1. Challenges for the Pediatrician Caring for Children with Down Syndrome and Other Disabilities Congreso Colombiano de Pediatria Cartagena, Colombia – South America June 13, 2013 Marilyn J. Bull, MD, FAAP Morris Green Professor of Pediatrics Riley Hospital for Children at Indiana University Health Indiana University School of Medicine Section of Developmental Pediatrics Indianapolis, IN

2. In the past 12 months, I have had no relevant financial relationships with the manufacturer of any commercial product or any provider of commercial services discussed in this CME activity. I do not intend to discuss an unapproved/investigative use of a commercial product/device in my presentation. Faculty Disclosure Information

3. Goals Understand principles of care for children with disabilities Know where to get needed resources for children with disabilities

4. Health Supervision for Children with Down Syndrome English http://pediatrics.aappublications.org/c ontent/128/2/393.full Spanish http://pediatrics.aappublications.org/c ontent/suppl/2012/08/03/peds.2011- 1605.DC1/peds20111605-Spanish.pdf

5. Medical Home Community-based interdisciplinary, team- based approach to care –Accessible –Family-Centered –Coordinated –Compassionate –Continuous –Culturally Effective

6. Medical Home Integrated Health System –Patients and Families –Health Care Providers –Specialists and Subspecialists –Hospitals and Health Care Facilities –Public Health –Community

7. Perrin, J. M. et al. Arch Pediatr Adolesc Med 2007;161:933-936 The Need: Family-Centered Community-based System of Services for Children and Youth

9. Down Syndrome 1/847 live births 5,400 born each year 250,000 affected in USA Shin, M et al. Pediatrics 2009;124,6:1565-1571

10. Delivering the News First congratulate parents on delivery Use baby’s name Provide balanced approach Be aware of “realities and possibilities for healthy, productive lives of individuals with Down syndrome in society ”

11. Delivering the News Offer access to families with child with Down syndrome Give current literature and resources http://woodbinehouse.com/spanish.Spanish.0.htm

12. Parent Resources Español - National Down Syndrome Congress www.ndsccenter.org/espanol/ National Down Syndrome Society en Espanol www.ndss.org/Resources/NDSS-en-Espanol/ www.ndss.org/Resources/NDSS-en-Espanol/ Healthychildren.org www.healthychildren.org Healthychildren.org- Español www.healthychildren.org/espanol Down Syndrome International Education www.dsinternational.org www.dsinternational.org Woodbine House Spanish http://woodbinehouse.com/spanish.Spanish.0.htm

13. Hearing problems75% Vision problems60% Cataracts15% Refractive errors50% Obstructive sleep apnea50–75% Otitis media50–70% Congenital heart disease40–50% Hypodontia and delayed dental eruption23% Gastrointestinal atresias12% Thyroid disease4–18% Medical Problems Common in Down Syndrome AAP 2011

14. Medical Problems Common in Down Syndrome Seizures1–13% Hematologic problems Anemia3% Iron deficiency10% Transient myeloproliferative disorder10% Leukemia1% Celiac disease5% Atlantoaxial instability1–2% Autism1% Hirschsprung disease<1% AAP 2011

15. Congenital Heart Disease Echocardiogram essential as newborn (even if fetal echo normal) 50% incidence cardiac defects Murmurs often not detectable Increased risk of pulmonary hypertension –Early repair of heart defects –May occur in absence of heart defects

16. Thyroid Dysfunction in Down Syndrome Incidence (3 – 50%) –Hypothyroidism Congenital and Acquired –Hyperthyroidism –Euthyroid Thyroiditis

17. Hypothyroidism in Down Syndrome Clinical symptoms subtle in Down syndrome –Dry skin –Constipation –Decreased growth velocity Early detection and prompt treatment essential for optimal central nervous system (CNS) function

18. Hypothyroidism in Down Syndrome Newborn –Obtain thyroid stimulating hormone test at birth Continue to screen at 6 and 12 months, then annually with thyroid stimulating hormone test Test anytime symptoms of concern for thyroid dysfunction

19. Down Syndrome Hearing Recommendations High risk serous otitis media (60-70%) Stenotic external canals challenging Testing recommendations –Newborn hearing screen –Rescreen hearing age 6 months –Behavioral audiogram and tympanometry at 1 year and every 6 months until pure tone audiometry possible –Annual behavioral audiogram after ear specific testing possible –Additional screening - otoacustic emissions or brainstem auditory evoked response (BAER) with sedation if necessary AAP 2011

20. Hematologic Concerns in Down Syndrome Newborn: obtain complete blood count (CBC) Transient Myeloproliferative Disorder (TMD) 10% Polycythemia 18-64% Manage TMD or polycythemia with subspecialty guidance Counsel parents of infants with TMD regarding increased risk for leukemia and symptoms of concern AAP 2011

21. Leukemia in Down Syndrome Often a great concern to parents Risk increased in transient myeloproliferative disorder (10 – 30%) Reassure parents that overall leukemia risk is low –1% Provide guidelines for signs and symptoms

22. Nutrition in Down Syndrome Poor weight gain in children with feeding problems or heart disease Excessive weight gain may occur in late infancy and adolescence Diets tend to be low in calcium and iron Goal: establish healthy patterns for activity and diet

23. Feeding Challenges Most infants successfully nurse and many breastfeed successfully Some may need supplementation in early infancy Young infant may need to be awakened to ensure recommended 7 – 10 feeds per day Require close monitoring for weight and hydration AAP 2011

24. Refer for Early Intervention and Therapy

25. Individuals with Disabilities Education Improvement Act (IDEIA) Mandates access to services for children with special needs Early intervention services birth – 2 Special education services 3 - 21 Services documented in plans 6/6/2012

26. Individual Education Plan Multidisciplinary evaluation by team Educate every child in least restrictive environment May include speech audiology psychological services Parents involved in developing education plan

29. A true medical home is the kind of quality health care that we all want, need and deserve for ourselves and our families.