Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome

Visootsak, Jeannie; Hipp, Heather S.; Clark, Heather M.; Berry‐Kravis, Elizabeth; Anderson, Tovi M.; Laney, Dawn A.

doi:10.1016/j.jpeds.2014.01.051

Cited by 13 publications

(7 citation statements)

References 26 publications

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“…From 106 initial probands with FXS, there was a threefold discovery of family members with either a premutation or full mutation. This result is similar to a previous study which revealed that after the initial diagnosis of a proband with FXS, on average at least five additional family members were diagnosed with an FMR1 mutation [Visootsak et al, ]. The standard practice of taking a genetic pedigree resulted in cascade screening, an active process to find immediate and extended family members affected with inherited genetic conditions, for which interventions may exist to aid individuals after the case‐finding.…”

Section: Discussionsupporting

confidence: 89%

Importance of a specialty clinic for individuals with fragile X syndrome

Visootsak

Kidd

Anderson

et al. 2016

American J of Med Genetics Pt A

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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.

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Section: Discussionsupporting

confidence: 89%

Importance of a specialty clinic for individuals with fragile X syndrome

Visootsak

Kidd

Anderson

et al. 2016

American J of Med Genetics Pt A

Self Cite

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“…For example, the parents of a newly diagnosed child may need to consider the possible impact of an FMR1 expansion on not only the child and carrier parent, but also the possibility of a grandparent developing FXTAS, as well as the reproductive impact for siblings, aunts, or cousins. 109 Future reproductive decisions will also be impacted. In qualitative interview studies of reproductive decisions made by carrier mothers, 110,111 the majority (77%) had decided not to have more biological children because of the 50% risk of passing on the mutation to their child.…”

Section: Resultsmentioning

confidence: 99%

“…109 Pediatricians can help increase awareness of and support families in receiving services, such as referrals for genetic testing and counseling, behavioral therapies, psychological counseling, psychopharmacology, and educational interventions. This support includes services for a clinically referred child, as well as other affected family members.…”

Section: Resultsmentioning

confidence: 99%

Implications of theFMR1Premutation for Children, Adolescents, Adults, and Their Families

Wheeler

Raspa

Hagerman³

et al. 2017

Pediatrics

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BACKGROUND AND OBJECTIVES Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may increase individual and family vulnerabilities. This article summarizes important gaps in knowledge and notes potential implications for pediatric providers with regard to developmental and medical risks for children and adolescents with an FMR1 premutation, including possible implications into adulthood. METHODS A structured electronic literature search was conducted on FMR1 pre- and full mutations, yielding a total of 306 articles examined. Of these, 116 focused primarily on the premutation and are included in this review. RESULTS Based on the literature review, 5 topic areas are discussed: genetics and epidemiology; phenotypic characteristics of individuals with the premutation; implications for carrier parents of children with FXS; implications for the extended family; and implications for pediatricians. CONCLUSIONS Although the premutation phenotype is typically less severe in clinical presentation than in FXS, premutation carriers are much more common and are therefore more likely to be seen in a typical pediatric practice. In addition, there is a wide range of medical, cognitive/developmental, and psychiatric associated features that individuals with a premutation are at increased risk for having, which underscores the importance of awareness on the part of pediatricians in identifying and monitoring premutation carriers and recognizing the impact this identification may have on family members.

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“…In addition, pediatricians may be called on to support the larger family system, because a diagnosis of 1 individual can impact many other family members. 204 These basics are reviewed in this article, although if the pediatrician feels uncomfortable regarding these points, they can refer to a specialist, such as a developmental-behavioral pediatrician or psychiatrist, for psychopharmacologic intervention or a genetic counselor to discuss extended family involvement and reproductive options.…”

Section: Discussionmentioning

confidence: 99%

Public Health Literature Review of Fragile X Syndrome

2017

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OBJECTIVES The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families. METHODS An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review. RESULTS The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented. CONCLUSIONS The identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families.

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Climbing the Branches of a Family Tree: Diagnosis of Fragile X Syndrome

Cited by 13 publications

References 26 publications

Importance of a specialty clinic for individuals with fragile X syndrome

Importance of a specialty clinic for individuals with fragile X syndrome

Implications of theFMR1Premutation for Children, Adolescents, Adults, and Their Families

Public Health Literature Review of Fragile X Syndrome

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