Fragile X Syndrome Symptoms and Investigation

weak X Syndrome Symptoms and InvestigationTitleComplications and investigations of Fragile X syndromeIntroductionFragile X syndrome is considered the most common heritable form of mental retardation, it affects approximately 1 in 4000 males and 1 in 8000 female it is an X linked disease caused by mutation in the FMR1 gene This mutation in dynamic it varies in length and so in severity from generation to generation The syndrome is more soberly affecting boys It is associated with by prominent or long ears This abnormal morphology suggests abnormal audile function.. The mutational mechanism, combined with the location of this gene on the X chromosome, leads to remarkable inheritance patterns in which the relevant alleles are passed from intellectually normal men through their unaffected daughters and then to affected sonsAim of Work psychoanalyse the complications and achieve accurate investigation of soft X syndromeMethodsMeta-analysis randomized controlled trials studies were re vised of Fragile x analysis patients either complicated with hemiplegia or non , and Systematic review and several case control studies were revised about hearing assessment using auditory evoked potential or auditory stimuli on children with fragile X syndrome were identified based on systematic searches of 5 electronic databases including Pubmed database ,in addition to Searching on internet on settle of national fragile x groundation and site European Journal of Human Genetics, which provide me with m whatsoever information that helped me in proving the role of chromosome Karyotyping and proportional genomic hybridization (CGH) microarray in investigation of Fragile X syndromeResultsAccording to Above Methods , Sample of Children with Fragile X syndrome showed that Seizures are reported to occur in 10 to 20 percent of cases with a full mutation FXS 1 and are typically of the complex partial type 4.About 25 50 % suggested a laid-back incidence of autistic behavior , most of them were in the mild to moderate autistic range while few suggested to have severe autism . Also, some other screening studies were done and revealed that the sensitivity to break dance autism in children with FXS is very high.in one cross sectional study, Participants (aged 10-23 years) included 17 males and females with FXS and 16 males and females serving as controls. Patients with FXS showed decreased functional connectivity in the salience, precuneus, left executive control, language, and visuospatial networks compared with controls. Decreased fALFF in the bilateral insular, precuneus, and anterior cingulate cortices also was found in patients with FXS compared with control participants, it is evident that FXS is a neurogenetic disorder characterized by a cognitive and behavioral phenotype resembling features of autism spectrum disorder. But no cases develop a more serious neurologic disorder such as hemiplegia as one of its complicationsIn control studies which is done on sample of children with Fragile X syndrome after chromosome Karyotyping We found a break, or weakness, on the long arm of the X chromosome. it was helpful, it was not always accurate as, those with premutations did not have the typical Fragile X chromosome as seen under the microscope.Also, using relative genomic hybridization (CGH) micro array is very usefulas Comparative genomic hybridization (CGH) micro array is a genetic test to detect any small deletions and duplications of the subtelomers of chromosomesSeveral case control studies was performed using auditory evoked potential One of them was made on 10 girls with fragile X syndrome and some other age matched typically developing controls aimed at performing an auditory temporal discrimination task in a 3T scanner proved that there is significantly great brain activation in the left lateralized networkOn the other hand a case control study was mad on 23 with FXS and 21 controls by using auditory evoked potential and it prove d that AEP of fragile X syndrome patients is within the normal limitsConclusionFrom above studies methods and their results, it was found that there is many complications of fragile X syndrome asSeizure, which is reported to occur in 10 to 20 percent of cases with a full mutation FXShigh percentage of Fragile X syndrome patients develop autism .There are also evidence of developing other developmental disordersBut, no case has been reported to develop hemiplegia so, the fragile x patient is not prone to be hemiplegic.Above studies also showed the accurate investigations for FXS aschromosome Karyotyping help in diagnosis of Fragile X syndrome I recommend it in this case to show the affected gene but , it was not always accuratehearing assessment is recommended to key fragile X syndrome as most of these children have hearing difficulties Although the absence of these difficulties does not rule out the disease(CGH) micro array is recommend in to investigate case with fragile X chromos ome.As it can detect specific abnormalities in a chromosome.ReferencesScambler DJ, Hepburn SL, Hagerman RJ, Rogers SJ. 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