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1.
BMJ ; 385: e076885, 2024 05 22.
Artículo en Inglés | MEDLINE | ID: mdl-38777351

RESUMEN

OBJECTIVE: To evaluate the association between antibiotic use during pregnancy or early infancy and the risk of neurodevelopmental disorders in children. DESIGN: Nationwide population based cohort study and sibling analysis. SETTING: Korea's National Health Insurance Service mother-child linked database, 2008-21. PARTICIPANTS: All children live born between 2009 and 2020, followed up until 2021 to compare those with and without antibiotic exposure during pregnancy or early infancy (first six months of life). MAIN OUTCOMES MEASURES: Autism spectrum disorder, intellectual disorder, language disorder, and epilepsy in children. After 1:1 propensity score matching based on many potential confounders, hazard ratios with 95% confidence interval were estimated using Cox proportional hazard models. A sibling analysis additionally accounted for unmeasured familial factors. RESULTS: After propensity score matching, 1 961 744 children were identified for the pregnancy analysis and 1 609 774 children were identified for the early infancy analysis. Although antibiotic exposure during pregnancy was associated with increased risks of all four neurodevelopmental disorders in the overall cohort, these estimates were attenuated towards the null in the sibling analyses (hazard ratio for autism spectrum disorder 1.06, 95% confidence interval 1.01 to 1.12; intellectual disorder 1.00, 0.93 to 1.07; language disorder 1.05, 1.02 to 1.09; and epilepsy 1.03, 0.98 to 1.08). Likewise, no association was observed between antibiotic exposure during early infancy and autism spectrum disorder (hazard ratio 1.00, 0.96 to 1.03), intellectual disorder (1.07, 0.98 to 1.15), and language disorder (1.04, 1.00 to 1.08) in the sibling analyses; however, a small increased risk of epilepsy was observed (1.13, 1.09 to 1.18). The results generally remained consistent across several subgroup and sensitivity analyses, except for slightly elevated risks observed among children who used antibiotics during very early life and those who used antibiotics for more than 15 days. CONCLUSIONS: In this large cohort study, antibiotic exposure during pregnancy or early infancy was not associated with an increased risk of autism spectrum disorder, intellectual disorder, or language disorder in children. However, elevated risks were observed in several subgroups such as children using antibiotics during very early life and those with long term antibiotic use, which warrants attention and further investigation. Moreover, antibiotic use during infancy was modestly associated with epilepsy, even after control for indications and familial factors. When prescribing antibiotics to pregnant women and infants, clinicians should carefully balance the benefits of use against potential risks.


Asunto(s)
Antibacterianos , Trastorno del Espectro Autista , Epilepsia , Discapacidad Intelectual , Trastornos del Lenguaje , Efectos Tardíos de la Exposición Prenatal , Humanos , Femenino , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/inducido químicamente , Embarazo , Epilepsia/tratamiento farmacológico , Epilepsia/epidemiología , Efectos Tardíos de la Exposición Prenatal/epidemiología , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , Lactante , Antibacterianos/efectos adversos , Masculino , Discapacidad Intelectual/epidemiología , Preescolar , Trastornos del Lenguaje/epidemiología , Trastornos del Lenguaje/inducido químicamente , Estudios de Cohortes , República de Corea/epidemiología , Factores de Riesgo , Recién Nacido , Modelos de Riesgos Proporcionales , Niño , Puntaje de Propensión , Adulto
3.
Ital J Pediatr ; 50(1): 63, 2024 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-38589916

RESUMEN

BACKGROUND: This study aims to thoroughly study the connection between congenital heart disease (CHD) and neurodevelopmental disorders (NDDs) through observational and Mendelian randomization (MR) designs. METHODS: This observational study uses data from the National Survey of Children's Health (2020-2021). Multivariable logistic regression and propensity score matching (PSM) were performed to analyze the association. PSM was used to minimize bias for covariates such as age, race, gender, maternal age, birth weight, concussion or brain injury, preterm birth, cerebral palsy, Down syndrome, and other inherited conditions. In MR analyses, inverse variance-weighted measures, weighted median, and MR-Egger were employed to calculate causal effects. RESULTS: A total of 85,314 children aged 0-17 were analyzed in this study. In regression analysis, CHD (p = 0.04), the current heart condition (p = 0.03), and the severity of current heart condition (p < 0.05) had a suggestive association with speech or language disorders. The severity of current heart condition (p = 0.08) has a potential statistically significant association with attention deficit hyperactivity disorder(ADHD). In PSM samples, ADHD(p = 0.003), intellectual disability(p = 0.012), and speech or language disorders(p < 0.001) were all significantly associated with CHD. The severity of current heart condition (p < 0.001) also had a significant association with autism. MR analysis did not find causality between genetically proxied congenital cardiac malformations and the risk of NDDs. CONCLUSIONS: Our study shows that children with CHD have an increased risk of developing NDDs. Heart conditions currently and severity of current heart conditions were also significantly associated with these NDDs. In the future, we need to try more methods to clarify the causal relationship between CHD and NDDs.


Asunto(s)
Cardiopatías Congénitas , Trastornos del Lenguaje , Trastornos del Neurodesarrollo , Nacimiento Prematuro , Niño , Femenino , Humanos , Recién Nacido , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Análisis de la Aleatorización Mendeliana , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/genética , Lactante , Preescolar , Adolescente , Masculino
4.
Rev. logop. foniatr. audiol. (Ed. impr.) ; 44(1): [100473], Ene-Mar, 2024.
Artículo en Inglés | IBECS | ID: ibc-231908

RESUMEN

Precedents and objectives: Dr Donna Jackson-Maldonado, researcher and professor at the Centro de Estudios Lingüísticos y Literarios of the Universidad Autónoma de Querétaro in Mexico, left us on November 30, 2021. In this article, we review her main scientific contributions related to the three fundamental axes on which she worked: language acquisition, language disorders and language assessment. Methods and results: Dr Jackson-Maldonado's studies on language acquisition included groups of premature babies, late talkers, and typical development children in bilingual and diverse socioeconomic conditions. Moreover, she studied atypical language development in children with hearing loss, children with developmental language disorders and children with Down syndrome and other syndromes. Finally, regarding language assessment, it should be noted that she led the Mexican Spanish version of the Communicative Development Inventories (CDI) that was used as a model for later adaptations in other Romance languages. Discussion and conclusion: Dr Jackson-Maldonado's methodological approach combined rigour with a creative and innovative scientific spirit, yet she integrated theory and clinical practice from its very beginning. She left us an immense research and personal legacy that we want to honour in this paper.


Antecedentes y objetivos: La Dra. Donna Jackson-Maldonado, investigadora y profesora del Centro de Estudios Lingüísticos y Literarios de la Universidad Autónoma de Querétaro en México, nos dejó el 30 de noviembre de 2021. En este artículo repasamos sus principales aportaciones científicas relacionadas con los tres ejes fundamentales sobre los que trabajó: la adquisición del lenguaje, los trastornos del lenguaje y la evaluación del lenguaje. Método y resultados: Las investigaciones de la Dra. Jackson sobre la adquisición del lenguaje incluyeron grupos de bebés prematuros, hablantes tardíos y niños de desarrollo típico en condiciones socioeconómicas bilingües y diversas. Además, estudió el desarrollo atípico del lenguaje en niños con pérdida auditiva, con trastornos del desarrollo del lenguaje y con síndrome de Down, así como otros síndromes. Finalmente, en cuanto a la evaluación lingüística, cabe destacar que lideró la versión en español mexicano de los Inventarios de Desarrollo Comunicativo (CDI) que sirvió de modelo para posteriores adaptaciones en otras lenguas romances. Discusión y conclusiones: El enfoque metodológico de la Dra. Jackson combinó el rigor con un espíritu científico creativo e innovador, además, integró la teoría y la práctica clínica desde sus inicios. Nos dejó un inmenso legado personal e investigador que queremos honrar en este trabajo.(AU)


Asunto(s)
Humanos , Masculino , Femenino , Desarrollo del Lenguaje , Trastornos del Lenguaje , Habla , Fonoaudiología
5.
Rev. logop. foniatr. audiol. (Ed. impr.) ; 44(1): [100484], Ene-Mar, 2024.
Artículo en Español | IBECS | ID: ibc-231910

RESUMEN

Introducción: El avance de la ciencia ha permitido que los niños con discapacidad auditiva (DA) dispongan de ayudas necesarias y desarrollen una competencia comunicativo-lingüística acorde a su edad cronológica, pero existe un determinado porcentaje de estos niños con un desarrollo atípico del lenguaje. Objetivos: La finalidad de este trabajo es comprobar si el desarrollo atípico del lenguaje de niños con DA es o no una consecuencia de dicha pérdida de audición. Para ello, se evaluó en dos ocasiones el lenguaje de 12 niños con DA y, de ellos, 3 casos obtuvieron unos resultados lingüísticos que no correspondían a lo esperado por su edad cronológica, por lo que se pretende comprobar si son susceptibles de tener un déficit lingüístico no asociado al auditivo. Metodología: Se sigue una metodología mixta, se analiza de forma cualitativa y cuantitativa los resultados de diversas pruebas del lenguaje aplicadas en la reevaluación: PLON-R, BLOC-SR, PEABODY y Evaluación fonológica del habla Infantil. Los resultados se comparan con los obtenidos en la evaluación anterior y en otros estudios. Se contrastan hipótesis formuladas anteriormente discutiendo la posibilidad de un diagnóstico doble de discapacidad auditiva y un Trastorno del Desarrollo del Lenguaje (TDL). Resultados: El análisis de los resultados refleja que las puntuaciones obtenidas en la primera evaluación corresponden a las de la segunda; las puntuaciones siguen siendo bajas, evidenciándose dificultades en la morfosintaxis y en el desarrollo y uso del repertorio fonológico. Discusión y conclusiones: El porcentaje de niños con DA que no alcanzan una competencia comunicativo-lingüística acorde a su edad puede alcanzar el 30%. Los tres casos analizados presentan trastorno fonológico-sintáctico y agnosia auditivo-verbal, características compatibles a las de varios tipos de TDL...(AU)


Asunto(s)
Humanos , Masculino , Femenino , Niño , Pérdida Auditiva , Desarrollo del Lenguaje , Trastornos del Lenguaje , Personas con Deficiencia Auditiva , Habla
6.
J Exp Child Psychol ; 242: 105881, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38432098

RESUMEN

The current study examined spoken verb learning in elementary school children with language disorder (LD). We aimed to replicate verb learning deficits reported in younger children with LD and to examine whether verb instrumentality, a semantic factor reflecting whether an action requires an instrument (e.g., "to chop" is an instrumental verb), influenced verb learning. The possible facilitating effect of orthographic cues presented during training was also evaluated. In an exploratory analysis, we investigated whether language and reading skills mediated verb learning performance. General language skills and verb learning were assessed in Dutch children with LD and age-matched typically developing controls (n = 25 per group) aged 8 to 12 years (M = 9;9 [years;months], SD = 1;3). Using video animations, children learned 20 nonwords depicting actions comprising 10 instrumental and 10 noninstrumental verbs. Half of the items were trained with orthographic information present. Verb learning was assessed using an animation-word matching and animation naming task. Linear mixed-effects models showed a main effect of group for all verb learning measures, demonstrating that children with LD learned fewer words and at a slower rate than the control group. No effect of verb instrumentality, presence of orthographic information, or the included mediators was found. Our results emphasize the importance of continued vocabulary instruction in elementary school to strengthen verb encoding. Given that our findings are inconsistent with the overall literature showing an orthographic facilitation effect, future studies should investigate whether participants pay attention to the written word form in learning contexts with moving stimuli.


Asunto(s)
Trastornos del Lenguaje , Aprendizaje Verbal , Niño , Humanos , Lenguaje , Vocabulario , Aprendizaje , Semántica
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(3): 377-384, 2024 Mar 10.
Artículo en Chino | MEDLINE | ID: mdl-38448032

RESUMEN

Since genetic research entered the post-genomic era, the high heritability of language disorders has been confirmed. A variety of genetic-related diseases may cause various types of language disorders in children and/or adults. This article has summarized language disorders and their underlying mechanisms by searching the Web of Science database over the last decade, and combed the genetic researches for dyslexia, frontotemporal degeneration, specific language disorder, childhood speech apraxia and other single diseases that are strongly associated with the language disorders. It also provided a discussion over the co-occurrence of multiple diseases, with an aim to revealing the genetic association and/or pathogenetic mechanism in order to provide inspiration for the prevention, diagnosis, and treatment of language disorders.


Asunto(s)
Genómica , Trastornos del Lenguaje , Adulto , Niño , Humanos , Trastornos del Lenguaje/genética , Atrofia , Investigación Genética
8.
J Appl Genet ; 65(2): 367-373, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38418803

RESUMEN

Since its initial identification, the Forkhead Box P2 gene (FOXP2) has maintained its singular status as the archetypal monogenic determinant implicated in Mendelian forms of human speech and language impairments. Despite the passage of two decades subsequent to its discovery, extant literature remains disproportionately sparse with regard to case-specific instances and loci of mutational perturbations. The objective of the current investigation centers on furnishing an enriched delineation of both its clinical manifestations and its mutational heterogeneity. Clinical phenotypes and peripheral blood samples were assiduously amassed from familial subjects. Whole-exome sequencing and Sanger sequencing methodologies were deployed for the unambiguous identification of potential genetic variants and for corroborating their co-segregation within the family pedigree. An exhaustive review of published literature focusing on patients manifesting speech and language disorders consequent to FOXP2 genetic anomalies was also undertaken. The investigation yielded the identification of a novel heterozygous variant, c.661del (p.L221Ffs*41), localized within the FOXP2 gene in the proband, an inheritance from his symptomatic mother. The proband presented with an array of symptoms, encompassing dysarthric speech, deficits in instruction comprehension, and communicative impediments. In comparison, the mother exhibited attenuated symptoms, including rudimentary verbalization capabilities punctuated by pronounced stuttering and dysarthria. A comprehensive analysis of articles archived in the Human Gene Mutation Database (HGMD) classified under "DM" disclosed the existence of 74 patients inclusive of the subjects under current examination, sub-divided into 19 patients with null variants, 5 patients with missense variants, and 50 patients with gross deletions or complex genomic rearrangements. A conspicuous predominance of delayed speech, impoverished current verbal abilities, verbal comprehension deficits, and learning difficulties were observed in patients harboring null or missense FOXP2 variants, as compared to their counterparts with gross deletions or complex rearrangements. Developmental delays, hypotonia, and craniofacial aberrations were exclusive to the latter cohort. The elucidated findings augment the existing corpus of knowledge on the genetic architecture influencing both the proband and his mother within this specified familial context. Of critical importance, these discoveries furnish a robust molecular framework conducive to the prenatal diagnostic evaluations of prospective progeny within this familial lineage.


Asunto(s)
Trastornos del Lenguaje , Habla , Humanos , China , Factores de Transcripción Forkhead/genética , Trastornos del Lenguaje/genética , Mutación
9.
Artículo en Inglés | MEDLINE | ID: mdl-38306019

RESUMEN

Objective: Language dysfunction is one of the most common cognitive impairments in amyotrophic lateral sclerosis (ALS). Although discourse capacities are essential for daily functioning, verbal expressive language has not been widely investigated in ALS. The existing research available suggests that discourse impairments are prevalent. This study investigates verbal expressive language in people living with ALS (plwALS) in contrast to healthy controls (HC).Methods: 64 plwALS and 49 age, gender and education-matched healthy controls were ask to describe the Cookie Theft Picture Task. The recordings were analyzed for discourse productivity, discourse content, syntactic complexity, speech fluency and verb processing. We applied the Bayesian hypothesis-testing framework, incorporating the effects of dysarthria, cognitive impairment status (CIS), and premorbid crystalline verbal IQ.Results: Compared to HC, plwALS only showed a single impairment: speech dysfluency. Discourse productivity, discourse content, syntactic complexity and verb processing were not impaired. Cognition and dysarthria exceeded the influence of verbal IQ for total words spoken and content density. Cognition alone seemed to explain dysfluency. Body-agent verbs were produced at even higher rates than other verb types. For the remaining outcomes, verbal IQ was the most decisive factor.Conclusions: In contrast to existing research, our data demonstrates no discernible impairment in verbal expressive language in ALS. What our findings show to be decisive is accounting for the influence of dysarthria, cognitive impairment status, and verbal IQ as variables on spontaneous verbal expressive language. Minor impairments in verbal expressive language appear to be influenced to a greater degree by executive dysfunctioning and dysarthria than by language impairment.


Asunto(s)
Esclerosis Amiotrófica Lateral , Trastornos de la Comunicación , Trastornos del Lenguaje , Humanos , Teorema de Bayes , Disartria/etiología , Lenguaje , Pruebas Neuropsicológicas
10.
Am J Speech Lang Pathol ; 33(2): 1004-1020, 2024 Mar 07.
Artículo en Inglés | MEDLINE | ID: mdl-38354104

RESUMEN

PURPOSE: Narration within a story grammar framework requires speakers to organize characters and events logically. Despite abundant research characterizing narrative deficits following a traumatic brain injury (TBI), the evolution of narrative story grammar over the first 2 years post-TBI has rarely been explored. This study analyzed story grammar in complex narratives of adults with and without severe TBI to (a) examine between-group differences and (b) investigate longitudinal changes over the first 2 years post-TBI. METHOD: Story grammar analyses of Cinderella narratives from 57 participants with TBI and 57 participants with no brain injury yielded measures of productivity (total number of episodes, total number of story grammar elements), elaboration (total number of elaborated-complete episodes, mean number of episodic elements per episode), and completeness (total number of incomplete episodes). Mann-Whitney U tests compared measures across groups; generalized estimating equation (GEE) models identified predictors of change, including recovery time (3, 6, 9, 12, and 24 months post-TBI) and demographic/injury-related characteristics. RESULTS: Between-group differences were statistically significant for all productivity and elaboration measures at 3, 6, and 9 months post-TBI; one productivity measure and one elaboration measure at 12 months; and none of the measures at 24 months. GEE models showed significant improvements in all productivity and elaboration measures over the first 24 months post-TBI, with educational attainment and duration of posttraumatic amnesia affecting recovery. Incomplete episodes only showed between-group differences at 12 months and did not capture recovery. CONCLUSION: Productivity and elaboration are key story grammar variables that (a) differentiate complex narration in individuals with and without severe TBI and (b) capture narrative improvements over the first 2 years post-TBI. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25148999.


Asunto(s)
Lesiones Traumáticas del Encéfalo , Lesiones Encefálicas , Trastornos del Lenguaje , Adulto , Humanos , Trastornos del Lenguaje/diagnóstico , Trastornos del Lenguaje/etiología , Lesiones Traumáticas del Encéfalo/complicaciones , Lesiones Traumáticas del Encéfalo/diagnóstico , Narración , Escolaridad
11.
Autism Res ; 17(2): 419-431, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38348589

RESUMEN

Speech ability may limit spoken language development in some minimally verbal autistic children. In this study, we aimed to determine whether an acoustic measure of speech production, vowel distinctiveness, is concurrently related to expressive language (EL) for autistic children. Syllables containing the vowels [i] and [a] were recorded remotely from 27 autistic children (4;1-7;11) with a range of spoken language abilities. Vowel distinctiveness was calculated using automatic formant tracking software. Robust hierarchical regressions were conducted with receptive language (RL) and vowel distinctiveness as predictors of EL. Hierarchical regressions were also conducted within a High EL and a Low EL subgroup. Vowel distinctiveness accounted for 29% of the variance in EL for the entire group, RL for 38%. For the Low EL group, only vowel distinctiveness was significant, accounting for 38% of variance in EL. Conversely, in the High EL group, only RL was significant and accounted for 26% of variance in EL. Replicating previous results, speech production and RL significantly predicted concurrent EL in autistic children, with speech production being the sole significant predictor for the Low EL group and RL the sole significant predictor for the High EL group. Further work is needed to determine whether vowel distinctiveness longitudinally, as well as concurrently, predicts EL. Findings have important implications for the early identification of language impairment and in developing language interventions for autistic children.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastornos del Lenguaje , Niño , Humanos , Trastorno Autístico/complicaciones , Trastorno del Espectro Autista/complicaciones , Lenguaje , Habla , Fonética
12.
BMC Pregnancy Childbirth ; 24(1): 103, 2024 Feb 02.
Artículo en Inglés | MEDLINE | ID: mdl-38308208

RESUMEN

BACKGROUND: Lamotrigine has become one of the most commonly prescribed antiseizure medications (ASM) in epileptic women during pregnancy and therefore requires regular updates regarding its safety. The aim of this study was to estimate the association between in utero exposure to lamotrigine monotherapy and the occurrence of neurodevelopmental outcomes. METHODS: All comparative studies assessing the occurrence of neurodevelopmental outcomes after epilepsy-indicated lamotrigine monotherapy exposure during pregnancy were searched. First, references were identified through a snowballing approach, then, through electronic databases (Medline and Embase) from 2015 to June 2022. One investigator evaluated study eligibility and extracted data and a second independent investigator reviewed the meta-analysis (MA). A systematic review and random-effects model approach were performed using a collaborative WEB-based meta-analysis platform (metaPreg.org) with a registered protocol (osf.io/u4gva). RESULTS: Overall, 18 studies were included. For outcomes reported by at least 4 studies, the pooled odds ratios and 95% confidence interval obtained with the number of exposed (N1) and unexposed children (N0) included were: neurodevelopmental disorders as a whole 0.84 [0.66;1.06] (N1 = 5,271; N0 = 22,230); language disorders or delay 1.16 [0.67;2.00] (N1 = 313; N0 = 506); diagnosis or risk of ASD 0.97 [0.61;1.53] (N1 = at least 5,262; N0 = 33,313); diagnosis or risk of ADHD 1.14 [0.75;1.72] (N1 = at least 113; N0 = 11,530) and psychomotor developmental disorders or delay 2.68 [1.29-5.56] (N1 = 163; N0 = 220). The MA of cognitive outcomes included less than 4 studies and retrieved a significant association for infants exposed to lamotrigine younger than 3 years old but not in the older age groups. CONCLUSION: Prenatal exposure to lamotrigine monotherapy is not found to be statistically associated with neurodevelopmental disorders as a whole, language disorders or delay, diagnosis or risk of ASD and diagnosis or risk of ADHD. However, the MA found an increased risk of psychomotor developmental disorders or delay and cognitive developmental delay in less than 3 years old children. Nevertheless, these findings were based exclusively on observational studies presenting biases and on a limited number of included children. More studies should assess neurodevelopmental outcomes in children prenatally exposed to lamotrigine.


Asunto(s)
Epilepsia , Trastornos del Lenguaje , Efectos Tardíos de la Exposición Prenatal , Embarazo , Niño , Lactante , Femenino , Humanos , Anciano , Preescolar , Lamotrigina/efectos adversos , Efectos Tardíos de la Exposición Prenatal/epidemiología , Efectos Tardíos de la Exposición Prenatal/inducido químicamente , Anticonvulsivantes/efectos adversos , Epilepsia/tratamiento farmacológico , Vitaminas/uso terapéutico , Trastornos del Lenguaje/inducido químicamente , Trastornos del Lenguaje/tratamiento farmacológico
13.
J Med Genet ; 61(6): 578-585, 2024 May 21.
Artículo en Inglés | MEDLINE | ID: mdl-38290825

RESUMEN

OBJECTIVES: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome. METHOD: 103 individuals with Kleefstra syndrome (40 males, median age 9.5 years, range 1-43 years) with pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, language and non-verbal communication were assessed. Cognitive, health and neurodevelopmental data were obtained. RESULTS: The cognitive spectrum ranged from average intelligence (12/79, 15%) to severe intellectual disability (12/79, 15%). Language ability also ranged from average intelligence (10/90, 11%) to severe intellectual disability (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression. CONCLUSIONS: The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 9 , Cognición , Anomalías Craneofaciales , Discapacidad Intelectual , Fenotipo , Humanos , Masculino , Discapacidad Intelectual/genética , Discapacidad Intelectual/fisiopatología , Niño , Adolescente , Femenino , Adulto , Preescolar , Cromosomas Humanos Par 9/genética , Adulto Joven , Lactante , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/fisiopatología , Habla , Trastornos del Habla/genética , Trastornos del Habla/fisiopatología , Lenguaje , Inteligencia/genética , Trastornos del Lenguaje/genética , Trastornos del Lenguaje/fisiopatología , Cardiopatías Congénitas
14.
Lang Speech Hear Serv Sch ; 55(2): 368-380, 2024 04 11.
Artículo en Inglés | MEDLINE | ID: mdl-38295301

RESUMEN

PURPOSE: Among the varied roles and responsibilities of school-based speech-language pathologists (SLPs) are the planning and delivery of effective vocabulary intervention for students with language disorders. Despite the abundant literature regarding effective vocabulary intervention, practice patterns indicate that the research has not yet translated to practice. The purpose of this study was to examine SLPs' beliefs and expectations regarding vocabulary instruction and the content of Individualized Education Program (IEP) goals to better inform continuing education and research programs to generate lasting effects on SLP practices. METHOD: We queried a national sample of school-based SLPs via an online survey regarding their perspectives on robust vocabulary instruction, vocabulary intervention practices, and IEP goal development targeting vocabulary skills for school-age children with language disorders. RESULTS: There was consistency across the sample for SLPs' beliefs about the importance and impact of robust vocabulary instruction. However, they reflected varied expectations about the vocabulary intervention they provide. Qualitative analysis of IEP goals for vocabulary reveals the range and frequency of strategies and intervention targets as an artifact of implementation of robust vocabulary instruction. CONCLUSIONS: School-based SLPs believe that vocabulary is important and have a strong understanding of the impact robust vocabulary instruction can have on reading and writing outcomes. SLPs in this sample had varying expectations regarding the way their instruction is implemented and generalized. Implications and limitations of these results are discussed. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25077992.


Asunto(s)
Trastornos de la Comunicación , Trastornos del Lenguaje , Patología del Habla y Lenguaje , Niño , Humanos , Vocabulario , Objetivos , Habla , Patólogos , Encuestas y Cuestionarios , Percepción , Patología del Habla y Lenguaje/métodos
15.
J Intellect Disabil Res ; 68(5): 464-476, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38258970

RESUMEN

BACKGROUND: The characterisation of autism in fragile X syndrome (FXS) has been a source of controversy due to the complexity of disentangling autism traits from common features of the FXS phenotype. Autism in FXS is significantly underdiagnosed in the community, which may be partly due to insufficient clinical description of the social interaction profile of autism within the FXS phenotype. In this study, we applied a classic framework for characterising social interaction styles in autism to a sample of young adult males with FXS and co-occurring autism to enhance understanding of how the social challenges associated with autism manifest within FXS. METHODS: Participants were 41 males (M age = 18 years) with FXS and co-occurring autism. Interaction samples were coded for expression of predominately 'active' (characterised by a desire to make social approaches) or 'passive' (characterised by lack of initiation of social approach towards others) interaction profiles. Differences in the expression of phenotypic features of FXS, including anxiety, attention-deficit/hyperactivity disorder, cognitive, adaptive and language impairments and autism symptom severity, were examined across those with passive and active interaction styles. RESULTS: Approximately half of the sample was classified as active and half as passive, demonstrating diversity in the social phenotype of autism associated with FXS. The two subtypes did not differ in autism severity, anxiety or attention-deficit/hyperactivity disorder symptoms or in cognitive, adaptive or language abilities. CONCLUSIONS: This study enhances understanding of FXS-associated autism by documenting phenotypic variability in the social interaction profile in this group, with active and passive social interaction styles represented. The two social interaction styles were not associated with differential expression of common phenotypic features of FXS, suggesting similar support needs.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Síndrome del Cromosoma X Frágil , Trastornos del Lenguaje , Masculino , Humanos , Adulto Joven , Adolescente , Síndrome del Cromosoma X Frágil/complicaciones , Interacción Social , Ansiedad , Trastorno del Espectro Autista/complicaciones
16.
BMC Psychiatry ; 24(1): 45, 2024 01 12.
Artículo en Inglés | MEDLINE | ID: mdl-38216979

RESUMEN

BACKGROUND: Developmental dyslexia is characterized by reading and writing deficits that persist into adulthood. Dyslexia is strongly associated with academic underachievement, as well as impulsive, compulsive, and criminal behaviors. The aims of this study were to investigate impulsive or compulsive reading comprehension, analyzing the differences in reading errors between two distinct groups -one with Antisocial Personality Disorder (ASPD) and another with Obsessive-Compulsive Personality Disorder (OCPD) and examine their correlation with criminal behavior within a prison population. METHODS: We gathered data from 194 participants: 81 with ASPD and 113 with OCPD from a prison center. Participants took part in interviews to gather data on demographic, criminal, and behavioral data. Additionally, the participants underwent various assessments, including the International Examination for Personality Disorders; Symptom Inventory, and Battery for the Assessment of Reading Processes in Secondary and High School - Revised. RESULTS: Our analysis revealed differences in reading skills between the ASPD and OCPD groups. Specifically, the OCPD group showed poorer performance on lexical selection, semantic categorization, grammar structures, grammatical judgements, and expository comprehension when compared with the ASPD group. Conversely, the OCPD group obtained higher scores on narrative comprehension relative to the ASPD group. CONCLUSIONS: The OCPD group showed slow lexical-phonological coding and phonological activation.


Asunto(s)
Trastornos del Lenguaje , Trastorno Obsesivo Compulsivo , Espiperona/análogos & derivados , Humanos , Trastorno Obsesivo Compulsivo/epidemiología , Comprensión , Prisiones
18.
J Speech Lang Hear Res ; 67(2): 586-594, 2024 Feb 12.
Artículo en Inglés | MEDLINE | ID: mdl-38259144

RESUMEN

PURPOSE: Speech and language disorders can negatively affect preschool children's communicative participation skills. Focus on the Outcomes of Communication Under Six-34 (FOCUS-34) is a valid and reliable scale that evaluates communicative participation in preschool children with speech and language disorders. This study aimed to establish the Turkish version of FOCUS-34 (FOCUS-34-TR) and investigate its validity and reliability. METHOD: A total of 175 children with language disorders, speech sound disorders, and fluency disorders (aged 20-72 months) and their parents were included in the study. Parents were asked to complete the demographic information form, the FOCUS-34-TR scale, and the Ages and Stages Questionnaires: Social-Emotional (ASQ-SE) Turkish version. The construct validity, convergent and divergent validity, internal consistency, and test-retest reliability of the scale were investigated. RESULTS: The FOCUS-34-TR had high values for internal consistency (α = .97) and test-retest reliability (r = .95). The correlations between the FOCUS-34-TR total score and its subscales were between .77 and .90. A moderately significant negative correlation was found between the FOCUS-34-TR scale and the ASQ-SE. CONCLUSION: The Turkish version of FOCUS-34 is a valid and reliable scale that can be used in clinics and for research purposes to evaluate the communicative participation skills of Turkish-speaking preschool children with speech and language disorders.


Asunto(s)
Trastornos del Lenguaje , Lenguaje , Preescolar , Humanos , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Comunicación , Psicometría
19.
Psychiatry Res ; 333: 115752, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38280291

RESUMEN

Speech in psychosis has long been ascribed as involving 'loosening of associations'. We pursued the aim to elucidate its underlying cognitive mechanisms by analysing picture descriptions from 94 subjects (29 healthy controls, 18 participants at clinical high risk, 29 with first-episode psychosis, and 18 with chronic schizophrenia), using five language models with different computational architectures: FastText, which represents meaning non-contextually/statically; BERT, which represents contextual meaning sensitive to grammar and context; Infersent and SBERT, which provide sentential representations; and CLIP, which evaluates speech relative to a visual stimulus. These models were used to quantify semantic distances crossed between successive tokens/sentences, and semantic perplexity indicating unexpectedness in continuations. Results showed that, among patients, semantic similarity increased when measured with FastText, Infersent, and SBERT, while it decreased with CLIP and BERT. Higher perplexity was observed in first-episode psychosis. Static semantic measures were associated with clinically measured impoverishment of thought and referential semantic measures with disorganization. These patterns indicate a shrinking conceptual semantic space as represented by static language models, which co-occurs with a widening in the referential semantic space as represented by contextual models. This duality underlines the need to separate these two forms of meaning for understanding mechanisms involved in semantic change in psychosis.


Asunto(s)
Trastornos del Lenguaje , Trastornos Psicóticos , Esquizofrenia , Humanos , Semántica , Lenguaje , Trastornos Psicóticos/complicaciones , Esquizofrenia/complicaciones
20.
Int J Lang Commun Disord ; 59(1): 38-57, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-36840629

RESUMEN

BACKGROUND: The detection and description of language impairments in neurodegenerative diseases like Alzheimer's Disease (AD) play an important role in research, clinical diagnosis and intervention. Various methodological protocols have been implemented for the assessment of morphosyntactic abilities in AD; narrative discourse elicitation tasks and structured experimental tasks for production, offline and online structured experimental tasks for comprehension. Very few studies implement and compare different methodological protocols; thus, little is known about the advantages and disadvantages of each methodology. AIMS: To discuss and compare the main behavioral methodological approaches and tasks that have been used in psycholinguistic research to assess different aspects of morphosyntactic production and comprehension in individuals with AD at the word and sentence levels. METHODS: A narrative review was conducted through searches in the scientific databases Google Scholar, Scopus, Science Direct, MITCogNet, PubMed. Only studies written in English, that reported quantitative data and were published in peer-reviewed journals were considered with respect to their methodological protocol. Moreover, we considered studies that reported research on all stages of the disease and we included only studies that also reported results of a healthy control group. Studies that implemented standardized assessment tools were not considered in this review. OUTCOMES & RESULTS: The main narrative discourse elicitation tasks implemented for the assessment of morphosyntactic production include interviews, picture-description and story narration, whereas the main structured experimental tasks include sentence completion, constrained sentence production, sentence repetition and naming. Morphosyntactic comprehension in AD has been assessed with the use of structured experimental tasks, both offline (sentence-picture matching, grammaticality judgment) and online (cross-modal naming,speeded sentence acceptability judgment, auditory moving window, word detection, reading). For each task we considered studies that reported results from different morphosyntactic structures and phenomena in as many different languages as possible. CONCLUSIONS & IMPLICATIONS: Our review revealed strengths and weaknesses of these methods but also directions for future research. Narrative discourse elicitation tasks as well as structured experimental tasks have been used in a variety of languages, and have uncovered preserved morphosyntactic production but also deficits in people with AD. A combination of narrative discourse elicitation and structured production tasks for the assessment of the same morphosyntactic structure has been rarely used. Regarding comprehension, offline tasks have been implemented in various languages, whereas online tasks have been mainly used in English. Offline and online experimental paradigms have often produced contradictory results even within the same study. The discrepancy between the two paradigms has been attributed to the different working memory demands they impose to the comprehender or to the different parsing processes they tap. Strengths and shortcomings of each methodology are summarized in the paper, and comparisons between different tasks are attempted when this is possible. Thus, the paper may serve as a methodological guide for the study of morphosyntax in AD and possibly in other neurodegenerative diseases. WHAT THIS PAPER ADDS: What is already known on this subject For the assessment of morphosyntactic abilities in AD, various methodological paradigms have been implemented: narrative discourse elicitation tasks and structured experimental tasks for production, and offline and online structured experimental tasks for comprehension. Very few studies implement and compare different methodological protocols; thus, little is known about the advantages and disadvantages of each methodology. What this paper adds to existing knowledge The paper presents an overview of methodologies that have been used to assess morphosyntactic production and comprehension of people with AD at the word and sentence levels. The paper summarizes the strengths and shortcomings of each methodology, providing both the researcher and the clinician with some directions in their endeavour of investigating language in AD. Also, the paper highlights the need for further research that will implement carefully scrutinized tasks from various experimental paradigms and will explore distinct aspects of the AD patients' morphosyntactic abilities in typologically different languages. What are the potential or actual clinical implications of this work? The paper may serve as a reference point for (psycho-)linguists who wish to study morphosyntactic abilities in AD, and for speech and language therapists who might need to apply morphosyntactic protocols to their patients in order to assess them or design appropriate therapeutic interventions for production and comprehension deficits.


Asunto(s)
Enfermedad de Alzheimer , Trastornos del Lenguaje , Humanos , Enfermedad de Alzheimer/diagnóstico , Lenguaje , Trastornos del Lenguaje/diagnóstico , Trastornos del Lenguaje/etiología , Psicolingüística , Memoria a Corto Plazo
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