Introduction
A medical condition that causes structural and functional defects that occur before and after birth is referred to as a congenital abnormality. They come in various forms and may manifest as a single fault or multiple problems. Most birth complications manifest themselves during the prenatal stages or result from genetic inheritance from the parents.
Genetic problems may be brought on by either an absence of chromosomes or an excess of them, as well as by abnormalities in the structure of the chromosomes. One of the anomalies that may result in a person being born with a handicap is Down syndrome, which is also known as the duplication of chromosome 21. Dysmorphology is a subspecialty of clinical genetics investigating structural abnormalities, sometimes called congenital impairments.
Major and Minor Dysmorphology
Depending on how significant they are, these discrepancies may be further categorized as either major or minor. An abnormality results in the development of a medical condition that may influence the patient’s quality of life, health, and capacity to participate in social activities (Coutinho et al., 2020). Individually rare but prevalent in around 3% of babies in the United States, significant abnormalities or congenital disabilities are those with substantial medical, surgical, or aesthetic repercussions (Shapira et al., 2019). Malformations of the heart, anomalies of the neural tube, Down syndrome, and an uneven rearrangement of the chromosomes are all examples of significant congenital abnormalities.
On the other hand, alterations to a person’s structure might be considered minor congenital anomalies if they do not significantly impact the individual’s health (Coutinho et al., 2020). The abnormal outer look does not have any impact on the way the body normally functions. Since the impacts only last for a short period, the people affected suffer few long-term repercussions. Some instances of this condition include clinodactyly, telecanthus, macrocephaly, hypotonia, and a single palmar transverse crease.
Associated Dysmorphology
Down syndrome is a genetic condition that is one of the most prevalent and devastating forms of congenital malformation. This genetic disorder makes its initial appearance as an abnormality in the typical development of the chromosomes. During a normal reproduction cycle, each parent contributes 23 chromosomes, bringing the total number of chromosomes to 46. Those with Down syndrome have an irregular reproductive pattern because they have trisomy, a genetic condition that occurs when there are three copies of chromosome 21 in the body (Capone et al., 2018). The inclusion of the additional chromosome forces children born with this anomaly to suffer long-term problems with their cognitive and physical development.
Down syndrome is a chronic disorder, and the multiple impairments that it causes have a direct effect on the average lifetime of a person who has it. One of the associated medical conditions is atrioventricular septal defect (AVSD), which refers to a large hole in the heart’s center and may cause newborns to develop heart disease. A hole in the wall that separates the two upper chambers of the heart is known as an atrial septal defect (ASD), while a hole in the septum that separates the two lower chambers of the heart is known as a ventricular septal defect (VSD). The presence of Down syndrome is associated with an increased risk of gastrointestinal illnesses, obesity, spinal difficulties, dementia, and leukemia, amongst other health problems (Orozco et al., 2019). Consequently, individuals who have Down syndrome need much greater amounts of care and attention.
Nursing Role
A caregiver, whether a parent or a trained medical expert, who has a sufficient grasp of chromosomal issues might play a part in the patient with Down syndrome living longer. Valid questions are those about the circumstances leading to these diseases’ emergence, what symptoms typically accompany them, and what efforts should be made to treat them once they appear. If something completely unexpected occurred, having a solid understanding of the principles would put a person in a far better position to handle the situation.
Encouragement and emotional support are the second most essential things a caregiver can provide to a patient after taking care of the patient’s physical needs. To achieve this objective, parents could occasionally offer their kids additional responsibility for particular duties. In addition, it is essential to give the child credit for any effort, no matter how little, that they put out since this demonstrates that the task may be completed even if it is not carried out to one’s satisfaction.
One may be of immense assistance to a child who is afflicted with this illness by praising the efforts that they have made and acting as a source of motivation for them. As a result, the child will be motivated to work even more diligently and do even better next time. No matter what challenges life presents, if people inject themselves with the correct amount of inspiration, they can build their self-esteem and confidence. Maintaining a consistent schedule and routine as a caregiver is necessary to ensure a logical progression of duties. Children with Down syndrome are used to living an effortless lifestyle; as a result, the activities they participate in daily should mirror this simplicity.
The primary duty of the caregiver or nurse is to ensure the child obtains enough nutrition. This involves ensuring that the child consumes meals that are rich in essential nutrients and are of a suitable size for the child’s age. In this particular context, it is essential to evaluate the child’s capacity for swallowing.
It may be possible to improve the accuracy of the evaluation process by providing recommendations on diet and nutrition in environments where healthy food is easily accessible. If nothing else, caretakers may provide a hand to these children during their formative years by making them feel as if they are on par with their peers. As a result, these children will develop a greater capacity for self-sufficiency and be given the resources they need to handle their sickness and the difficulties they experience on their own.
Conclusion
In conclusion, congenital abnormalities are anomalies in body structure and function identified before or following birth and can affect single or multiple organs. Congenital abnormalities can be major or minor, depending on their severity, and they may be caused by genetic inheritance or random occurrences. Down syndrome is an example of a congenital anomaly that causes cognitive and physical impairments due to an extra copy of chromosome 21. Children with Down syndrome need significant care and attention, and caregivers or nurses must provide emotional support and encouragement in addition to physical care.
References
Capone, G., Stephens, M., Santoro, S., Chicoine, B., Bulova, P., Peterson, M., Jasien, J., & Smith, A. J. (2020). Co‐occurring medical conditions in adults with Down Syndrome: A systematic review toward the development of health care guidelines. Part II. American Journal of Medical Genetics Part A, 182(7), 1832–1845. Web.
Coutinho, C. M., Negrini, S. F. B. M., Araujo, D. C. A., Teixeira, S. R., Amaral, F. R., Moro, M. C. R., Fernandes, J. D. C. P., Motta, M. S. F., Negrini, B. V. M., Caldas, C. A. C. T., Anastasio, A. R. T., Furtado, J. M., Bárbaro, A. A. T., Yamamoto, A. Y., Duarte, G., & Mussi‐Pinhata, M. M. (2020). Early maternal Zika infection predicts severe neonatal neurological damage: Results from the prospective Natural History of Zika Virus Infection in Gestation cohort study. BJOG: An International Journal of Obstetrics & Gynaecology, 128(2), 317–326. Web.
Orozco, J. S., Hertz-Picciotto, I., Abbeduto, L., & Slupsky, C. M. (2019). Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. Translational Psychiatry, 9(1). Web.
Shapira S. K., Tian L. H., Aylsworth A. S., Elias E. R., Hoover-Fong J. E., Meeks N. J. L., Souders M. C., Tsai A. C.-H., Zackai E. H., Alexander A. A., Yeargin-Allsopp M. & Schieve L. A. (2019) “A novel approach to dysmorphology to enhance the phenotypic classification of autism spectrum disorder in the study to explore early development,” Journal of Autism and Developmental Disorders, 49(5), 2184–2202. Web.