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Fragile X syndrome
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=== Medication === Current trends in treating the disorder include medications for symptom-based treatments that aim to minimize the secondary characteristics associated with the disorder. If an individual is diagnosed with FXS, genetic counseling for testing family members at risk for carrying the full mutation or premutation is a critical first-step. Due to a higher prevalence of FXS in boys, the most commonly used medications are stimulants that target hyperactivity, impulsivity, and attentional problems.<ref name=Garber/> For co-morbid disorders with FXS, antidepressants such as [[selective serotonin reuptake inhibitor]]s (SSRIs) are utilized to treat the underlying anxiety, obsessive-compulsive behaviors, and mood disorders. Following antidepressants, antipsychotics such as [[risperidone]] and [[quetiapine]] are used to treat high rates of self-injurious, aggressive and aberrant behaviors in this population (Bailey Jr et al., 2012). Anticonvulsants are another set of pharmacological treatments used to control [[seizure]]s as well as mood swings in 13%β18% of individuals with FXS. Drugs targeting the mGluR5 (metabotropic glutamate receptors) that are linked with synaptic plasticity are especially beneficial for targeted symptoms of FXS.<ref name=Garber/> Lithium is also currently being used in clinical trials with humans, showing significant improvements in behavioral functioning, adaptive behavior, and verbal memory. Few studies suggested using folic acid, but more researches are needed due to the low quality of that evidence.<ref>{{cite journal | vauthors = Rueda JR, Ballesteros J, Guillen V, Tejada MI, SolΓ I | title = Folic acid for fragile X syndrome | journal = The Cochrane Database of Systematic Reviews | issue = 5 | pages = CD008476 | date = May 2011 | pmid = 21563169 | doi = 10.1002/14651858.CD008476.pub2 }}</ref> Alongside pharmacological treatments, environmental influences such as home environment and parental abilities as well as behavioral interventions such as speech therapy, sensory integration, etc. all factor in together to promote adaptive functioning for individuals with FXS.<ref name="Hagerman et al 2009"/> While metformin may reduce body weight in persons with fragile X syndrome, it is uncertain whether it improves neurological or psychiatric symptoms.<ref>{{cite journal | vauthors = Gantois I, Popic J, Khoutorsky A, Sonenberg N | title = Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders | journal = Annual Review of Medicine | volume = 70 | pages = 167β181 | date = January 2019 | pmid = 30365357 | doi = 10.1146/annurev-med-081117-041238 | s2cid = 53093694 | url = https://escholarship.mcgill.ca/concern/articles/2j62s977h | doi-access = free }}</ref> Current pharmacological treatment centers on managing problem behaviors and psychiatric symptoms associated with FXS. However, as there has been very little research done in this specific population, the evidence to support the use of these medications in individuals with FXS is poor.<ref>{{cite journal | vauthors = Rueda JR, Ballesteros J, Tejada MI | title = Systematic review of pharmacological treatments in fragile X syndrome | journal = BMC Neurology | volume = 9 | pages = 53 | date = October 2009 | pmid = 19822023 | pmc = 2770029 | doi = 10.1186/1471-2377-9-53 | doi-access = free }}</ref> [[ADHD]], which affects the majority of boys and 30% of girls with FXS, is frequently treated using [[stimulants]].<ref name=McLennan/> However, the use of stimulants in the fragile X population is associated with a greater frequency of adverse events including increased anxiety, irritability and mood lability.<ref name=Tranfaglia/> Anxiety, as well as mood and obsessive-compulsive symptoms, may be treated using [[SSRIs]], although these can also aggravate hyperactivity and cause disinhibited behavior.<ref name=Garber/><ref name=Tranfaglia/> [[Atypical antipsychotics]] can be used to stabilise mood and control aggression, especially in those with comorbid ASD. However, monitoring is required for metabolic side effects including weight gain and diabetes, as well as movement disorders related to [[Extrapyramidal symptoms|extrapyramidal side effects]] such as [[tardive dyskinesia]]. Individuals with coexisting seizure disorder may require treatment with [[anticonvulsants]].
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