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Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints.
van der Lee, Johanna H; Morton, Jonathan; Adams, Heather R; Clarke, Lorne; Eisengart, Julie B; Escolar, Maria L; Giugliani, Roberto; Harmatz, Paul; Hogan, Melissa; Kearney, Shauna; Muenzer, Joseph; Muschol, Nicole; Rust, Stewart; Saville, Benjamin R; Semrud-Clikeman, Margaret; Wang, Raymond; Shapiro, Elsa.
Afiliação
  • van der Lee JH; Knowledge Institute of the Dutch Association of Medical Specialists, Utrecht, Netherlands; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Pediatric Clinical Research Office, Amsterdam, Netherlands.
  • Morton J; Comradis, Oxford, UK.
  • Adams HR; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
  • Clarke L; Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Eisengart JB; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
  • Escolar ML; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  • Giugliani R; Department of Genetics, UFRGS, and Medical Genetics Service, HPCA, Porto Alegre, Brazil.
  • Harmatz P; UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
  • Hogan M; Doulots LLC, Thompson Station, TN, USA.
  • Kearney S; Clinical Paediatric Psychology, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
  • Muenzer J; Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Muschol N; Department of Pediatric, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
  • Rust S; Paediatric Psychosocial Department, Royal Manchester Children's Hospital, Manchester, UK.
  • Saville BR; Berry Consultants LLC, Austin, TX, USA; Vanderbilt University School of Medicine, Nashville, TN, USA.
  • Semrud-Clikeman M; Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Wang R; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, USA.
  • Shapiro E; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA; Shapiro Neuropsychology Consulting LLC, Portland, OR, USA. Electronic address: shapi004@umn.edu.
Mol Genet Metab ; 131(1-2): 181-196, 2020.
Article em En | MEDLINE | ID: mdl-32917509
Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of the precise natural history of these conditions and to design effective clinical trials to evaluate the impact of therapies on the brain. In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. Based on an International MPS Consensus Conference held in February 2020, this article provides updated consensus recommendations and expands the objectives to include approaches for assessing behavioral and social-emotional state, caregiver burden and quality of life in patients with all mucopolysaccharidoses.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Modalidades de Fisioterapia / Mucopolissacaridoses / Doenças do Sistema Nervoso Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Modalidades de Fisioterapia / Mucopolissacaridoses / Doenças do Sistema Nervoso Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda