Abstract
Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standardly treated with hematopoietic cell transplantation (HCT), which halts accumulating disease pathology and prevents early death. While norm-based data on developmental functioning in untreated children have previously demonstrated neurocognitive decline, advances in methodology for understanding the cognitive functioning of children with neurodegenerative diseases have highlighted that the previous choice of scores to report results was not ideal. Specifically, the lowest possible norm-based score is 50, which obscures the complete range of cognitive functioning at more advanced stages of neurodeterioration. To a set of cognitive data collected on a sample of untreated children, we applied a modern method of score analysis, calculating a developmental quotient based on age equivalent scores, to reveal the full range of cognitive functioning beneath this cutoff of 50, uncovering new information about the rapidity of decline and the profound impairment in these children. Among 39 observations for 32 patients with untreated H...Continue Reading
References
May 5, 1999·Current Opinion in Neurology·W KrivitE G Shapiro
Feb 19, 2008·Bone Marrow Transplantation·L E PolgreenA Petryk
May 28, 2008·Acta Paediatrica. Supplement·Holly R MartinMaria L Escolar
Jul 12, 2011·Journal of Inherited Metabolic Disease·Elizabeth A BraunlinRoberto Giugliani
Nov 6, 2013·JIMD Reports·Kathleen A DelaneyElsa G Shapiro
Nov 26, 2013·Journal of Inherited Metabolic Disease·Dakota BuhrmanMaria L Escolar
Apr 2, 2014·Genetics and Molecular Biology·Alícia Dorneles DornellesIda Vanessa Doederlein Schwartz
Aug 12, 2014·Annals of Neurology·Michele D PoeMaria L Escolar
Jan 28, 2015·Blood·Mieke AldenhovenJaap Jan Boelens
Jun 23, 2015·Molecular Genetics and Metabolism·Elsa G ShapiroChester B Whitley
Aug 26, 2015·JIMD Reports·A AhmedE Shapiro
Jan 21, 2016·The Journal of Pediatrics·Elsa G ShapiroChester B Whitley
Jan 31, 2016·JIMD Reports·A S Kunin-BatsonJ E Wraith
Apr 27, 2016·Molecular Genetics and Metabolism Reports·Alia AhmedChester B Whitley
May 3, 2016·Molecular Genetics and Metabolism·Elsa ShapiroAndrew E Mulberg
Dec 13, 2016·The Journal of Pediatrics·Lorne A ClarkeJoseph Muenzer
Jan 27, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Scott D GrosseAlex R Kemper
Feb 15, 2017·Orphanet Journal of Rare Diseases·Bridget T KielyMaria L Escolar
May 16, 2017·Molecular Genetics and Metabolism·Johanna H van der LeeElsa Shapiro
May 17, 2017·Molecular Genetics and Metabolism·Darren JanzenElsa G Shapiro
Sep 26, 2017·Intractable & Rare Diseases Research·José Francisco da Silva FrancoChong Ae Kim
Oct 7, 2017·Molecular Genetics and Metabolism Reports·Julie B EisengartChester Whitley
Mar 9, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Julie B EisengartChester B Whitley
Citations
Jul 7, 2018·Orphanet Journal of Rare Diseases·Roberto GiuglianiWilliam M Pardridge
Aug 9, 2020·Cells·Christiane S HampeR Scott McIvor
Jan 20, 2019·Orphanet Journal of Rare Diseases·Gé-Ann KuiperFrits A Wijburg
Apr 26, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Julie B EisengartTroy C Lund
Feb 2, 2021·Orphanet Journal of Rare Diseases·N GuffonA Fouilhoux
Mar 21, 2021·Molecular Genetics and Metabolism·Elsa G Shapiro, Julie B Eisengart
Jul 13, 2021·Molecular Genetics and Metabolism·Julie B EisengartCara O'Neill
Aug 8, 2021·International Journal of Molecular Sciences·Christiane S HampeR Scott McIvor