Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1

Conclusion: Although neurological symptoms may not prompt the genetic diagnosis of NPC1, the current findings support the use of a multimethod approach to repeated assessments for young children with the diagnosis because of the frequency of developmental delays or decline in multiple domains. The diagnosis of NPC1 alone should qualify children for evaluation for early intervention services and consideration of investigational therapeutic interventions.
Source: Journal of Developmental and Behavioral Pediatrics - Category: Child Development Tags: Original Article Source Type: research