Checklist assessments of FMR1 gene mutation phenotypes.
Checklist assessments of FMR1 gene mutation phenotypes.
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发表时间：
2008
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通讯作者：
Vanessa Johnson
中科院分区：
文献类型：
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作者：
Vanessa Johnson
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.
