Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome

Orphanet Journal of Rare Diseases
E G ShapiroJulie B Eisengart

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

Jul 12, 2011·Journal of Inherited Metabolic Disease·Elizabeth A BraunlinRoberto Giugliani
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
Jun 23, 2015·Molecular Genetics and Metabolism·Elsa G ShapiroChester B Whitley
Jan 21, 2016·The Journal of Pediatrics·Elsa G ShapiroChester 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
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

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Citations

Apr 26, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Julie B EisengartTroy C Lund
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

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