Chromosomal Pathology of Down Syndrome
Chromosomal Pathology of Down Syndrome
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). Chromosomal Pathology of Down Syndrome
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.
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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.Chromosomal Pathology of Down Syndrome
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 ).
