Pediatric Genetic Counseling

Question 1

Why are patients often referred to pediatric genetic counselors?

Answer 1

birth defect(s) or multiple congenital anomalies (cleft lip/palate, heart defects, spina bifida)
ID of unknown cause, learning disabilities, autism
sensory impairments (vision, hearing)
metabolic disorders (PKU, galactosemia)
known/suspected genetic disorders (Down syndrome, Cystic Fibrosis, Muscular Dystrophy)

Question 2

What is spina bifida?

Answer 2

neural tube defect found at birth/soon after birth that occurs when the spine and spinal chord don’t properly form
can be caused by folic acid deficiency during pregnancy

Question 3

Name the types of spina bifida.

Answer 3

spina bifida occulta (most common)
myelomeningocele
meningocele (very rare)

Question 4

What is spina bifida occulta?

Answer 4

mildest and most common
small separation or gap in 1+ vertebrae
most don’t even know unless it is discovered during imaging as an incidental finding

Question 5

What is myelomeningocele?

Answer 5

“open spina bifida”
most severe
spinal canal is open along several vertebrae in the lower/middle back allowing membranes and spinal nerves to push through the opening at birth forming a sac on the baby’s back, typically exposing nerve and tissue
babies prone to life threatening infections, paralysis, and bladder and bowel dysfunction

Question 6

What are the two parts of pediatric counseling?

Answer 6

diagnosis (including prep, appointment, test results, and follow-up)
management (recommendations, risk of family members, relative inheritance patterns, and reproductive options)

Question 7

List the parts of the chart note.

Answer 7

CHAMPS (Chief Complaint, HPI, Allergies, Medications, Past Medical History, and Social and Family History)

Question 8

What psychosocial issues are experienced by the patient?

Answer 8

shame
stigma
including the patient in discussions
adjustment to a different future
changes in self-perception
rareness
transitioning 
"overparenting"

Question 9

What psychosocial issues are experienced by the parents?

Answer 9

divorce
parents may disagree
guilt
discussions of 'how and when do I tell my child'
adjustment to a different future
rareness
financial burden
time burden

Question 10

List other psychosocial issues to consider in pediatric counseling appointments.

Answer 10

limited information (e.g. one report of two affected individuals)
uncertainty
effects on unaffected siblings
other family members and their involvement
addressing cultural/familial beliefs/understanding
diagnostic odyssey versus rapid diagnosis
importance of support groups
request for research