Importance of a specialty clinic for individuals with fragile X syndrome
| Autor: | Stephanie L. Sherman, Sharon A. Kidd, Elizabeth Berry-Kravis, Julia L. Bassell, Jeannie Visootsak, Tovi Anderson |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Proband Male Pediatrics medicine.medical_specialty Genetic counseling Specialty Genetic Counseling 030105 genetics & heredity 03 medical and health sciences 0302 clinical medicine Quality of life 030225 pediatrics Intellectual disability Genetics medicine Humans Medical diagnosis Genetics (clinical) Psychotropic Drugs business.industry Mental Disorders Disease Management medicine.disease Fragile X syndrome Fragile X Syndrome Mutation Quality of Life Anxiety Female medicine.symptom business |
| Zdroj: | American journal of medical genetics. Part A. 170(12) |
| ISSN: | 1552-4833 |
| Popis: | Advances in human genetics have identified a significant number of genetic disorders associated with intellectual disability. As a result, appropriate clinical management of these affected individuals and their family members have become critical in addressing medical needs to improve quality of life. We examine the importance of a Fragile X Clinic for individuals with fragile X syndrome (FXS) and their family members by conducting a retrospective chart review of 123 new patients with FXS evaluated at the Fragile X Clinic at Emory University. After the initial diagnosis of a proband with FXS with cascade testing, there were 345 family members identified with a mutation (70% with premutations; 30% with full mutations). In terms of the impact of the clinic visit, males had a substantial number of new diagnoses in all behavioral disorders (P |
| Databáze: | OpenAIRE |
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