Down syndrome: Nursing

Down syndrome is a chromosomal abnormality caused by a genetic mutation leading to an extra or partial copy of chromosome 21.Now, chromosomes are molecules that carry packaged DNA information for a person, like a storage bin.

Every cell in our body has 46 chromosomes, organized into 23 pairs. During human fertilization, each parent donates half of their chromosomes to create a zygote with a total of 46 chromosomes.

But in some cases, like in Down syndrome, one parent donates an extra chromosome, leaving the zygote with 47 chromosomes.

People with Down syndrome receive an extra copy of chromosome 21, which is why Down syndrome is also referred to as Trisomy 21, or “three chromosome 21s."The exact cause of Down syndrome is unknown.

What we do know is that the likelihood of Down syndrome increases with the age of the mother. So, a 35-year-old mother is more likely to give birth to a baby with Down syndrome than a 25-year-old mother.

Down syndrome also seems to arise more often from patients who have translocation of chromosomes 15, 21, or 22, where parts of one chromosome switch places with another chromosome, creating an atypical hybrid of the two original chromosomes.

This is referred to as Robertsonian translocation.Down syndrome has a number of clinical manifestations. Several changes to the face occur.

Skin folds covering the inner corner of the eyes develop, called inner epicanthal folds, along with an upward slant in the palpebral fissure.

A depressed nasal bridge or flattening of the top part of the nose may also develop along with a protruding tongue. Speckling of the iris, known as Brushfield spots, might also appear.

People with Down syndrome may also have small ears with narrow canals.Other clinical manifestations include a shortened rib cage, umbilical hernia, and protruding or loose abdominal muscles.

People with Down syndrome typically have short stature, hyper-flexibility with muscle weakness, and atlantoaxial instability, or excessive movement between cervical vertebrae.

They also may have transverse palmar crease, or a single line that runs across the palm of the hand.People with Down syndrome are at an increased risk of developing a number of medical conditions.

They may be born with a congenital heart defect, like a ventricular septal defect, and they are more likely to develop hypothyroidism as well as blood cancers such as acute lymphoblastic leukemia.

They’re also at a higher risk of developing vision and hearing problems. Developmental and cognitive impairments may also occur, with many patients having learning difficulties, and some developing early onset dementia.Down syndrome can be diagnosed through patient history and physical examination, but a chromosomal analysis is typically performed to confirm the diagnosis.

Screening is commonly done during the prenatal period and can include chorionic villus sampling and amniocentesis. These screenings can detect the presence of trisomy or translocation in the chromosomal analysis in fetal cells.Given that there’s no cure for Down syndrome, care is focused on treating existing medical conditions and promoting optimal function.

For example, patients may have heart surgery to correct congenital heart defects, thyroid replacement for hypothyroidism, or early intervention with physical, occupational, and speech therapy, to address developmental deficits.

With continuing advances in medicine, life expectancy for these patients has increased to around 60 years.Alright, when caring for a newborn with Down Syndrome, you’ll work with an interdisciplinary team to coordinate the care for your patient and family.

To begin, focus on promoting bonding and attachment by encouraging early contact between the family and their baby. While providing care, provide clear and concise information about their baby’s characteristics and special needs.Also teach them about the tests their baby will need, including an echocardiogram to check for congenital heart defects; hearing and vision tests to check for problems like sensorineural hearing loss, congenital cataracts, or strabismus; and blood tests to measure thyroid hormones.Finally, talk to them about available support services, including early intervention programs to optimize development of motor and language skills, and community support groups.

Finally, assist them as they adjust to the loss of the baby they planned to have, and provide referrals for counseling, as needed.Alright, as a quick recap...

Down syndrome, or Trisomy 21, is a common chromosomal abnormality that occurs when a zygote receives an extra chromosome from a parent.

While the cause of Down syndrome is not well understood, women who have children later in life, and people with chromosome translocations are more likely to have children with Down syndrome.

Clinical manifestations include physical changes to the face, head, and musculoskeletal system, and there’s an increased risk of developing medical conditions affecting multiple body systems.Diagnosis is confirmed by chromosomal analysis.

While there's no cure, treatment is focused on addressing current and preventing future complications. Nursing considerations for patients with Down syndrome includes working with an interdisciplinary team to coordinate care and providing support for the family.