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Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy.

Publication ,  Journal Article
Langan, TJ; Barczykowski, A; Jalal, K; Sherwood, L; Allewelt, H; Kurtzberg, J; Carter, RL
Published in: JIMD Rep
May 2019

OBJECTIVES: To develop a quality of life (QOL) survey for Krabbe disease (KD), and to thereby improve understanding of its phenotypic expression and response to treatment. METHODS: The survey, the Leukodystrophy Quality of Life Assessment (LQLA) and the Vineland Adaptive Behavior Scales were co-administered to 33 patients or their caretakers. These included the phenotypes of early infantile KD (EIKD; 0-6 months old at onset), late infantile cases (LIKD; 7-12 months old at onset), and cases that emerged after 12 months old, late onset (LOKD). The sample included cases with and without stem cell transplantation (SCT). Reliability and concurrent validity were assessed for overall and subscale scores. Analysis of variance tested differences in QOL between phenotypes and transplant groups (none, pre-, post-symptom). RESULTS: Good concurrent validity with the Vineland was shown for total, communication, daily activity, social, and motor scales and good reliability was observed. LOKD cases had better communication skills than either EIKD or LIKD and better overall QOL than EIKD. Analyses of individual items showed that communication items, mostly, contributed significantly to phenotype differences. Presymptomatic SCT significantly improved QOL compared to postsymptomatic SCT or no treatment. Presymptomatically treated patients had near-normal total scores. CONCLUSIONS: The LQLA is valid and reliable. Despite small sample size, phenotypic demarcation was determined to be due mainly to differences in communication skills. There was a relative enhancement of QOL in LOKD patients, and in those who had presymptomatic SCT. These results apply to the current controversy about recommendations for newborn screening for this condition.

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Published In

JIMD Rep

DOI

ISSN

2192-8304

Publication Date

May 2019

Volume

47

Issue

1

Start / End Page

47 / 54

Location

United States

Related Subject Headings

  • 3202 Clinical sciences
 

Citation

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ICMJE
MLA
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Langan, T. J., Barczykowski, A., Jalal, K., Sherwood, L., Allewelt, H., Kurtzberg, J., & Carter, R. L. (2019). Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy. JIMD Rep, 47(1), 47–54. https://doi.org/10.1002/jmd2.12033
Langan, Thomas J., Amy Barczykowski, Kabir Jalal, Laura Sherwood, Heather Allewelt, Joanne Kurtzberg, and Randy L. Carter. “Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy.JIMD Rep 47, no. 1 (May 2019): 47–54. https://doi.org/10.1002/jmd2.12033.
Langan TJ, Barczykowski A, Jalal K, Sherwood L, Allewelt H, Kurtzberg J, et al. Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy. JIMD Rep. 2019 May;47(1):47–54.
Langan, Thomas J., et al. “Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy.JIMD Rep, vol. 47, no. 1, May 2019, pp. 47–54. Pubmed, doi:10.1002/jmd2.12033.
Langan TJ, Barczykowski A, Jalal K, Sherwood L, Allewelt H, Kurtzberg J, Carter RL. Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy. JIMD Rep. 2019 May;47(1):47–54.

Published In

JIMD Rep

DOI

ISSN

2192-8304

Publication Date

May 2019

Volume

47

Issue

1

Start / End Page

47 / 54

Location

United States

Related Subject Headings

  • 3202 Clinical sciences