This is an essay on Down syndrome, also known as trisomy 21 which is an abnormality of chromosome 21 that causes mental retardation, short stature, microcephaly, and characteristic facies. Diagnosis is suggested by the physical anomalies and abnormal development that is proved by karyotype examination before the child is born. Also diagnosis may be suspected prenatally depending on the physical anomalies detected by fetal ultrasound like nuchal translucency or based on abnormal levels of plasma protein A in late 1st trimester and α-fetoprotein, unconjugated estriol, β-hCG (human chorionic gonadotropin), and inhibin early on the 2nd trimester through maternal serum screening. In situations where diagnosis is not done prenatally, then neonatal diagnosis is based on physical anomalies which can be confirmed by karyotype analysis. The signs and symptoms, modes of prevention, treatment and nursing care of the persons with Down syndrome and the roles of parents are discussed in the essay (National Institute of Health, 2010; Heyn, 2010).
Down syndrome cannot be prevented. The only thing parents who are going to have a child with Down syndrome can do is to prepare for his or her special needs through: learning about the condition; finding a doctor who has experience of caring for children with the disorder; and joining a support group (Selikowitz, 1997).
Signs and symptoms
The general physical symptoms of Down syndrome include: flat face with an upward slant to the eye; abnormally shaped ears, short neck; loose ligaments; small feet and hands; poor muscle tone; deep crease in the palm of the hand and white spotted iris.
Other health situations that often manifest in people with Down syndrome include: congenital heart disease, celiac disease; eye problems like cataracts; thyroid dysfunctions; hearing problems; skeletal problems; dementia and intestinal problems like blocked small bowel or esophagus. Even if the physical and mental features are common in people with Down syndrome, some symptoms can range from mild to severe. The mental and physical developments are often slower in people with Down syndrome than in those without it this disorder. A disability known as Intellectual and Developmental Disabilities (IDDs) which causes limits on intellectual abilities and adaptive behaviors like conceptual, social, and practical skills is common in these people. Thus the majority of people with Down syndrome have IQs that lie in the range of mild to moderate of IDDs. Others may have prolonged language development and slow motor development (Heyn, 2010).
Down syndrome is a genetic disorder that up to date has no specific treatment or cure. Though, early detection can assist a lot of people with Down syndrome live productive lives old age.
The type of treatment administered depends on the specific symptoms. Hypothyroidism can be treated with thyroid hormone replacement and congenital cardiac anomalies can be restored surgically. Also children suffering from Down syndrome can frequently gain a lot from occupational therapy, speech therapy, and exercises for gross and fine motor expertise. At the same time, those children can be assisted by providing them with special education and attention at school, and by integrating them into regular classes at schools. Finally, any treatment given must incorporate genetic counseling for the family, social support, and educational programming suitable for the level of their intellectual functioning (Margulies, 2006).
Nursing care for the child and parents
The person suffering from the disorder should regularly see a doctor in order to assess for the associated problems. After the check up, the doctor administers medications which maybe prescribed for any associated problems found. A plan of care is implemented that is the same as for mentally retarded people. Planning and intervention strategies for the related problems and features must be made.
Genetic counseling on both parents and the child is encouraged. Hypertonicity and joint hyperextensibility should be made clear to the parents, and that the child's consequential lack of clinging is physiologic and not a sign of detachment.
Respiratory infections are put off by clearing the nose with a bulb syringe, using a cool mist vaporizer, doing chest physiotherapy when required, ensuring thorough hand washing and staying away from exposure to infection.
A small, straight-handled spoon for pushing food to the side and back of the mouth should be used when feeding toddlers and young children. Since difficulties in feeding occur because of a protruding tongue and hypotonia. Fluids and foods rich in fiber are highly recommended since constipation is as a result of decreased muscle tone which has an effect on gastric motility. Good skin care is also ensured because the skin in most times is dry and prone to infection (Cohen, Nadel & Madnick, 2002).
Down syndrome is an anomalous of chromosome 21 that causes mental retardation, short stature, microcephaly, and characteristic facies. Thus it is a genetic disorder that cannot be prevented or treated. Diagnosis can be done prenatally through karyotype examination or depending on the physical anomalies detected by fetal ultrasound like nuchal translucency or based on abnormal levels of plasma protein A in late 1st trimester and α-fetoprotein, unconjugated estriol, β-hCG and inhibin early on the 2nd trimester through maternal serum screening.
Also after birth, diagnosis is based on physical anomalies which can be confirmed by karyotype analysis. The parents of a child with Down syndrome should be appropriately counseled. If they are provided with positive guidance, most of them will be able to adjust and cope well and they will be able to look after the child's best possible physical and mental well-being. If a person with Down syndrome shows signs of a cruel behavior or psychiatry disorder, professional help and appropriate treatment should be sought immediately. It is vital that the person with Down syndrome lives in a nurturing environment that upholds self-confidence, self-esteem and avoids undue stressful situations.