Clinical Management of Fragile X Syndrome

Running head:ANNOTATED BIBLIOGRAPHY
Single Trait Genetic Disorder (Fragile X Syndrome)
Name of the Student
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Author Note

1ANNOTATED BIBLIOGRAPHY
Berry-Kravis, E., Des Portes, V., Hagerman, R., Jacquemont, S., Charles,
P., Visootsak, J., ... & Barth, G. M. (2016). Mavoglurant in fragile X
syndrome: results of two randomized, double-blind, placebo-controlled
trials. Science translational medicine, 8(321), 321ra5-321ra5.
10.1126/scitranslmed.aab4109
This paper focuses on a management strategy of Fragile X Syndrome, which is based
on the downregulation of a hyperactive glutamate signaling pathway (mGluR). Evidence
acquired from the mouse model of the disorder shows the same. According to a pilot study,
downregulation of the pathway resulted in improvement in behavior problems, specifically in
individuals carrying a methylation marker. While this method may be possible, it has shown
no promising results in larger clinical trials yet.
Ciaccio, C., Fontana, L., Milani, D., Tabano, S., Miozzo, M., & Esposito, S.
(2017). Fragile X syndrome: a review of clinical and molecular
diagnoses. Italian journal of pediatrics, 43(1), 39.
https://doi.org/10.1186/s13052-017-0355-y
This paper provides an overview of the molecular aspects of Fragile X Syndrome to
influence accurate diagnostic procedures for it. This disorder is caused by a mutation in the
FMR1 gene. The majority of the patients have a CGG repeat in the 5’UTR region of the gene.
The treatments of this condition target the symptoms of the condition rather than the disorder
as a whole. However, studies are being conducted for better therapy, such as reversal of FMR
protein deficiency. The clinical management of this condition is complex, and due to the
large prevalence, it may pose a significant social burden.

2ANNOTATED BIBLIOGRAPHY
Hagerman, R. J., & Hagerman, P. (2016). Fragile X-associated
tremor/ataxia syndrome—features, mechanisms and management. Nature
Reviews Neurology, 12(7), 403. https://doi.org/10.1038/nrneurol.2016.82
This paper focuses on the clinical features of the disorder, especially related
phenotypes. This includes the 5’-UTR expansion of CGG relating to mental retardation, and
majorly Fragile-X-associated tremor/ataxia syndrome. This occurs in a high percentage of
aging males who carry the permutation, while it is significantly lower in females. It has a
large number of neurological manifestations and may also result in the brain to atrophy. It is
possible that therapeutic approaches directly targeting these may help in the condition.
Hall, S. S., Barnett, R. P., & Hustyi, K. M. (2016). Problem behaviour in
adolescent boys with fragile X syndrome: relative prevalence, frequency
and severity. Journal of intellectual disability research : JIDR, 60(12), 1189–
1199. https://doi.org/10.1111/jir.12341
Fragile X Syndrome is the most common cause of intellectual therapy in males, and
often, it shows the prevalence of problem behavior such as aggression, self-injury, and others
like property destruction. The results of this paper showcase the same. This problem behavior
in patients differs from the males having a mixed-aetiology intellectual disorder.

3ANNOTATED BIBLIOGRAPHY
Lozano, R., Azarang, A., Wilaisakditipakorn, T., & Hagerman, R. J.
(2016). Fragile X syndrome: A review of clinical management. Intractable
& rare diseases research, 5(3), 145-157.
https://doi.org/10.5582/irdr.2016.01048
This paper focuses on the clinical management of Fragile X Syndrome, both
pharmacological and non-pharmacological interventions have proven to be useful. It is
helpful to maintain certain lifestyle standards for the patient like a healthy diet, proper
immunizations, and others. Targeted therapy like surgery for mitral valve prolapse, corrective
eyewear for Strabismus, and behavioral therapy for relevant issues is currently the only
therapy available.