Journal
PEDIATRIC NEUROLOGY
Volume 40, Issue 1, Pages 13-18Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2008.08.011
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Funding
- Hunter's Hope Foundation.
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The objective was to identify presenting signs and symptoms, age at onset of symptoms and diagnosis, and survival in a large population of children with Krabbe disease. In 1997, Hunter's Hope Foundation began collecting clinical data on patients who had been diagnosed with Krabbe disease. As of June 2006, 334 families had returned questionnaires. Deidentified data were analyzed, including country of origin, sex, age at onset of symptoms, symptoms before diagnosis, age at diagnosis, symptoms after diagnosis, initial diagnosis, and survival. Seventy-one percent of patients developed symptoms at 0 to 6 months of age, 19% between 7 and 12 months, and 10% at 13 months + (13 months-5.5 years). The most common initial symptoms for age 0 to 12 months were crying and irritability, stiffness, and seizures. Older children were more likely to present with gait disturbances or loss of milestones. Survival differed according to age at onset of symptoms. Children with the early infantile phenotype (onset 0 to 6 months) had significantly worse survivals than either those with onset at 7 to 12 months or at 13 months to 5.5 years. Given that neither galacto-cerebrosidase activity nor mutation analysis reliably predict disease severity, the data from this study should help investigators recognize the earliest symptoms of the disease, as well as increase awareness of age of onset and natural history of the various phenotypes. (C) 2009 by Elsevier Inc. All rights reserved.
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