3/3/2017 Disclosure Conversations About Down Syndrome • I have nothing to disclose. • My husband, Chris Small, works at Genentech/Roche. He is not involved in marketing their drugs; he edits the submission Delivering and discussing a Down syndrome materials that go to the FDA. ☺ diagnosis Presented by Our Goals Down Syndrome 101 • To help healthcare professionals • Most common genetic condition, occurring in 1:691 births in understand supportive, the United States informative ways to discuss • Estimated 6,000 births in the U.S. per Down syndrome with families year 1 • To inform healthcare • More than 200,000 Americans have professionals about local and Down syndrome 2 national resources available to • Present in all races and support and enhance the lives of socioeconomic classes and is people with Down syndrome equally common in both genders • To highlight specific medical and • No known cause for Down developmental needs of people syndrome—it is due to extra genetic with Down syndrome material in the egg or sperm and is present from the moment of conception 1
3/3/2017 Types of Down Syndrome Physical Characteristics • Trisomy 21 Each person with Down syndrome will have unique physical • Most common type, accounting for 95% of all cases of Down characteristics, but common ones seen in people with Down syndrome syndrome include: • An additional copy of chromosome 21 is replicated in every cell of • Hypotonia (low muscle tone) the body • Epicanthal folds on inner corners of eyes (with an almond shape) • Translocation • Flat nasal bridge • Accounts for 4% of Down syndrome cases • Small or unusually shaped ears • Part of chromosome 21 breaks off during cell division and • Excess skin at the back of the neck attaches to another chromosome (often chromosome 14) • Tongue that protrudes or seems large compared to size of mouth • Mosaicism • White spots on colored part of the eye (called “Brushfield spots”) • Accounts for 1% of Down syndrome cases • Single, deep crease across the palm of the hand • Additional copy of chromosome 21 is replicated in only some cells, so the signs of DS may present differently than in cases of • Extra space between first and second toes (called “sandal gap”) Trisomy 21 or translocation. Medical Concerns in Babies and Medical Concerns in Older Young Children Children and Adults • Atlantoaxial instability Some babies with Down syndrome are born with no other medical concerns. However, certain medical conditions can be • Vision problems somewhat common in children with Down syndrome: • Autism • Congenital heart problems (50%) • Precocious puberty • Hearing problems • Early-onset menopause • Obstructive sleep apnea • Celiac disease • Gastrointestinal atresia or Hirschprung’s disease • Dementia and Alzheimer’s disease • Thyroid dysfunction (especially hypothyroidism) • Leukemia • Nursing and feeding difficulties 2
3/3/2017 Diagnosis Prenatal Diagnosis • Diagnosis can happen prenatally, at birth, or occasionally Although many parents don’t receive a suspected diagnosis until several months later their baby is born, women are increasingly choosing to do noninvasive prenatal screening tests such as Harmony and • Birth diagnoses may be suspected but cannot be confirmed until MaterniT21, which can indicate the possibility of a chromosomal the results of a karyotype test come back. abnormality, such as Down syndrome. • If a family asks what type of Down syndrome their child has before the karyotype has confirmed, it is best to prepare • These tests are screens , not definitive tests. Results are not them for Trisomy 21, as that is by far the most common type. 100% accurate. There may still be delivery-room surprises. • Every parent will react to the news differently, but most follow • A majority of women receiving a “positive” indication on these the general cycle of: screens choose to end their pregnancies. However, even if Grief > Denial > Bargaining > Anger > Acceptance they continue the pregnancy and come to terms with the • Regardless of how/when a baby is diagnosed, the birth should diagnosis while pregnant, the delivery room is still a very be a positive event, and the baby’s arrival should be emotional, raw place for them. celebrated. What Can You Do? What Can You Do? • Treat the baby’s arrival as the • Use “people first” language. It is celebration that it is. A baby a baby with Down syndrome, was brought into the world! not a “Down’s baby” or “Down syndrome baby.” • Congratulate, don’t • Tell both parents together. apologize. Most parents report that it hurt to have • Remember that mothers people not congratulate and fathers can respond them on the birth of their differently to the news. baby. • Use the baby’s name. 3
3/3/2017 What Can You Do? What Can You Do? • Answer questions honestly and knowledgeably. If you don’t • Provide referrals to Down know an answer, tell the parents you will find out—and then Syndrome Connection of the contact us, and we’ll help you. Bay Area and to the Regional • Allow parents time to bond with their child, but check in Center for early intervention. regularly to see whether parents need anything. • Social Services should have • Recognize that certain statements may seem judgmental to contact information for both. parents, such as, “Did you have prenatal testing?” • DSCBA will deliver a welcome • Be aware of the medical issues that can come with Down basket with gifts and further syndrome and answer parents’ questions honestly, but also information for parents. emphasize that many children with Down syndrome • DSCBA can provide a parent- experience none of these conditions and that most to-parent match. conditions are very treatable. • Trust parent intuition. Check further into any concerns before assuming that something is “just part of Down syndrome.” What Is Early Intervention? Quality of Life • Children with Down syndrome are Worries about a person with Down syndrome’s quality of life entitled to receive early are unfounded, as are concerns that the person will be a intervention services through the Regional Center. “burden” to his or her family. According to large studies of • Services include infant people with Down syndrome and their families: 3 development, occupational • 99% of people with DS indicated they are happy with their therapy, physical therapy, and speech therapy. lives, and 97% like who they are. • Down Syndrome Connection works • 86% indicated that they make friends easily, and those who in conjunction with the Regional Center, providing support and struggled tended to have isolated living situations. enrichment where early intervention leaves off. • California Department of Developmental Services provides a full list of area Regional Centers on their website. 4
3/3/2017 Expectations Common Myths • Average lifespan for a person with Down syndrome is about 60–65 • Only women older than age 35 are likely to have a baby with years. Down syndrome. • Every person with Down syndrome has unique cognitive, social, and • False! 80% of babies with Down syndrome are born to women physical abilities, as well as unique behavior and accomplishments. under the age of 35. 4 • More and more children with Down syndrome are becoming fully • A child with Down syndrome will have a negative effect on his included in school, enhancing their success. or her parents. • Adults with Down syndrome can: • False! 99% of parents report loving their child with DS. And • Have relationships and marry the divorce rate in families who have a child with DS is • Attend post-secondary schools actually lower than in families with a nondisabled child. 5 • Live semi-independently or independently • A child with Down syndrome will have a negative effect on his • Work at rewarding jobs or her siblings. • Actively participate in their community • False! 97% of siblings of people with DS reported being proud of • Each person with Down syndrome is unique, and there’s no way to their sibling with DS. And 88% of siblings of people with DS know what the future holds. reported that they think they are better people for having a sibling with DS. 6 Common Myths What DSCBA Does • People with Down syndrome are • One-on-one parent mentors for new families always happy. • Support groups for parents, grandparents, and other family • False! People with Down members syndrome experience the same • Developmental-based classes for infants through adults range of emotions as anyone • School-readiness summer program else. Anecdotally, though, • Communication technology services people with Down syndrome do tend to often have a largely • On-site reading teacher positive outlook on life. • Music therapy for infants and children • “God only gives special children • On-site feeding/oral-placement therapist to special people.” • Special events throughout the year, such as seminars, • Many parents—even those with training sessions, camps, etc. a strong faith—feel offended by • Medical Outreach Alliance (partnering with 37 area this statement. In their minds, hospitals) they are normal, everyday • Education Alliance (partnering with 32 Bay Area school parents who just happened to districts) have an exceptional child. 5
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