Age of diagnosis for children with chromosome 15q syndromes.

ABSTRACT:

Objective

The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]).

Methods

Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences.

Results

The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with iso

SUBMITTER: Wheeler AC 

PROVIDER: S-EPMC10629121 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature