is a caregiver-mediated intervention program led by a speech-language pathologist (SLP) who teaches caregivers strategies to support their autistic child's early social communication and play development. The program includes group sessions composed of multiple families with children of varying profiles. We explored whether caregiver experiences and perceived outcomes of the virtual MTW program differed depending on the child's age and social communication stage. METHOD: As part of a program evaluation of virtual MTW delivered to over 2,000 families in Ontario, Canada, between 2020 and 2021, we randomly selected 31 families across four social communication stages and two age groups using stratified sampling (n = 4, in all but one subgroup). The Final Reflection and Evaluation form was analyzed both qualitatively and quantitatively, and a modified RE-AIM framework guided our analyses, including theme development. RESULTS: Child attributes did not appear to impact caregivers' experiences, but perceived child skill improvements varied by children's social communication stage. The majority of caregivers reported changes in how they interact with their child. Four themes emerged: (a) perceived child skill improvements differed by social communication stage, (b) caregivers gained new knowledge and strategies regardless of child attributes, (c) SLPs effectively managed families' individual needs, and (d) program components were appropriate for a variety of families. CONCLUSIONS: Findings suggest that the content taught in the MTW program was relevant for a variety of children, including those beyond the program's intended age of 5 years and under. Grouping families of children with varying profiles does not appear to negatively influence caregivers' experiences or perceived outcomes. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25237009.


Assuntos
Cuidadores , Patologia da Fala e Linguagem , Humanos , Cuidadores/psicologia , Pré-Escolar , Masculino , Feminino , Ontário , Patologia da Fala e Linguagem/métodos , Criança , Avaliação de Programas e Projetos de Saúde , Transtorno Autístico/psicologia , Transtorno Autístico/terapia , Lactente , Transtorno do Espectro Autista/terapia , Transtorno do Espectro Autista/psicologia , Adulto , Comunicação , Jogos e Brinquedos
2.
JCPP Adv ; 4(2): e12218, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38827980

RESUMO

Background: The current study sought to examine whether psycholinguistic assessments could discriminate children and adolescents with developmental language disorder (DLD) from those with attention-deficit/hyperactivity disorder (ADHD; combined or inattentive subtype) and comorbid DLD + ADHD. Methods: The Clinical Evaluation of Language Fundamentals-Screening Test (CELFST; Wiig et al., 2013), the Comprehensive Test of Phonological Processing (nonword repetition subtest; Wagner et al., 2013), and the Test of Word Reading Efficiency (sight word and phonemic decoding subtests; Torgesen et al., 2012) were examined in 441 children and adolescents between 6 and 16 years of age. Results: The presence of a language disorder (with or without ADHD) predicted poor performance across tasks. Children and adolescents with ADHD (combined vs. inattentive) only significantly differed in sight word reading, in favor of those with combined type. Measures of reading efficiency could distinguish between the two types of ADHD, but not between other groups. Interestingly, scores on the standard language screener were no worse for children with ADHD + DLD than children with DLD only. Conclusions: The combination of comorbid ADHD + DLD did not appear to be associated with lower language abilities, sight word reading, or phonemic decoding relative to DLD alone. Reading efficiency was effective in discriminating between ADHD subtypes. These findings offer valuable insights into differential diagnosis and the identification of comorbidity.

3.
Am J Speech Lang Pathol ; 32(2): 701-716, 2023 03 09.
Artigo em Inglês | MEDLINE | ID: mdl-36877765

RESUMO

PURPOSE: The COVID-19 pandemic required most pediatric rehabilitation programs to shift to a virtual delivery format without the benefits of evidence to support this transition. Our study explored families' experiences participating virtually in More Than Words, a program for parents of autistic children, with the goal of generating new evidence to inform both virtual service delivery and program development. METHOD: Twenty-one families who recently completed a virtual More Than Words program participated in a semistructured interview. The interviews were transcribed and analyzed in NVivo using a top-down deductive approach that referenced a modified Dynamic Knowledge Transfer Capacity model. RESULTS: Six themes capturing families' experiences with different components of virtual service delivery were identified: (a) experiences participating from home, (b) accessing the More Than Words program, (c) delivery methods and program materials, (d) the speech-language pathologist-caregiver relationship, (e) new skills learned, and (f) virtual program engagement. CONCLUSIONS: Most participants had a positive experience in the virtual program. Suggested areas for improvement included the time and length of intervention sessions and increasing social connections with other families. Practice considerations related to the importance of childcare during group sessions and having another adult to support the videorecording of parent-child interactions. Clinical implications include suggestions for how clinicians can create a positive virtual experience for families. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.22177601.


Assuntos
COVID-19 , Pandemias , Adulto , Humanos , Pais , Cuidadores , Aprendizagem
4.
Autism Dev Lang Impair ; 7: 23969415221115045, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36382076

RESUMO

Background and aims: Although adjustment of the environment is recommended as a support strategy in evidence-based interventions for children with autism, the impact of doing so (and the how and why) is not well understood. One essential environmental factor to consider when providing supports for preschool-aged autistic children is the play setting, specifically, the materials available in the child's play context. The aim of this study was to compare engagement states and number of utterances produced by preschool-aged autistic children within symbolic vs. gross motor play settings. Examining the relationship between gross motor play settings and children's social engagement and spoken language use is particularly important to explore for autistic children given differences in their sensory processing, motor skill development, and choice of and interaction with toys relative to neurotypical peers. Methods: Seventy autistic children aged 25-57 months were videotaped during natural play interactions with a parent. Children's social engagement and number of spoken utterances were examined in five minutes each of play with symbolic toys and play with gross motor toys. Continuous time-tagged video coding of the child-caregiver engagement states was conducted, and the child's frequency of spoken language was identified using language sample analysis. The specific variables examined were; (a) engagement with caregiver, (b) engagement with objects only, (c) unengaged (no evident engagement with objects or people), and (d) total number of spoken utterances. The relationship between play setting (symbolic vs gross motor) and child language and engagement state variables was examined with linear mixed effects modelling. Results: Significant main effects were revealed for the interaction between play setting and autistic children's engagement. Young autistic children were more likely to engage with caregivers in play environments with gross motor toys (moderate effect) and also were more likely to have periods of unengaged time (not overtly directing their attention to objects or people; small effect) in this setting. Further, when in a setting with symbolic toys, autistic children were more likely to spend their time focusing attention solely on objects (large effect). No interaction was found between play setting and total number of utterances spoken by autistic children. Conclusions and implications: This study confirmed the importance of continued research focused on understanding the relationship between children's play settings and their social engagement and language use. Although preliminary, findings support the idea that there is an interaction between preschool-aged autistic children's social engagement and their play settings. Further, our results suggest that there can be value in clinicians differentiating children's play settings (i.e., gross motor vs symbolic) when assessing and supporting social engagement capacities of young autistic children.

5.
J Speech Lang Hear Res ; 64(6S): 2363-2376, 2021 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-33769836

RESUMO

Purpose Developmental language disorder (DLD), an unexplained problem using and understanding spoken language, has been hypothesized to have an underlying auditory processing component. Auditory feedback plays a key role in speech motor control. The current study examined whether auditory feedback is used to regulate speech production in a similar way by children with DLD and their typically developing (TD) peers. Method Participants aged 6-11 years completed tasks measuring hearing, language, first formant (F1) discrimination thresholds, partial vowel space, and responses to altered auditory feedback with F1 perturbation. Results Children with DLD tended to compensate more than TD children for the positive F1 manipulation and compensated less than TD children in the negative shift condition. Conclusion Our findings suggest that children with DLD make atypical use of auditory feedback.


Assuntos
Transtornos do Desenvolvimento da Linguagem , Percepção da Fala , Criança , Retroalimentação , Humanos , Fala , Medida da Produção da Fala
6.
Am J Speech Lang Pathol ; 30(4): 1894-1908, 2021 07 14.
Artigo em Inglês | MEDLINE | ID: mdl-34061568

RESUMO

Purpose Limited evidence-based guidelines for test selection continue to result in inconsistency in test use and interpretation in speech-language pathology. A major barrier is the lack of explicit and consistent adoption of a validity framework by our field. In this viewpoint, we argue that adopting the conceptual validity framework in the Standards for Educational and Psychological Testing (American Educational Research Association et al., 2014) would support both the development of more meaningful and feasible clinical tests and more appropriate use and interpretation of tests in speech-language pathology. Method We describe and evaluate the Standards for Educational and Psychological Testing (American Educational Research Association et al., 2014) validity framework and consider its relevance to speech-language pathology. We describe how the validity framework could be integrated into clinical practice and include examples of how it could be applied to support common clinical decisions. We evaluate the costs and benefits of adopting this framework, from the perspectives of speech-language pathologists, clients, and test developers. Results The Standards' validity framework clarifies complex validity issues by shifting the focus of validity from tests to the decisions speech-language pathologists make based on test results. By focusing on decisions, the framework requires critical evaluation of test use, rather than evaluating tests against sets of criteria. Adopting this framework has the potential for appreciable improvement in the way tests are used and valued across our profession. Conclusions Speech-language pathologists, test developers, and clients will benefit from improved evidence-based assessment practices. It is recommended that regulators, test developers, professional associations, universities, and researchers adopt the framework and endorse it as best practice moving forward. This viewpoint proposes a series of first steps toward supporting uptake of the framework into research and practice.


Assuntos
Transtornos da Comunicação , Patologia da Fala e Linguagem , Prática Clínica Baseada em Evidências , Humanos , Testes Psicológicos , Estados Unidos
7.
Autism Dev Lang Impair ; 5: 2396941520917940, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-36381543

RESUMO

Background and aims: Internet usage worldwide has become a primary source of health-related information and an important resource for parents to find advice on how to promote their child's development and well-being. It is important that healthcare professionals understand what information is available to parents online to best support families and children. The current study evaluated the quality of online resources accessible for parents of children who are late to talk. Method: Fifty-four web pages were evaluated for their usability and reliability using the LIDA instrument and Health on the Net Foundation code of conduct certification, and readability using the Flesch Reading Ease Score and Flesch-Kincaid Grade Level. Origin, author(s), target audience, topics discussed, terminology used, and recommendations were also examined. Results: The majority of websites scored within the moderate range (50-90%) for total LIDA scores and usability, but scored in the low range for reliability (<50%). Significantly higher reliability scores (p < 0.001) were found for sites with Health on the Net Foundation code of conduct certification. Readability fell within the standard range. The largest proportion of websites were American, written by speech-language pathologists, with the most common topics being milestones, tips and strategies, and red flags. Discrepancies were mostly seen in terminology and misinformation, and when present, usually related to risk factors and causes. Conclusion: Prior to recommending websites to parents, health professionals should consider readability of the content, check that information is up-to-date, and confirm website sources and reputable authorship. Health professionals should also be aware of the types of unclear or inaccurate information to which parents of children who are late to talk may be exposed online.

8.
J Commun Disord ; 80: 66-80, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31085404

RESUMO

PURPOSE: This practice-based research study was a collaborative effort between researchers and speech-language pathologists (SLPs). The purpose of the study was to assess SLPs' perceptions of barriers for two new evidence-based assessment procedures to be implemented in practice. Procedures were for (1) program-level outcome monitoring and (2) individual vulnerability testing for children who are deaf or hard of hearing. These procedures were summarized for clinicians in an online learning module. METHOD: After finishing the online learning module, SLPs completed electronic surveys to identify perceived barriers to implementation. Fifty-four SLPs completed an online survey specific to the program-level outcome monitoring procedures. Twenty-five also completed an online survey specific to individual vulnerability testing. Surveys were structured using the Ottawa Model of Research Use, which assesses barriers within three components: (1) the practice environment; (2) clinicians' knowledge, skills, and beliefs; and (3) the evidence-based innovation (development and content of the online learning module). RESULTS: Most items specific to program-level outcome monitoring were rated positively. Some barriers were identified within the practice environment and evidence-based innovation, but clinicians' skills, knowledge, and beliefs were not barriers to implementation. For individual vulnerability testing, barriers were noted across all components of the Ottawa Model of Research Use. CONCLUSIONS: This work demonstrates the value of including front-line clinicians in the development of evidence-based assessment procedures. Through practice-based research, we identified SLPs' perceived barriers to implementation, allowing for modifications to be made to the online learning module prior to wider-scale implementation. The barriers identified and methods used in our work may be useful to other researchers and programs involved in developing materials and methods for the implementation of evidence-based assessment procedures.


Assuntos
Prática Clínica Baseada em Evidências , Avaliação das Necessidades , Pediatria , Patologia da Fala e Linguagem/educação , Criança , Surdez , Feminino , Humanos , Internet , Masculino , Pessoas com Deficiência Auditiva , Inquéritos e Questionários
9.
J Commun Disord ; 78: 1-17, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30605734

RESUMO

PURPOSE: Children's engagement in self-regulation is a strong and positive predictor of their social and academic success, making self-regulation an important focus for caregivers and clinicians. The aims of this article are to provide a framework for understanding self-regulation and to identify strategies speech-language pathologists can use to integrate self-regulation work into their clinical practice. METHOD: Empirically supported considerations describing the developmental progression from co-regulation to self-regulation are outlined, and the effects of stress on self-regulation are discussed. A clinical framework is provided to guide speech-language pathologists in considering stress and self-regulation in their clinical work. Strategies are provided to a) support speech-language pathologists' employment of co-regulation as a method for mitigating the negative effects that stress can have on therapeutic efforts, and to b) support children's development of skills (i.e. executive functions, metacognition) required to actively self-regulate. CONCLUSION: Given that children's ability to attain a state of regulation is integral to attending, engaging, and learning from their environment, the information provided in this tutorial can be used to inform and enhance current clinical practice.


Assuntos
Aprendizagem/fisiologia , Autocontrole/psicologia , Patologia da Fala e Linguagem , Comunicação , Humanos , Estresse Psicológico
10.
Behav Brain Res ; 359: 56-65, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30352251

RESUMO

Early childhood is a period of tremendous growth in both language ability and brain maturation. To understand the dynamic interplay between neural activity and spoken language development, we used resting-state EEG recordings to explore the relation between alpha oscillations (7-10 Hz) and oral language ability in 4- to 6-year-old children with typical development (N = 41). Three properties of alpha oscillations were investigated: a) alpha power using spectral analysis, b) flexibility of the alpha frequency quantified via the oscillation's moment-to-moment fluctuations, and c) scaling behavior of the alpha oscillator investigated via the long-range temporal correlation in the alpha-amplitude time course. All three properties of the alpha oscillator correlated with children's oral language abilities. Higher language scores were correlated with lower alpha power, greater flexibility of the alpha frequency, and longer temporal correlations in the alpha-amplitude time course. Our findings demonstrate a cognitive role of several properties of the alpha oscillator that has largely been overlooked in the literature.


Assuntos
Ritmo alfa , Encéfalo/crescimento & desenvolvimento , Encéfalo/fisiologia , Linguagem Infantil , Criança , Pré-Escolar , Humanos , Testes de Linguagem , Descanso , Processamento de Sinais Assistido por Computador
11.
Am J Speech Lang Pathol ; 28(1): 204-210, 2019 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-31072157

RESUMO

Purpose The misuse of standardized assessments has been a long-standing concern in speech-language pathology and traditionally viewed as an issue of clinician competency and training. The purpose of this article is to consider the contribution of communication breakdowns between test developers and the end users to this issue. Method We considered the misuse of standardized assessments through the lens of the 2-communities theory, in which standardized tests are viewed as a product developed in 1 community (researchers/test developers) to be used by another community (frontline clinicians). Under this view, optimal test development involves a conversation to which both parties bring unique expertise and perspectives. Results Consideration of the interpretations that standardized tests are typically validated to support revealed a mismatch between these and the interpretations and decisions that speech-language pathologists typically need to make. Test development using classical test theory, which underpins many of the tests in our field, contributes to this mismatch. Application of item response theory could better equip clinicians with the psychometric evidence to support the interpretations they desire but is not commonly found in the standardized tests used by speech-language pathologists. Conclusions Advocacy and insistence on the consideration of clinical perspectives and decision making in the test validation process is a necessary part of our role. In improving the nature of the statistical evidence reported in standardized assessments, we can ensure these tools are appropriate to fulfill our professional obligations in a clinically feasible way.


Assuntos
Testes de Linguagem/normas , Medida da Produção da Fala/normas , Patologia da Fala e Linguagem/normas , Competência Clínica , Interpretação Estatística de Dados , Prática Clínica Baseada em Evidências/métodos , Prática Clínica Baseada em Evidências/normas , Humanos , Relações Interprofissionais , Psicometria , Reprodutibilidade dos Testes , Relatório de Pesquisa/normas , Pesquisa Translacional Biomédica/normas
12.
J Speech Lang Hear Res ; 62(10): 3667-3678, 2019 10 25.
Artigo em Inglês | MEDLINE | ID: mdl-31525125

RESUMO

Purpose This study reports validity evidence for an English translation of the LittlEARS Early Speech Production Questionnaire (LEESPQ). The LEESPQ was designed to support early spoken language outcome monitoring in young children who are deaf/hard of hearing. Methods Data from 90 children with normal hearing, ages 0-18 months, are reported. Parents completed the LEESPQ in addition to a concurrent measure of spoken language development, the Receptive-Expressive Emergent Language Test-Third Edition. Normal hearing status and development were confirmed. Results Traditional scale analyses, in addition to item parameters, are reported. The LEESPQ was highly correlated with the Receptive-Expressive Emergent Language Test-Third Edition (r = .92) and age (r = .90) and had high internal consistency (Ω = 0.92). Common factor analysis revealed 2 underlying factors conceptually mapping onto items measuring vocal and symbolic development. A latent traits model was the best fit to the data, and item difficulty broadly conformed to theoretical expectations. Conclusions The present work demonstrates that the LEESPQ accurately captures early spoken language development in a typically developing group of young children. The LEESPQ holds promise as a clinically feasible, spoken language outcome monitoring tool. Future work to identify differences in performance characteristics between typically developing children and clinical populations is warranted.


Assuntos
Linguagem Infantil , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Testes de Linguagem/normas , Medida da Produção da Fala/normas , Inquéritos e Questionários/normas , Canadá , Estudos de Viabilidade , Feminino , Humanos , Lactente , Recém-Nascido , Idioma , Análise de Classes Latentes , Masculino , Reprodutibilidade dos Testes , Traduções
13.
J Speech Lang Hear Res ; 61(7): 1718-1730, 2018 07 13.
Artigo em Inglês | MEDLINE | ID: mdl-29974119

RESUMO

Purpose: Immature auditory processing has been proposed to underlie language impairments in children with developmental language disorder (DLD; also known as specific language impairment). Using newly available normative auditory evoked potential (AEP) waveforms, we estimated AEP maturity in individual children with DLD and explored whether this maturational index was related to their language abilities. Method: AEPs were elicited by 225 trials of a 490-Hz pure tone. Using intraclass correlation and our previously established normative AEP waveforms of 7- to 10-year-old children with typical development, we estimated the age equivalent of the AEPs (AEP-age) from 21 children with DLD. The relation between AEP maturity and language was explored through regression analysis. Results: AEP-age predicted 31% of the variance in the language abilities of children with DLD. The AEP-age of children with mild DLD was similar to their chronological age, whereas children with moderate-severe DLD showed, on average, a 1.3-year delay in their neural responses. AEP-age predicted receptive, but not expressive, language performance. Conclusion: Maturation in auditory neural responses is a significant predictor of language ability, particularly in children with moderate-severe DLD.


Assuntos
Envelhecimento/psicologia , Linguagem Infantil , Eletroencefalografia/estatística & dados numéricos , Potenciais Evocados Auditivos/fisiologia , Transtornos do Desenvolvimento da Linguagem/psicologia , Fatores Etários , Criança , Feminino , Humanos , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino , Análise de Regressão
14.
J Speech Lang Hear Res ; 60(11): 3310-3320, 2017 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-29086796

RESUMO

Purpose: Early auditory experiences are fundamental in infant language acquisition. Research consistently demonstrates the benefits of early intervention (i.e., hearing aids) to language outcomes in children who are deaf and hard of hearing. The nature of these benefits and their relation with prefitting development are, however, not well understood. Method: This study examined Ontario Infant Hearing Program birth cohorts to explore predictors of performance on the Preschool Language Scale-Fourth Edition at the time of (N = 47) and after (N = 19) initial hearing aid intervention. Results: Regression analyses revealed that, before the hearing aid fitting, severity of hearing loss negatively predicted 19% and 10% of the variance in auditory comprehension and expressive communication, respectively. After hearing aid fitting, children's standard scores on language measures remained stable, but they made significant improvement in their progress values, which represent individual skills acquired on the test, rather than standing relative to same-age peers. Magnitude of change in progress values was predicted by a negative interaction of prefitting language ability and severity of hearing loss for the Auditory Comprehension scale. Conclusions: These findings highlight the importance of considering a child's prefitting language ability in interpreting eventual language outcomes. Possible mechanisms of hearing aid benefit are discussed. Supplemental Materials: https://doi.org/10.23641/asha.5538868.


Assuntos
Correção de Deficiência Auditiva , Auxiliares de Audição , Transtornos da Audição/diagnóstico , Transtornos da Audição/psicologia , Desenvolvimento da Linguagem , Criança , Pré-Escolar , Seguimentos , Humanos , Lactente , Testes de Linguagem , Estudos Longitudinais , Pessoas com Deficiência Auditiva/psicologia , Pessoas com Deficiência Auditiva/reabilitação , Prognóstico , Análise de Regressão , Estudos Retrospectivos , Resultado do Tratamento
15.
Dev Disabil Res Rev ; 17(2): 130-40, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-23362032

RESUMO

Advances in the identification of the early signs of autism spectrum disorder (ASD) have occurred despite the heterogeneity of the disorder and its variable onset and presentation. Using various methodologies including retrospective studies, community samples, and sibling cohorts, researchers have identified behavioral markers of the disorder that emerge over the first 2 years of life. However, there are characteristics of ASD that overlap with other types of developmental delay (DD), which may complicate differential diagnosis in young children. A review of the literature was conducted to identify the most promising behavioral markers that distinguish ASD from other types of DD in the first 2 years of life. The review identified profiles of behavioral markers in the social realm by 12 months and in the communication realm by 18 months, which along with additional atypical motor behaviors could distinguish ASD from DD. This constellation of features coupled with a flat or declining trajectory in specific aspects of social and communication development, may assist clinicians in targeting early interventions to at-risk infants.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/psicologia , Comunicação , Deficiências do Desenvolvimento/psicologia , Diagnóstico Diferencial , Diagnóstico Precoce , Humanos , Lactente , Comportamento do Lactente/fisiologia , Atividade Motora/fisiologia , Comportamento Social
16.
Am J Med Genet A ; 140(5): 509-14, 2006 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-16470794

RESUMO

We report detailed clinical, cytogenetic, and molecular findings in a girl with a deletion of chromosome 7q31-q32. This child has a severe communication disorder with evidence of oromotor dyspraxia, dysmorphic features, and mild developmental delay. She is unable to cough, sneeze, or laugh spontaneously. Her deletion is on the paternally inherited chromosome and includes the FOXP2 gene, which has recently been associated with speech and language impairment and a similar form of oromotor dyspraxia in at least three other published cases. We hypothesize that our patient's communication disorder and oromotor deficiency are due to haploinsufficiency for FOXP2 and that her dysmorphism and developmental delay are a consequence of the absence of the other genes involved in the microdeletion. We propose that this patient, together with others reported in the literature, may define a new contiguous gene deletion syndrome encompassing the 7q31-FOXP2 region. Cytogenetic and molecular analysis of this region should be considered for other individuals displaying similar characteristics.


Assuntos
Apraxias/patologia , Deleção Cromossômica , Cromossomos Humanos Par 7/genética , Fatores de Transcrição Forkhead/genética , Transtornos da Linguagem/patologia , Distúrbios da Fala/patologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Pré-Escolar , Bandeamento Cromossômico , Mapeamento Cromossômico , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Repetições de Microssatélites/genética
17.
Am J Hum Genet ; 79(5): 965-72, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17033973

RESUMO

Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS). Of these individuals with DVD, all 12 for whom parental DNA was available showed absence of a paternal copy of FOXP2. Five other individuals with deletions of paternally inherited FOXP2 but with incomplete clinical information or phenotypes too complex to properly assess are also described. Four of the patients with DVD also meet criteria for autism spectrum disorder. Individuals with paternal UPD7 or with partial maternal UPD7 or deletion starting downstream of FOXP2 do not have DVD. Using quantitative real-time polymerase chain reaction, we show the maternally inherited FOXP2 to be comparatively underexpressed. Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development.


Assuntos
Apraxias/genética , Fatores de Transcrição Forkhead/genética , Transtorno Autístico/genética , Linhagem Celular , Cromossomos Humanos Par 7/genética , Anormalidades Craniofaciais/genética , Feminino , Retardo do Crescimento Fetal/genética , Deleção de Genes , Expressão Gênica , Impressão Genômica , Transtornos do Crescimento/genética , Humanos , Masculino , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Síndrome , Translocação Genética , Dissomia Uniparental
18.
Brain Cogn ; 56(1): 77-88, 2004 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-15380878

RESUMO

Nonverbal learning disabilities (NLD) are characterized by weaknesses in narrative discourse. Thirty-three children (M ag e= 11.7 years), 15 girls and 18 boys, listened to stories to evaluate their narrative comprehension and retelling abilities. Children with NLD (n = 11) performed as poorly as children with verbal impairment (n = 10) on all narrative measures. Compared to typical controls (n = 12), the NLD group was poorer in comprehending inferences, but not facts. They included less of the original content than controls in their story retells, and there were strong trends suggesting fewer utterances and less variety in their vocabulary usage. Results are discussed regarding their implications for understanding the neuropsychological profile of NLD.


Assuntos
Compreensão , Deficiências da Aprendizagem/diagnóstico , Memória de Curto Prazo , Narração , Percepção da Fala , Adolescente , Criança , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Estudos Prospectivos , Medida da Produção da Fala , Vocabulário
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