Functional independence of Taiwanese patients with mucopolysaccharidoses

Lee, Chung Lin; Lin, Hui-Chen; Chuang, Chih Kuang; Chiu, Huei Ching; Tu, Ru Yi; Huang, You Hsin; Hwu, Wuh‐Liang; Tsai, Fuu Jen; Chiu, Pao Chin; Niu, Dau Ming; Chen, Yann Jang; Chao, Mei; Chang, Tung Ming; Lin, Jainn-Jim; Chang, Chia Ying; Kao, Yu-Chia

doi:10.1002/mgg3.790

Cited by 7 publications

(9 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Essa ferramenta possui 18 itens, divididos em 2 domínios: domínio motor, compostos por 13 itens que avaliam as dimensões funcionais de autocuidado, controle de esfíncter, transferência e locomoção; e domínio cognitivo em que as dimensões de comunicação e cognição social são avaliadas por meio de 5 itens17. Assim como na WeeFIM a pontuação dos itens da MIF segue uma escala ordinal de dependência graduada em 7 níveis, em que 1 corresponde à assistência total, e 7, à independência completa 16,17 . Para o presente estudo, os dados utilizados para avaliar a mobilidade foram os referentes aos domínios transferências e locomoção.…”

Section: Métodosunclassified

“…O PEDI, apresenta boas propriedades psicométricas, além de ser padronizado e utilizar de relatos de pais e cuidadores por meio de uma entrevista estruturada 15 . Já as escalas WeeFIM e MIF, aplicada em crianças acima de 7 anos, são métodos extremamente utilizados para a avaliação funcional pediátrica, o que inclui a mobilidade, e têm demonstrado confiabilidade e validade, para crianças com e sem deficiência 16,17 . Para Lin et al 18 , a escala WeeFIM apresenta um sistema bastante versátil, adequando-se a uma grande variedade de pacientes e diagnósticos.…”

Section: Introductionunclassified

“…Para Lin et al 18 , a escala WeeFIM apresenta um sistema bastante versátil, adequando-se a uma grande variedade de pacientes e diagnósticos. Destaca-se que a WeeFIM é dividida em três domínios -autocuidado, mobilidade e cognição -, enquanto a MIF avalia as atividades de autocuidado, transferência, locomoção, controle esfincteriano, comunicação e cognição social 16,17 .…”

Section: Introductionunclassified

See 2 more Smart Citations

Projeto Dança Em Cadeira De Rodas E Mobilidade De Crianças E Adolescentes Com Deficiência Física: Série De Casos

Machado

Mendes

Simoni

et al. 2021

Cad Edu Saude e Fis

View full text Add to dashboard Cite

O objetivo foi observar a contribuição de um projeto de dança em cadeira de rodas na mobilidade de crianças e adolescentes com deficiência física. Série de casos de natureza qualitativa com 8 crianças com deficiência física entre 5 e 18 anos participantes do projeto Rodopios e Piruetas de uma clínica escola de fisioterapia. A avaliação foi realizada antes do início do projeto e com 4 meses; utilizou-se de domínios específicos das escalas Medida de Independência Funcional para crianças (WeeFIM) e Medida de Independência Funcional (MIF), aplicada em crianças acima de 7 anos, para avaliar a mobilidade. O projeto é realizado uma vez por semana com duração de duas horas, com enfoque lúdico por meio de movimentos criativos e dança. Realizou-se análise descritiva dos dados. Verificou-se que a maioria das crianças era do sexo feminino e com paralisia cerebral. A WeeFIM foi realizada em três crianças com idade inferior a 7 anos, e observou-se que um participante obteve evolução na mobilidade entre as avaliações, enquanto as demais mantiveram o score inicial. O mesmo resultado foi observado nas outras cinco crianças submetidas à avaliação da MIF. A melhora na habilidade de realizar transferência da cadeira para a cadeira de rodas foi o item responsável pela melhora da mobilidade. A dança em cadeira de rodas contribuiu para locomoção e transferência de crianças e adolescentes com deficiência física, facilitando, assim, mobilidade.

show abstract

Section: Métodosunclassified

Section: Introductionunclassified

See 1 more Smart Citation

Projeto Dança Em Cadeira De Rodas E Mobilidade De Crianças E Adolescentes Com Deficiência Física: Série De Casos

Machado

Mendes

Simoni

et al. 2021

Cad Edu Saude e Fis

View full text Add to dashboard Cite

show abstract

“…Chronic and progressive signs and symptoms may emerge in patients from early to late childhood or even in early adulthood. MPS has a broad spectrum of clinical presentations with varied severity and prognosis for different types and individuals [2][3][4][5][6]. MPS disorders are autosomal recessive, except for MPS II (Hunter syndrome), which has X-linked inheritance and mainly affects males.…”

Section: Introductionmentioning

confidence: 99%

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019)

Lin

Lee

Chang

et al. 2020

Preprint

Self Cite

View full text Add to dashboard Cite

Background Mucopolysaccharidoses (MPSs) are a group of inherited metabolic diseases, which are characterized by the accumulation of glycosaminoglycans, and eventually lead to the progressive damage of various tissues and organs.Methods An epidemiological study of MPS in Taiwan was performed using multiple sources. The survival and diagnostic age for different types of MPS between 1985 and 2019 were evaluated.Results Between 1985 and 2019, there were 175 patients diagnosed with MPS disorders in the Taiwanese population, with a median diagnostic age of 3.9 years. There were 21 (12%), 78 (45%), 33 (19%), 32 (18%) and 11 (6%) patients diagnosed with MPS I, II, III, IV and VI, respectively, with median diagnostic ages of 1.5, 3.8, 4.7, 4.5 and 3.7 years, respectively. Diagnosis of MPS patients was significantly earlier in recent decades (p<0.01). Pilot newborn screening programs for MPS I, II, VI, IVA, and IIIB were progressively introduced in Taiwan from 2016, and 48% (16/33) of MPS patients diagnosed between 2016 and 2019 were diagnosed by one of these screening programs, with a median diagnostic age at 0.2 years. For patients born between 2016 and 2019, up to 94% (16/17) were diagnosed with MPS via the newborn screening programs. At the time of this study, 81 patients had passed away with a median age at death of 15.6 years. Age at diagnosis was positively correlated with life expectancy (p<0.01). Life expectancy also significantly increased between 1985 and 2019, however this increase was gradual (p<0.01).Conclusions The life expectancy of Taiwanese patients with MPS has improved in recent decades and patients are being diagnosed earlier. Because of the progressive nature of the disease, early diagnosis by newborn screening programs and timely implementation of early therapeutic interventions may lead to better clinical outcomes.

show abstract

“…The clinical presentations of MPS include coarse facial features, developmental delay, corneal clouding, adenotonsillar hypertrophy, hearing loss, upper airway obstruction, pulmonary function impairment, obstructive sleep apnea, cardiovascular disease, hepatosplenomegaly, short stature, joint stiffness, and skeletal deformities (dysostosis multiplex). The clinical signs and symptoms in these patients are chronic and progressive, and may present from early to late childhood or even in early adulthood, and the severity and prognosis vary among different types with a wide spectrum of clinical severity [2][3][4][5][6][7][8][9][10]. All types of MPS exhibit autosomal recessive inheritance except MPS II (Hunter syndrome), which is transmitted in an X-linked recessive mode and thus predominantly affects males.…”

Section: Introductionmentioning

confidence: 99%

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

Lin

Lee

et al. 2019

Diagnostics

View full text Add to dashboard Cite

Background: The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) and which eventually cause progressive damage to various tissues and organs. We developed a feasible MPS screening algorithm and established a cross-specialty collaboration platform between medical geneticists and other medical specialists based on at-risk criteria to allow for an earlier confirmative diagnosis of MPS. Methods: Children (<19 years of age) with clinical signs and symptoms compatible with MPS were prospectively enrolled from pediatric clinics between July 2013 and June 2018. Urine samples were collected for a non-specific total GAG analysis using the dimethylmethylene blue (DMB) spectrophotometric method, and the quantitation of three urinary GAGs (dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS)) was performed by liquid chromatography/tandem mass spectrometry (LC-MS/MS). The subjects with elevated urinary GAG levels were recalled for leukocyte enzyme activity assay and genetic testing for confirmation. Results: Among 153 subjects enrolled in this study, 13 had a confirmative diagnosis of MPS (age range, 0.6 to 10.9 years—three with MPS I, four with MPS II, five with MPS IIIB, and one with MPS IVA). The major signs and symptoms with regards to different systems recorded by pediatricians at the time of the decision to test for MPS were the musculoskeletal system (55%), followed by the neurological system (45%) and coarse facial features (39%). For these 13 patients, the median age at the diagnosis of MPS was 2.9 years. The false negative rate of urinary DMB ratio using the dye-based method for these 13 patients was 31%, including one MPS I, two MPS IIIB, and one MPS IVA. However, there were no false negative results with urinary DS, HS and KS using the MS/MS-based method. Conclusions: We established an at-risk population screening program for MPS by measuring urinary GAG fractionation biomarkers using the LC-MS/MS method. The program included medical geneticists and other medical specialists to increase awareness and enable an early diagnosis by detecting MPS at the initial onset of clinical symptoms.

show abstract

Functional independence of Taiwanese patients with mucopolysaccharidoses

Cited by 7 publications

References 24 publications

Projeto Dança Em Cadeira De Rodas E Mobilidade De Crianças E Adolescentes Com Deficiência Física: Série De Casos

Projeto Dança Em Cadeira De Rodas E Mobilidade De Crianças E Adolescentes Com Deficiência Física: Série De Casos

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019)

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

Contact Info

Product

Resources

About