title: Activity of daily living for Morquio A syndrome.
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.
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Medical Informatics, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan.
authors.forename: Eriko
authors.initials: E
authors.lastname: Yasuda
authors.affiliation: Department of Hospital Pharmacy, University Hospital, Kanazawa University, Kanazawa, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Suzuki
authors.affiliation: Medical Education Development Center, Gifu University, Gifu, Japan.
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Shimada
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Kazuki
authors.initials: K
authors.lastname: Sawamoto
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: William G
authors.initials: WG
authors.lastname: Mackenzie
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Mary C
authors.initials: MC
authors.lastname: Theroux
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Christian
authors.initials: C
authors.lastname: Pizarro
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Li
authors.initials: L
authors.lastname: Xie
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Freeman
authors.initials: F
authors.lastname: Miller
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Tariq
authors.initials: T
authors.lastname: Rahman
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Heidi H
authors.initials: HH
authors.lastname: Kecskemethy
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Nagao
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Thierry
authors.initials: T
authors.lastname: Morlet
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Thomas H
authors.initials: TH
authors.lastname: Shaffer
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Ryukyu, Japan.
authors.forename: Yasutsugu
authors.initials: Y
authors.lastname: Chinen
authors.affiliation: Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan.
authors.forename: Hiromasa
authors.initials: H
authors.lastname: Yabe
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Akemi
authors.initials: A
authors.lastname: Tanaka
authors.affiliation: Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
authors.forename: Haruo
authors.initials: H
authors.lastname: Shintaku
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
authors.forename: Kenji E
authors.initials: KE
authors.lastname: Orii
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
authors.forename: Koji O
authors.initials: KO
authors.lastname: Orii
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Robert W
authors.initials: RW
authors.lastname: Mason
authors.affiliation: Department of Pediatrics, Saint Louis University, St. Louis, MO, USA; Department of Biochemistry and Molecular Biology, Saint Louis University, St. Louis, MO, USA.
authors.forename: Adriana M
authors.initials: AM
authors.lastname: Montaño
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address: orii.tadao@camel.plala.or.jp.
authors.forename: Tadao
authors.initials: T
authors.lastname: Orii
authors.affiliation: Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address: stomatsu@nemours.org.
authors.forename: Shunji
authors.initials: S
authors.lastname: Tomatsu
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D003071:Cognition; D015331:Cohort Studies; D056947:Enzyme Replacement Therapy; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D009068:Movement; D009085:Mucopolysaccharidosis IV / Q000534:rehabilitation* / Q000601:surgery*; D012720:Severity of Illness Index; D011795:Surveys and Questionnaires; D016896:Treatment Outcome
keywords: ADL; ERT; HSCT; MPS IVA; Surgical intervention