Trisomy 21 (Down Syndrome) Flashcards
Pathophysiology of Trisomy 21
A disorder caused by nondisjunction or translocation before, at, or after conception
An extra chromosome originates in the development of either the egg or sperm, resulting in an embryo with three chromosome 21s in all cells
Risk Factors for Trisomy 21
- Lack of prenatal care or screening
- Abnormal prenatal screening or diagnostic tests for Down syndrome
- Maternal age older than 35 years
Signs and Symptoms of Trisomy 21
- Hypotonia
- Short Stature
- Flatten Occiput
- Small Head
- Flat facial profile
- Depressed nasal bridge and small nose
- Upward slant to the eyes
- Brushfield spots (white spots on iris of the eye)
- Low-set small ears
- Abnormally shaped ears
- Small mouth
- Protrusion of tongue (larger)
- Arched, narrow palate
- Hands with broad, short fingers
- Congenital heart defect
- Short neck, with excessive skin at the nape
- Hyperflexibility and looseness of joints
- Epicanthal folds
Complications of Trisomy 21
- Congenital Heart Disease
- Hearing and Vision Impairment
- Obstructive sleep apnea
- Thyroid Disease
- Atalantoaxial Instability
- Hematologic Problems (anemia, transient leukemia, polycythemia)
- Higher susceptibility to infection and a higher mortality rate from infectious diseases
- Gastrointestinal Disorders
- Obesity
- Higher risk for Diabetes
- Delayed dental eruptions or hypodontia
Early Interventions
- Specialized Programs
> Involve array of healthcare professionals
> Encourage and accelerate developmental delays
> Conditions such as hypotonia, ligament laxity, decreased strength, enlarged tongue and short arms and legs are common in children with Down syndrome - Parents benefit in terms of support, encouragement, and information
> Teach parents how to interact with their child while meeting child specific needs and encouraging development
Nursing Assessment
Health History:
> Questions related too:
1. Cardiac defects
2. Hearing or Vision impairment
3. Development Delays
4. Sucking or feeding problems
5. Cognitive Abilities
6. Gastrointestinal Disorders
7. Thyroid Disease
8. Hematologic Problems
9. Atlantoaxial instability
10. Seizures
11. Infections
12. Growth
13. S/Sx of sleep apnea
14. Changes in physical state or medication regimen
Physical Examination:
> Observe general appearance
> Note lack of muscle tone and loose joints (more pronounce in infancy; floppy appearance)
> Observe growth and development
> Look at sequence of milestones rather than the age at which they were achieved
> Perform a subjective assessment of hearing
> Assess vision
> Assess respiratory and cardiac status
> Auscultate for murmurs and pulmonary changes that can indicate congenital heart disease
Diagnostic Testing
> Between 11-14 weeks using ultrasound and blood test
Between 16-18 weeks using triple/quadruple blood test
Echocardiogram
Vision and Hearing screening
Thyroid hormone level
Cervical radiographs
Ultrasound
Interventions: Promoting Growth and Development
> Nurses play a key role in connecting families with appropriate resources
The sooner early intervention programs begin, the better for the child
Speech and language therapy, occupational therapy and physical therapy are important in promoting growth and development
Special education should fit the child’s individual needs
Interventions: Preventing Complications
> Have child evaluated by a pediatric cardiologist, including an echocardiogram
Take your child for routine vision and hearing test
By 6 months, have your child seen by a pediatric ophthalmologist
Make sure your child gets regular medical care, including recommended immunizations and a thyroid test at 6 and 12 months and then yearly
Have your child follow a regular diet and exercise routine
Make sure all family members perform hand hygiene to prevent infection
Monitor signs and symptoms of respiratory infections (pneumonia and otitis media)
Begin early interventions, therapy and education as soon as possible
Make sure child brushes teeth regularly. Should visit dentist every 6 months
Make sure the child gets a cervical radiograph between 3 and 5 years of age to screen for atlantoaxial instability. Report any changes in gait or use of arms and hands, weakness, changes in bowel or bladder function, complaints of neck pain or stiffness, head tilt, torticollis, or generalized changes in function
Interventions: Promoting Nutrition
Difficulty sucking and feeding due to lack of muscle tone. They tend to have small mouths; a smooth, flat, large tongue; and due to the underdeveloped nasal bone, chronically stuffy noses
> Use of bulb syringe, humidification, and changing the infant’s position can lessen the problem
Breastfeeding a baby with Down Syndrome is usually possible and the antibodies in breast milk can help the infant fight infection
The caregivers hand can be used to provide additional support to the chin and throat
Speech Occupational Therapists can work on strengthening muscles and assist feeding accommodations
Other feeding problems and failure to thrive can be related to cardiac defects and usually improve after medical management
A BALANCED, HIGH FIBER DIET and REGULAR EXERCISE are important
High fiber intake is important because the lack of muscle tone may decrease gastric motility, leading to constipation
May need special diet is gastrointestinal disease (celiac disease) is present
Interventions: Providing Support and Education for the Child and Family
> Evaluate how family defines and manages this experience (blessing vs. curse)
Base plan of care on individual family’s values, beliefs, strengths and resources
Include parents in planning interventions and care for the child
Recognize and respect the needs as the child grows and provide ongoing education and support for the child and family
Be familiar with local and national resources for families and children with Down Syndrome so you can help the child reach their full potential
