Management[9, lack of translation of results in

Management9, 10There is currently no cure for FXS but a number of pharmacological, behavioural and cognitive interventions may improve quality of life.Interventions include:Speech therapy.Special needs education.Behavioural therapy.Stimulants such as dextroamfetamine and methylphenidate for those with associated ADHD.Selective serotonin reuptake inhibitors (SSRIs) for symptoms of anxiety.Antipsychotics for mood stabilisation, improving attention and reducing anxiety – particularly aripiprazole.Anticonvulsants where seizures are present.Genetic counselling and support of the parents and other family members.There is very little evidence for the efficacy of any of the pharmacological or behavioural therapies commonly used.11, 12, 13Future prospects, however, look to have potential. A number of promising targeted clinical trials in recent years have had disappointing results due to a number of factors including variable phenotypes/characteristics of those with FXS, difficulty in measuring outcomes and lack of translation of results in genetically altered mice to humans. Compounds for which trials have been completed with disappointing results have aimed to modify the FMRP targets and thus restore excitation/inhibitory signalling pathways. These include metabotropic glutamate receptor 5 antagonists, memantine, lithium, GABA/glutamate normalisers, minocycline and acetyl cholinesterase inhibitors. Folate therapy has been tried in the past and was the subject of a Cochrane review in 2011 but the evidence base was found to be poor and no conclusions could be drawn.14As understanding of the role FMRP plays at cellular and molecular level continues to improve; further target-based therapies are undergoing trials.PrognosisThere is no shortening of life expectancy. Outcome in general varies with the degree of intellectual disability and expression of other characteristics, which vary widely.