Characteristics of Intellectual Disabilities – Genetics&Birth Defects Example

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"Characteristics of Intellectual Disabilities " is a perfect example of a paper on Genetics/Birth Defects. Mild Intellectual disability is a developmental impairment condition where the person presents with an Intelligent Quotient of 70 or below. It is classified according to severity: mild has an IQ of 55-70, moderate has an IQ of 30-55, and severe with an IQ of 30 and below (Burack, 2012). Persons with an intellectual disability present with deficits in a minimum of two of the adaptive behaviors. The adaptive behaviors include communication, self-care, learning, social skills, home living, self-direction, leisure, and work.

Among the conditions associated with an intellectual disability include Down’ s syndrome (Hinkle & Cheever, 2014). Down’ s syndrome is a chromosomal disorder with the victim presenting with an extra chromosome hence trisomy 21. People living with Down’ s syndrome present with attributes like short stature, reduced life span, a protruded large tongue, round flat face, learning disability, and an increased incidence of cardiovascular & respiratory diseases. 47% of persons with Down’ s syndrome suffer heart defects. 80% result with hearing problems mostly attributed to the increased incidence of ear infections.

Other challenges include vision problems either short, long sight, or astigmatism. Learning disability in Down’ s syndrome is also associated with poor sleeping patterns as well as it is a factor on its own. Most persons living with Down’ s syndrome tend to be obese. Other challenges are inclusive of early menopause, thyroid problems, and seizures among others. Communication problems are among other expected challenges which range from mild to severe. Improvement of communication is via skills to ensure short sentences, slow down, simple language, breaks, one idea at a go, and patience for responses.

Good physical health, good nutrition, excellent social and educational opportunities help to maximize optimum developmental changes (Wright, 2011). Diabetes mellitus is an endocrine disorder due to insulin deficiency or impaired functioning. In this case study, the patient is presenting with type II. Diabetes predisposes to complications such as renal failure, infection, blindness, cardiovascular disturbances, hypertension, stroke, diabetic macroangiopathy, and microangiopathy. Persons living with diabetes put up with challenges including diet, footwear choices, insulin injections, and exercise among others. They must adhere to specific dietary measures and anti-diabetics to avoid complications (Inzucchi et al. , 2012). ICF is the tool for weighing and classifying the level of health, functioning, and disability as per the WHO guidelines.

It is aimed at rehabilitation strategies to promote life for people living with disabilities across the lifespan. Functioning and disability are measured in accordance to the human anatomy both structural and systems. During the management of environmental factors, the cultural and social effects are considered from the immediate to the general (Waugh et. al, 2014). Down’ s syndromeBody functions and structuresa) Mental disabilitiesb) Sensory impairmentsc) Learning disabilityd) Easily fatiguede) Reduced muscle tonef) Short statureg) Large protruding tongue Activitiesa) Communicationb) Mobilec) Reaching d) Talking Participation a) Learningb) Social skillsc) Self-careEnvironmental factorsa) Lives in a community group homeb) Attends disability programc) Support workers Personal factorsa) Intelligent Quotient 30-55b) DM type IIOver the lifespan of a person living with Down’ s syndrome, several changes occur that are a potential effect on the activities and participation in life events.

The changes are inclusive of the physical, environmental, and psychological changes. During the changes, individualized caregiving is essential for effective intervention.

The interventions are aimed to promote necessary social, educational, and living skills. In some cases, relative measures create a range of services that cater to individual choices and needs. It may include supported, full-time or sheltered employment. With progressive age, he is at risk of mental illness like anxiety, depression, behavioral disorders, and obsessive-compulsive disorder among others. Mental stability is among the necessities to leading a normal life through making reasonable choices. Mental stability is attained by the use of behavior therapy that helps manage anxiety, irritability, and frustrations among others. It is also essential to an upheld social life with the community.

This is managed through regular check-ups by a psychiatric practitioner to detect variations and act promptly. People with Down’ s syndrome are at a higher risk for osteoarthritis that is painful to the joints. Therefore, the affected person is unable to be mobile and the morale to participate in activities diminishes. It is important for early diagnosis and management to promote normal living (Waugh et. al, 2014). The other change may cause hypothyroidism that translates to fatigue, weight loss, mental sluggishness, and irritability.

Obstructive apnea is another medical issue he might face. The apnea causes irritability, poor concentration, and attention. Apnea is a contribution of the narrowed throat, airway, and small mouth. Relatively, he falls asleep during the daytime disrupting daily activities. The symptoms lead to a poor living outcome with a constant inability to complete daily activities. People living with Down’ s syndrome are at increased risk of hearing and vision loss. He may avoid the complications through regular check-ups for early diagnosis and management. Hearing loss is mostly attributed to the characteristic small ear canals that research connected to Down’ s syndrome.

The small canals allow easy wax impaction hence the conductive hearing loss. Additionally, repeated cases of celiac diseases for persons living with Down’ s syndrome are high hence creating an alarm. The condition causes certain nutrients absorption impossible. The nursing and medical staff in charge should ensure some tests are frequently requested to prevent complications. The tests include thyroid levels, vision tests, and hearing tests (Waugh et. al, 2014). Since the 1990s, scientist's research on the brain has developed information on the formation of Alzheimer-like plaque between the early and middle age life of persons with Down’ s syndrome.

The discovery has been connected with dementia whose incidence is relatively high too. Early diagnosis is via AMBEX-DS informative intervention and CAMCOG neuropsychological assessment (Wright, 2011). Following the DM, there is a dire need for management to avoid complications. Management is aimed to maintain the blood glucose levels within a normal range that is a pre-prandial 90-130 milligram per deciliter. Several factors are considered inclusive of nutrition, physical activity, self-monitoring, insulin & drugs, vascular complications, and hypertension.

The diet of a patient with diabetes type II is advised to be consistent with high fiber, vegetables, fruits, whole grain, low-fat dairy products, and oily fish. Also, the patient is advised to have a minimal dietary content of animal products. Following the increased incidence of obesity with people living with Down’ s syndrome, his cholesterol levels have a high incidence to be high. Encourage him to practice physical exercise to help maintain low cholesterol levels. Aerobic and resistance exercise is preferable precisely for at least 30 minutes five days a week.

The aerobic exercise includes walking, dancing, biking, running, jogging, tennis, basketball, swimming, and yoga as a resistance exercise (Inzucchi et al. , 2012). Exercise allows muscles to use glucose without the need for insulin hence reducing the blood glucose level. It has proven most effective especially with insulin resistance as the cause in that it reduces insulin resistance. Although exercise is a major intervention, it raises the chances of hypoglycemia due to increased glycogen synthesis. Urine tests during essential to ensure ketones are absent. Treatment is either by insulin jabs or drugs.

The drugs include metformin, thiazolidinediones, DPP-4 inhibitors, GLP-1 receptors agonist among others (Inzucchi et al. , 2012). During self-care, the staff and nurses should empower him to take part during care although under supervision. This includes blood glucose monitoring and insulin administration. Following his Down’ s syndrome and intellectual disability, his care is always advised under supervision. Encourage regular blood pressure monitoring to detect deviation from normal (120/80). The major complication of Diabetes type II is the Hyperosmolar Hyperglycemic Nonketotic Syndrome (HHNS) which is characteristic with blood glucose greater than 600 milligrams per deciliter.

The syndrome leads to dehydration, increased osmolarity, and sometimes coma and death as an outcome. The signs and symptoms of HHNS include extreme thirst, dry mouth, fever greater than 101 F, dark urine, hallucinations, confusion, and drowsiness. Early diagnosis and management are crucial so as to avoid hypoglycemia as well as hyperglycemia during the management of Diabetes type II (Inzucchi et al. , 2012). In conclusion, as well as he puts an effort to minimize effects of the Down’ s syndrome and intellectual disability, management of diabetes is essential to leading a normal life.

(Burack, 2012). As well exercise plays a major role in the management of Diabetes type II, it contributes to stress management and better sleep. This comes in handy during the management of his pre-existing Down’ s syndrome and intellectual disability. All in all individualized care is important during care to ensure effectiveness and early diagnosis and management of complications of all the pre-existing conditions. The care applies to both the medical staff as well as the family and community members. Positive reinforcement is crucial to promote participation and raise his self-esteem (Hinkle & Cheever, 2014).


Boyko, E. J. (2013). Type 2 diabetes. London: Henry Stewart Talks.

Burack, J. A. (2012). The Oxford handbook of intellectual disability and development. New York: Oxford University Press.

Hinkle, J. L., & Cheever, K. H. (2014). Brunner & Suddarth's textbook of medical-surgical nursing. Philadelphia: Lippincott Williams & Wilkins.

Inzucchi, S. E., Bergenstal, R. M., Buse, J. B., Diamant, M., Ferrannini, E., Nauck, M., ... & Matthews, D. R. (2012). Management of hyperglycemia in type 2 diabetes: a patient-centered approach position statement of the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). Diabetes care, 35(6), 1364-1379.

Waugh, A., Grant, A., Chambers, G., & Ross, J. S. (2014). Ross and Wilson anatomy & physiology in health and illness.

Wright, D. (2011). Downs: The history of a disability. Oxford: Oxford University Press.


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