Autism in FXS

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment

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Many individuals with fragile X syndrome (FXS) also have a diagnosis of autism spectrum disorder. This new article takes a closer look at the effects of this dual diagnosis. Previously, the only information available to clinicians and researchers about autism among people with FXS was from small family studies and surveys. Thanks to FORWARD data, this paper presents new findings on co-occurring medical and behavioral conditions from a large number of people who have both FXS and autism.

This research suggests that half of males and almost 20% of females with FXS met the clinical criteria for a diagnosis of autism. This research also found that people with both FXS and autism were more likely than those with FXS alone to have seizures, sleep problems and aggressive behavior. In addition, individuals with autism and FXS had significantly higher use of medications to treat aggression (alpha-agonists and antipsychotics) than individuals with FXS alone. The paper reports that behavioral health services appear to be used less often in individuals with FXS and autism compared to individuals diagnosed with autism alone.

Tables 1 & 2: Seizures and Sleep Problems Associated With FXS+ASD and FXS Only, by Age Groups and All Ages, in Subjects Enrolled From September 7, 2012 through August 31, 2014, FORWARD Database.

Kaufmann WE, et al. Autism spectrum disorder in fragile X syndrome: characterization using FORWARD. Pediatrics 2017;139 (Suppl 3):S194-S206.

Predictors of Attendance at FX Clinics

Attendance at Fragile X Specialty Clinics: Facilitators and Barriers.

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ABSTRACT

The objectives were to describe the demographic characteristics of children with Fragile X syndrome (FXS) and to determine predictors of attendance at Fragile X (FX) clinics. Findings from the Community Support Network (CSN) and Our Fragile X World (OFXW) samples showed that children who attended FX Clinics were mostly male, high-school aged or younger, and white, non-Hispanic. Using logistic regression models, awareness about FX Clinic services, guardian education, and income (CSN), and child age, family income, and total number of co-occurring conditions (OFXW) were predictors of clinic attendance. Demographic and child characteristics accounted for a large portion of the explained variance. Importantly, symptom severity and parent knowledge about services were independent predictors beyond the demographic characteristics of families.

Kidd SA, Raspa M, Clark R, Usrey-Roos H, Wheeler AC, Liu JA, et al. Attendance at fragile X specialty clinics: facilitators and barriers. Am J Intellect Dev Disabil. (2017) 122:457–75. doi: 10.1352/1944-7558-122.6.457

Importance of FX Specialty Clinics

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.

Visootsak J, Kidd SA, Anderson T, Bassell JL, Sherman SL, Berry-Kravis EM. 2016. Importance of a specialty clinic for individuals with fragile X syndrome. Am J Med Genet Part A 170A:3144–3149.

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Fragile X Clinical and Research Consortium

Clinicians’ experiences with the fragile X clinical and research consortium.

ABSTRACT

The objectives of the study were to assess the attitudes and experiences of clinicians involved in a consortium of clinics serving people with fragile X-associated disorders to gauge satisfaction with the consortium and its efforts to improve quality of life for patients and the community. An internet survey was sent to 26 fragile X (FX) clinic directors participating in the Fragile X Clinical and Research Consortium (FXCRC). Respondents were asked to complete 19 questions on consortium performance and outcomes relevant for their own clinic. The response rate was 84% (22/26), with two surveys providing incomplete data. Assistance with clinic establishment, opportunities for research collaborations, and access to colleagues and information were highly valued. Approximately 76% of clinicians reported improvements in patient care and 60% reported an increase in patient services. There was a 57% increase in participation in a FX-related clinical trial among clinics since joining the FXCRC (24% vs. 81%). Overall, respondents reported primarily positive experiences from participation in the FXCRC. Common suggestions for improvement included additional financial support and increased utilization of collected patient data for research purposes. Additionally, a Clinic Services Checklist was administered annually to examine changes in services offered over time. There were several important changes regarding the provision of services by clinics, often with multiple clinics changing with respect to a service. In conclusion, the FXCRC has led to the establishment and sustainment of fragile X clinics in the U.S., fostered cooperation among fragile X clinicians, and provided clinics with a platform to share recommendations and best practices to maximize quality of life for their patients and the overall fragile X community. The results from the survey and checklist also provide suggestions to strengthen the FXCRC and enhance future collaborations among FXCRC members.

Liu JA, Hagerman RJ, Miller RM, Craft LT, Finucane B, Tartaglia N, Berry-Kravis EM, Sherman SL, Kidd SA, Cohen J. 2016. Clinicians’ experiences with the fragile X clinical and research consortium. Am J Med Genet Part A 170A:3138–3143.

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