Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo.

ABSTRACT: Screening for fragile X syndrome (FXS) is essential in children with developmental delay or intellectual disability (ID). In addition, using clinical screening checklists remains of high interest in resource-limited settings. We aimed to gain insight into the prevalence of FXS and the distribution of CGG alleles and to evaluate the usefulness of three checklists in specialized institutions in Kinshasa, DR Congo. We recruited 80 males and 25 females from six specialized institutions in Kinshasa and administered a questionnaire comprising items from the following FXS checklists: Hagerman, Maes, and Guruju. FMR1 CGG repeats were assessed for every patient. About 37% of patients were referable for FX testing based on Hagerman's checklist, 35% for Maes', and 43.80% for Guruju's, but none of the

SUBMITTER: Lumaka A 

PROVIDER: S-EPMC6325043 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature