Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity

doi:10.1007/8904_2015_485

. 2016:26:61-8.

doi: 10.1007/8904_2015_485. Epub 2015 Aug 25.

Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity

A Ahmed¹, K Rudser², A Kunin-Batson³, K Delaney³, C Whitley³, E Shapiro³

Affiliations

¹ Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55414, USA. ahmed306@umn.edu.
² Division of Biostatistics, University of Minnesota, Minneapolis, MN, 55414, USA.
³ Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55414, USA.

PMID: 26303610
PMCID: PMC4864710
DOI: 10.1007/8904_2015_485

Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity

A Ahmed et al. JIMD Rep. 2016.

. 2016:26:61-8.

doi: 10.1007/8904_2015_485. Epub 2015 Aug 25.

Authors

A Ahmed¹, K Rudser², A Kunin-Batson³, K Delaney³, C Whitley³, E Shapiro³

Affiliations

¹ Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55414, USA. ahmed306@umn.edu.
² Division of Biostatistics, University of Minnesota, Minneapolis, MN, 55414, USA.
³ Department of Pediatrics, University of Minnesota, Minneapolis, MN, 55414, USA.

PMID: 26303610
PMCID: PMC4864710
DOI: 10.1007/8904_2015_485

Abstract

Objectives: We quantified medical signs and symptoms to construct the Physical Symptom Score (PSS) for use in research to assess somatic disease burden in mucopolysaccharidoses (MPS) to track disease and monitor treatments. We examined scoring reliability, its concurrent validity with other measures, and relationship to age in MPS type I.

Methods: Fifty-four patients with MPS I (36 with Hurler syndrome treated with hematopoietic cell transplant and 18 with attenuated MPS I treated with enzyme replacement therapy), ages 5 to 18 years, were seen longitudinally over 5 years. The summation of frequency and severity of signs of specific organ involvement, surgeries, and hydrocephalus drawn from medical histories comprise the PSS. We examined relationship to age and to daily living skills (DLS) from the Vineland Adaptive Behavior Scale and physical quality of life from the Child Health Questionnaire (CHQ) for each group.

Results: The PSS was associated with age in both groups, indicating increase in disease burden over time. The PSS was significantly negatively associated with DLS (r = -0.48) and CHQ (r = -0.55) in the attenuated MPS I but not in the Hurler group.

Conclusions: The association of somatic disease burden with physical quality of life and ability to carry out daily living skills suggests that the PSS will be useful in the measurement of disease and treatment effects in the attenuated MPS I group. Earlier treatment with transplant and differing parental expectations are possible explanations for its lack of association with other outcomes necessitating an adaptation for Hurler syndrome in the future.

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Figures

**Fig. 1**
Association of PSS with age among Hurler and attenuated MPS I groups

**Fig. 2**
Association of PSS with CHQ-PhS among Hurler and attenuated MPS I groups

**Fig. 3**
Association of PSS with Vineland DLS among Hurler and attenuated MPS I groups

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References

1. Ahmed A, Whitley CB, Cooksley R et al (2014a) Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome. Mol Genet Metab 111(2):123–127 - PMC - PubMed
1. Ahmed A, Kunin-Batson A, Redtree E, Whitley C, Shapiro E. MPS (mucopolysaccharidosis) specific physical symptom score – development, reliability and validity. Mol Genet Metab. 2014;111(2):S17–S18. doi: 10.1016/j.ymgme.2013.11.014. - DOI
1. Beesley CE, Meaney CA, Greenland G, et al. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet. 2001;109:503–511. doi: 10.1007/s004390100606. - DOI - PubMed
1. Bertola F, Filocamo M, Casati G, et al. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat. 2011;32(6):189–210. doi: 10.1002/humu.21479. - DOI - PubMed
1. Clarke LA, Heppner J (2002) Mucopolysaccharidosis Type I, (Updated 2011 Jul 21). In: Pagon RA, Adam MP, Bird TD et al (eds) Gene Reviews™ [Internet]. University of Washington, Seattle. 1993–2013. http://www.ncbi.nlm.nih.gov/books/NBK1162/

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[1] Ahmed A, Whitley CB, Cooksley R et al (2014a) Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome. Mol Genet Metab 111(2):123–127 - PMC - PubMed

[2] Ahmed A, Whitley CB, Cooksley R et al (2014a) Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome. Mol Genet Metab 111(2):123–127 - PMC - PubMed

[3] Ahmed A, Kunin-Batson A, Redtree E, Whitley C, Shapiro E. MPS (mucopolysaccharidosis) specific physical symptom score – development, reliability and validity. Mol Genet Metab. 2014;111(2):S17–S18. doi: 10.1016/j.ymgme.2013.11.014. - DOI

[4] Ahmed A, Kunin-Batson A, Redtree E, Whitley C, Shapiro E. MPS (mucopolysaccharidosis) specific physical symptom score – development, reliability and validity. Mol Genet Metab. 2014;111(2):S17–S18. doi: 10.1016/j.ymgme.2013.11.014. - DOI

[5] Beesley CE, Meaney CA, Greenland G, et al. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet. 2001;109:503–511. doi: 10.1007/s004390100606. - DOI - PubMed

[6] Beesley CE, Meaney CA, Greenland G, et al. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet. 2001;109:503–511. doi: 10.1007/s004390100606. - DOI - PubMed

[7] Bertola F, Filocamo M, Casati G, et al. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat. 2011;32(6):189–210. doi: 10.1002/humu.21479. - DOI - PubMed

[8] Bertola F, Filocamo M, Casati G, et al. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat. 2011;32(6):189–210. doi: 10.1002/humu.21479. - DOI - PubMed

[9] Clarke LA, Heppner J (2002) Mucopolysaccharidosis Type I, (Updated 2011 Jul 21). In: Pagon RA, Adam MP, Bird TD et al (eds) Gene Reviews™ [Internet]. University of Washington, Seattle. 1993–2013. http://www.ncbi.nlm.nih.gov/books/NBK1162/

[10] Clarke LA, Heppner J (2002) Mucopolysaccharidosis Type I, (Updated 2011 Jul 21). In: Pagon RA, Adam MP, Bird TD et al (eds) Gene Reviews™ [Internet]. University of Washington, Seattle. 1993–2013. http://www.ncbi.nlm.nih.gov/books/NBK1162/

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Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity

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Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity

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