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

Abstract

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.

Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study

“…A mother mentioned concerns about the patient's relationships with others. Studies on Krabbe disease, a leukodystrophy similar to MLD, have shown a negative impact of the severe type with infantile onset on communication and school attendance [ 26 ]. Moreover, the burden of getting patients out of the house increases as their disability progresses, and they require suction and ventilators.…”

Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and their family members: a qualitative systematic review

“…In a quantitative study that determined the impact of leukodystrophy on patients’ QOL, a disease-specific QOL scale for patients with Krabbe disease was developed. 14 Another study found that mothers of patients with MLD have a lower QOL than the general population. 15 It is important to interpret the experiences of patients and their families to identify the impact and challenges of the disease on their lives.…”

“…Few quantitative studies have focused on the quality of life (QOL) of patients with MLD, ALD, or Krabbe disease and their family members. In a quantitative study that determined the impact of leukodystrophy on patients’ QOL, a disease-specific QOL scale for patients with Krabbe disease was developed 14 . Another study found that mothers of patients with MLD have a lower QOL than the general population 15 .…”

Experiences of patients and their family members with metachromatic leukodystrophy, adrenoleukodystrophy, and Krabbe disease: a qualitative systematic review protocol

“…3 In a quantitative study that determined the impact of leukodystrophy on patients' quality of life (QOL), a disease-specific QOL scale for patients with Krabbe disease was developed. 14 A study focusing on the QOL of family member of patients with MLD reported that family members, and particularly mothers, have a lower QOL than the general population. 15 However, since these diseases are rare, insufficient quantitative studies have focused on the QOL of patients and their family members.…”