Down syndrome

Question 1

What is Down syndrome?

Answer 1

Down syndrome is caused by a full or partial extra copy of the 21st chromosome, leading to altered development, common characteristics, and potential morbidities.

Question 2

What are the three forms of Down syndrome?

Answer 2

Translocation (4%), mosaic (1%), and nondisjunction (95%).

Question 3

What is the prevalence of Down syndrome in the US?

Answer 3

Approximately 1 in 775 births, with an estimated 250,700 individuals living with Down syndrome in the United States.

Question 4

Name three common physical features associated with Down syndrome.

Answer 4

Epicanthal folds, almond-shaped eyes, and a single palmar crease.

Question 5

What percentage of individuals with Down syndrome have congenital heart defects (CHD)?

Answer 5

40-50%.

Question 6

What are some prenatal screening tests for Down syndrome?

Answer 6

cfDNA testing or NIPT, maternal serum screenings, and ultrasound soft markers.

Question 7

What are two diagnostic procedures used for Down syndrome?

Answer 7

Chorionic villus sampling (CVS) and amniocentesis (chromosomal analysis).

Question 8

Name three neonatal complications common in Down syndrome.

Answer 8

Required oxygen (60%), feeding problems (48%), and RDS (20%).

Question 9

What is the life expectancy for individuals with Down syndrome today?

Answer 9

Life expectancy has increased to the 60s, compared to 25 years in 1983.

Question 10

Name one gastrointestinal congenital anomaly associated with Down syndrome.

Answer 10

Duodenal atresia or stenosis.

Question 11

What is the role of an echocardiogram (ECHO) in Down syndrome?

Answer 11

Every newborn with Down syndrome needs an ECHO to check for congenital heart defects (CHD).

Question 12

What are some associated morbidities with Down syndrome?

Answer 12

Obesity, Alzheimer’s, asthma, sleep apnea, hypothyroidism, and childhood leukemias.

Question 13

What percentage of parents report a positive relationship between their children with and without Down syndrome?

Answer 13

95%.

Question 14

What language is recommended when delivering a Down syndrome diagnosis?

Answer 14

Person-first language and terms like ‘can’ or ‘may’ instead of absolutes like ‘always.’

Question 15

What are recommended steps for NICU discharge for infants with Down syndrome?

Answer 15

ECHO, CBC, TSH, OT/PT evaluation, feeding evaluation, and parent-to-parent support connections.

Question 16

What are some common visual disorders in Down syndrome?

Answer 16

Congenital cataracts and other visual impairments.

Question 17

What is a best practice for delivering a Down syndrome diagnosis?

Answer 17

It should ideally occur with both parents present in a private room and include a discussion of the infant first before the diagnosis.

Question 18

What are two key goals of early intervention in Down syndrome?

Answer 18

Supporting developmental milestones and improving communication/behavior through therapies.

Question 19

What organizations can provide resources for families of children with Down syndrome?

Answer 19

RMDSA, DSDN, and local Down syndrome associations.

Question 20

What are two key components of improved neonatal care for Down syndrome?

Answer 20

Early diagnosis and multidisciplinary care planning.

Question 21

Why is appropriate oxygenation important in Down syndrome?

Answer 21

It helps prevent and manage pulmonary hypertension (PH).

Question 22

What are some developmental delays seen in children with Down syndrome?

Answer 22

Gross motor milestones can be extended to 2 years, along with mild to moderate cognitive delays.

Question 23

What percentage of individuals with Down syndrome fail their newborn hearing screen?

Answer 23

22%.

Question 24

How has the perception of Down syndrome improved over time?

Answer 24

Greater recognition of the potential for a good quality of life and community inclusion.

Question 25

Name one family-to-family support network for Down syndrome.

Answer 25

DSDN Rockin’ Moms.

Question 26

What percentage of children with Down syndrome require phototherapy?

Answer 26

43%.

Question 27

What is the prevalence of congenital anomalies of the GI tract in Down syndrome?

Answer 27

10-12%.

Question 28

What factors increase the risk of having a baby with Down syndrome?

Answer 28

Maternal age and potentially folic acid deficiency.

Question 29

How should printed information about Down syndrome be chosen?

Answer 29

It should be accurate, up-to-date, and sourced from credible organizations.

Question 30

What percentage of children with Down syndrome require NG feedings?

Answer 30

19%.