Down Syndrome - For Providers

Talking With Families - Delivering a Diagnosis

As with any unexpected news, learning that a family member has, or is expecting, a child with Down syndrome can be a shock. Preconceived ideas of what life would be like will be challenged, and new expectations will likely take time to develop. Knowing that their son or daughter has many options and supports available to live a rich and fulfilling life is critical in the early days, weeks, months, and even years of their little one’s life.

What Do I Do First?

  1. Inform both parents together of your suspicion after mother has had sufficient time to recover from the delivery, but ideally within the first 24 hours. Discuss in a private setting, without interruption, and in the parents’ preferred language. Coordinate the message between the obstetric and pediatric staff, if possible. Have the infant present and referred to by name.
     
  2. Congratulate parents on the birth of their newborn; do NOT say “I’m sorry” or “I have bad news”. Give a balanced approach about what Down syndrome means for that child and for that family. Choose your words with sensitivity, using “People First” language that emphasizes the child, not the disability. Avoid terms such as “Down’s baby”, etc. Be aware of the realities and possibilities for healthy, productive lives for people with Down syndrome today. Limit discussions to those medical conditions the newborn is suspected of having or that may occur in the first year. Allow time for questions and make plans for follow up.
     
  3. Order chromosome karyotype as STAT or with FISH (fluorescent in situ hybridization) for 24-48 hour preliminary results. The preliminary results should be available prior to hospital discharge, with the final karyotype results available within 1-2 weeks. Coordinate with parents whether they wish to receive the final results by phone or in person.
     
  4. Request a Genetics consult with a Geneticist or Genetic Counselor. If genetics services are available in your setting, order a genetics consult while baby is still an inpatient. If not, request an outpatient genetics appointment within a week of the infant’s discharge. Most genetics clinics are more than happy to work in families with a new diagnosis.
     
  5. Offer and facilitate referral to your local Down syndrome association for parent to parent support. Many Down syndrome organizations have a First Call program that includes up-to-date information on Down syndrome, local resources, and parent contacts. See Resource List for the closest DS organization in your area.
     
  6. Heart defects are seen in ~50% of individuals with Down syndrome. Order an echocardiogram, to be read by a pediatric cardiologist, preferably prior to hospital discharge. Obtain a CBC to rule out transient myeloproliferative disorder. Check for duodenal atresia, cataracts, reflux, and feeding difficulty. Follow up on newborn screening results for hypothyroidism and hearing loss.
     
  7. Follow the Down Syndrome HealthCare Guidelines published by the American Academy of Pediatrics for ongoing healthcare from birth to adulthood.
     

Basic Guidelines for Using People First Language

• Put people first, not their disability
A “person with a disability”, not a “disabled person”
A “child with autism”, not an “autistic child”

• Use emotionally neutral expressions
A person “with” cerebral palsy, not “afflicted with” cerebral palsy
An individual who had a stroke, not a stroke “victim”
A person “has” Down syndrome, not “suffers from” Down syndrome

• Emphasize abilities, not limitations
A person “uses a wheelchair”, not “wheelchair-bound”
A child “receives special education services”, not “in special ed”

• Adopt family-preferred language
A “cognitive disability” or “intellectual disability” is preferred over “mentally retarded”
“Typically developing” or “typical” is preferred over “normal”
“Accessible” parking space or hotel room is preferred over “handicapped”

• Never use the “R-word” as a joke
“That’s so retarded!”, “He’s a retard"


References:

  • Bull, MJ, and the Committee on Genetics. (2011). Health supervision for children with Down syndrome, Pediatrics, 128(2), 393-406.
     
  • Sheets, KB, et al. (2011). Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the National Society of Genetic Counselors, Journal of Genetic Counseling, 20, 432-441.
     
  • Skotko, BG, et al. (2009). Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news, Pediatrics, 124(4), e751-e758.