Importance of a specialty clinic for individuals with fragile X syndrome

Abstract

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 < 0.001), with anxiety (62%) being the most common. For female probands, the most frequent diagnosis was also anxiety (87%). Prior to the clinic visit, very few patients were prescribed psychotropic medications. After the clinic visit, the most frequently prescribed psychotropic medications for males were stimulants (41%; P < 0.001) and SSRIs (40%; P < 0.001). For females, only stimulants (33%; P = 0.03) and SSRIs (44%; P = 0.008) were statistically significantly prescribed. Our results revealed that there is a gap in care to address the co-morbid behavioral issues, psychopharmacologic medication management, and genetic counseling needs regarding FXS. A multidisciplinary setting and approach, such as that offered by a Fragile X Clinic, is one method of treating the complex needs of patients with FXS. © 2016 Wiley Periodicals, Inc.

Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents

“…Parents expressed a lack of knowledge about FXS in most physicians and other healthcare providers, and lack of health evaluations. This is confirmed by a recent study by Visootsak et al, which showed that their patients had not received appropriate FXS-specific care prior to visiting their Fragile X clinic, leading to underdiagnosis and undertreatment (Visootsak et al 2016). Our study confirms the need for a multidisciplinary team and approach, also for adults with FXS.…”

Advancing artificial intelligence-assisted pre-screening for fragile X syndrome

“…However, these clinics are not accessible to most potential patients. The prevalence of the syndrome and its significant impact on the health of patients and family members make diagnosis of FXS a public health priority [16,18,19,[26][27][28][29][30][31][32][33][34][35].…”

How do genetic tests answer questions about neurodevelopmental differences? A sociological take

“…What is more, knowledge about a mutation such as fragile X or the 22q11.2 microdeletion can redirect clinical attention and lead to the discovery of medical, neurodevelopmental, and psychiatric issues that may have otherwise evaded detection. 39 Consider the consensus-based guidelines for 22q11.2DS, published in the Journal of Pediatrics in 2011. They recommend no fewer than 21 specialist assessments for people with 22q11.2DS, ranging from cardiology and immunology through to development, school performance, socialization, and psychiatry, regardless of their clinical presentation, often at several developmental milestones each.…”

“…Indeed, a genetic diagnosis often leads to a wide range of referrals, tests, and even treatments that may not have been considered indicated on the basis of a patient's previous clinical presentation alone. What is more, knowledge about a mutation such as fragile X or the 22q11.2 microdeletion can redirect clinical attention and lead to the discovery of medical, neurodevelopmental, and psychiatric issues that may have otherwise evaded detection 39 . Consider the consensus‐based guidelines for 22q11.2DS, published in the Journal of Pediatrics in 2011.…”