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1.
Infant Behav Dev ; 42: 11-21, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26615329

RESUMO

The aims of this study are: (1) to describe language and temperament characteristics of one group of low risk preterm (PR) children and a group of full-term (FT) children and (2) to identify those factors which can predict language outcomes at 30 months of age, with special attention on temperament. There is evidence of differences between very or extremely PR and FT children in relation to characteristics of temperament and language development. However, not many studies have been carried out with healthy PR children. The participants were 142 low risk PR children (mean gestational age (GA): 32.60 weeks) and 49 FT children (mean GA 39.84 weeks). The temperament of the children was assessed at 10 months of age through the Infant Behavior Questionnaire-Revised (IBQ-R). At 22 months of age the cognitive development of the children was assessed through the Spanish adaptation of the Batelle Developmental Inventory (BDI). In order to assess the children's language development the Galician adaptation of the MacArthur-Bates CDI was applied at 30 months of age. In addition, socio-demographic information about the children and their families was gathered at birth. The results indicate that there were no significant differences in the language measures of interest (word production, MLU3, and sentence complexity) between groups. The only differences found between the PR and the FT children in the IBQ-R were restricted to the smiling and laughter and the fear subscales. Hierarchical regression analyses performed indicate that GA did not have any predictive effect on language measures taken at 30 months. Cognitive scores were an important predictor of language measures, although certain temperament subscales contributed in a significant way to the variance of language measures, particularly low intensity pleasure, approach, high intensity pleasure, sadness, and vocal reactivity. Therefore, extroverted (positive affectivity) temperament seems to be beneficial for language development.


Assuntos
Desenvolvimento Infantil/fisiologia , Linguagem Infantil , Comportamento do Lactente/fisiologia , Recém-Nascido Prematuro/fisiologia , Temperamento , Criança , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Testes Neuropsicológicos , Inquéritos e Questionários
2.
Am J Med Genet A ; 167A(12): 3121-9, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26332054

RESUMO

In recent years, the advent of comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays and its use as a first genetic test for the diagnosis of patients with neurodevelopmental phenotypes has allowed the identification of novel submicroscopic chromosomal abnormalities (namely, copy number variants or CNVs), imperceptible by conventional cytogenetic techniques. The 3q13.31 microdeletion syndrome (OMIM #615433) has been defined as a genomic disorder mainly characterized by developmental delay, postnatal overgrowth, hypotonia, genital abnormalities in males, and characteristic craniofacial features. Although the 3q13.31 CNVs are variable in size, a 3.4 Mb recurrently altered region at 3q13.2-q13.31 has been recently described and non-allelic homologous recombination (NAHR) mediated by flanking human endogenous retrovirus (HERV-H) elements has been suggested as the mechanism of deletion formation. We expand the phenotypic spectrum associated with this recurrent deletion performing the clinical description of a 9-year-old female patient with autistic disorder, total absence of language, intellectual disability, anxiety disorder and disruptive, and compulsive eating behaviors. The array-based molecular karyotyping allowed the identification of a de novo recurrent 3q13.2-q13.31 deletion encompassing 25 genes. In addition, we compare her clinical phenotype with previous reports of patients with neurodevelopmental and behavioral disorders and proximal 3q microdeletions. Finally, we also review the candidate genes proposed so far for these phenotypes.


Assuntos
Transtornos de Ansiedade/genética , Transtorno Autístico/genética , Deleção Cromossômica , Cromossomos Humanos Par 3/genética , Deficiência Intelectual/genética , Adulto , Transtornos de Ansiedade/patologia , Transtorno Autístico/patologia , Criança , Comorbidade , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização in Situ Fluorescente , Deficiência Intelectual/patologia , Masculino , Fenótipo , Prognóstico , Síndrome
3.
Clin Case Rep ; 3(6): 415-23, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26185640

RESUMO

We report on a male patient with severe autistic disorder, lack of oral language, and dysmorphic features who carries a rare interstitial microdeletion of 4.96 Mb at chromosome 6q14.1-q15. The patient also harbors a maternally inherited copy number gain of 1.69 Mb at chromosome Xp22.31, whose pathogenicity is under debate.

4.
Early Hum Dev ; 90(10): 649-56, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25189697

RESUMO

PURPOSE: To compare the lexical and grammatical development of a group of low risk preterm children with a group of full-term children at 10, 22, and 30 months of corrected age. In addition, the effect of possible determinant factors on linguistic development was investigated. METHOD: An initial group of 150 low-risk PR children (mean GA: 32.62) and 49 FT children (mean GA: 39.70) recruited at birth were assessed at 10, 22, and 30 months of age. Communicative and linguistic abilities were measured at these three points in time through the CDI. Cognitive development and quality of family environment of the children, among other variables, were also assessed at 22 months of age. Hierarchical regression analyses were performed in order to test those factors which may contribute to prediction of language outcomes. RESULTS: There was no significant delay in communicative, lexical or grammatical development of PR children. Even when comparisons were performed between fullterm and very preterm children, differences were not significant. Regression analyses indicate that gestures and early word comprehension predict very early word production development, but their effect disappears with time. The most important factors which predict language development at 30 months of age are previous cognitive scores and word production at 22 months of age. The results coming from group comparisons and from hierarchical regression analyses indicate that GA does not significantly affect language development from 10 to 30 months of age. CONCLUSIONS: Low risk preterm toddlers do not seem to be delayed in their linguistic development.


Assuntos
Recém-Nascido Prematuro/fisiologia , Desenvolvimento da Linguagem , Pré-Escolar , Idade Gestacional , Humanos , Lactente , Testes Neuropsicológicos , Análise de Regressão , Espanha
5.
Rev. logop. foniatr. audiol. (Ed. impr.) ; 31(3): 148-159, jul.-sept. 2011.
Artigo em Espanhol | IBECS | ID: ibc-91462

RESUMO

Esta investigación intenta: a) comparar el primer desarrollo lingüístico y comunicativo de niños prematuros (PR) con el de niños nacidos a término (NT), y b) investigar las posibles relaciones entre antecedentes biológicos, ambientales y personales y los resultados del desarrollo del lenguaje a los 10 meses. La investigación se llevó a cabo con 150 niños prematuros y un grupo control de 49 niños nacidos a término. Se estudió a los participantes cuando tenían 15 días de edad y, nuevamente, cuando tenían 10 meses (edades corregidas para los prematuros). A los 15 días se aplicó la escala Brazelton y se recogió información biomédica y de las características del ambiente. A los 10 meses se aplicó la versión gallega de los inventarios MacArthur-Bates (IDHC) (Pérez-Pereira y García, 2003; Pérez-Pereira y Resches, 2011) para evaluar su primer desarrollo lingüístico y comunicativo. Además, se han aplicado el CES-D y el IBQ-R para evaluar la depresión materna y el temperamento de los niños, respectivamente. No se han encontrado diferencias en las medidas del IDHC a los 10 meses de edad en relación con la edad gestacional o el peso al nacer. Se han hallado diferencias en el desarrollo comunicativo y lingüístico de los niños PR en relación con algunas variables, como la puntuación Apgar, la duración de la estancia en la unidad de cuidados intensivos (UCI) o la necesidad de atención psiquiátrica o psicológica de las madres. Otras variables, como el sexo o el orden de nacimiento, no parecen haber tenido ningún efecto en las puntuaciones en el IDHC. Los análisis de regresión lineal indican que el estado de salud y la educación materna parecen tener un mayor efecto predictivo en los niños PR que en los NT. Distintos factores de temperamento entran también en juego para los niños PR y NT como predictores de las habilidades lingüísticas y comunicativas (AU)


The present study intends: a) to compare first linguistic and communicative development of preterm (PR) children to that of full term (FT) children, and b) also to investigate possible relationships between biological, environmental and personal antecedents and language development outcomes at 10 months of age. The study has been carried out with 150 preterm children and a control group of 49 full term children. Participants were studied when they were 15 days old, and, again, when they were 10 months of age (corrected age for premature children). Neurobehavioral assessment and information on children's biomedical and environmental characteristics were gathered at 15 days of age. The Galician version of the MacArthur-Bates inventories (IDHC) (Pérez-Pereira & García, 2003; Pérez-Pereira & Resches, 2011) was applied when the children were 10 months of age to assess first linguistic and communicative development of the children. In addition, the CES-D and the IBQ-R were applied in order to assess the mothers' depression and children's temperament. No differences in any of the IDHC measures were found at 10 months of age in relation to birth weight and gestational age. Differences in communicative and language development of PR children were found in relation to a few variables such as Apgar scores, length of stay in the intensive care unit (ICU) or mothers receiving (or not) psychiatric attention. Gender and birth order do not seem to have any effect on IDHC scores. Linear regression analyses indicate that PR and FT children's results on the IDHC are predicted by different factors. Health and maternal education seem to have a greater predictive effect on PR children than FT children. Different temperament factors are also in play for PR and FT children as predictors of linguistic and communicative abilities (AU)


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Desenvolvimento da Linguagem , Doenças do Prematuro/fisiopatologia , Doenças do Prematuro/psicologia , Recém-Nascido Prematuro/psicologia , Comunicação , Relações Mãe-Filho , Temperamento/fisiologia , Índice de Apgar
6.
J Child Lang ; 38(1): 121-40, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20211046

RESUMO

This paper explores the concurrent and predictive validity of the long and short forms of the Galician version of the MacArthur-Bates CDI (IDHC). Forty-two Galician-speaking children were longitudinally evaluated at age 1 ; 6, 2 ; 0 and 4 ; 0. On the first two occasions, the subjects' vocabulary and grammar skills were assessed through the IDHC. Simultaneously, lexical and grammatical measures were obtained from spontaneous speech samples. Standardized measures of general cognitive abilities (WPPSI-R) and receptive and expressive language (RDLS-III) were obtained at age 4 ; 0. Results showed high and significant levels of concurrent and short-term validity of the IDHC. Strong associations were found between lexical development at age 2 ; 0 and language scores two years later. These results coincide with those obtained with other CDI versions, and suggest that the IDHC is an effective and reliable tool.


Assuntos
Desenvolvimento da Linguagem , Testes de Linguagem/normas , Fatores Etários , Linguagem Infantil , Pré-Escolar , Feminino , Humanos , Lactente , Idioma , Masculino , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Semântica , Espanha , Vocabulário
7.
J Child Lang ; 34(1): 21-52, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17340937

RESUMO

This work aims to analyse the specific contribution of social abilities (here considered as the capacity for attributing knowledge to others) in a particular communicative context. 74 normally developing children (aged 3;4 to 5;9, M = 4.6) were given two Theory of Mind (ToM) tasks, which are considered to assess increasing complexity levels of epistemic state attribution: Attribution of knowledge-ignorance (Pillow, 1989; adapted by Welch-Ross, 1997) and Understanding of False-belief (Baron Cohen, Leslie & Frith, 1985). Subjects were paired according to their age and level of performance in ToM tasks. These dyads participated in a referential communication task specially designed for this research. The resulting communicative interchanges were analysed using a three-level category system (pragmatic functions, descriptive accuracy, and ambiguity of messages). The results showed significant differences among subjects with different levels of social comprehension regarding the type of communicative resources used by them in every category level. In particular, understanding of false belief seems to be the most powerful predictor of changes in the children's development of communicative competence.


Assuntos
Cognição , Comunicação , Percepção Social , Pré-Escolar , Feminino , Humanos , Masculino
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