DOWN’S SYNDROME
Describe a patient with the condition of Down’s syndrome.
Answer: Julie, an eighteen years old female patient was diagnosed with Down’s syndrome. She was dependent on her parents for basic routine tasks like washing and dressing. These issues began to pose as more problematic day by day as it was not possible for her to go out on trips with her friends. She was unable to move out of her home due to her extreme dependency on her parents (Katemeadsassociates.com, 2016).
What is Down’s syndrome?
Answer: Down’s syndrome is a medical condition that develops as a result of Trisomy of chromosome number 21. It results in delayed mental and physical development of the affected children. Some of the affected children may require intense medical attention, whereas some children may be able to lead a relatively normal life (Kidshealth.org, 2016).
How is the condition related to the patient’s genes?
Answer: The condition develops when there is trisomy of the 21st gene, that is, there is an extra copy of the 21st chromosome.
Signs and symptoms.
Answer: Some of the symptoms of this disease are:
Short height
Reduced muscular tone
Short and wide neck
Stocky legs and arms
Slanting of eyes
Pushed in nasal bridge
Irregular teeth
Mental dwarfism
Heart defects
Celiac disease
Hypothyroidism
Constipation
Depression
Respiratory illnesses
Hearing defects
Dental problems (WebMD, 2016)
How the patient presented?
Answer: A patient with Down’s syndrome usually presents with mental and physical dwarfism. The most problematic issue that a patient of this disease and his family comes across is the inability of the patient to carry on his or her routine work without any help.
Medication that may be used, why it is being used and what type of medicine is used?
Answer: Medications are not very commonly used for the treatment of the condition. However, in some situations analgesics may be used for relieving pain. Diuretics and digoxin are used for management of CHF secondary to CHD (emedicine.medscape.com, 2016).
Is there a particular concern in caring for a patient with Down syndrome, such as safety, mobility, special equipment, etc.?
Answer: Down syndrome patients may require behavioral therapy for getting accepted socially and improve their behavioural skills. They may also require occupational therapy and exercises for improvement of their motor skills (Mychildwithoutlimits.org, 2016).
What would you teach the patient and/ or family and why?
Answer: The most important lesson for the family of the patient is not to consider the child a burden and provide him with immense love and support. A dependent child needs more care and it is important for the parents to stand strongly by the side of the affected child.
References
Down Syndrome. (2016). Kidshealth.org. Retrieved 21 June 2016, from http://kidshealth.org/en/parents/down-syndrome.html
Down Syndrome Medication: Analgesics, Other, Antidysrhythmics, Ia, Diuretics, Other. (2016).Emedicine.medscape.com. Retrieved 21 June 2016, from http://emedicine.medscape.com/article/943216-medication
Down Syndrome Treatment. (2016). Mychildwithoutlimits.org. Retrieved 21 June 2016, from http://www.mychildwithoutlimits.org/understand/down-syndrome/down-syndrome-treatment/
Down Syndrome-Symptoms. (2016). WebMD. Retrieved 21 June 2016, from http://www.webmd.com/children/tc/down-syndrome-symptoms
Teenager with Down's Syndrome | Case Study. (2016). Katemeadsassociates.com. Retrieved 21 June 2016, from http://www.katemeadsassociates.com/case-studies/item/downs-syndrome-child
