Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Laura Ann AdangSamuel GroeschelChloe GrzybRussell D'AielloFrancesco GavazziOmar SherbiniNowa BronnerAkshilkumar PatelAriel VincentAnjana SevagamoorthySylvia MutuaKayla MuirheadJohanna SchmidtAmy PizzinoEmily YuDanielle JinFlorian EichlerJamie L FraserLisa EmrickKeith Van HarenJean-Martin BoulangerMaura RuzhnikovMichel SylvainCam-Tu Émilie NguyenAna PoticStephanie KellerAli FatemiEloise UebergangMichele PoePouneh Amir YazdaniJohn BernatKristen LindstromJoshua L BonkowskyGenevieve BernardChloe A StutterdPaul OrchardAshish O GuptaMerete LjungbergSabine GroenborgAlberto ZambonSara LocatelliFrancesca FumagalliSaskia ElguenChristiane KehrerIngeborg Krägeloh-MannJustine ShultsAdeline VanderverMaria L EscolarPublished in: Molecular genetics and metabolism (2024)
Early developmental delay precedes regression in a subset of children affected by LI-MLD, defining the onset of neurologic dysfunction earlier than previously appreciated. The use of realworld data prior to diagnosis revealed an early deviation from typical development. Close monitoring for early developmental delay in presymptomatic individuals may help in earlier diagnosis with important consequences for treatment decisions.