Activity of daily living for Morquio A syndrome

The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire...

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Published inMolecular genetics and metabolism Vol. 118; no. 2; pp. 111 - 122
Main Authors Yasuda, Eriko, Suzuki, Yasuyuki, Shimada, Tsutomu, Sawamoto, Kazuki, Mackenzie, William G., Theroux, Mary C., Pizarro, Christian, Xie, Li, Miller, Freeman, Rahman, Tariq, Kecskemethy, Heidi H., Nagao, Kyoko, Morlet, Thierry, Shaffer, Thomas H., Chinen, Yasutsugu, Yabe, Hiromasa, Tanaka, Akemi, Shintaku, Haruo, Orii, Kenji E., Orii, Koji O., Mason, Robert W., Montaño, Adriana M., Fukao, Toshiyuki, Orii, Tadao, Tomatsu, Shunji
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.06.2016
Subjects
Activities of Daily Living
ADL
Adolescent
Adult
Body Mass Index
Child
Child, Preschool
Cognition
Cohort Studies
Enzyme Replacement Therapy
ERT
Female
Hematopoietic Stem Cell Transplantation
HSCT
Humans
Infant
Movement
MPS IVA
Mucopolysaccharidosis IV - rehabilitation
Mucopolysaccharidosis IV - surgery
Severity of Illness Index
Surgical intervention
Surveys and Questionnaires
Treatment Outcome
MPS IVA
AIDHC
C6S
ERT
KS
ADL
GAG
Surgical intervention
GALNS
MPS
LSD
HSCT
BMI
Online AccessGet full text

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Abstract The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three domains: “Movement,” “Movement with cognition,” and “Cognition.” Each domain has four subcategories rated on a 5-point scale based on the level of assistance. The questionnaire was collected from 145 healthy controls and 82 patients with MPS IVA. The patient cohort consisted of 63 severe and 17 attenuated phenotypes (2 were undefined); 4 patients treated with hematopoietic stem cell transplantation (HSCT), 33 patients treated with enzyme replacement therapy (ERT) for more than a year, and 45 untreated patients. MPS IVA patients show a decline in ADL scores after 10years of age. Patients with a severe phenotype have a lower ADL score than healthy control subjects, and lower scores than patients with an attenuated phenotype in domains of “Movement” and “Movement with cognition.” Patients, who underwent HSCT and were followed up for over 10years, had higher ADL scores and fewer surgical interventions than untreated patients. ADL scores for ERT patients (2.5years follow-up on average) were similar with the-age-matched controls below 10years of age, but declined in older patients. Surgical frequency was higher for severe phenotypic patients than attenuated ones. Surgical frequency for patients treated with ERT was not decreased compared to untreated patients. In conclusion, we have shown the utility of the proposed ADL questionnaire and frequency of surgical interventions in patients with MPS IVA to evaluate the clinical severity and therapeutic efficacy compared with age-matched controls. •ADL questionnaire distinguishes patients from age-matched controls.•Patients with severe forms provide broader ADL scores that decline with age.•HSCT patients have a better ADL compared with untreated patients.•Tracheal surgery improves ADL score markedly.•HSCT patients require less frequent surgical interventions.
AbstractList The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three domains: "Movement," "Movement with cognition," and "Cognition." Each domain has four subcategories rated on a 5-point scale based on the level of assistance. The questionnaire was collected from 145 healthy controls and 82 patients with MPS IVA. The patient cohort consisted of 63 severe and 17 attenuated phenotypes (2 were undefined); 4 patients treated with hematopoietic stem cell transplantation (HSCT), 33 patients treated with enzyme replacement therapy (ERT) for more than a year, and 45 untreated patients. MPS IVA patients show a decline in ADL scores after 10years of age. Patients with a severe phenotype have a lower ADL score than healthy control subjects, and lower scores than patients with an attenuated phenotype in domains of "Movement" and "Movement with cognition." Patients, who underwent HSCT and were followed up for over 10years, had higher ADL scores and fewer surgical interventions than untreated patients. ADL scores for ERT patients (2.5years follow-up on average) were similar with the-age-matched controls below 10years of age, but declined in older patients. Surgical frequency was higher for severe phenotypic patients than attenuated ones. Surgical frequency for patients treated with ERT was not decreased compared to untreated patients. In conclusion, we have shown the utility of the proposed ADL questionnaire and frequency of surgical interventions in patients with MPS IVA to evaluate the clinical severity and therapeutic efficacy compared with age-matched controls.
The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three domains: "Movement," "Movement with cognition," and "Cognition." Each domain has four subcategories rated on a 5-point scale based on the level of assistance. The questionnaire was collected from 145 healthy controls and 82 patients with MPS IVA. The patient cohort consisted of 63 severe and 17 attenuated phenotypes (2 were undefined); 4 patients treated with hematopoietic stem cell transplantation (HSCT), 33 patients treated with enzyme replacement therapy (ERT) for more than a year, and 45 untreated patients. MPS IVA patients show a decline in ADL scores after 10 years of age. Patients with a severe phenotype have a lower ADL score than healthy control subjects, and lower scores than patients with an attenuated phenotype in domains of "Movement" and "Movement with cognition." Patients, who underwent HSCT and were followed up for over 10 years, had higher ADL scores and fewer surgical interventions than untreated patients. ADL scores for ERT patients (2.5 years follow-up on average) were similar with the-age-matched controls below 10 years of age, but declined in older patients. Surgical frequency was higher for severe phenotypic patients than attenuated ones. Surgical frequency for patients treated with ERT was not decreased compared to untreated patients. In conclusion, we have shown the utility of the proposed ADL questionnaire and frequency of surgical interventions in patients with MPS IVA to evaluate the clinical severity and therapeutic efficacy compared with age-matched controls.
The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three domains: “Movement,” “Movement with cognition,” and “Cognition.” Each domain has four subcategories rated on a 5-point scale based on the level of assistance. The questionnaire was collected from 145 healthy controls and 82 patients with MPS IVA. The patient cohort consisted of 63 severe and 17 attenuated phenotypes (2 were undefined); 4 patients treated with hematopoietic stem cell transplantation (HSCT), 33 patients treated with enzyme replacement therapy (ERT) for more than a year, and 45 untreated patients. MPS IVA patients show a decline in ADL scores after 10years of age. Patients with a severe phenotype have a lower ADL score than healthy control subjects, and lower scores than patients with an attenuated phenotype in domains of “Movement” and “Movement with cognition.” Patients, who underwent HSCT and were followed up for over 10years, had higher ADL scores and fewer surgical interventions than untreated patients. ADL scores for ERT patients (2.5years follow-up on average) were similar with the-age-matched controls below 10years of age, but declined in older patients. Surgical frequency was higher for severe phenotypic patients than attenuated ones. Surgical frequency for patients treated with ERT was not decreased compared to untreated patients. In conclusion, we have shown the utility of the proposed ADL questionnaire and frequency of surgical interventions in patients with MPS IVA to evaluate the clinical severity and therapeutic efficacy compared with age-matched controls. •ADL questionnaire distinguishes patients from age-matched controls.•Patients with severe forms provide broader ADL scores that decline with age.•HSCT patients have a better ADL compared with untreated patients.•Tracheal surgery improves ADL score markedly.•HSCT patients require less frequent surgical interventions.
The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three domains: “Movement,” “Movement with cognition,” and “Cognition.” Each domain has four subcategories rated on a 5-point scale based on the level of assistance. The questionnaire was collected from 145 healthy controls and 82 patients with MPS IVA. The patient cohort consisted of 63 severe and 17 attenuated phenotypes (2 were undefined); 4 patients treated with hematopoietic stem cell transplantation (HSCT), 33 patients treated with enzyme replacement therapy (ERT) for more than a year, and 45 untreated patients. MPS IVA patients show a decline in ADL scores after 10 years of age. Patients with a severe phenotype have a lower ADL score than healthy control subjects, and lower scores than patients with an attenuated phenotype in domains of “Movement” and “Movement with cognition.” Patients, who underwent HSCT and were followed up for over 10 years, had higher ADL scores and fewer surgical interventions than untreated patients. ADL scores for ERT patients (2.5 years follow-up on average) were similar with the-age-matched controls below 10 years of age, but declined in older patients. Surgical frequency was higher for severe phenotypic patients than attenuated ones. Surgical frequency for patients treated with ERT was not decreased compared to untreated patients. In conclusion, we have shown the utility of the proposed ADL questionnaire and frequency of surgical interventions in patients with MPS IVA to evaluate the clinical severity and therapeutic efficacy compared with age-matched controls.
Author Orii, Tadao
Nagao, Kyoko
Orii, Koji O.
Rahman, Tariq
Orii, Kenji E.
Mackenzie, William G.
Miller, Freeman
Morlet, Thierry
Shintaku, Haruo
Yabe, Hiromasa
Chinen, Yasutsugu
Suzuki, Yasuyuki
Shimada, Tsutomu
Yasuda, Eriko
Shaffer, Thomas H.
Sawamoto, Kazuki
Tanaka, Akemi
Mason, Robert W.
Xie, Li
Theroux, Mary C.
Kecskemethy, Heidi H.
Fukao, Toshiyuki
Montaño, Adriana M.
Pizarro, Christian
Tomatsu, Shunji
AuthorAffiliation b Department of Medical Informatics, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan
e Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Ryukyu, Japan
f Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan
a Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA
c Department of Hospital Pharmacy, University Hospital, Kanazawa University, Kanazawa, Japan
g Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan
h Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan
i Department of Pediatrics, Saint Louis University, St. Louis, MO, USA
d Medical Education Development Center, Gifu University, Gifu, Japan
j Department of Biochemistry and Molecular Biology, Saint Louis University, St. Louis, MO, USA
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ID FETCH-LOGICAL-c492t-ab6432ccf7deb4b125edfd821b8612c237bd5903cf98c394b9fc6a1cf11682ac3
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ISSN 1096-7192
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Fri Aug 16 02:49:59 EDT 2024
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Issue 2
Keywords MPS IVA
AIDHC
C6S
ERT
KS
ADL
GAG
Surgical intervention
GALNS
MPS
LSD
HSCT
BMI
Language English
License Copyright © 2016. Published by Elsevier Inc.
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content type line 23
The first three authors should be regarded as joint first authors.
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  year: 2016
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PublicationDecade 2010
PublicationPlace United States
PublicationPlace_xml – name: United States
PublicationTitle Molecular genetics and metabolism
PublicationTitleAlternate Mol Genet Metab
PublicationYear 2016
Publisher Elsevier Inc
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Snippet The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The...
The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The...
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StartPage 111
SubjectTerms Activities of Daily Living
ADL
Adolescent
Adult
Body Mass Index
Child
Child, Preschool
Cognition
Cohort Studies
Enzyme Replacement Therapy
ERT
Female
Hematopoietic Stem Cell Transplantation
HSCT
Humans
Infant
Movement
MPS IVA
Mucopolysaccharidosis IV - rehabilitation
Mucopolysaccharidosis IV - surgery
Severity of Illness Index
Surgical intervention
Surveys and Questionnaires
Treatment Outcome
Title Activity of daily living for Morquio A syndrome
URI https://dx.doi.org/10.1016/j.ymgme.2016.04.005
https://www.ncbi.nlm.nih.gov/pubmed/27161890
https://search.proquest.com/docview/1791718436
https://search.proquest.com/docview/1808648293
https://pubmed.ncbi.nlm.nih.gov/PMC5016714
Volume 118
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