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Activity of daily living for Morquio A syndrome.
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.
Affiliation
  • Yasuda E; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Medical Informatics, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan.
  • Suzuki Y; Department of Hospital Pharmacy, University Hospital, Kanazawa University, Kanazawa, Japan.
  • Shimada T; Medical Education Development Center, Gifu University, Gifu, Japan.
  • Sawamoto K; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Mackenzie WG; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Theroux MC; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Pizarro C; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Xie L; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Miller F; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Rahman T; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Kecskemethy HH; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Nagao K; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Morlet T; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Shaffer TH; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Chinen Y; Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Ryukyu, Japan.
  • Yabe H; Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, Isehara, Japan.
  • Tanaka A; Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
  • Shintaku H; Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan.
  • Orii KE; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Orii KO; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Mason RW; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Montaño AM; Department of Pediatrics, Saint Louis University, St. Louis, MO, USA; Department of Biochemistry and Molecular Biology, Saint Louis University, St. Louis, MO, USA.
  • Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
  • Orii T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address: orii.tadao@camel.plala.or.jp.
  • Tomatsu S; 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.
Mol Genet Metab ; 118(2): 111-22, 2016 06.
Article in En | MEDLINE | ID: mdl-27161890
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.
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Full text: 1 Database: MEDLINE Main subject: Activities of Daily Living / Mucopolysaccharidosis IV Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2016 Type: Article Affiliation country: Japan

Full text: 1 Database: MEDLINE Main subject: Activities of Daily Living / Mucopolysaccharidosis IV Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2016 Type: Article Affiliation country: Japan