Down syndrome Flashcards
What is Down syndrome?
Down syndrome is caused by a full or partial extra copy of the 21st chromosome, leading to altered development, common characteristics, and potential morbidities.
What are the three forms of Down syndrome?
Translocation (4%), mosaic (1%), and nondisjunction (95%).
What is the prevalence of Down syndrome in the US?
Approximately 1 in 775 births, with an estimated 250,700 individuals living with Down syndrome in the United States.
Name three common physical features associated with Down syndrome.
Epicanthal folds, almond-shaped eyes, and a single palmar crease.
What percentage of individuals with Down syndrome have congenital heart defects (CHD)?
40-50%.
What are some prenatal screening tests for Down syndrome?
cfDNA testing or NIPT, maternal serum screenings, and ultrasound soft markers.
What are two diagnostic procedures used for Down syndrome?
Chorionic villus sampling (CVS) and amniocentesis (chromosomal analysis).
Name three neonatal complications common in Down syndrome.
Required oxygen (60%), feeding problems (48%), and RDS (20%).
What is the life expectancy for individuals with Down syndrome today?
Life expectancy has increased to the 60s, compared to 25 years in 1983.
Name one gastrointestinal congenital anomaly associated with Down syndrome.
Duodenal atresia or stenosis.
What is the role of an echocardiogram (ECHO) in Down syndrome?
Every newborn with Down syndrome needs an ECHO to check for congenital heart defects (CHD).
What are some associated morbidities with Down syndrome?
Obesity, Alzheimer’s, asthma, sleep apnea, hypothyroidism, and childhood leukemias.
What percentage of parents report a positive relationship between their children with and without Down syndrome?
0.95
What language is recommended when delivering a Down syndrome diagnosis?
Person-first language and terms like ‘can’ or ‘may’ instead of absolutes like ‘always.’
What are recommended steps for NICU discharge for infants with Down syndrome?
ECHO, CBC, TSH, OT/PT evaluation, feeding evaluation, and parent-to-parent support connections.
What are some common visual disorders in Down syndrome?
Congenital cataracts and other visual impairments.
What is a best practice for delivering a Down syndrome diagnosis?
It should ideally occur with both parents present in a private room and include a discussion of the infant first before the diagnosis.
What are two key goals of early intervention in Down syndrome?
Supporting developmental milestones and improving communication/behavior through therapies.
What organizations can provide resources for families of children with Down syndrome?
RMDSA, DSDN, and local Down syndrome associations.
What are two key components of improved neonatal care for Down syndrome?
Early diagnosis and multidisciplinary care planning.
Why is appropriate oxygenation important in Down syndrome?
It helps prevent and manage pulmonary hypertension (PH).
What are some developmental delays seen in children with Down syndrome?
Gross motor milestones can be extended to 2 years, along with mild to moderate cognitive delays.
What percentage of individuals with Down syndrome fail their newborn hearing screen?
0.22
How has the perception of Down syndrome improved over time?
Greater recognition of the potential for a good quality of life and community inclusion.
Name one family-to-family support network for Down syndrome.
DSDN Rockin’ Moms.
What percentage of children with Down syndrome require phototherapy?
0.43
What is the prevalence of congenital anomalies of the GI tract in Down syndrome?
10-12%.
What factors increase the risk of having a baby with Down syndrome?
Maternal age and potentially folic acid deficiency.
How should printed information about Down syndrome be chosen?
It should be accurate, up-to-date, and sourced from credible organizations.
What percentage of children with Down syndrome require NG feedings?
0.19
