
Target audience: Child Health staff physicians; all pediatric subspecialists; all
courtesy faculty and referring physicians; pediatric residents, medical students and
other professional staff at Children’s Hospital.



Objective: To improve the knowledge of physicians and therefore, their care for
children in rural Missouri, especially those hospitalized or seen at Children’s
Hospital. To offer presentations which are clinically applicable but basic science
that applies to the most contemporary treatments or illnesses.
Speaker Disclosure: Smruthi Sanatha, MD has no relationship with any commercial
firm having products related to topics discussed at this conference. Additionally, as
the chairman of this series, Dr. Thomas Loew has no conflict of interest to disclose
that would lead to bias in the selection of topics and/or speakers of this
series. Actual disclosure forms are available upon request.
The Office of Continuing Education, School of Medicine, University of Missouri is
accredited by the Accreditation Council for Continuing Medical Education (ACCME)
to provide continuing medical education for physicians.

The Office of Continuing Education, School of Medicine, University of Missouri
designates this live educational activity for a maximum of _1_ AMA PRA Category 1
Credit(s)™. Physicians should only claim credit commensurate with the extent of
their participation in the activity.
Smruthi Sanath, M.D.
Pediatric Resident (PGY-3)
University of Missouri at
Columbia
 What
is Down syndrome?
 Characteristics of DS
 Medical conditions associated with DS
 Updated health supervision guidelines from
AAP
 Recognition of co-morbidities that may be
present in DS
 Down
syndrome was originally described in
1866 by John Langdon Down.
 Down used the term mongoloid
 It wasn't until 1959 that a French doctor,
named Jerome Lejeune, discovered it was
caused by the inheritance of an extra
chromosome 21.
Type
Incidence
Chromosome
findings
Physical
features and
intellectual
disability
Trisomy 21
95%
Extra Ch. 21 in
every cell
Common form
Translocation
4%
Extra part of
Ch. 21
attached to
another Ch. in
every cell
Same as
Trisomy 21
Mosaicism
1%
Mixture of cells
– some with
extra Ch. 21
and others
normal
Milder physical
features and
intellectual
disability
In U.S.
 1 in 691 Live births.
 Odds of child with DS at age 35 are 1 in 350.
 Under age 25, the odds are about 1 in 1200.
 At age 40, the odds are about 1 in 100.
 But 80% of births to women <35yrs.
Life Expectancy increasing…
 Average 58.6yrs
 25% live to >62yrs
 Joyce Greenman of London, turned 87 on March 14, 2012,
 Advanced
maternal age
 Having one child with DS previously
 Carrying the genetic translocation for DS

First trimester


Second trimester


Quadruple screen: maternal age, B-hcg, unconjugated
estriol, AFP, Inhibin (sens 80%)
Integrated screen


Early screening: maternal age, Nuchal fold, B-hcg,
PAPP-A (sensitivity 82-87%)
Combination of both (sens 95%)
Diagnostic

CVS, Amniocentesis
 Maternal
T21
 1 and 2 trimester (high risk patients)
 20 ml maternal blood sample
 Extracts circulating cell-free fetal (“ccff”)
DNA
 Converts into a genomic DNA library
 Uses massively parallel genomic sequencing
 Detects T21 sensitivity 99.1%, specificity
99.9%
 Also detects T18,T13
 Talking
to parents in person about concerns
 Social Support
 Resources -CDC website (birth defects).
 National center of medical home initiatives
for children with special needs.
 National Down syndrome Society (NDSS)
 Prenatal
test results -FISH and full karyotype.
 Genetics /recurrence rates
 “Range of variability”, balanced and positive
outcomes
 Studies/subspecialty consults
 Available treatments/interventions
 Options
 Availability of genetic counseling.
Cont.
If they want to continue pregnancy,
 Plan for delivery/neonatal care: additional
subspecialty care.
 Parent- to- parent contact, local national
groups.
 Referral to clinical geneticist.
 Refer to Maternal Fetal Medicine clinic.
 National
Down syndrome
society -www.ndss.org.
 Prenatal


diagnosis
FISH and full karyotype.
obtain copy of the prenatal test results.
 Postnatal


diagnosis NEW
Share as soon as team suspects the diagnosis.
Karyotype only.
 FISH

rapid (24-48 hrs) but cannot distinguish among
mosaic, translocation and trisomy 21

Head


brachycephaly
Eyes
Inner epicanthal folds,
 Brushfield spots
 Upward slanting palpebral fissures


Face
Flat appearing,
 low nasal bridge,
 small ears
 Excessive protrusion of tongue


Neck

excessive skin at the nape of the
neck,short neck
Cont.
 Fingers


and Toes
single transverse palmar crease, and
short fifth finger with clinodactyly.
Brachydactyly, wide spacing of 1st
and 2nd toes.
 CVS

VSD and endocardial cushion
defects.
 CNS

Absent or diminished Moro reflex,
Hypotonia and joint hyperflexibility.










Structural problems with
formation of the heart (40-50%)
CAVC (45%)
VSD (35%)
PDA (7%)
TOF (4%)
Other (1%)
Every newborn needs echo
Monitor symptoms of CHF
(Feeding, tachypnea, poor
weight gain)
Increased risk for pulmonary
hypertension.
Refer to cardiologist if echo
abnormal
 NEW
Refer to modified barium study/MBS.
 Marked hypotonia.
 Slow feeding
 Choking with feeds
 Unexplained FTT
 Recurrent pneumonia
 Recurrent or persistent respiratory sx.
 To begin with they have anatomical issues Oral anomalies, tongue protrusion.
From late infancy, children with DS show a
relative increase in Mean weight-forlength and weight-for-height
BMI (weight/stature2)
Excessive weight is a problem in
adulthood.
One study of individuals with Down
syndrome showed







Less than 15% were within desirable with
range
20-30% were overweight, and
Almost 50% were obese
 Breast
milk is ideal food for support.
 Consult lactation support early.
 Oromotor benefits.
 Many babies get to breast milk later.
Encourage pumping!
 Reassure parents. Don’t give up!
Malformations (12%)
 Evaluate for duodenal atresia or anorectal
atresia/stenosis by history and exam.
GER If severe or contributing cardiorespiratory
problems or FTT.
Constipation Evaluate for restricted diet/limited fluid
intake, hypotonia, hypothyroidism, GI
malformations and Hirschsprung disease (1%).
Vision (60%)
 Cataracts (5%)
 May progress slowly.
 Refer to ophthalmologist for
evaluation and treatment.
Hearing (75%)
 Universal Hearing screen
(brainstem auditory evoked
potential or otoacoustic
emission) at birth.
 Follow up completed by 3 months
NEW Car-seat test: For babies
with hypotonia or recent cardiac
surgery, evaluate in car seat prior
to discharge for
 Apnea
 Bradycardia
 O2 desaturation
Stridor
 Wheezing
 Noisy breathing
If severe or cardiopulmonary
compromise or feeding problemsrefer to pulmonologist.

 10%
of newborns with DS show leukocytosis with
presence of blast cells in PBS-Transient Leukemia.
 Most children with transient leukemia go into
spontaneous remission and recover by 3 months of
age. Of those who recover 20% -acute
megakaryocytic leukemia (AML )in 4 yrs of age.
 Follow up recommended Q 3 months for PBS.
 Cure rate is more than 80%.
 If TMD, counsel parents re: risk of leukemia &
signs
 Easy bruising, petechiae, onset of lethargy and
change in feeding pattern. Incidence in DS is 1 %
 Increase
risk for respiratory infections like
RSV.
 Can see OSA even in infants
 Screening:



Car seat study to assess for apnea, bradycardia
and oxygen desats (h/o cardiac surgery,
hypotonia)
Sleep study recommended for all children by age
4 or sooner if symptomatic.
23-valent penumococcal vaccine at >2yrs if
chronic respiratory or cardiac issues.
 Congenital
Hypothyroidism (1%)
 Check TSH. Newborn screen may only include
thyroxine (T4) - Many children with DS have
mildly elevated TSH and normal T4.
 Discuss with endocrinologist.
 Susceptibility
to respiratory tract infections
 Cervical spine positioning precautions
(Anesthesia, surgery, radiology)
 Refer for early intervention.
 Family support organizations.
 Individual resources for support (friends,
clergy).
 Recurrent risk in subsequent pregnancies
 Complementary and alternative treatments
(safe and dangerous)
 Review
serous otitis media (50-70%)
 Review prior hearing test (BAER,ABR,OAE)
 If passed, re-screen at 6 months.
 If failed, refer to otolaryngologist.
 If tympanic membrane not visible, refer (and
then follow-up every 3-6 months).
 Treat middle ear dysfunction promptly
 Refer
to ophthalmologist by 6
months to evaluate for
strabismus, cataracts,
nystagmus
 Check vision at each visit
 Lacrimal duct obstruction, refer
for evaluation and surgical
repair if not resolved by 9-12
months.
Monitor infants with heart defects (VSD or AVSD)
with shunting for symptoms of CHF
 Tachypnea,
 feeding difficulties,
 poor weight gain.
Nutritional support until surgery
(NEW) If large VSD without obstruction to
pulmonary blood flow, repair by 4 months of
age to prevent pulmonary HTN.
There is risk for pulmonary HTN even without
cardiac defects.
 Incidence
is 3%
 Hemoglobin by age 1, then annually.
 Children with DS have lower dietary iron than
peers. MCV is elevated.
 Serum ferritin and CRP or reticulocyte count
should be checked for kids with low iron
intake.
Growth monitor for weight, weight/height or BMI
 (NEW) Don’t use Down syndrome charts
 DS charts are currently being revised.

Cervical spine instability
 Signs of myelopathy, careful exam and history.
Discuss maintaining neutral spine for procedures.


OSA: Discuss symptoms and refer to specialist if
symptoms are present
Cont.
 Monitor
 Check
for infantile spasms (1-13%)
TSH at 6 months,1 year
 Immunizations
-Age based and Influenza
vaccination for the year
 Support
groups
 Assess emotional status of parents,
intrafamilial relationships,
educate/support siblings.
 Review early intervention
 Discuss recurrence and prenatal testing at
least once in first year.
 Review
risk of hearing loss (30-50% age 3-5)
 Behavioral audiometry & tympanometry
every 6 months until ear-specific normal
hearing.
 Annual hearing test
 Alternatively, BAER or OAE
 Refer to otolaryngology if hearing loss
 Check
at every visit.
 Annual ophthalmology
evaluation
 50% chance of refractive errors
leading to amblyopia between
age 3-5
 Incidence
1-2%
 Discuss at least every 2 yrs

C-spine positioning for anesthetic,
surgical, radiographic procedure.
 Careful
history and physical
Symptoms parents should seek urgent medical
attention
 Change in gait or use of arms or hands
 Change in bladder or bowel function
 Neck pain, stiff neck, head tilt, torticollis,
change in head position
 Change in general function
 Weakness
Lateral x-ray in neutral only (NEW).
 if abnormal – urgent referral to neurosurgery or
orthopedic surgery
 If normal – flexion/extension films, prompt
referral
 X-rays
do not predict risk or reassurance Routine x-rays NOT recommended (NEW)
 Participation in some sports increases risk football, soccer, diving, gymnastics (older kids)
 Special Olympics may still require films.
 Incidence
(50-75%)
 Symptoms -Heavy breathing, snoring, restless
sleep, uncommon sleep positions, frequent
night awakening, daytime sleepiness, apneic
pauses, behavior problems.
 BUT poor correlation parent report with OSA.
 (NEW) Sleep study for all kids with DS by age 4.
 Refer to specialist.
 Discuss obesity as the risk factor.
 Incidence
5%
 Symptoms -Diarrhea, protracted
constipation, slow growth , FTT, anemia,
abdominal pain or bloating or refractory
developmental or behavioral problems.
 If symptoms present, check tissue
transglutaminase IgA and total IgA.
 If abnormal, refer to gastroenterologist.
 No evidence to support screen if
asymptomatic.
 TSH
annually
 Cardiology: follow up after repair.
 Neurology: monitor for seizures.
 Anemia: Check hemoglobin annually.
Ferritin and CRP if risk for iron deficiency.
Early intervention (OT, PT, Speech)
 Transition to preschool
 Behavior or social progress.
 Refer if suspicion for autism, ADHD or other
psychiatric or behavioral problem.
 Vaccination-PCV 23 at 2 yrs or older if chronic
cardiac or pulmonary disease.
 Reassure regarding delayed dental and irregular
dental eruption.
 Encourage and model accurate terms for
genitalia and respect for body parts
 Counsel re: increased risk of sexual exploitation.

 Sibling
adjustment, behavioral management.
 Socialization, recreational skills
 Child’s education program -Learning
problems -IEP
 Review
family dietary habits and physical
activity pattern.
 Obesity -Snacks and Television watching.
 SSI and Medicaid benefits.
 Investigate trust and guardian arrangements.
 ARC (Association of retarded citizens)financial and custody arrangements.
 Review
symptoms related to celiac disease.
 Cervical spine: review precautions. Instruct
family to call immediately if new symptoms
of myelopathy.
 C-spine and sports: Counsel on increased risk
with some sports.
 Dry skin: sign of hypothyroidism.
 Discuss symptoms of OSA. Refer if signs or
symptoms are present.
 Discuss obesity as a risk factor
 Review
development, appropriateness of
school placement.
 Discuss socialization, family status and
relationships, including financial
arrangements, health insurance and
guardianship.
 Discuss development of age appropriate
social skills, self help skills and development
of a sense of responsibility.
 Behavior
problems that interfere with
function at home, school and community
 Attention problems
 ADD/ADHD
 OCD
 Non compliant behavior
 Wandering off
Cont.
 Behavioral
Intervention
 Community treatment program
 Psychosocial services consult
 Behavioral specialists -may be more sensitive
to medications.
 Improve or maximize expressive language
Cont.
 Transition
to middle school.
 Independence with hygiene, discuss and
model privacy, management of sexual
behaviors.
 Pubertal changes, fertility, contraception
(depot provera)
 Gynecologic care, birth control, STDs
 Annual
Hemoglobin.
 Annual TSH
 Ear specific audiology
 Check for celiac disease symptoms.
 OSA symptoms, refer if needed
 C-spine


Symptoms and precautions
Sports
 Eyes-
Ophthalmology every 3 yrs (cataracts,
refractive errors, keratoconus which can
cause blurred vision, corneal thinning,
corneal haze)
 Cardiac follow up. If new murmur or gallop
or increased fatigue, SOB ( at rest or with
exertion), get an echo to evaluate valves.
 Transition
issues (guardianship, long term
financial planning, adult morbidities)
 Growth: BMI, healthy diet, exercise
 Behavioral and social issues: refer if chronic
problem or acute deterioration
 School



placement,
transition planning,
vocational training.
 Fertility:
Discuss recurrence with females
 Gynecologic care
Cont.
 Personal
care: Self-care, hygiene, sexual
development, STDs ,contraception.
 Living arrangements: group homes,
independent living, workshops, community
supported employment.
 Family arrangements: Financial planning,
guardianship
 Transition to adult medical care.
 www.stlouischildrens.org/our-services/down-
syndrome-center/support-groups
 www.kcdsg.org/community_groups.php
 www.connectmidmissouri.com/news/story.as
px?id=749947
 www.ozarksdsg.org
 National
down syndrome congress
 www.ndsccenter.org
 National down syndrome society
 www.ndss.org
 www.care.com
 Medical home -Accessible, continuous,
compassionate, family centered,
coordinated, compassionate, culturally
effective care.
Clinical Trials:
Effect and efficacy in treating with Donezepil
hydrochloride for cognitive dysfunction
Vitamin E in aging persons with DS.
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Management of Downs syndrome children