speakers living with down syndrome: panelists
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11/6/2014
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LIVING WITH DOWN SYNDROME:
The Journey and Lessons Learned from Parents,
Health Professionals, and Personal Perspectives
Panelists
• Marissa Erickson
• Mary Erickson
• Lorna Ugale
• Ryan Wilson
• Jackson Steel
• Jane Steiner
• Joseph Vaughn
• Eleanor Vaughn
Speakers
Kimberly Barr, MS, LCGCGenetic CounselorKaiser San Francisco
Emily Chen, MD, PhD GeneticistKaiser San Francisco
Photo credits: 1) Global Down Syndrome Foundation 2) and 4 ) Marissa Erikson5)COMMUNITY FOR PERMANENT SUPPORTED HOUSING6)WORLD DOWN SYNDROME DAY website
Down Syndrome: The JourneyChanges in the past 30 years
DIAGNOSINGDOWN SYNDROME
HEALTHCARE IMPROVEMENTS
EDUCATIONALOPPORTUNITIES
SUPPORT RESOURCES
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DIAGNOSING DOWN SYNDROME
Overview of Down syndrome
• Well‐recognized condition– First described in medical literature
in 1866 by Dr. John Langdon Down
• Common– About 1 in every 700 newborns hasDown syndrome
– Affects people of all ethnicities
• Related to maternal age– Average maternal age ~ 31 years old
Genetics of Down Syndrome
• First recognized as a chromosome condition in1959 (Lejeune et al) 46, XY: TYPICAL MALE CHROMOSOMES
Types of Down syndrome
47,XY, +21 46,XY,der(14;21)(q10;q10),
+21
Trisomy 21 Translocation
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Inheritance of Down syndrome
• Trisomy 21 is usually sporadic (no family history)
– Chance for a second child with Down syndrome is typically <1%
• Translocation Down syndrome can sometimes run in the family
• When a parent has Down syndrome
– Recurrence risk for females ~ 30‐50%
– Recurrence risk for males is uncertain
Diagnosis made at birth based on physical features
Amniocentesis introduced for “high risk” women‐Most diagnoses still made
after delivery
First routine screening test (AFP)‐ Shift to more prenatal diagnoses
Down syndrome ultrasound markers
Refinements in blood tests and ultrasound ‐MOST diagnoses now made prenatally ‐ Not all families choose testing before birth
DNA‐based screening test introduced for high risk women>99% detection rate for Down syndrome
Making the Diagnosis
“Essential” information at diagnosis
• Genetic cause/recurrence risk
• Range of intellectual disability/developmental delays
• Medical concerns
• Support groups and resources
• Social and community opportunities
• Potential for independent living
• Life expectancy
• Similarity to other children
NSGC Practice Guidelines (2011) Sheets, et al
Genetic Counseling
• Present balanced information
– Include positive aspects and challenges
– Use clear, concise language
• Allow time for family’s emotional response
– Be supportive and respectful
• Provide informational resources
NSGC Practice Guidelines (2011) Sheets, et al
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For the Panel
• Parents (Mary/Jane/Eleanor): – How did you learn about the diagnosis of Down syndrome?
– What do you tell new parents of a child with Down syndrome
• Marissa/Jackson/Joseph: – How would you describe what Down Syndrome is?
– Marissa ‐What do you want to do when you finish school?
– Jackson ‐What are your goals for the future?
– Joseph – What are your hobbies? (What do you do for fun?)
HEALTHCARE IMPROVEMENTS
Medical guidelines
• Medical guidelines for Down syndrome were first published in 1981
– Most current: Health Supervision for Children With Down Syndrome
• American Academy of Pediatrics – M. Bull and Committee on Genetics, Pediatrics, 2011; 128 (2):393‐406, Evidence‐based guidelines
• Ensures the medical needs of people with DS are adequately met across the entire lifespan
Medical issues presentat birth
• Hypotonia (almost all)
• One or more physical birth defects
– Congenital heart defect (40‐50%)
– Intestinal blockage or atresia (~12%)
– Congenital cataracts (1%)
• Congenital hypothyroidism (15% before 1 yo)
Sheets et.al. , J Genet Counsel, 2011Bull et.al., Pediatrics, 2011Torfs and Christianson, AJMG, 1996
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For the Panel
• Parents (Jane/Eleanor/Mary):
– What medical issues did your child face at birth or in early childhood?
Selected Medical Conditions with a Higher Prevalence in Adults with Down Syndrome*
Endocrine• Thyroid disease—hypothyroidism and hyperthyroidism
• Diabetes mellitus
Mental health• Depression
• Obsessive‐compulsive disorder
• Abuse (physical or sexual)
• Conduct disorder
Otolaryngology• Obstructive sleep apnea
• Hearing loss
Musculoskeletal• Spinal cord compression
• Atlantoaxial subluxation
Periodontal disease Alzheimer’s diseaseVisual problems• Refractive errors
• Cataracts and keratoconus
Seizures Testicular cancer
Gastrointestinal problemsConstipation, Celiac disease
Acquired valvularheart disease Includes mitral valve prolapse
Hematological abnormalitiesIncludes leukemia
*—Listed in approximate order of clinical importance.Adapted from Smith, Am Fam Physician, 2001
Aging and medical issues
• Adults with DS are now reaching olderages on a regular basis (50’s‐70’s)– In the 1940s, the average life expectancy for individuals with DS was 12 years
– Oldest documented person with DS lived to 83 years old
• “Accelerated” aging• Alzheimer syndrome
– More frequent in DS than in the general population (gen pop ~10‐15% after age 65)
– Risk increases with age, but it does NOT affect all individuals with Down syndrome
• ~30% in the 50s; ~50% in the 60s
McCarron et al., JIDR, 2014
Complementary and alternative therapies for Down syndrome
• Includes a wide range of therapies– Nutritional supplements; dietary modifications
– Movement programs
• Limited/no scientific evidence of benefit
• Families often try alternative therapies to address specific issues – Immune deficiency
– Metabolic imbalances
– Enhance development
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Future treatments?
• NIH clinical trials in progress
– http://clinicaltrials.gov (Search: Down syndrome)
– Human clinical trials pending on Prozac, lithium, and other medications
• Animal studies suggest there may be medications that could improve neurogenesis
– Could treatment be started before birth?
For the Panel
• Parents (Mary/Jane/Eleanor):
– Are there any current health concerns?
– Where do you go for new information about treatment for Down syndrome?
– What alternative therapies have you heard about or tried?
• All:
– Any other thoughts about medical issues or mental health issues related to DS?
EDUCATIONAL OPPORTUNITIES
Intellectual disability
• Variable range of intellectual disability usually from mild to moderate
– Documented range: normal to profound ID
– Delays in reaching developmental milestones
– Social IQ often exceeds overall IQ
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Special Education Programs (1975)
MainstreamPrograms (1980s)
Full Inclusion
(1990s)
Changes in Educational Programs
• Benefits of learning within a typically developing peer group:
• Exposure to typical spoken language of the peer group improves communication skills
• Inclusion in all academic lessons allows faster pace of learning than mainstream programs
Buckley et al, Down Syndrome Research and Practice. 2006Marissa Erikson in Kindergarten
Early Intervention Programs
• Birth to age 3
• Children at risk for developmental delays benefit from early intervention starting in infancy (e.g., PT, OT, speech)
• Signed into law in 1986
• California Regional Centers
– 21 sites
For the Panel
• Parents (Eleanor/Jane/Mary): – What school programs were available to your child?
• Jackson/Joseph/Marissa:– What was your experience like in school? – Share a special experience from school.
• Parents (Jane/Eleanor/Mary): – Were there any school challenges your child faced?
• Lorna/Ryan: – What is your involvement with students? – What resources are available today to help students with Down syndrome?
SUPPORT RESOURCES
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Support needs over lifespan
Infancy/Pre-school School-age Adult
Early intervention programs
Family coping
Educational needs
Building social network (friends, activities, organized groups)
Family support
Transition from school setting to adult activities
Independent living
Employment
Senior care
National support groups
• National Association for Down Syndrome
– Founded in 1961
• National Down Syndrome Congress
– Founded in 1973
• National Down Syndrome Society
– Founded in 1979
Local support organizations
• Down Syndrome Connection of the Bay Area
– www.dsconnection.org
• Down Syndrome Association North Bay
– https://dsanb.org
• Silicon Valley Down Syndrome Network
– www.svdsn.org
• Down Syndrome Interest Group (DSIG)
• California Regional Centers
Community Awareness
• Down Syndrome Awareness Month
– Nationally recognized in the month of October
• World Down Syndrome Day ‐March 21st (3‐21)
– Officially observed by the United Nations since 2012
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National Registry
• DS‐Connect
• October 2013
For the Panel
• Parents (Eleanor/Mary/Jane): – What type of support did you get along this journey? – Is there one support resource that stands out? – How are you involved with the CA Regional Center? – How much support do you give your child now?
(financial, medical, social, emotional, other)– What challenges have you faced as your child transitioned to an adult?
• Joseph/Jackson/Marissa: – Joseph: What kinds of things do you do with the Down Syndrome
Connection group?– Jackson: How have you been involved with the Regional Center? – ALL:Who do you live with currently? – Marissa/Jackson: Do you have plans to move to your own place?
• Ryan/Lorna/Parents:– Do you see any areas where support resources are lacking?
Down syndrome: Lessons learned
Down syndrome is a genetic condition, not an illness
People with Down syndrome are more like other people than they are different
There are specific known health issues which may affect people with Down syndrome, for which accurate, evidence based information is available
For the Panel
• Parents (Mary/Jane/Eleanor): – What lessons did you learn along the way that you wish you had learned earlier?
• Marissa/Jackson/Joseph:– What would you like to tell this group about yourself that we haven’t asked?
• ALL: – What do you wish people knew about Down syndrome?
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Questions?
Jackson
Marissa and Jackson
Jane
Jackson
Marissa
Joseph
Joseph
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