Down Syndrome Overview
This course is intended as a Quick Reference for Down syndrome and will cover an overview and nursing considerations utilizing the nursing process.
Down Syndrome Etiology and Epidemiology
Down syndrome (Trisomy 21) is a genetic disorder that occurs when abnormal cell division creates an extra full or partial copy of chromosome 21. Instead of 46 chromosomes that a neonate is usually born with, these neonates have 47 chromosomes.
There is no known cause of Down syndrome, but risk factors include a maternal age greater than 35, as there is an increased incidence with increased maternal age. Down syndrome affects 6,000 babies (0.14% of births) in the U.S. annually (CDC, 2021). Life expectancy has improved for individuals with Down syndrome, and they can live past their 60s.
Physical features of individuals with Down syndrome include:
- Abnormal fingerprints and footprints
- Absent frontal and sphenoid sinuses
- Brachycephaly
- Broad, short hands with a single crease in the palm
- Cryptorchidism
- Decreased distance between nipples
- Diastasis recti and umbilical hernia
- Excessive flexibility
- Flattened face
- Hypotonia
- Increased space between the great and second toe
- Large fontanels with late closure
- Microcephaly
- Obesity
- Protruding tongue
- Relatively short fingers, height, and neck
- Small hands, feet, and head
- Small or unusually shaped ears
- Tiny white spots on the iris (Brushfield's spots)
- Upward slanting eye lids (palpebral fissures)
Intellectual disabilities because of Down syndrome may include:
- Behavioral problems
- Impulsive behavior
- Language and speech may be delayed
- Mild to moderate cognitive impairment
- Problems with short and long-term memory
- Short attention span
Complications from Down syndrome include:
- Dementia
- Dental problems
- Endocrine problems
- Hearing loss
- Heart defects
- Gastrointestinal defects
- Immune disorders
- Leukemia
- Sleep apnea
- Spinal problems
- Vision problems
Down Syndrome Diagnosis
- Screening tests
- Serum screening
- Ultrasound
- Diagnostic tests
- Amniocentesis
- Examines the amniotic fluid
- Chorionic villus sampling (CVS)
- Examines material from the placenta
- Percutaneous umbilical blood sampling (PUBS)
- Examines umbilical cord blood
- Amniocentesis
Down Syndrome Management
Services and therapy to help individuals with Down syndrome include:
- Occupational
- Physical
- Speech
Down Syndrome Nursing Care Plan
Nursing Considerations
Use the nursing process to develop a plan of care for individuals. The nursing assessment (with common findings listed), diagnosis, interventions, expected outcomes, and education for individuals with Down syndrome are listed below.
Assessment
- History
- Behavioral changes
- Chest pain
- Delays in:
- Cognitive abilities
- Development (motor and language, especially expressive skills)
- Hearing
- Social competence
- Vision
- Fainting episodes
- Frequent respiratory infections
- Poor feeding
- Sleep / wakefulness issues
- Daytime somnolence
- Difficulty waking
- Neonatal lethargy
- Restlessness during sleep
- Snoring
- School problems
- Vomiting
- Physical Examination
- Abnormal fingerprints and footprints
- Absent frontal and sphenoid sinuses
- Articulatory problems
- Behavior
- Cheerfulness
- Gentleness
- Genuine warmth
- Natural spontaneity
- Patience
- Tolerance
- Behavioral problems
- Brachycephaly
- Cryptorchidism
- Decreased distance between nipples
- Diastasis recti and umbilical hernia
- Distal axial triradius in the palms
- Dry, sensitive skin
- Dysrhythmia
- Ears that are small with a hyperfolded helix
- Elastosis perforans serpiginosa
- Flat occiput
- Hyperextensible finger joints
- Hypoplasia of the maxillary sinuses
- Hypoplastic nasal bone and flat nasal bridge
- Hypospadias
- Hypotonia
- Increased space between the great and second toe
- Large fontanels with late closure
- Localized hyperkeratotic lesions
- Microcephaly
- Micropenis
- Moderate to severe intellectual disability
- Obesity
- Open mouth with a tendency for tongue protrusion
- Palpitations
- Patent metopic suture
- Pattern in hypothenar
- Renal malformations
- Short, broad hands
- Short extremities
- Short neck with excessive skin
- Short stature
- Signs of premature aging
- Single flexion crease in the fifth finger
- Slanting almond-shaped eyes
- Sleep apnea
- Sloping forehead
- Teeth maturation problems
- Transverse palmar creases
- Vitiligo
- Xerosis
Nursing Diagnosis/Risk For
- Altered parenting
- Compromised family coping
- Delayed growth and development
- Ineffective health maintenance
- Infection
- Injury
- Self-care deficit
Interventions
- Administer medications, as ordered.
- Encourage individual to perform activities of daily living as independently as possible.
- Explain diagnosis and expectations.
- Initiate safety and infection precautions.
- Maintain calm environment.
- Monitor the following:
- Adverse reactions or complications
- Treatment response
- Vital signs
- Teach coping techniques
Expected Outcomes
- Minimize growth and developmental delays
- Minimize self-care deficits
- Remain free of infection and injury
Patient/Caregiver Education
- Perform annual audiological and ophthalmological evaluations.
- Implement early intervention programs.
- Know diagnosis and treatment plan.
- Understand medications and potential side effects.
- Individuals with chronic respiratory and cardiac disease should have the influenza and pneumococcal vaccinations annually.
- Provide pharmacological agents, behavior therapies, and/or psychotherapy for psychiatric disorders.
- Prevent tooth decay and periodontal disease through good dietary habits, proper dental hygiene, fluoride treatments, and restorative care.
- Prompt treatment of otitis media and respiratory tract infections is necessary.
- Set realistic goals.
- Social interaction is encouraged.
- Individuals with cardiac disease need subacute bacterial endocarditis prophylaxis when having dental work or other invasive procedures.
- Have annual thyroid function and diabetes testing.
- Treat skin disorders with proper hygiene, frequent bathing, weight reduction, antibiotic ointment, or systemic antibiotic therapy.
- Upon discharge, contact:
- Early intervention services.
- National and local Down syndrome organizations
- Social services
- Follow up with provider or surgeon, as directed.
- Return if adverse reactions or complications occur.
- Maintain daily exercise if there is no underlying cardiac illness.
- Normal, well-balanced nutrition should be consumed, as tolerated.
- The only prevention for Down syndrome is to abort the fetus early in pregnancy if detected.
Additional Information
Content Release Date
4/1/2022
Content Expiration
12/31/2024
Course Contributor
The content for this course was created by Kelly LaMonica, DNP, RNC-OB, C-EFM. Kelly LaMonica received her Associate’s Degree and RN from Muhlenberg School of Nursing in New Jersey 20 years ago. She began her career in Labor and Delivery 16 years ago. She earned her BSN and MSN from the University of Phoenix and her DNP from Grand Canyon University. She is certified in Inpatient Obstetrics (C-OB) and Electronic Fetal Monitoring (EFM). She is a neonatal resuscitation (NRP) Instructor. She has been a clinical leader for the past 11 years at Penn Medicine Princeton. She is also a Clinical Instructor at Rutgers University and Chamberlain School of Nursing.
Resources
- Down Syndrome https://medlineplus.gov/genetics/condition/down-syndrome/
- What is Down Syndrome https://www.ndss.org/about-down-syndrome/down-syndrome/
References
- Akhtar, F., & Bokhari, S. R. A. (2021). Down syndrome. StatPearls [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK526016/
- Centers for Disease Control and Prevention (CDC). (2021). Facts about Down syndrome. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
- Mayo Clinic. (2018). Down syndrome. https://www.mayoclinic.org/diseases-conditions/down- syndrome/symptoms-causes/syc-20355977
- U.S. Department of Health and Human Services. (2021). Down syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/10247/down-syndrome