Neonatal-onset XXXX : neurologic and developmental profiles, and implications for management.

@entity1 @entity73 @entity51 @entity2421 @entity194 @entity1270 @entity302 @entity19721 @entity3263
OBJECTIVES: To document the clinical and neurodevelopmental profiles of a cohort of @entity1 with neonatal-onset @entity19721 and to determine the efficacy of current therapy with respect to outcome. METHOD: The clinical, neurologic, and developmental status of six @entity1 was prospectively evaluated during a 15-month period. Previous clinical and biochemical data were ascertained from hospital records to determine longitudinal nutritional status, number of episodes of @entity3263 with @entity1270 , and developmental performance with respect to age. RESULTS: No deaths resulted from @entity19721 since the identification of the oldest @entity1 in the series in 1980. Therapeutic intervention (e.g., gastrostomy tube feeding) resulted in improved nutritional status and possibly contributed to improved survival. All @entity1 had @entity2421 , resulting in a significant effect on motor development; however, focal @entity51 and evidence of @entity302 were absent. Mild @entity194 was evident on cranial magnetic resonance imaging in four @entity1 . All @entity1 , including two @entity1 with no significant episodes of @entity3263 and normal growth since the neonatal period, had a mild to moderate degree of @entity73 . CONCLUSIONS: The results of our study suggest that current therapy for neonatal-onset @entity19721 is associated with improved survival and nutritional status, and an absence of focal @entity51 . However, @entity2421 and @entity73 were still present, even in @entity1 with "optimal" metabolic control. Additional therapeutic advances are required to improve the developmental and cognitive outcome.
