Avaliação do desempenho motor em crianças com mucopolissacaridose II

Rocha, Julie Souza de Medeiros; Bonorandi, Alessandra Dounis; Oliveira, Leilane Silva de; Silva, Maria Natália Santos da; Silva, Viviane Ferreira da

doi:10.4322/cto.2012.040

Cited by 5 publications

(8 citation statements)

References 7 publications

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“…The involvement of self-care categories should be highlighted. Individuals with MPS have movement limitations and flexural contractures of the joints affecting especially knees, hips, elbows, wrists and fingers of the hands, leading to self-care activities impairments [22]. Rocha and colleagues emphasize in their study that the loss of muscle strength, especially in the flexor and extensor muscles of the fingers and forearm pronators and supinators, also hinders manual skills and, consequently, self-care [22].…”

Section: Discussionmentioning

confidence: 99%

Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series

Fleming

Ribeiro

Horovitz

et al. 2020

J. inborn errors metab. screen.

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Introduction: Rare health conditions as mucopolysaccharidoses (MPS) can directly influence functioning experiences. Mobility restriction, osteoarticular alterations, leads to delayed neuropsychomotor development are some of the negative impacts of MPS. Aims: The purpose of this study is to evaluate the functioning of children with MPS, from the International Classification of Functioning, Disability, and Health (ICF) perspective. Methodology: It is a case series study with a sample of 15 children and adolescents with MPS with a median age of 12 years, followed in a tertiary hospital in Rio de Janeiro, Brazil. Results: The patients were assessed by the model ICF and results were as following: regarding body functions, most categories presented slight impairment. For mobility of joints and gait, the impairment was severe. Activity and participation with most significant limitations were "learning to read/write", "read/write", "listening" and "performing multiple tasks." In self-care, the main limitations were in "drinking", "taking care of body parts" and "taking care of one's health." Also, there were restrictions on "doing household tasks", "basic economic transactions", "community living" and "religion and spirituality". Conclusion: MPS can have a significant impact in different body systems which act as limiting activities that require body mobility.

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Section: Discussionmentioning

confidence: 99%

Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series

Fleming

Ribeiro

Horovitz

et al. 2020

J. inborn errors metab. screen.

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“…In the drawing appear words like "Miracle", "God" and "Faith". leading to functional loss of thumb and claw hand (ROCHA et al, 2012). In some joints, such as knees, hips, and elbows, impairment becomes visible even in childhood (CARDOSO-SANTOS et al, 2008).…”

Section: Consequences Of the Diseasementioning

confidence: 99%

Impactos da hospitalização parcial recorrente sob a perspectiva de crianças e adolescentes com mucopolissacaridoses em um hospital pediátrico

Freitas

Agostini

2019

Cad. Bras. Ter. Ocup.

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The present study had children and adolescents as participants, between seven and twelve years old, who live with Mucopolysaccharidoses. The main objective was to understand the meaning of weekly or fortnightly hospitalization at the day hospital of a Pediatric Hospital in Rio de Janeiro from the perspective of children and adolescents with Mucopolysaccharidosis. The specific objectives were to understand how children comprehend the disease process and to discuss possible interventions of Occupational Therapy in the day hospital ambient. The research has a qualitative character and for that, the observation, interview, and the construction were mediated by productions, using the drawing or the play as relevant ways of accessing the children-juvenile contents. From the interviews and other data, an interpretative analysis was performed that resulted in the following thematic nuclei: the reorganization of the daily life of the family, the disease's consequences, the local support networks, and the influence of humanization projects and Occupational Therapy in the hospitalization process. In view of the results, it is pointed out as a conclusion that when we listening to children, it is possible to understand the dimension that the disease has on their lives and as health professionals can offer comprehensive care in the face of hospitalizations. It is believed that Occupational Therapy has much to contribute to this space while it looks at daily life and acts on human doing.

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“…Atualmente, a classificação mais utilizada divide as mucopolissacaridoses em sete subtipos, com base nos achados clínicos e testes laboratoriais (NEUFELD;MUENZER, 2001). Mesmo apresentando características crônicas e progressivas típicas, as manifestações clínicas de cada subtipo variam de acordo com a enzima que está ausente no portador da doença, o que determina o tipo de mucopolissacaridose (ROCHA et al, 2012).…”

Section: Introductionunclassified

Avaliação Da Capacidade Funcional De Adolescentes Portadores De Mucopolissacaridose Do Tipo Ii

Amaral¹,

Filho²,

Neto³

et al. 2017

Cad. Bras. Ter. Ocup.

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Resumo: Introdução: A Mucopolissacaridose II (MPS II) é uma doença genética, ligada ao cromossomo X e que afeta quase que exclusivamente o sexo masculino. Apresenta-se de forma multissistêmica, ocasionada pelo acúmulo progressivo de glicosaminoglicanos (GAG) em tecidos e órgãos, o que causa atraso no desenvolvimento neuropsicomotor, ocasionando limitações na realização de atividades de vida diária. Objetivo: O objetivo deste estudo foi a identificação das áreas de desempenho nas quais os portadores de MPS II apresentam maior comprometimento, além da análise do perfil socioeconômico da respectiva família. Método: A pesquisa se deu através de entrevista com a responsável por três irmãos adolescentes, A1-19 anos, A2-16 anos e A3-15anos, portadores de MPS II, no Estado de Alagoas. A coleta foi efetuada por profissional capacitado, utilizando a Medida de Independência Funcional (MIF) como questionário para identificação de perdas funcionais, e ABEP, para análise do perfil socioeconômico. Resultados: Os resultados apontaram que, em termos socioeconômicos, a família está inserida na classe C1. Em relação ao desempenho, verificou-se que, entre os irmãos, A1 apresenta dependência total nas habilidades investigadas; A2 apresenta perdas funcionais mais incapacitantes, necessitando de auxílio moderado, e A3 possui boa parte das habilidades físicas e cognitivas preservada, porém possui dependência modificada. Conclusão: Diante das dificuldades identificadas neste estudo, foi analisada a importância do diagnóstico precoce e das terapias de reabilitação aliadas à terapia enzimática, para que haja um retardo na progressão da doença.

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Avaliação do desempenho motor em crianças com mucopolissacaridose II

Cited by 5 publications

References 7 publications

Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series

Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series

Impactos da hospitalização parcial recorrente sob a perspectiva de crianças e adolescentes com mucopolissacaridoses em um hospital pediátrico

Avaliação Da Capacidade Funcional De Adolescentes Portadores De Mucopolissacaridose Do Tipo Ii

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