The Chromosomal Pathology of Down Syndrome Essay

Down syndrome is a chromosomal disorder. It is diagnosed when an extra 21st chromosome appears in the process of cell division. Down syndrome affects both, cognitive abilities and physical state. It also causes developmental disabilities. Down syndrome also creates risks for individual’s health. Contemporary medicine gives the chance to diagnose Down syndrome before the birth. Children with Down syndrome are born in the proportion 1 to 700 pregnancies. “Currently, Down syndrome (DS) is one of the most common birth defects, affecting about one in every 750 live births” (O’Connonor, 2008).

Most human cells contain 46 chromosomes, which make 23 pairs. Half of the chromosomes are inherited from each parent. Only reproductive cells, which are sperm cells and ova, contain 23 individual chromosomes. In the process of fertilization fertilized egg contains 23 chromosome pairs.  The error in meiosis becomes the most common reason for the chromosomal anomaly.   In this case, too few or too many chromosomes enter a gamete. People with Down syndrome have three copies of the 21st chromosome.

Down syndrome is caused by an error in cell division. In 88% of cases, additional chromosome derives from mother’s chromosomes (Skully, 2014).  The number of factors creates additional risks. “There may be an increased likelihood of Down syndrome in future pregnancies when the mother has had a child with translocation trisomy 21. An older mother is more likely to have a baby with Down syndrome but, since older mothers have fewer babies, about 75% of babies with Down syndrome are born to younger women” (Skully, 2014, p. 110). People with Down syndrome usually have low muscle tone,, short stature, brachycephaly, widely spaced eyes and flat nasal bridge.

In general, chromosomal animalities are often associated with physical or mental impairments. Down syndrome is not an illness, but a state, which describes a condition, when the person has an extra copy of the 21st chromosome.  Down syndrome can be described with the terms of features and characteristics, rather than symptoms.  People with Down syndrome often have developmental delays. They may have a different degree of intellectual disability. At the same time, the degree of cognitive and intellectual disability can vary. In general, children with Down syndrome show worse academic progress than their peers. They may have a speech delay and problems with the language acquisition. In some cases, speech therapy should be applied in order to help children with Down syndrome an expressive language. Delay with the development of fine motor skills is also common for children with Down syndrome. Usually, the development of fine motor skills follows after gross motor skills are acquired.

Behavioral problems may include attention problems, stubbornness, and obsessive-compulsive behavior. In addition, a small percentage of people with Down syndrome may have autism spectrum disorders. Disorders of this spectrum influence communicative and social abilities. People with Down syndrome may experience a decline in thinking abilities. Down syndrome also creates additional risks for the development of Alzheimer disease.

Down syndrome affects not only development and cognitive skills. It also affects physical health and functioning of different systems and organs. “Approximately 50% have congenital cardiac disorders (atrial septal defect, mitral valve prolapse or, less often, atrioventricular and ventricular septal defect) and associated early onset of pulmonary hypertension.   Mitral valve prolapse can lead to arrhythmias, embolism or sudden death” (Scullym 2014, p. 109).  Down syndrome influences the development of seizure disorders. Dementia or memory loss also affects people with Down syndrome oftener, than people without this condition.   Different kinds of immune disease and immune dysfunctions are common for people with Down syndrome. Immune defects may cause skin infections, infections of gastrointestinal and respiratory tracts, and different kinds of, periodontal diseases (National Down Syndrome Congress ).

Parents who have children with Down syndrome should get all necessary assistance. It is important to create friendly and supportive surrounding for children with Down syndrome. Usually, communities have different kinds of supporting organizations, which can give help and provide early interventions for children with Down syndrome.  Early intervention is highly recommended for children with Down syndrome. Early intervention assumes the system of services, designed in order to help infants and toddlers with disabilities. The system of early intervention is regulated by the Individuals with Disabilities Education Act (IDEA). The individual plan should be developed for each family, which has children with disabilities.  The Individualized Family Services Plan should be developed in order to meet all child’s needs. The plan should contain information about both – child’s needs and the needs of the family.  As soon as the diagnosis is confirmed by the pediatrician, the family can address to the local organization for help. IDEA also requires that all children with disabilities had the chance to address free special education and related services until they turn 21. Each community has local intervention programs. Children with Down syndrome need supportive and friendly environment. They also may need additional developmental programs and assistance. Usually, their families or caregivers are expected to provide such services. In the case, if families fail to provide children normal living conditions and help with development, the social organization should take special control over the situation. Children with disabilities sometimes may be abused by their parents and caregivers. It is important to determine the fact of abuse and take necessary measures. “There are four main types of child abuse: neglect and emotional, physical, and sexual abuse. Medically, each is approached differently, but all require that the physician report suspicions appropriate authorities and involve other members of the healthcare community” (McDonald, 2007, p. 222). Children with Down symptom may experience different kinds of abuse. Social services should implement additional control measures, as soon as any kind of abuse is suspected. As soon as physical abuse is suspected, the physician should report the case to the authorities. Diagnostic tests should be performed in order to check up information about possible physical abuse.  Further management should include the control of medical services, social works, and Child Protective Services.

 

References

O’Connor, C. (2008) “Trisomy 21 causes Down syndrome”. Nature Education 1(1):42

McDonald, K. C. (2007). “Child Abuse: Approach and Management”,  American Family  Physician,   Jan 15;75(2):221-228.

Meisels S. J. and Shonkoff J. P. (eds.) 1992, “Handbook of Early Childhood Intervention.” Cambridge University Press.

National Down Syndrome Congress. (n.d.). New and expectant parents. Available online at: http://www.ndsccenter.org/new-and-expectant-parents/

Scully, C.,  Impairment and disability (2014). Scully’s Medical Problems in Dentistry (Seventh Edition),

The terms offer and acceptance. (2016, May 17). Retrieved from

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"The terms offer and acceptance." freeessays.club, 17 May 2016.

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freeessays.club (2016) The terms offer and acceptance [Online].
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"The terms offer and acceptance." freeessays.club, 17 May 2016

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"The terms offer and acceptance." freeessays.club, 17 May 2016

[Accessed: March 28, 2024]

"The terms offer and acceptance." freeessays.club, 17 May 2016

[Accessed: March 28, 2024]

"The terms offer and acceptance." freeessays.club, 17 May 2016

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