Dimensions of Symptom Presentation and Scholarly Representation of Young Females with Fragile X Syndrome
Year: 2018
Type: article
Study design: Systematic Review
Abstract: Females with Fragile X Syndrome (FXS), an X-linked neurodevelopmental disorder, receive little representation in scientific literature.This has resulted in inadequate developmental norms.The primary aims of this systematic review are (a) to identify the primary dimensions of symptom presentation for females with FXS and (b) to provide quantitative evidence for their underrepresentation.Twenty-four articles were reviewed for information on symptom presentation, and the sample sizes for males in females in each study were recorded.The main dimensions of symptom presentation were Intellectual Ability (IA), Autistic Features (AF), and Anxiety and Other Comorbidities (AOC).Females with FXS have symptoms of varying severity within these dimensions.The observed representation of males and females was assessed using a chi-square test of independence, with expected values based on widely accepted prevalence estimates.The results revealed significant differences between the observed and the expected values, providing evidence for the underrepresentation of females with FXS.Future studies can test the reliability of the tri-dimensional model of FXS symptomology and use larger samples of females to create accurate developmental norms for this population.
Author: Andrew N. Snell
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2982701153