Table 8.

Summary of Recommendations for Neurologic Care in the Leukodystrophies.

In all disease stages of a leukodystrophy, neurologic care can be optimized but requires a multidisciplinary approach and attention to stage of severity

Palliative care involvement early in the disease course can help families with coping and support as well as creating goals of care for medical procedures and treatment.

Screening for sleep disturbances, pain, seizures, and cognitive/developmental difficulties should be completed at each visit with neurology and/or pediatrics.

Treatment for sleep disturbances should focus first on good sleep hygiene and nonpharmacologic measures, followed by use of melatonin, and then progressing to other prescriptive medications as needed. Using the side effect of sedation from drugs used to treat other symptoms is recommended to avoid polypharmacy.

Recognize that severely disabled children with cognitive impairment have a higher incidence of pain. Assessment for pain should include a thorough examination and evaluation for systemic causes of pain.

Recognize that seizures tend to be more frequent in certain leukodystrophies such as Krabbe, metachromatic leukodystrophy, Alexander disease, and Aicardi Goutières syndrome. Seizures also tend to occur more frequently in earlier-onset rather than juvenile leukodystrophies and tend to become more refractory in more advanced stages of disease.

A neurologic exam with developmental surveillance should be performed and documented at every neurologic visit. Potential contributing causes of regression beyond disease progression should be considered. Children with hearing and vision impairment should be evaluated for adaptive devices or alternative means of communication based on their cognitive abilities.