Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.

ABSTRACT: Malan Syndrome (MS) is an ultra-rare overgrowth genetic syndrome due to heterozygous variants or deletions in the Nuclear Factor I X (NFIX) gene. It is characterized by an unusual facial phenotype, generalized overgrowth, intellectual disability (ID) and behavioral problems. Even though limitations in cognitive and adaptive functioning have been previously described, systematic studies on MS cohorts are still lacking. Here, we aim to define the cognitive and adaptive behavior profile of MS children and adolescents, providing quantitative data from standardized evaluations. Subjects included in this study were evaluated from October 2020 to January 2022 and the study is based on a retrospective data archive: fifteen MS individuals were recruited and underwent evaluation with Wechsler

SUBMITTER: Alfieri P 

PROVIDER: S-EPMC9316998 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature