Fragile X Premutation: Medications, Therapy and Lifestyle Advice

Sodhi, Deepika Kour; Hagerman, Randi J.

doi:10.2147/pgpm.s338846

Cited by 13 publications

(18 citation statements)

References 125 publications

(133 reference statements)

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“…With respect to premutation carriers, several case reports and clinical guidelines have noted that both the onset and progression of FXTAS may be impacted by lifestyle factors and behaviors, such as alcohol consumption, smoking, substance use, and exercise (R. J. Hagerman & Hagerman, 2016 ; Muzar, Adams, Schneider, Hagerman, & Lozano, 2014 , 2015 ; Sodhi & Hagerman, 2021 ; Song et al, 2016 ). As such, health behaviors may be another important factor mediating the relationship between educational attainment and FXTAS.…”

Section: Introductionmentioning

confidence: 99%

The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women

Hong

Dembo

DaWalt

et al. 2022

SSM - Population Health

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Section: Introductionmentioning

confidence: 99%

The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women

Hong

Dembo

DaWalt

et al. 2022

SSM - Population Health

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“…Further, heritability patterns of fragile X syndrome mean that in any given family unit, the mother or father are also genetically impacted, either with the fragile X full mutation or the premutation. Individuals with the fragile X premutation have increased (55-200) CGG repeats of the fragile X gene (FMR1) (Hessl et al, 2011) and are at increased risk for a variety of their own medical and psychological complications that might impact their parenting experience, including fragile X associated neuropsychiatric disorders (FXAND), such as anxiety, depression, attention deficit/hyperactivity disorder, and learning disabilities (Kour Sodhi & Hagerman, 2021;Hagerman et al, 2018). Despite these risk factors, many families of children with fragile X syndrome demonstrate great resiliency, reporting a high quality of life and satisfaction with parenting (Raspa et al, 2014;Wheeler et al, 2008).…”

Section: Parenting Children With Intellectual Disabilitiesmentioning

confidence: 99%

The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities

Coleman

Thompson

Riley

et al. 2023

Research Intellect Disabil

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Background Parenting children and young adults with intellectual disabilities, including individuals with fragile X syndrome and Down syndrome, is challenging, joyful, and complicated. Exploring how parents talk about their children, and the quality of the parent/child relationship can provide insight into the home environment and interactional patterns of the family. Method Expressed emotion (EE) is a measurement of a family's emotional climate based on a parent or caregiver's report of warmth, emotional overinvolvement, hostility, and criticism. The purpose of this study was to describe EE for a sample of parents of individuals with intellectual disabilities and to determine any differences in EE amongst individuals within subgroups. Based on previous research about fragile X syndrome and family systems, we hypothesized that there would be significant differences between the disability groups (higher EE in families with children/young adults with fragile X syndrome). Results Results showed relatively high proportions of EE across groups of individuals with intellectual disabilities, however, there were no significant differences between the subgroups. Null findings suggest that differences in EE may not relate directly to a child's specific genetic condition. Rather, increased EE in caregiver populations may simply reflect well‐documented stressors related to stigma, caregiver burden, and limited community supports. Critical statements were infrequent, however, over half of the participants reported dissatisfaction with their situation, and many were categorized as having emotional overinvolvement, as measured by frequent statements of intense worry and self‐sacrifice. Conclusion Findings point to potential utility in family‐level interventions focused on providing structured caregiver therapy to manage excessive worry and grief related to a diagnosis of intellectual disability, and respite care to encourage caregiver independence and pursuit of personal care.

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“…Other methods of managing the symptoms include avoiding oxidation stress because of its neurodegenerative effect and maintaining an active lifestyle. [20] Obesity commonly observed in patients with FXS has been successfully treated using metformin. [21] With expanding knowledge about the FMR1 gene and FMRP using KO models many therapeutic strategies have been proposed.…”

Section: Treatment and Screeningmentioning

confidence: 99%

Fragile X syndrome - insight into what we know and prospects

STRZODA

KAMIŃSKA

STRZODA

et al. 2023

J Educ Health Sport

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Fragile X syndrome is a dominantly inherited genetic disease and is a consequence of the FMR1 gene mutation located on the X chromosome. The number of patients affected by this disease with full mutation is estimated at 1 in 4000 men and 1 in 8000 women, however, the number of carriers with premutation is far greater. Depending on the mutation of the FMR1 gene and levels of its products FMRP a variety of symptoms can be observed including- intellectual disability, mental retardation, lowered behavioral adaptation, autism, and dysmorphic features such as a long face with a broad forehead and prominent ears. The treatment is mostly symptomatic- managing comorbidities and an emphasis on psychological therapy. The objective of this paper is to sum up the most up-to-date knowledge regarding the pathogenesis, treatment- current and clinically tested, and novelties in the Fragile X syndrome

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Fragile X Premutation: Medications, Therapy and Lifestyle Advice

Cited by 13 publications

References 125 publications

The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women

The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women

The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities

Fragile X syndrome - insight into what we know and prospects

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