Trisomy 21 - Lehman by https://padlet.com/clehman1/16w90k5houdd Chronic Condition Presentation en-us 2016-09-15 21:42:46 UTC 2025-11-02 15:06:23 UTC hello@padlet.com Introduction clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124218371 Down Syndrome (DS) is a genetic disorder in which a baby's genetic makeup has three #21 chromosomes (trisomy 21) instead of the usual two (Schott & Holfelder, 2015). This genetic disorder involves birth defects, intellectual disabilities and characteristic facial features. Down Syndrome is one of the most common genetic birth defects and affects approximately 1 in 800 babies (Stanford Children's Health, 2016). DS can be diagnosed before birth by analyzing cells in the amniotic fluid or after birth, with a blood test, once suspicion of DS is noted. ]]> 2016-09-15 21:45:56 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124218371 Physical Assessment Findings clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124218391 GENERAL: Short stature. Hypotonia. Excessive flexibility.
HEAD: Small head with flattened occiput.
EYES: Eyes may slant upward, unusual for ethnic background. Hypertelorism may be present (wide set eyes).
EARS: Small ears that may fold over slightly at the top.
NOSE: May be small with a flattened nasal bridge.
MOUTH: May be small, with protruding tongue. 
NECK: May have a short neck with excess skin.
HANDS: Small hands with short fingers. One single crease, that goes straight across the palm of the hand, instead of three creases in the palm. A second crease may curve down by the thumb.
**May have some or all of these features**
(Sawyer, 2012)]]> 2016-09-15 21:46:06 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124218391 Developmental Issues and Screenings clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124218429 Almost all individuals with DS have cognitive impairment but the degree varies widely (Ostermaier, 2015). It ranges from mild to moderate to severe, with mild to moderate being the majority. The amount or degree of physical features do not predict the cognitive development of a child with DS. Developmental delays typically become evident within the first year of life. The average age of sitting up in a child with DS is 11 months, creeping is 17 months, and walking is 26 months; generally twice the typical age. The average age of the first word is 18 months. The child with DS continues to learn new skills, yet IQ declines through the first 10 years, which then plateaus in adolescence and continues through adulthood. The exact age that these developmental milestones will be achieved cannot be predicted (Stanford Children's Health, 2016). ]]> 2016-09-15 21:46:23 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124218429 Anticipatory Guidance clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124218469 There are early intervention programs that focus on sensory, motor and cognitive activities that can help children achieve their highest potential. These programs usually involve therapists and special educators to help a baby develop motor skills, language, social skill and self-help skills (Laws & Hall, 2013). The National Down Syndrome Society (NDSS, 2012) has over 375 local affiliates that offer services to benefit the Down Syndrome community across the country.]]> 2016-09-15 21:46:42 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124218469 Special Considerations clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124218492 Down Syndrome often involves heart defects, visual and hearing impairments, and other health problems. About half of those with DS have heart defects (Stanford Children's Health, 2016). Some babies with DS are born with intestinal malformations that require surgery. Children DS are at risk for visual impairment and hearing loss. Common visual problems include crossed eyes, near- or farsightedness, and cataracts. Hearing loss may be due to fluid in the middle ear and/or a nerve defect (Laws & Hall, 2014). Children with DS are also at an increased risk for thyroid problems and leukemia.  They also tend to have many colds, as well as bronchitis and pneumonia. Those with DS are also at increased risk of sleep apnea and obesity (Schott & Holfelder, 2015).]]> 2016-09-15 21:46:53 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124218492 Testing/Referrals clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124218530 A team approach with referrals to a Cardiologist, Ophthalmologist, Gastroenterologist, Endocrinologist, Neurologist, ENT specialist, Audiologist, Physical Therapist, Speech Pathologist, and/or Occupational Therapist may be needed.

Diagnostic tests to be performed are an ECG within the 1st month of life to r/o cardiac disease and an auditory brainstem response test done within the first 3 months of life to r/o hearing loss (Chung, 2015). Echocardiogram and chest xray may also be done in the 1st month of life to r/o cardiac disease. 

In the newborn period, labs including CBC, thyroid function tests should be completed. Thyroid tests should also be completed at 6 months and 12 months, then yearly in children with DS. ]]> 2016-09-15 21:47:14 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124218530 Class Questions clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124218545 1. What characteristic features should you be attuned to while performing the newborn assessment in a baby who may have trisomy 21?
2. What diagnostic tests or laboratory data may be collected in the first month of a baby’s life when trisomy 21 is suspected or pronounced?
3. Name three special considerations when caring for a child with Down Syndrome.

]]> 2016-09-15 21:47:23 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124218545 References clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124218585 Chung, E. (2015). The 5-minute pediatric consult standard.  (7th ed.). Philadelphia: Wolters Kluwer.

Laws, G. & Hall, A. (2014). Early hearing loss and learning abilities in children with down syndrome. International Journal of Language and Communication Disorders, 49(3), 333-342. doi: http://dx.doi.org.ju.idm.oclc.org/10.1111/1460-6984.12077

National Down Syndrome Society (2012). What is down syndrome. Retrieved from http://www.ndss.org/Down-Syndrome/ 

Ostermaier, K. K. (2015). Down syndrome: Clinical features and diagnosis. UpToDate. Retrieved from http://www.uptodate.com.ju.idm.oclc.org/contents/down-syndrome-clinical-features-and-diagnosis?source=search_result&search=trisomy+21&selectedTitle=1%7E150

Sawyer, S. (2012). Pediatric Physical Examination & Health Assessment (1st ed.). Sudbury: Jones & Barlett Learning

Schott, N. & Holfelder, B. (2015). Relationship between motor skill competency and executive function in children with down’s syndrome. Journal of Intellectual Disability Research, 59(9), 860-872. doi: http://dx.doi.org.ju.idm.oclc.org/10.1111/jir.12189 

Stanford Children’s Health (2016). Down syndrome (trisomy 21).Retrieved from http://www.stanfordchildrens.org/en/topic/default?id=down-syndrome-trisomy-21-90-P02356

]]> 2016-09-15 21:47:48 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124218585 Immunizations clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124228541 Children with Down syndrome should receive regular medical care, including childhood immunizations. ]]> 2016-09-15 23:44:48 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124228541 https://www.youtube.com/watch?v=ILgLmChlxNg clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124238197 2016-09-16 01:41:32 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124238197 clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124238261 2016-09-16 01:42:27 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124238261 Safety Issues clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124239499 Due to some behavioral concerns in children with DS, safety is important. Children with DS may be at increased risk of wandering off. Parents should be vigilant to make sure all doors are locked and home alarms installed. ]]> 2016-09-16 01:58:16 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124239499 clehman1 https://padlet.com/clehman1/16w90k5houdd/wish/124241813 2016-09-16 02:29:39 UTC https://padlet.com/clehman1/16w90k5houdd/wish/124241813