Diretrizes para a saúde da criança: o desenvolvimento da linguagem em foco

Lamego, Denyse Telles da Cunha; Moreira, Martha Cristina Nunes; Bastos, Olga Maria

doi:10.1590/1413-81232018239.04892016

Cited by 6 publications

(3 citation statements)

References 11 publications

(15 reference statements)

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“…TRPM1 has also been implicated in the clinical expression of the 15q13.3 deletion. TRPM1 belongs to the family of transient receptor potential channels that encode a calcium permanent channel, and it is related to bipolar cells (Audo et al, 2009;Coe et al, 2014;Lamego, Moreira, & Bastos, 2018). It has been implicated in visual impairment in children with a homozygous 15q13.3 deletion.…”

Section: Resultsmentioning

confidence: 99%

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

Pavone

Ruggieri

Marino

et al. 2020

Molec Gen & Gen Med

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This is an open access article under the terms of the Creat ive Commo ns Attri butio n-NonCo mmerc ial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. Abstract Background: Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1-BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3-BP5). The deletion at BP4-BP5 is the rearrangement most frequently observed compared to other known deletions in BP3-BP5 and BP3-BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speech disorders. Of note, no overt clinical difference among each group of BP region deletions has been recorded so far. Methods: We report on a four-member family plus an additional unrelated boy affected by a BP3-BP5 deletion that presented with typical clinical signs including speech delay and language impairment. A review of the clinical features associated with the three main groups of BP regions (BP4-BP5, BP3-BP5, and BP3-BP4) deletions is reported.Results: Array-CGH analysis revealed in the mother (case 1) and in her three children (cases 2, 3, and 4), as well as in the unrelated boy (case 5), the following rearrangement: arr (hg19) 15q13. 1-q13.3 (29.213.402-32.510.863) x1. Conclusion: This report, along with other recent observations, suggests the hypothesis that the BP region comprised between BP3 and BP5 in chromosome 15q13 is involved in several brain human dysfunctions, including impairment of the language development and, its deletion, may be directly or indirectly responsible for the speech delay and language deficit in the affected individuals. K E Y W O R D SBP3-BP5 deletion, chromosome 15 q13, developmental delay, language impairment, speech delay 2 of 11 | PAVONE Et Al.

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Section: Resultsmentioning

confidence: 99%

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

Pavone

Ruggieri

Marino

et al. 2020

Molec Gen & Gen Med

View full text Add to dashboard Cite

show abstract

“…Literature associates alterations in linguistic skills to the risk of failure in school, as well as psychosocial and emotional alterations. Hence, there's a need of effective follow-up strategies, such as scanning, evaluation and monitoring of the child's development 30,31 .…”

Section: Discussionmentioning

confidence: 99%

The influence of prematurity on the development of phonological skills

2019

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Purpose: to check the use of phonological processes in preterm infants. Methods: phonological evaluation was performed through the ABFW Child Language Test in 40 children, aged two to four years, i.e., 20 preterm and 20 full-term children, matched according to age, gender and socioeconomic level. Preterm children were evaluated at the State Center for Prevention and Rehabilitation of People with Disabilities - CEPRED; full-term children were selected and evaluated in a municipal nursery in the city of Salvador, BA, Brazil. The pertinent statistical tests were applied adopting the level of significance lower than 0.05%. Results: in the phonology test, the number of productive phonological processes not expected for the chronological age was statistically significant in the preterm group, especially syllable reduction, consonantal harmony, velar backing and liquid reduction. The high prevalence of cluster reduction and final consonant deletion, though still compatible with chronological age, shows the need to follow up the language acquisition of these children, after the age of four. Conclusion: the results evidenced the difficulty found by preterm infants in the development of phonological skills, emphasizing the importance of early diagnosis and speech-language monitoring in language acquisition.

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“…Portanto, quando alterações neurológicas, como a irritabilidade, tendem a ser um entrave para essas relações interpessoais, o cuidado integral fica prejudicado, especialmente em se tratando de crianças com menos de três anos de idade, por ser uma fase da vida tão frágil e sensível a agravos 5,23 .…”

Section: Introductionunclassified

Efeitos da terapia com cães na irritabilidade de crianças com Síndrome Congênita do Zika Vírus

Cruz

Guedes²,

Bezerra³

et al. 2023

Rev Neurocienc

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Objetivo. Identificar os efeitos da Terapia Assistida por Cães na irritabilidade de crianças com síndrome congênita do Zika Vírus. Método. Pesquisa qualitativa, realizada com seis crianças com síndrome congênita do Zika Vírus, suas mães e profissionais de uma instituição de apoio à pessoa com deficiência. Os dados foram coletados entre dezembro de 2018 e outubro de 2019, por meio de entrevista semiestruturada e videogravação durante sessões de terapia assistida por cães, conduzidas por fisioterapeutas. O material empírico foi submetido à Análise Temática Indutiva e discutido à luz da Teoria Bioecológica de Bronfenbrenner. Resultados. A Terapia Assistida por Cães reduziu a irritabilidade das crianças, tornando-as mais receptivas à interação social e ambiental, bem como mais tolerantes aos estímulos, o que possibilitou aumento no tempo da sessão de terapia. Conclusão. A Terapia Assistida por Cães para crianças com síndrome congênita do Zika Vírus proporcionou benefícios, especialmente por reduzir a irritabilidade, portanto, pode ser recomendada para estimular precocemente crianças com alterações neurológicas.

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Diretrizes para a saúde da criança: o desenvolvimento da linguagem em foco

Cited by 6 publications

References 11 publications

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

The influence of prematurity on the development of phonological skills

Efeitos da terapia com cães na irritabilidade de crianças com Síndrome Congênita do Zika Vírus

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