Fragile X Syndrome
FragileX syndrome is one of the most common hereditary disorders. Fragile Xsyndrome also known as mental retardation is therefore, a geneticdisorder caused by mutation in X chromosome. Like other ailments, itis important to know how the disorder presents itself in terms of thesigns and symptoms so as to allow for early detection. Earlydetection comes in handy [particularly in providing some time fortreatment and intervention measures thus leading to a more optimaloutcome. In addition, it is perfectly acknowledged that healthprofessionals have a much easier task in instances where an ailmentis discovered early. Although different research gives differentrange of percentages to illustrate its prevalence in male andfemales, it is clear that the disorder is more prevalent in malesthan in females. Indeed, research shows that 1/4000 males havefragile X disorder while 1/8000 females have significant features ofthe syndrome (Rueda et al, 2009).
Thewidely known causes of this condition include Down syndrome: acondition that causes an error in the number of X chromosomes.Secondly, Fragile X syndrome is caused by a repeat in genetic code inthe X chromosome. Also, it can occur due to production of a defectiveenzyme due to an error in a single gene. Lastly, mental retardationmay be due to excessive intake of alcohol by pregnant mothers causingmalformation of the fetus or extreme exposure of mothers to highlyreactive poisons (Rogers et l, 2001). Conditions such as rubellasyndrome, which is characterized by physical abnormalities due tomaternal infection, may also lead to a Fragile X syndrome. Mentalretardation causes a wide range of developmental, physical andbehavioral challenges in the affected individuals worldwide.Genesproduces information which makes a specific protein that isresponsible for specific roles in the body. A change in thisinformation may limit the ability to produce the necessary levels ofprotein or the protein is not produced at all. The normal FMR1 genehas a repeat code of 6-50 ‘CGG’ triplet repeat. Individualsconsidered as carriers of the permutated gene have their FMR1 genes(with a repeat code of 50-200) whereas fully mutated genes containmore than 200 repeats. These mutations interfere with the genefunctioning limiting its capacity to produce fragile X mentalretardation protein. This protein deficiency causes mentalretardation mental retardation. The levels of Fragile X retardationprotein produced in the body determine the severance of the symptomsdepicted by individuals suffering from mental retardation condition.An Individual with nearly normal level of protein displays mild or nosymptoms, while those with minimum levels of the protein have severesymptoms (Rueda et al, 2009).
Roleplayed by inheritance
Tobe able to understand how Fragile X syndrome is passed on to othergeneration through inheritance, a little background of how it occursis necessary. Starting from the fact that human body is made up ofdifferent cells. Each cell contains thousands of genes whichdetermine personality traits in an individual. The genes areresponsible for making proteins which helps the body to functionproperly. In addition, the FMR1 gene produces a protein calledfragile X mental retardation protein in X chromosome. People inherittheir chromosomes from their parents’ one of each pair from thefather and another one from the mother. A female child gets an Xchromosome from the Mother and an X chromosome from the father whilea male child gets an X chromosome from the Mother and Y chromosomefrom the mother (Rueda et al, 2009). A female parent (Mother) willpass the condition over to the children both male and femalechildren. Research has shown that there is a 50 percent chance of thefemale parent passing over the syndrome to her siblings (Wassink etal, 2001). On the other hand, a male parent passes over chromosome Xto the girl child and chromosome Y to the boy child. If the maleparent was affected he will pass the syndrome to the girl child butwill not pass it to the boy child. A parent with a premutation caneither get a child with a premutation or full mutation.
Unfortunately,researchers are yet to come up with any technique for eliminating thecondition, in which case patients only have the choice of managing itappropriately so as to ease the discomfort and prevent the reductionof productivity. Essentially, efforts to control it can only beeffected by genetic counselling for testing the relatives and closefamily members of the affected patients or a known carrier forpremutation and full mutations to curb the spread to othergenerations (Rueda et al, 2009). Among the people who should betested include, male and female who display the symptoms of fullmutations, people with an extended family history of fragile Xsyndrome, pregnant women or their partners with intellectualdisability whose cause is not known, unborn babies of parents who arecarriers of premutation and lastly, couples with a family history ofpremature menopause (Wassink et al, 2001).
Changein symptoms over time:
Eachand every person affected by the Fragile X syndrome displays variedsigns and symptoms. Even children born in the same family may havediffering symptoms. The varied symptoms therefore, complicate theprocess of the syndrome detection. The physical symptoms are hard todetect in young children except for a very soft skin and broadforeheads. When approaching teenage, at around 11 years, the affectedpersons are known to share some physical, social, mental and sensorytraits due to limited levels of Fragile X Retardation protein(Wassink et al, 2001). Physical traits range from having largeprotruding ears, high forehead, over flexible joints and flat feet. Towards puberty, boys develop enlarged testicles. The affectedpatients may not have other medical complications except earinfections and increased risk of experiencing seizures (epilepsy),Mitral valve prolapse, ruptures and joint dislocations. Males withpremutations may develop hand tremors and difficulties in walking infuture. The symptoms may progress from learning disabilities to lowintelligence quotient to extreme intellectual disability. Males tendto be more affected by the FMR1 gene with an average IQ of 40,whereas females are less affected with a normal IQ but onlyexperiences difficulties in learning (Rueda et al, 2009). Behavioral symptoms include attention deficit sometimes with hyperactivity, extreme reaction to anything stimulating their senses suchas seeing, smelling, tasting and touching. The disorder may progressto autism where the patient will be resistant to change, flappinghands and even biting clothes. There are known changes especially inchildren whereby children with fragile X syndrome may develop to fullpotential if early intervention measures are applied. This is sobecause a child’s brain is still developing (Rogers et l, 2001). Nomatter when the syndrome is diagnosed, persons with fragile Xsyndrome can be assisted through educational and therapeutic options.Even adults can progressively develop fully if they go throughvocational assessment and training. Engaging them in supportedemployment and community participation helps a great deal. Symptomssuch as speech difficulties can be improved by engaging speechlanguage therapists (Rueda et al, 2009). For the patients who do notrespond to functional speech, therapists may consider teaching themsign language. Individuals suffering from this condition can beassisted to develop to maturity through consistent daily schedulesand routines such as acknowledging their learning style,incorporation of visual signs such as sign language and coloredpictures to present ideas and concepts to the affected persons(Wassink et al, 2001). Also, full inclusion in classrooms,encouraging them to work in groups will reduce their withdrawalsymptoms
Inconclusion, Fragile X syndrome appears to be the most challenginginherited syndrome as there is no specific treatment pertaining tothe syndrome. The doctors can only minimize the symptoms. However, itis advisable to regularly evaluate and re- evaluate affected personsfor any changes that may require special attention such as regroupingpersons with severe withdrawal symptoms and placing them underspecialized or more individualized care settings. Also the extremehyperactivity may be dangerous to the societal members includingrelatives and family members and such patients are recommended toseek medical attention to suppress the symptoms. They should betaught to be more active and more self reliant by encouraging them totake a walk around and teaching those affected simple activities suchas dressing themselves. Persons with Fragile X syndrome are capableof learning especially due to their good memories for pictures andvisual images, only that they need more time and special teachingmethods in a tailored environment.
RuedaJ.R, Ballesteros, J, Tejada MI & Ballesteros, T.(2009). "Systematic review of pharmacological treatments infragile X syndrome". BMCNeurol 9:53.
Rogers,S. J., Wehner, D. E., & Hagerman, R. (2001). The behavioralphenotype in fragile x symptoms of autism in very young children withfragile x syndrome, idiopathic autism, and other developmentaldisorders. Journalof Developmental and Behavioural Pediatrics, 22, 409-417.
Wassink,T. H., Piven, J., & Patil , S. R. (2001). Chromosomalabnormalities in a clinic sample of individuals with autisticdisorder.Psychiatric Genetics, 11, 57-63.