Characteristics Of Japanese Patients With X-Linked Adrenoleukodystrophy And Concerns Of Their Families From The 1st Registry System

Objective: Early diagnosis is critical in achieving the best outcome following hematopoietic stern cell transplantation (HSCT) for X-linked adrenoleukodystrophy (X-ALD). We used a questionnaire to gather detailed clinical information and information regarding the anxieties of patients' families using the registry system for X-ALD.Methods: We and the patients' families established the registry system for X-ALD in Japan. We created a questionnaire and distributed it to the patients' families.Results: Questionnaire data from 28 patients were collected. The median age at enrollment was 14.5 years. The most common type of X-ALD was the childhood cerebral form (22 patients, 78.6%). The median age at symptom onset was 7.4 years. Frequently reported initial observations were behavior or character changes (46.4%), gait disturbances (42.9%), strabismus (39.3%), reduced academic ability (32.1%), failing vision (21.4%), a positive family history (21.4%), clumsiness (17.9%), hearing disturbances (17.9%), convulsions (10.7%), and suspected psychiatric disorders (10.7%). The median duration from symptom onset to diagnosis was 12 months. The families of 12 patients (42.9%) with X-ALD who received HSCT were satisfied regardless of its effectiveness. Common concerns of patients' families were worries regarding heritability of X-ALD (78.6%), present symptoms (57.1%), frequent hospital visits (42.9%), problems at school or work (42.9%), economic issues (35.7%), and limited information regarding X-ALD (32.1%).Conclusion: This is the first study clarifying the clinical characteristics of X-ALD and the concerns of patients' families using the registry system. Investigation of rare diseases using registry systems is very valuable for the understanding of such conditions. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.