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Long-term adaptive functioning outcomes of children with inherited metabolic and genetic diseases treated with hematopoietic stem cell transplantation in a single large pediatric center: parents' perspective.
J Pediatr Hematol Oncol. 2011 Apr; 33(3):216-20.JP

Abstract

Over the past 2 decades, hematopoietic stem cell transplantation (HSCT) has been used as therapy for selected inherited metabolic and genetic diseases (IMGDs). The primary objective of HSCT for these disorders has been to promote long-term survival, optimize quality of life, and improve neurocognitive performance. We performed 45 HSCTs for 44 children with IMGDs (13 related and 32 unrelated); 24 HSCTs for 23 children with Hurler syndrome, 8 for malignant infantile osteopetrosis, 6 for X-linked adrenoleukodystrophy, 2 for metachromatic leukodystrophy, 2 for Gaucher disease, 1 for Ganglioside Monosialic Acid (GM) gangliosidosis, 1 for sialiosis (type 2), and 1 HSCT for Niemann-Pick type A. At a median follow-up of 7.2 years (range: 2.2 to 17.6 y) 18 of 23 patients with Hurler syndrome are alive, 15 attended regular school. Thirteen of 18 were ambulatory, 2 had mobility difficulties, and 1 uses wheelchair. For non-Hurler patients, 5 children suffered secondary graft failure and 4 of them died from progressive disease. The remaining children with osteopetrosis are alive and most children attended regular school. One out of the 4 survivors with adrenoleukodystrophy has been transferred to the adult follow-up clinic and he is in full-time employment. Parents' perspectives and expectations of HSCT in these IMGDs were positive and supportive to continue to offer HSCT for these disorders.

Authors+Show Affiliations

Division of Haematology/Oncology/BMT, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. adam.gassas@sickkids.caNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

21336168

Citation

Gassas, Adam, et al. "Long-term Adaptive Functioning Outcomes of Children With Inherited Metabolic and Genetic Diseases Treated With Hematopoietic Stem Cell Transplantation in a Single Large Pediatric Center: Parents' Perspective." Journal of Pediatric Hematology/oncology, vol. 33, no. 3, 2011, pp. 216-20.
Gassas A, Raiman J, White L, et al. Long-term adaptive functioning outcomes of children with inherited metabolic and genetic diseases treated with hematopoietic stem cell transplantation in a single large pediatric center: parents' perspective. J Pediatr Hematol Oncol. 2011;33(3):216-20.
Gassas, A., Raiman, J., White, L., Schechter, T., Clarke, J., & Doyle, J. (2011). Long-term adaptive functioning outcomes of children with inherited metabolic and genetic diseases treated with hematopoietic stem cell transplantation in a single large pediatric center: parents' perspective. Journal of Pediatric Hematology/oncology, 33(3), 216-20. https://doi.org/10.1097/MPH.0b013e3182050945
Gassas A, et al. Long-term Adaptive Functioning Outcomes of Children With Inherited Metabolic and Genetic Diseases Treated With Hematopoietic Stem Cell Transplantation in a Single Large Pediatric Center: Parents' Perspective. J Pediatr Hematol Oncol. 2011;33(3):216-20. PubMed PMID: 21336168.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Long-term adaptive functioning outcomes of children with inherited metabolic and genetic diseases treated with hematopoietic stem cell transplantation in a single large pediatric center: parents' perspective. AU - Gassas,Adam, AU - Raiman,Julian, AU - White,Laura, AU - Schechter,Tal, AU - Clarke,Joe, AU - Doyle,John, PY - 2011/2/22/entrez PY - 2011/2/22/pubmed PY - 2011/6/3/medline SP - 216 EP - 20 JF - Journal of pediatric hematology/oncology JO - J Pediatr Hematol Oncol VL - 33 IS - 3 N2 - Over the past 2 decades, hematopoietic stem cell transplantation (HSCT) has been used as therapy for selected inherited metabolic and genetic diseases (IMGDs). The primary objective of HSCT for these disorders has been to promote long-term survival, optimize quality of life, and improve neurocognitive performance. We performed 45 HSCTs for 44 children with IMGDs (13 related and 32 unrelated); 24 HSCTs for 23 children with Hurler syndrome, 8 for malignant infantile osteopetrosis, 6 for X-linked adrenoleukodystrophy, 2 for metachromatic leukodystrophy, 2 for Gaucher disease, 1 for Ganglioside Monosialic Acid (GM) gangliosidosis, 1 for sialiosis (type 2), and 1 HSCT for Niemann-Pick type A. At a median follow-up of 7.2 years (range: 2.2 to 17.6 y) 18 of 23 patients with Hurler syndrome are alive, 15 attended regular school. Thirteen of 18 were ambulatory, 2 had mobility difficulties, and 1 uses wheelchair. For non-Hurler patients, 5 children suffered secondary graft failure and 4 of them died from progressive disease. The remaining children with osteopetrosis are alive and most children attended regular school. One out of the 4 survivors with adrenoleukodystrophy has been transferred to the adult follow-up clinic and he is in full-time employment. Parents' perspectives and expectations of HSCT in these IMGDs were positive and supportive to continue to offer HSCT for these disorders. SN - 1536-3678 UR - https://www.unboundmedicine.com/medline/citation/21336168/Long_term_adaptive_functioning_outcomes_of_children_with_inherited_metabolic_and_genetic_diseases_treated_with_hematopoietic_stem_cell_transplantation_in_a_single_large_pediatric_center:_parents'_perspective_ L2 - https://doi.org/10.1097/MPH.0b013e3182050945 DB - PRIME DP - Unbound Medicine ER -