Checklist assessments of FMR1 gene mutation phenotypes
1College of Nursing, The University of Oklahoma Health Sciences Center, Schusterman Center, 4502 East 41st Street, Tulsa, Oklahoma 74135-2512, USA. vanessa-johnson@ouhsc.edu
Background:
Fragile X Syndrome (FXS) caused by the mutation of the FMR1 gene, is the most common inherited cause of intellectual disability, autism, and other psychoneurological disorders. Timely identification of young children with social or emotional challenges is urged in that emotional and social problems are often overlooked until problems reach serious magnitudes. Reliable methods of screening children at an earlier age are crucial to early intervention.
Purpose:
The purpose of this article is to illuminate phenotypic characteristics of FXS and the role that the use of screening tools may play to help interdisciplinary health and human development professionals to empower parents as frontline screeners to seek early diagnosis and implement effective early intervention.
Methods:
This article reviews what is known about phenotypic characteristics of the FMR1 gene mutation. In addition, eight screening tools in use to screen for the FMR1 gene mutation are compared with the author-developed screening tool, the Biopsychiosocial Screening Inventory for Fragile X Syndrome (BIPSSI-FX).
Conclusions:
The BIPSSI-FX, a parent response tool, is a conduit by which the primary caregivers may contribute to an earlier diagnosis. It is the only parent response tool, based on research evidence, designed to tap the wealth of knowledge parents possess about subtle developmental characteristics of very young children with FXS.
