Inherited leukodystrophies are associated with substantial morbidity and mortality in children. Overall population incidence is higher than generally appreciated (1 in 7,663 live births). Most leukodystrophies remain undiagnosed, but a logical algorithm based on prevalence could aid testing.

Background Inherited leukodystrophies are progressive, debilitating neurological disorders with few treatment options and high mortality rates. Our objective was to determine national variation in the costs for leukodystrophy patients, and to evaluate differences in their care. Methods We developed an algorithm to identify inherited leukodystrophy patients in de-identified data sets using a recursive tree model based on ICD-9 CM diagnosis and procedure charge codes. Validation of the algorithm was performed independently at two institutions, and with data from the Pediatric Health Information System (PHIS) of 43 U.S. children’s hospitals, for a seven year time period, 2004–2010. Results A recursive algorithm was developed and validated, based on six ICD-9 codes and one procedure code, that had a sensitivity up to 90% (range 61–90%) and a specificity up to 99% (range 53–99%) for identifying inherited leukodystrophy patients. Inherited leukodystrophy patients comprise 0.4% of admissions to children’s hospitals and 0.7% of costs. Over seven years these patients required $411 million of hospital care, or $131,000/patient. Hospital costs for leukodystrophy patients varied at different institutions, ranging from 2 to 15 times more than the average pediatric patient. There was a statistically significant correlation between higher volume and increased cost efficiency. Increased mortality rates had an inverse relationship with increased patient volume that was not statistically significant. Conclusions We developed and validated a code-based algorithm for identifying leukodystrophy patients in deidentified national datasets. Leukodystrophy patients account for $59 million of costs yearly at children’s hospitals. Our data highlight potential to reduce unwarranted variability and improve patient care.

Objectives To determine the costs for children with leukodystrophies, and whether high costs were associated with characteristic clinical features or resources utilization. Study design We determined health care costs in a population cohort of 122 patients with leukodystrophy including inpatient, outpatient, and emergency department use, over a 9 year period. We analyzed differences in patients with high costs (>85th percentile) and their health care utilization. Results Patients with leukodystrophy had significant variability in resource utilization, with the top 15th percentile of patients accounting for 73% of costs ($9.6 million). The majority of costs, 81% ($10.8 million), arose from inpatient hospitalization. High-cost patients had more and longer hospitalizations, increased requirements for intensive unit care and mechanical ventilation, and significantly more infections. Importantly, bone marrow transplantation did not solely account for the difference between high-cost and low-cost groups. Conclusion Inpatient hospitalization is the greatest source of health care resource utilization in patients with leukodystrophy. A minority of patients account for the majority of costs, primarily due to an increased volume of hospitalization. Strategies to improve care and reduce costs will need to reduce inpatient stays and target modifiable reasons for hospitalization.