Fragile X Syndrome: Causes and Treatment - Essay Example

? Fragile X Syndrome By (Presented to) Fragile X syndrome This syndrome is also called Martin-Bell syndrome and other scientists have given it a third name, Marker X syndrome. This disorder has been found to be the most common cause of autism, familial mental retardation as well as intellectual disabilities worldwide. Some researchers have also found that it is ranks number two as a cause of metal deficiencies associated with genetic. Number one cause of such disorders is Trisomy 21. It has high male preponderance with females generally acting as carriers. Overall, it affects about 1 in every 4000 males and 1 in every 8000 females, giving a male to female ratio of 2:1. It is a sex linked dominant condition that occurs and has reduced penetrance (Denman, 2011). Causes The most important cause of this symptom is genetic abnormalities and mutation of the fragile X retardation 1 gene (FMR1) on the X chromosome. This leads to development of more CCG trinucleotide repeats in the position 5’ un-translated region of the gene. Apart from this translocation, there can be a point mutation that affects the gene causing the condition. Since there is a mutation on the mentioned gene, many repeat codons are available. Therefore methylation of the gene on band Xq27.3 leads to development of a constriction of a portion on the X chromosome hence development of fragility (Hagerman & Hagerman, 2002). Signs and symptoms of the condition This condition generally affects most systems in the body. Problems are observed in the following areas: developmental and cognitive behaviors, musculoskeletal and central nervous systems, general behavior and recurrent nonspecific illnesses. These signs and symptoms are discussed below. Developmental Generally, the patient has delayed mile stones as compared to other infants of the same chronological age. This means that the normal time taken to reach important goals like supporting the head, crawling, standing and even walking are not reached at the normal times that other infants without the condition take. Delays in language and speech are often noted after reaching the first year of life together with impairment of fine motor skills. Preservation and echolalia tend to dominate the patient’s speech as he grows up and these can sometimes be accompanied with lose of expressive language ability with a very short term memory (Hagerman & Hagerman, 2002). Cognitive signs and symptoms Low intelligent quotient is often noted (20-70) although that for females may approach 80. This IQ also tends to be higher in children and reduced or low in adulthood since there is progressive mental retardation as the patient grows up. Neurophysiology The patient appears depressed almost always with episodes of anxiety. They tend to develop an autistic like behavior and an oppositional defiant disorder. The children have difficulty in coping with altered routines and seizures often develop between the age of 6 and 24 months. They also might develop tantrum episodes and self-injurious behaviors. Some males develop features that closely resemble attention deficit disorders which might include attention deficits (Upner, 2007). In musculoskeletal system, the chest often appears pigeon shaped a term known as pectus excavatum. The joints of the body are lax, hyper extensible and have dislocations. The spinal cord is also deformed, having a shape called scoliosis. The muscles are hypotonic and the feet are flat (Carvajal & Aldridge, 2011). Other symptoms include the following: Feeding difficulties that might include reflux or vomiting. This might be associated with low weights during infancy. Other children might develop obesity caused by severe hyperphagia. The patients might also have reduced visual acuity, strabismus, recurrent sinusitis and otitis media. The males often have testicular hyperplasia and obesity that leads to poor linear growth with diffuse and hyper pigmented skin. Generally, the patients have small hands, facial asymmetry with a larger head circumference with very prominent jaws and forehead. There is increased incidence of hernias, especially inguinal ones during growth and there is always presence of mitral valve prolapse in the cardiovascular examination. Concerns and strategies for physical activities Concerns on physical activities for individual patients with this condition must be addressed to avoid accidents and injuries. This therefore calls for proper counseling from by all the concerned parties. To begin with, the parents of the patients and relatives must be advised not to let the patients play or perform physical activities near open flames or hazardous chemicals since they are prone to getting into fits and seizures that might lead to loss of consciousness and falling. At the same time, the patients themselves must be advised on safe activities that they can do to avoid injuries or deforming their joints. Physical activities that require straining and intense muscle involvement should not be recommended. Strategies must therefore be put in place to avoid injury (Hagerman & Hagerman, 2002). These strategies may involve wearing of protective gear to support the patients in case of falls during plays or any other activity. Their joints should also be protected using braces or flaps to avoid unnecessary dislocations and subluxations. Other concerns should include social interactions and relationships. These patients have problems with facial recognition hence might not be in a position to make friends as they have challenge recognizing faces they have seen before. This therefore calls for education of other people about them so that they are helped and supported. Since they have facial defects and deformities, they tend to have problems of facing other people as they feel ugly. Most affected children often feel lonely as they are shunned by their age mates who are normal. They need support and care to make their life bearable. Lastly, these patients tend to have injurious behaviors. These behaviors can be prevented by putting them under constant supervision and removing sharp objects from their surroundings (Hagerman & Hagerman, 2002). Medical care Diagnosis of this condition includes DNA testing. This DNA testing is aimed at typing for the fragile X syndrome. Karyotyping should also be done and it might lead to finding of other chromosomal abnormalities in the patient since most of these recessive disorders often present with other developmental abnormalities. Molecular genetic techniques must be applied to look detect for the presence of FMR1gene.Other diagnostic tools include amniocentesis and prenatal testing using chorionic villus sampling technique. These methods allow for the diagnosis of FMR1 mutation while the fetus is still in utero hence management can be started early. This also allows for genetic counseling of the couples and parents of such children on the future of having children with the same condition (Carvaja & Aldridge, 2011). In genetic analysis, the southern blot test and polymerase chain reactions are the methods that are put into use. It is also important to note that other routine laboratory tests can be done and these include full blood count, urea creatinine and electrolytes and other function tests like liver function tests and kidney function tests. Imaging is also an important modality in managing this condition. It is therefore important to take plain x ray radiographs of the chest and the deformed joints to pick any pathology for management. Computed tomography can also be done for the patient together with ultrasound sonography. Last but not least, the patient should also be imaged using Magnetic Resonance Imaging as this modality will detect very important pathologies that the other modalities cannot pick, especially in the vertebral column and spinal cord (Carvaja & Aldridge, 2011). Indications and contraindications Special diets have been indicated for infants who have significant gastro esophageal reflux. Thickened feeds have been found to reduce the incidences of reflux that might cause aspiration. Apart from this, no other special diet has been indicated for the condition in any age group.Contraindications for such patients may include extreme physical activities that employ muscle strength. These activities may pose a threat to their well-being hence must be avoided at all costs. Consultations These patients need special care as their conditions are unique. These consultations are necessary in order for them to have a normal stress free life like the rest of the population. These consultations might include the following:Therapists dealing with speech and language are very important as they help improve the patient’s speech. Occupational therapists can also be consulted in cases of physical inabilities. Professionals in special education can also be consulted especially when the patients have developed disabilities that require special education. These might involve special schools for autistic children, schools for the blind and physically handicapped etc. behavioral specialists must be consulted to help parents of these patients in decreasing negative behavior. Parents can also visit genetic specialists who will be in a position to help them making decisions involving reproduction (Upner, 2007). References Carvajal, I. F., & Aldridge, D. (2011). Understanding Fragile X Syndrome: A Guide for Families and Professionals. London: Jessica Kingsley Publishers. Denman, R. B., Ed. (2011). Modeling Fragile X Syndrome. New York: Springer. Hagerman, J. R., & Hagerman, P. J., Eds., (2002). Fragile X Syndrome: Diagnosis, Treatment, and Research. New York: JHU press. Upner, J. J., (2007). New Research on Fragile X Syndrome. New York: Nova Publishers. Read More