PPM - Assessment and Management of Fragile X Syndrome-Checklist

Checklist

Pdf Summary

This document provides a checklist for the assessment and management of Fragile X Syndrome. It highlights key areas that should be reviewed and documented during patient visits. These include reviewing and documenting molecular test results, discussing the medical and developmental phenotype with the family, and discussing early intervention or school services if appropriate for the patient's age. <br /><br />Genetic counseling is also a crucial aspect, with a focus on reviewing molecular test results with the family, documenting family history in a pedigree, and performing Fragile X molecular studies on the mother and other family members if indicated. Risks of FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome) and premature ovarian failure should be discussed if relevant, and genetic counseling should be documented. Support groups should also be discussed as a potential resource for the family. <br /><br />Surveillance is an important component of managing Fragile X Syndrome. Height, weight, and head circumference should be measured and plotted on growth curves if appropriate for age. An ophthalmology examination should be performed at least once, and hearing and vision should be assessed. Developmental status should be noted, and services provided by Early Intervention Programs or the school system should be reviewed if appropriate for the patient's age. <br /><br />By following this checklist, healthcare practitioners can ensure comprehensive assessment and management of Fragile X Syndrome, covering key aspects such as diagnosis, genetic counseling, and surveillance of the patient's growth and development.

Keywords

Fragile X Syndrome

checklist

molecular test results

genetic counseling

developmental phenotype

early intervention

school services

surveillance

growth curves

diagnosis