Genetic Disorder In children
Genetic Disorder is a condition caused by mutation or a change of an individual sequence of DNA. Variations are usually caused by an error that takes place when DNA replicates, and they can also be caused by environmental factors, which include smoking cigarettes when one is exposed to radiation since these causes a change in the DNA sequence. The DNA in our body sends a code that led to the making of proteins, and these are molecules that perform excellent functions in the shape of a human being. If the DNA section changes in either way, then the code provided by that protein is affected, and it is unable to code correctly; hence the person gets the genetic Disorder.
The following are characteristics of a child who may be suspected to have genetic Disorder
- Children have different eye colour
- Different shape of eyes
- Having Ear abnormalities
- Children having sparse
- Children with various facial features which are not found in other members of the family
- Large tongue or a small one
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- Excess hair in the body
- Misshapen teeth
- Stiff joints or loose ones
- Excessive skin
- Unusual body odour
Dermatologic Abnormalities this a condition the patients show excellent signs of dermatologic abnormalities, which are associated with abnormalities of tissues, hair, nails and they usually have tissue defects; such muscles are teeth with different shapes and nerves. Some of the conditions can dispose of someone to cancer.
Neurofibromatosis out of 3000 people, one person, must be suffering from this condition, and it is most likely that the person is suffering from genetic Disorder (AbdulAzeez et al. 2019). The most conventional form of this condition is NF type 1, which is caused by a lack of NF1 gene that codes tumour suppressor, which is expressed by Oligodendrocytes as well as Schwann cells. A patient suffering this condition has the following characteristics neurofibromas, Inguinal freckling, axillary, lisch nodules, pseudoarthrosis and optic gliomas. If a patient has this condition, they are done for a test, but the physical feature is just enough.
NF type 2, this condition leads to the development of neuronal tumours internally, this cannot be identified physically. Vestibular Schwannoma, a tumour mostly noticed from NF type 2 when the patient is in their early adulthood, the patient also suffers hearing loss as well as tinnitus. The following are tumours also associated with this condition; gliomas, Schwannomas and meningioma. The tumours in this condition are mostly benign; it depends on where they are positioned anatomically since they can cause mortality or significant morbidity.
Xeroderma pigmentosum in this condition pyrimidine dimer is usually formed when the photochemical reaction takes place. This is generally facilitated by UV light, which causes the formation of a covalent bond between two DNA strands, which results in abnormal hydrogen bonding with the bases of opposite strands hence distorting the DNA structure (Baio et al., 2018). Sometimes the cell induces point mutation, therefore, resolving the abnormality, and this is called maladaptive.
Nucleotide excision this process is facilitated by the cell to correct pyrimidine dimers, which results in clinical phenotype. XP has the following characteristics; photosensitivity, together with a lot of dermatologic abnormalities, which can be suspected to be skin cancer. The Disorder can be transmitted through autosomal recessive means.
The patients usually have irregular pigments as well as diffuse freckling, and they typically have sunburns when they are exposed in the sun for a short period, and they suffer xerosis on their skin, they have telangiectasias. The patients also suffer cognitive impairment, hearing loss, microcephaly, epilepsy and these are signs of neurologic disease. XP requires continuous diagnosing as well as focusing on the preventing of the symptoms by reducing UV exposure as the patient undergoes tumour surveillance. A medication called Retinoid is used to avoid the patient from getting a tumour. If a patient has dermatological symptoms and ophthalmologic requires frequent surgical intervention.
Many children who suffer from genetic Disorder have the following problems; they lack interest in activities they have ever tried and failed. They don’t like interacting with others. They are usually frustrated if they failed in the task they are undertaking. They have low self-esteem, and they are often distracted. It isn’t effortless for them to understand conventions in social interaction. It is difficult for them to articulate sounds; also, they experience difficulties when reading, and when writing (Findling et al. 2018). They usually possess immature playing skills, and they become anxious when they are to take part in challenging tasks. They like playing with younger children since they have the same skills and they find it easy to play it. They usually complain that a particular job is hard for them. They typically have poor communication non-verbal skills and have poor motor skills. They have a poor understanding of instructions, jokes and questions and also have difficulties accessing the school curriculum.
Patients with genes Disorder are affected both physically and psychologically and socially. The family members of these patients are also affected socially since they need to understand the way they can deal with them. If the family realizes someone is suffering from this condition, they need to visit the hospital to get genetic information and the patient to be tested so that they can be guided to avoid distress as well as maximize the benefit to the parents and the patient. The patient should be taken to the specialist who will be able to address the condition as well as psychological support for the patient and his parents.
If the risk of the condition increases, the patient is taken under medication for the management of the disease. Guidance and counselling sections are carried on for both patient and their family members for psychological and social support. The person with this condition usually have issues with their emotions which includes; helplessness, guilt and fear and that why it is recommended to see a genetic counsellor, psychologist and social worker who works together with support group who helps both the patient and his family members since they can deal with difficulties (Takahashi et al.,2020).
In conclusion, genetic Disorder affects both the patient and their family members. The affected patients are usually withdrawn, they don’t like socializing, and they have a physical weakness, which includes hearing problems, sunburns, a large tongue, which led to problems when communicating. They have difficulties with reading and writing, and they find it hard to perform some activities. They usually fear, feel guilty and helpless, and as a result, they are need of them to visit a genetic counsellor who helps them to deal with the condition. The patients’ needs to be put under medications if genetic disorder conditions persist. Guidance and counselling for both the patient and the family members are necessary for them to accept the requirement to avoid social and psychological problems.
Reference
Abdul-Azeez, S., Al Qahtani, N. H., Almancil, N. B., Al-Amodi, A. M., Aldakeel, S. A., Ghanem, N. Z., … & Alhur, N. F. (2019). Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia. Scientific reports, 9(1), 1-8.
Baio, J., Wiggins, L., Christensen, D. L., Maenner, M. J., Daniels, J., Warren, Z., … & Durkin, M. S. (2018). Prevalence of autism spectrum disorder among children aged eight years—autism and developmental disabilities monitoring network, 11 sites, United States, 2014. MMWR Surveillance Summaries, 67(6), 1.
Findling, R. L., Stepanova, E., Youngstrom, E. A., & Young, A. S. (2018). Progress in diagnosis and treatment of bipolar disorder among children and adolescents: an international perspective. Evidence-based mental health, 21(4), 177-181.
Takahashi, N., Harada, T., Nishimura, T., Okumura, A., Choi, D., Iwabuchi, T., … & Tsuchiya, K. J. (2020). Association of Genetic Risks With Autism Spectrum Disorder and Early Neurodevelopmental Delays Among Children Without Intellectual Disability. JAMA Network Open, 3(2), e1921644-e1921644.