Transcript In the past 12 months, I have had no relevant financial relationships

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
Faculty Disclosure Information
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.
Goals
• Understand principles of care for
children with disabilities
• Know where to get needed resources
for children with disabilities
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.20111605.DC1/peds20111605-Spanish.pdf
Medical Home
• Community-based interdisciplinary, teambased approach to care
– Accessible
– Family-Centered
– Coordinated
– Compassionate
– Continuous
– Culturally Effective
Medical Home
• Integrated Health System
– Patients and Families
– Health Care Providers
– Specialists and Subspecialists
– Hospitals and Health Care Facilities
– Public Health
– Community
The Need: Family-Centered Community-based
System of Services for Children and Youth
Perrin, J. M. et al. Arch Pediatr
Adolesc Med 2007;161:933-936
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
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”
Delivering the News
• Offer access to families with
child with Down syndrome
• Give current literature
and resources
http://woodbinehouse.com/spanish.Spanish.0.htm
Parent Resources
• Español - National Down Syndrome Congress
www.ndsccenter.org/espanol/
• National Down Syndrome Society 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
• Woodbine House Spanish
http://woodbinehouse.com/spanish.Spanish.0.htm
Medical Problems Common in
Down Syndrome
• Hearing problems
• Vision problems
• Cataracts
• Refractive errors
• Obstructive sleep apnea
• Otitis media
• Congenital heart disease
• Hypodontia and delayed dental eruption
• Gastrointestinal atresias
• Thyroid disease
75%
60%
15%
50%
50–75%
50–70%
40–50%
23%
12%
4–18%
AAP 2011
Medical Problems Common in
Down Syndrome
• Seizures
• Hematologic problems
• Anemia
• Iron deficiency
• Transient myeloproliferative disorder
• Leukemia
• Celiac disease
• Atlantoaxial instability
• Autism
• Hirschsprung disease
1–13%
3%
10%
10%
1%
5%
1–2%
1%
<1%
AAP 2011
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
Thyroid Dysfunction in
Down Syndrome
• Incidence (3 – 50%)
– Hypothyroidism
• Congenital and Acquired
– Hyperthyroidism
– Euthyroid Thyroiditis
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
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
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
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
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
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
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
Refer for
Early Intervention
and
Therapy
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
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
A true medical home is the
kind of quality health care that
we all want, need and deserve
for ourselves and our families.