Checklist assessments of FMR1 gene mutation phenotypes.
Copyright policy )Checklist assessments of FMR1 gene mutation phenotypes.
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.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.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).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.
- University of Oklahoma Health Sciences Center United States
Parents, Heterozygote, Fragile X Messenger Ribonucleoprotein 1, Developmental Disabilities, Inheritance Patterns, Child Behavior, Infant, Reproducibility of Results, Child Development, Early Diagnosis, Phenotype, Child, Preschool, Fragile X Syndrome, Surveys and Questionnaires, Mutation, Humans, Genetic Testing, Child, Nursing Assessment
Parents, Heterozygote, Fragile X Messenger Ribonucleoprotein 1, Developmental Disabilities, Inheritance Patterns, Child Behavior, Infant, Reproducibility of Results, Child Development, Early Diagnosis, Phenotype, Child, Preschool, Fragile X Syndrome, Surveys and Questionnaires, Mutation, Humans, Genetic Testing, Child, Nursing Assessment
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).0 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Average influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Average impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Average
Citations provided by BIP!Popularity provided by BIP!