Rett syndrome Essay
Rett syndrome Essay
Introduction
Rett syndrome is a rare developmental and genetic neurological disorder that affects the brain’s development. A child diagnosed with the syndrome will have progressive loss of speech and motor skills (Lyst & Bird, 2015). The disorder often affects females. A baby will appear to develop normally between the ages of 6 to 18 months before the acquired skills begin to deteriorate such as using hands, communicating, walking, or crawling. Over time, a child will encounter difficulty in using muscles that control communication, coordination, and movement. A child may also have intellectual disability and episodes of seizures. Additionally, abnormal hand movements will manifest such as clapping and rubbing repetitively thus replacing purposeful use of hands (Lyst & Bird, 2015) Rett syndrome Essay.
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Symptoms
Communication abilities are lost: A child will lose their speech ability and is unable to make eye contact. A child will also not communicate in other ways. A child will lose interest on surroundings and toys. However, a child may gradually grain non-verbal communication skills and eye contact (Katz, Bird, Coenraads et al., 2016).
Loss of coordination and movement: Decreased control of hands and ability to walk or crawl will be observed. The loss of ability occurs very fast then slows down and becomes gradual. This is followed by spastic or rigid positioning or movement (Katz et al., 2016) Rett syndrome Essay.
Slowed growth: A child’s brain growth will slow soon after birth and hence, the head will appear smaller than it should. Growth delay in other parts of the body becomes evident as the child grows (Katz et al., 2016).
Abnormal hand and eye movement: The hand movement will be repetitive and may include rubbing, tapping, clapping, squeezing, and hand wringing. Unusual eye movement will be characterized by closing one eye at a time, crossed eyes, and intense staring (Katz et al., 2016).
Other Signs and Symptoms: As noted by Feldman, Banerjee, Sur (2016), other signs and symptoms include breathing problems including forced exhalation of air and saliva; increased agitation and irritability as a child gets older; loss of intellectual functioning; seizures, abnormal spine curvature; irregular heartbeat (which is life threatening); sleep disturbances such as irregular sleep patterns; feeding problems including chewing food, swallowing, and bowel function; fragile bones that are easily fractured; and cold hands and feet. Rett syndrome Essay.
Pathophysiology
Rett syndrome is as a result of the mutation of the methyl CpG binding protein 2 (MECP 2) gene (Chen, Chen, Lavery, et al., 2015). This gene is involved in the methyl-cytosine binding protein 2(MeCP2). This protein is necessary for development of the brain. It increases or decreases gene expression or alerts other genes on when to stop unique protein production. In Rett syndrome, the MECP2 gene functions abnormally with inadequate amounts or structurally abnormal protein amounts produced thus, causing gene expression of other genes to be abnormal as well.
Additionally, Pohodich & Zoghbi (2015) point out that Rett syndrome can also be caused by gene mutation or deletion of FOXG1 and CKL5 as well as other parts of MECP2 mutation which affect development of the brain in atypical Rett syndrome.
Diagnosis
Treatment Options
There is no known cure for Rett syndrome and hence, treatment includes symptoms management and multidisciplinary approach to the signs and symptoms. Leonard, Cobbs & Downs (2017) assert that a child should be enrolled in communication therapy, physical therapy, and occupational therapy. Drugs are administered for dysfunctional breathing, to control seizures, and for dealing with motor challenges. A child should be re-evaluated regularly for progression of scoliosis and for cardiac abnormalities monitoring. Additionally, a child will need support and social services as well as special education programs. Lastly, a child will require nutritional support to aid in maintaining a healthy weight (Leonard, Cobbs, & Downs, 2017) Rett syndrome Essay.
As a parent, you will need social support for your child with Rett syndrome. It is not easy coping with a child with Retts hence; a support group will be an ideal place to share strategies and advice on coping.
References
Chen, L., Chen, K., Lavery, L. A., Baker, S. A., Shaw, C. A., Li, W., & Zoghbi, H. Y. (2015). MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proceedings of the National Academy of Sciences, 112(17), 5509-5514.
Feldman, D., Banerjee, A., & Sur, M. (2016). Developmental dynamics of Rett syndrome. Neural plasticity, 2016.
Katz, D. M., Bird, A., Coenraads, M., Gray, S. J., Menon, D. U., Philpot, B. D., & Tarquinio, D. C. (2016). Rett syndrome: crossing the threshold to clinical translation. Trends in neurosciences, 39(2), 100-113. Rett syndrome Essay
Leonard, H., Cobb, S., & Downs, J. (2017). Clinical and biological progress over 50 years in Rett syndrome. Nature Reviews Neurology, 13(1), 37.
Lyst, M. J., & Bird, A. (2015). Rett syndrome: a complex disorder with simple roots. Nature Reviews Genetics, 16(5), 261-275.
Pohodich, A. E., & Zoghbi, H. Y. (2015). Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Human molecular genetics, 24(R1), R10-R16. Rett syndrome Essay
It is recommended that you make your project as attractive as possible and consider using the finished product as teaching tools for families that you will work with in your own practices. Rett syndrome Essay.
Students will:
Analyze signs and symptoms of neurodevelopmental disorders
Analyze the pathophysiology of neurodevelopmental disorders
Analyze diagnosis and treatment methods for neurodevelopmental disorders
Evaluate Parent Guides
Using evidence-based research, design and develop a Parent Guide for your assigned disorder including:
Signs and symptoms
Pathophysiology
How the disorder is diagnosed
Treatment options
Provide a minimum of three academic references.
Rett syndrome Essay
