Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

ABSTRACT:

Objective

Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disorder. Emerging therapies are most effective in the presymptomatic phase, and thus defining this window is critical. We hypothesize that early development delay may precede developmental plateau. With the advent of presymptomatic screening platforms and transformative therapies, it is essential to define the onset of neurologic disease.

Methods

The specific ages of gain and loss of developmental milestones were captured from the medical records of individuals affected by MLD. Milestone acquisition was characterized as: on target (obtained before the age limit of 90th percentile plus 2 standard deviations compared to a normative dataset), delayed (obtained after 90th percentile plus 2 standard deviati

SUBMITTER: Adang LA 

PROVIDER: S-EPMC11348664 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature