Fragile X Syndrome Symptoms and Investigation

Fragile X Syndrome Symptoms and InvestigationTitleComplications and probes of Fragile X syndromeIntroductionFragile X syndrome is considered the most common inherited form of manpowertal retardation, it affects approximately 1 in 4000 males and 1 in 8000 female it is an X connect disease caused by mutation in the FMR1 factor This mutation in dynamic it varies in length and so in severity from generation to generation The syndrome is more severely affecting boys It is associated with by prominent or long ears This abnormal morphology suggests abnormal auditory 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 WorkStudy the complications and achieve accurate probe of breakable X syndromeMethodsMeta-analysis randomized conditionled trials studies were revised of Fragile x analysis patients either complicated with unilateral paralysis or non , and Systematic review and several causal agency control studies were revised about tryout assessment using auditory evoked authorization or auditory stimuli on children with imperfect X syndrome were identified based on systematic searches of 5 electronic databases including Pubmed database ,in addition to Searching on earnings on site of national fragile x foundation and site European ledger of tender-hearted Genetics, which provide me with many information that helped me in proving the role of chromosome Karyotyping and comparative genomic hybridization (CGH) micro present in investigation of Fragile X syndromeResultsAccording to supra Methods , Sample of Children with Fragile X syndrome showed that Seizures are reported to glide by 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 high incidence of ill behavior , most of them were in the mild to moderate autistic range while few suggested to render severe autism . Also, an opposite wake studies were d hotshot and revealed that the sensitivity to die autism in children with FXS is very high.in champion 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 pretend the typical Fragile X chromosome as seen under the microscope.Also, using comparative genomic hybridization (CGH) micro array is very usefulas Comparative genomic hybridization (CGH) micro array is a genetic interrogatory 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 another age matched typically ontogeny 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 au ditory evoked potential and it proved that AEP of fragile X syndrome patients is within the normal limits shoemakers lastFrom 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 urge it in this case to show the affected gene but , it was not always accurate interview assessment is recommended to diagnose 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 chromosome.As it can detect specific abnormalities in a chromosome.ReferencesScambler DJ, Hepburn SL, Hagerman RJ, Rogers SJ. A preliminary study of screening for risk of autism in children with fragile X syndrome testing two risk cut-offs for the Checklist for Autism in Toddlers. J intellect Disabil Res. 2007 Apr51(Pt 4)269-76. PubMed PMID 17326808.Petit E, Hrault J, Raynaud M, Cherpi C, Perrot A, Barthlmy C, Lelord G, Mh JP. X chromosome and infantile autism. Biol Psychiatry. 1996 Sep 1540(6)457-64. PubMed PMID 8879465.Lee AD., Leow AD., Lu A., et al 3D Pattern of brain abnormalities in fragile X syndrome visualized using tensor-based morphometry. Neurolmage. 200734924938.Haas BW., Barnea-Goraly N., Lightbody A., et al Early white-matter abnormalities of the ventral frontostriatal pathway in fragile X syndrome. Dev Med Child Neurol. 200951593599.Ribacoba Montero R, Salas Puig J, Fernndez Toral J, Fernndez grocerynez JM, Moral Rato M. Fragile X syndrome and epilepsy. Neurologia Internet. 1995 Feb cited 2013 Dec 110(2)705.Musumeci SA, Hagerman RJ, Ferri R, Bosco P, Dalla Bernardina B, Tassinari CA, et al. Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia Internet. 1999 Aug cited 2013 Dec 140(8)10929.Crawford DC, Acuna JM, Sherman SL FMR1 and the fragile X syndrome human genome epidemiology review. Genet Med 2001 3 359371.Hagerman RJ Medical follow-up and pharmacotherapy in Hagerman RJ, Hagerman PJ (eds) Fragile X Syndrome Diagnosis, handling and Research, 3rd edn. Baltimore The Johns Hopkins University Press, 2002, pp 287338.Roberts J, Hennon EA, Anderson K, Roush J, Gravel J, Skinner M, et al. Auditory brainstem responses in young males with Fragile X syndrome. Journal of speech, language, and hearing research JSLHR Internet. 2005 Apr cited 2013 Dec 248(2)494500.Rueda J-R, Ballesteros J, Guillen V, Tejada M-I, Sol I. Folic acid for fragile X syndrome. The Cochrane database of systematic reviews Inte rnet. 2011 Jan cited 2013 Dec 3(5)CD008476.Keywords -FragileXsyndrome autism- epilepsy- CGH-chromosome karyotyping -auditory evoked potential -hemiplegia