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Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact.
Moore, Katrina M; Wolf, Nicole I; Hobson, Grace; Bowyer, Kristina; McSherry, Jordan; Hartin, Gail; Wilde, Claire; Shapiro, Stacey; Frank, Jason; Manley, David; Junge, Candice.
Afiliación
  • Moore KM; Ionis Pharmaceuticals, Carlsbad, CA, USA.
  • Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Centre, Emma Children's Hospital, Amsterdam University Medical Centres, Vrije Universiteit, Amsterdam, Netherlands.
  • Hobson G; Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, The Netherlands.
  • Bowyer K; Department of Research, Nemours Alfred I duPont Hospital for Children, Wilmington, DE, USA.
  • McSherry J; Ionis Pharmaceuticals, Carlsbad, CA, USA.
  • Hartin G; Ionis Pharmaceuticals, Carlsbad, CA, USA.
  • Wilde C; Ionis Pharmaceuticals, Carlsbad, CA, USA.
  • Shapiro S; Ionis Pharmaceuticals, Carlsbad, CA, USA.
  • Frank J; ClarityCo Strategic Group, West Chester, PA, USA.
  • Manley D; ClarityCo Strategic Group, West Chester, PA, USA.
  • Junge C; PMD Foundation, Madison, NJ, USA.
J Child Neurol ; 38(1-2): 78-84, 2023 02.
Article en En | MEDLINE | ID: mdl-36744386
Pelizaeus-Merzbacher disease is a rare X-linked leukodystrophy accompanied by central nervous system hypomyelination with a spectrum of clinical phenotypes. This is the first survey of caregivers of individuals with Pelizaeus-Merzbacher disease to investigate the presenting symptoms, path to diagnosis, identity and impact of most bothersome symptoms, and needs that future treatment should address. One hundred participants completed the survey. Results from this survey demonstrate that the majority of Pelizaeus-Merzbacher disease symptoms manifest before 2 years of age and commonly include deficits in gross and fine motor skills, speech, and communication. Caregivers rated difficulty crawling, standing, or walking as the most bothersome symptoms due to Pelizaeus-Merzbacher disease, with constipation and difficulty with sleep, manual dexterity, and speech and communication rated nearly as high. The most important treatment goals for caregivers were improved mobility and communication. The survey findings present a caregiver perspective of the impact of symptoms in Pelizaeus-Merzbacher disease and provide helpful guidance to affected families, physicians, and drug developers on the often-long path to diagnosis and the unmet medical needs of this patient population.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Desmielinizantes / Enfermedades por Almacenamiento Lisosomal / Enfermedad de Pelizaeus-Merzbacher Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans Idioma: En Revista: J Child Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Desmielinizantes / Enfermedades por Almacenamiento Lisosomal / Enfermedad de Pelizaeus-Merzbacher Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans Idioma: En Revista: J Child Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos