Down syndrome or Down’s syndrome, also known as Trisomy 21, is a disorder in which a child is born with an extra copy of their 21st chromosome. This causes disabilities and developmental delays.
The newborn may experience difficulties with their mental and physical development as a result of this additional copy, which alters how their body and brain grow.
Even though some individuals with Down syndrome may act and appear alike, each one has unique skills. People with Down syndrome typically have mild to moderate low IQs (a measure of intelligence) and speak more slowly than other children.
Numerous impairments are permanent and might reduce life expectancy. But even those with Down syndrome can lead happy, healthy lives.
There are numerous options to assist in overcoming the obstacles associated with this illness, thanks to recent medical advancements as well as institutional and cultural support for people with Down syndrome and their families.
Types of Down Syndrome
- Trisomy 21
Instead of the typical 2 copies of chromosome 21, each cell in the body of a person with this kind of Down syndrome has 3 copies. This type of Down syndrome is the most prevalent.
- Mosaicism
“Mosaic” is a term for mixture or combination. Some of the cells in children with mosaic Down syndrome have three copies of chromosome 21, while other cells have the standard two copies. The characteristics of other Down syndrome children may also apply to children with mosaic Down syndrome. However, because some of them have cells with a typical number of chromosomes, they might have fewer symptoms of the illness.
- Translocation
Children with this kind of Down syndrome only have an additional portion of chromosome 21. This happens when an extra chromosome 21 is present, but it is not a separate chromosome 21; rather, it is attached or “translocated” to another chromosome.
Signs and Symptoms of Down Syndrome
Babies with Down syndrome typically exhibit some distinguishing characteristics at birth, such as:
- Flat facial features
- small head and ears
- Short neck
- Bulging tongue
- Eyes that slant upward
- Atypically shaped ears
- Poor muscle tone
- Tiny white spots on the iris of the eye
- Small hands and feet
- A single line across the palm (palmar crease)
- Small pinky fingers that sometimes curve toward the thumb
The development of a kid with Down syndrome is slower than that of a child without the disorder, even if they are born at an average size.
Commonly, minor to moderate developmental disabilities are seen in people with Down syndrome. Delays in the child’s mental and social development could indicate:
An infant with Down syndrome can be born of average size but will develop more slowly than a child without the condition.
People with Down syndrome usually have some degree of developmental disability, but it’s often mild to moderate. Mental and social development delays may mean that the child could have:
- Impulsive behavior
- Poor judgment
- short attention span
- Slow learning capabilities
Causes of Down Syndrome
In every instance of conception, both parents contribute genes to their offspring. Chromosomes contain these genes. Each of the baby’s cells is expected to receive 23 pairs of chromosomes, totaling 46 chromosomes, as it develops. The mother and father each contribute half of the chromosomes.
One chromosome fails to split properly in children with Down syndrome. Instead of two copies, the newborn has three copies of chromosome 21 or an additional half copy. As the brain and physical characteristics grow, this additional chromosome presents issues.
Risk Factors of Down Syndrome
Physical characteristics and developmental difficulties that can emerge in people with Down syndrome are caused by the extra copy of chromosome 21.
Researchers are aware that one extra chromosome causes Down syndrome, but they are unsure of the exact reason or the multiplicity of contributing factors.
The mother’s age is one factor that raises the chance of having a kid with Down syndrome. However, the majority of children with Down syndrome are born to mothers under the age of 35 because there are many more births among younger women.
Women who are 35 years of age or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. According to research, a father’s age also matters. Fathers over 40 had a twofold increased risk of having a kid with Down syndrome.
In addition, the following parents are more likely to have a child with Down syndrome:
- People with a family history of Down syndrome
- People who carry the genetic translocation
It’s important to remember that none of these factors means that a couple would have a baby with Down syndrome. However, statistically and over a large population, they may increase the chance that they do.
Complications of Down Syndrome
Down syndrome is frequently accompanied by medical issues. These may consist of:
- Congenital heart defects
- Hearing loss
- Poor vision
- Cataracts
- Hip problems, such as dislocations
- Leukemia
- Chronic constipation
- Sleep apnea
- Dementia
- Hypothyroidism
- Obesity
- Late tooth growth, causing problems with chewing
- Alzheimer’s disease later in life
Additionally, infection risk is higher in those with Down syndrome. They might have trouble with skin infections, urinary tract infections, and lung infections.
Diagnosis of Down Syndrome
As a standard component of prenatal treatment, Down syndrome screening is readily available. A woman over the age of 35, a father over the age of 40, or a family history of Down syndrome are all good candidates for the screening test.
- First Trimester. Blood testing and an ultrasound examination can check for Down syndrome in the fetus. Compared to tests performed at later stages of pregnancy, these tests show a higher likelihood of false positives. After the 15th week of pregnancy, the doctor might perform an additional amniocentesis if the results aren’t normal.
- Second Trimester. A quadruple marker screen (QMS) with ultrasonography can help detect Down syndrome and other brain and spinal cord abnormalities. This test is performed between 15 and 20 weeks of pregnancy. The fetus is at high risk of having birth abnormalities if any of these tests come back abnormal.
- Additional Prenatal Tests
- Amniocentesis. The doctor collects an amniotic fluid sample to count the chromosomes in the unborn child. Typically, the test is performed at 15 weeks gestation.
- Chorionic villus sampling (CVS) To examine the fetal chromosomes, the doctor will extract cells from the mother’s placenta. This test is performed between the ninth and fourteenth weeks of pregnancy. It can raise the risk of miscarriage by less than 1%.
- Percutaneous umbilical blood sampling (PUBS, or cordocentesis) Blood will be drawn from the umbilical cord, and the doctor will check it for chromosomal abnormalities. This is done after the 18th week of pregnancy. This test is only done if the other tests are inconclusive because of the higher risk of miscarriage.
Since there is a chance of miscarriage, some women decide against having these tests done. Instead of losing the pregnancy, they would rather have a child with Down syndrome.
- Test at birth. At birth, the doctor will:
- Perform a physical examination of the newborn baby.
- Order a blood test called a karyotype to confirm Down syndrome.
Treatment for Down Syndrome
Although there is no treatment for Down syndrome, there are numerous support and educational initiatives that can benefit both those who have the disorder and their families. Interventions begin in their infancy with the services that are currently available. Counseling programs for eligible families are also widely available.
Special education instructors and therapists work with the child in these programs to aid in learning:
- Sensory skills
- Social skills
- Self-help skills
- Motor skills
- Language and cognitive abilities
Children with Down syndrome often meet age-related milestones. However, they may learn more slowly than other children.
Regardless of intellectual aptitude, attending school is a crucial component of life for a child with Down syndrome. Public and private schools provide integrated classrooms and special education options to serve individuals with Down syndrome and their families. Students with Down syndrome benefit from great socializing opportunities at school and develop critical life skills.
Living with Down Syndrome
- People with Down syndrome are now living far longer than they once did. In 1960, a child born with Down syndrome frequently did not live to see their tenth birthday. Today, people with Down syndrome can expect to live an average of 50 to 60 years.
- To successfully raise a child with Down syndrome, parents need to develop a close working relationship with medical experts who are familiar with the particular difficulties this disease presents. Along with more serious issues such as leukemia and heart disease, people with Down syndrome may need to be protected from common infections such as colds.
- Nowadays, more than ever, people with Down syndrome lead longer, more fulfilling lives. Even though they frequently experience a particular set of difficulties, they may nonetheless go through those.
Nursing Diagnosis for Down Syndrome
Nursing Care Plan for Down Syndrome 1
Delayed Growth and Development
Nursing Diagnosis: Delayed Growth and Development related to impaired ability developmental tasks secondary to Down syndrome as evidenced by activity restriction and environmental and stimulation deficiencies.
Desired Outcomes:
- The patient will be able to respond and react to environmental stimulation.
- The patient will be able to express interests in people and activities that surround him or her.
- The patient will be able to show interest in attending a school that is as free of restrictions as possible.
- The patient will be able to interact and communicate with his or her family members.
| Nursing Interventions for Down Syndrome | Rationale |
| 1. Assess the patient’s developmental levels at intervals appropriate for down syndrome. | This will help provide evidence of the patient’s progress that will help evaluate the care plan that will help improve the deficit in the patient’s growth and development. |
| 2. Assess the family’s feelings about the patient’s condition and the family’s feelings about the required treatment for the patient’s condition. | This intervention will encourage acceptance and adjustment to the patient’s abilities and health status. |
| 3. Encourage the patient to participate in age-related activities that will help in strengthening gross and fine motor development, and sensory and cognitive development. | Participation of the patient in these activities will enhance growth and development and will provide needed stimulation for the patient. |
| 4. Refer the patient to an occupational therapist as needed and as appropriate. | An occupational therapist will help in improving the patient’s physical, cognitive and social abilities. |
| 5. Advise the patient’s family to do regular hearing and vision testing that may cause developmental delay. | A patient that experiences hearing and vision problems may cause developmental delay, therefore regular tests are required to ensure that appropriate intervention and treatment are provided for the patient and to ensure that the underlying cause is dealt with. |
Nursing Care Plan for Down Syndrome 2
Nursing Diagnosis: Self-Care Deficit related to cognitive impairment secondary to Down syndrome as evidenced by an inability in dressing, bathe, eat, and toilet.
Desired Outcome: The patient will be able to safely accomplish self-care activities to his or her utmost capability.
| Nursing Interventions for Down Syndrome | Rationale |
| 1. Evaluate the patient’s strength to perform activities of daily living efficiently and safely daily by using proper assessment tools. | Evaluating the patient’s capacity to do activities is important because a patient with down syndrome may only need minimal help with some self-care measures. |
| 2. Assist the patient in self-care measures such as eating, tooth brushing, toileting, bathing, and dressing. | A patient with down syndrome should learn these skills to help the patient gain self-esteem from accomplishing these tasks. |
| 3. Instruct the parents or the caregiver to supervise and stay with the patient during bathing. | Staying with the patient will help in keeping the patient safe. Instructing the parents and the caregiver is important to ensure that the patient has an adequate amount of support while the patient is doing activities of daily living at home. |
| 4. Advise and encourage the patient to perform energy conservation techniques. | Energy conservation techniques will reduce fatigue and will improve the patient’s capability to do tasks. |
| 5. Advise and instruct the parents or the caregiver to provide ample time for the patient to finish self-care activities. | Allowing the patient to finish self-care measures will give the patient confidence and a feeling of self-worth. Giving the patient sufficient time to perform activities of daily living and avoiding rushing the patient can reduce the patient’s stress. |
| 6. Instruct and teach the patient to use assistive devices and grooming as indicated. | Assistive devices will help in promoting autonomy when the patient is performing self-care and daily activities. |
Nursing Care Plan for Down Syndrome 3
Nursing Diagnosis: Impaired Verbal Communication related to impaired receptive or expressive skills secondary to Down syndrome as evidenced by difficulty verbalizing words and difficulty in maintaining communication skills.
Desired Outcomes:
- The patient will be able to use methods that will help him or her communicate clearly which will help in meeting his or her needs.
- The patient will be able to participate and join speech therapy which will help him or her to have effective communication.
| Nursing Interventions for Down Syndrome | Rationale |
| 1. Evaluate the patient’s needs and give attention to the patient’s nonverbal cues. | The nurse should give enough time to attend to all the patient’s needs because care measures for patients with down syndrome may take a long time because of a communication deficit. |
| 2. Be calm and maintain an unhurried manner and provide ample time for the patient to respond or speak. | Hurrying up the patient when speaking will make it less clear and communication will be compromised. |
| 3. Keep away distractions including televisions and radio when talking and communicating with the patient. | Removing distractions will help in maintaining the patient’s focus and will reduce the stimuli going to the patient’s brain for interpretation. |
| 4. Provide and use an alternative means of communication such as flashcards, whiteboards, hand signs, or a board with pictures. | Alternative ways of communication allow the patient to express himself or herself if the patient is experiencing difficulty speaking. |
| 5. Allow and encourage the parents or the caregiver to when doing a plan of care for the patient as much as possible. | Participation from the parents and caregivers enhances participation and commitment to the plan of care. |
| 6. Refer and coordinate the patient to a speech therapist as needed. | A patient with down syndrome may need to consult with a speech therapist that would help him or her to speak slowly and coordinate his or her lips and tongue which would help form speech sounds. |
Nursing Care Plan for Down Syndrome 4
Nursing Diagnosis: Risk for Infection related to decreased muscle tone and poor drainage of mucus secondary to Down syndrome.
Desired Outcomes:
- The patient will remain free from infection and will not display signs and symptoms of infection.
- The patient will be able to maintain normal vital signs and will maintain body defenses.
| Nursing Interventions for Down Syndrome | Rationale |
| 1. Assess for the presence, existence, and history of the common cause of infection of a patient with down syndrome. | The nurse should assess these factors that would affect the body’s normal defense that may indicate infection. |
| 2. Evaluate the patient’s skin and mucous membranes for the presence of local infection and check and monitor for signs and symptoms of infection, increase temperature, swelling, increased pain, and decreased drainage of mucus. | Signs and symptoms of local infection should be assessed to avoid the risk of infection and early detection of signs and symptoms of infection will help the nurse in formulating proper intervention. |
| 3. Check and monitor the patient’s complete blood levels, especially the white blood cell count. | If the patient’s white blood cell count is increased the result indicates the body’s effort to fight pathogens and when the patient white blood cells decrease it indicates a severe risk for infection. |
| 4. Check and note the patient’s immunization status and history. | Immunization status is important because if a person is incomplete with his or her immunization he or she may not have sufficient acquired active immunity which will also lead to an increased risk for infection. |
| 5. Advise or instruct to increase fluid intake unless it is contraindicated for the patient. | Increasing fluid intake promotes diluted urine and frequent urination, and it may also help in reducing fluid loss during fever and it helps thin secretions. |
| 6. Encourage and instruct coughing and deep breathing exercises and advise frequent position change. | Coughing and deep breathing exercises as well as frequent position change will help reduce the stasis of secretions in the person’s lungs. |
Nursing Care Plan for Down Syndrome 5
Imbalanced Nutrition: Less Than Body Requirements
Nursing Diagnosis: Imbalanced Nutrition: Less Than Body Requirements related to increased metabolic needs secondary to Down syndrome as evidenced by inadequate caloric intake and difficulty chewing and swallowing.
Desired Outcome: The patient will be able to take an adequate amount of calories or nutrients that the patient needs for normal growth.
| Nursing Interventions for Down Syndrome | Rationale |
| 1. Monitor and assess for the patient’s height and weight regularly and assess the patient’s ability to eat and swallow. | It is important to assess and monitor the patient’s weight and the patient’s ability to eat and swallow because this serves as a basis for caloric and nutritional requirements for the patient. |
| 2. Give or offer small frequent meals throughout the day as tolerated by the patient. | The patient should be given adequate time to eat and he or she is required to have between meals especially if the patient has difficulty eating or swallowing. |
| 3. Encourage and instruct the patient to have adequate fluid intake and eat high-fiber foods including wholegrain cereals, fruit, and vegetables. | A high-fiber diet and increased fluid intake help in avoiding constipation because patients with down syndrome often experience constipation. |
| 4. Encourage and offer high protein supplements based on the patient’s needs and capabilities. | High-protein supplements can be used by the patient to increase calories and protein. Proteins help in reducing muscle loss and also help in maintaining a healthy weight. |
| 5. Evaluate the patient’s eating pattern that affects the patient’s nutritional requirements. | Assessing and evaluating the patient’s eating pattern will help the nurse know the proper interventions that would be appropriate for the patient. |
| 6. Encourage and advise exercise as tolerated by the patient. | Exercise is important for patients with down syndrome because it reduces the risk for other illnesses and it also helps in metabolism and the utilization of nutrients is improved by the patient’s activity. |
Nursing References
Ackley, B. J., Ladwig, G. B., Makic, M. B., Martinez-Kratz, M. R., & Zanotti, M. (2020). Nursing diagnoses handbook: An evidence-based guide to planning care. St. Louis, MO: Elsevier. Buy on Amazon
Gulanick, M., & Myers, J. L. (2022). Nursing care plans: Diagnoses, interventions, & outcomes. St. Louis, MO: Elsevier. Buy on Amazon
Ignatavicius, D. D., Workman, M. L., Rebar, C. R., & Heimgartner, N. M. (2020). Medical-surgical nursing: Concepts for interprofessional collaborative care. St. Louis, MO: Elsevier. Buy on Amazon
Silvestri, L. A. (2020). Saunders comprehensive review for the NCLEX-RN examination. St. Louis, MO: Elsevier. Buy on Amazon
Disclaimer:
Please follow your facilities guidelines, policies, and procedures.
The medical information on this site is provided as an information resource only and is not to be used or relied on for any diagnostic or treatment purposes.
This information is intended to be nursing education and should not be used as a substitute for professional diagnosis and treatment.
