Down Syndrome

Objectives

Be familiar with the genetic basis for

Down Syndrome
Know the common physical stigmata
of Down Syndrome
Be comfortable caring for children
with Down Syndrome and what
testing and routine care is
recommended

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Etiology

Most commonly recognized genetic

cause of mental retardation: prevalence
of 9.2 cases per 10,000 live births
Diagnosed by Karyotype:
95% - Trisomy 21
2% - Mosaicism (mix of diploid and trisomy
21)
3 % - Robertsonian translocation (part or
all of extra chromosome 21 fused with
another chromosome)

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Etiology

95 percent of occurrences of trisomy 21

result from nondisjunction during
meiotic division of the primary oocyte

Most trisomy 21 pregnancies prove to

be nonviable

1/4 of fetuses with trisomy 21 survive to

term

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Etiology Risk
Assessment

Maternal Age
1/1,300 for a 25-year-old woman
1/365 for age 35
1/30 for age 45

At age 35, the second-trimester

prevalence of trisomy 21 (1/270)
approaches the estimated risk of fetal
loss due to amniocentesis (1/200)
This became cutoff for screening

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Advanced Maternal Age

as Risk Factor

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Etiology Risk
Assessment

15-18 Weeks Gestation : triple test

detects 60% of pregnancies affected by
trisomy 21
False positive rate about 5%
Alpha-fetoprotein (AFP), unconjugated estriol
and human chorionic gonadotropin (hCG)

Ultrasound in 1st trimester increases

sensitivity to close to 80% with no
change in false positive rate

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Etiology Risk
Assessment

Ultrasound in 2nd trimester findings possible:

Intrauterine growth restriction

Mild cerebral ventriculomegaly
Choroid plexus cysts
Increased nuchal fold thickness
Cystic hygromas
Echogenic intracardiac foci
Congenital heart defects
Increased intestinal echogenicity
Duodenal atresia ("double-bubble sign")
Renal pelvis dilation
Shortened humerus and femur
Increased iliac wing angle
Incurving (clinodactyly) and hypoplasia of the fifth
finger
Increased space between first and second toes
Two-vessel umbilical cord

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Etiology Risk
Assessment
Diagnostic Gestational
procedure
age when
test is done
(weeks)
Early
10 to 12
amniocentes
is
Early
12 to 15
amniocentes
is
2nd15 to 20
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Risk of
fetal loss
(%)
0.5 to 1.5

1.0 to 2.0

0.5 to 1.0

Clinical Findings

Brachycephaly
63-98%
Oblique palpebral
fissures
70-98%
1st & 2nd toe gap
44-97%
Loose skin on neck
17-94%
Hyperflexibility
47- 92%
Ear abnormalities
(low folded, stenotic)
28-91%
Protruding tongue and
small, narrow palate
32-89%
Flat nasal bridge 57-87%
Muscular hypotonia
21-85%
Epicanthal folds 28-79%
Brushfield spots (ring
of iris speckles) 35-78%

Short fifth finger 51-77%

In-curved fifth finger
4377%
Short broad hands
3875%
High arched palate
5974%
Single palmar crease
4264%
Cardiac defect
(1/2 AV canal defects)
4050%
Transient myelodysplasia
of the newborn 10%
Duodenal atresia 5-8%

Yellow - Highly specific to Down

Syndrome

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Medical
Problems
By System

Cardiac

ALL newborns with the syndrome should have an

electrocardiogram and a screening
echocardiogram, even if a murmur is not present.
Most common anomalies are:

complete atrioventricular canal defects (60 percent)

ventricular septal defects (32 percent)
tetralogy of Fallot (6 percent)
ostium secundum atrial septal defect (1 percent)

The long-term prognosis is best when an infant

with a cardiac defect is promptly referred to a
pediatric cardiologist for medical management to
prevent pulmonary hypertension or to a pediatric
cardiac surgeon for early surgical repair

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Gastrointestinal

Various defects are associated with

Down syndrome: Esophageal atresia,
Tracheoesophageal fistula, Pyloric
stenosis, Duodenal atresia, Meckel's
diverticulum, Hirschsprung's disease,
Imperforate anus
GERD may require medication
Constipation usually dietary
management is enough

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Ear, Nose and Throat

Problems

Midfacial malformations prevent optimal

drainage of eustachian tubes and sinuses
susceptible to otitis media, sinusitis and
pharyngitis
sequelae can include hearing loss, chronic
infection, pneumonia, sepsis, endocarditis or
congestive heart failure in infants with
concomitant heart defects

Auditory brainstem response testing to

evaluate for hearing loss should be
performed when an infant with Down
syndrome by 6 months old

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Orthopedic Problems

Associated problems: Atlanto-occipital instability,

Atlantoaxial instability, Hyperflexibility, Scoliosis, Late hip
dislocation (after two years of age), Slipped capital femoral
epiphysis, Patellar subluxation or dislocation, Foot
deformities
Xrays of the flexed and extended cervical spine were
recommended as screening tests in the past for atlantoaxial
instability when children with Down syndrome reach the
age of two years or before they undergo general anesthesia

Although screening radiographs are controversial, 13% of children

with Down syndrome have asymptomatic atlantoaxial instability that
should be monitored and that precludes their participation in
contact sports

ALL children with Down Syndrome should be referred to

Early Intervention from birth for physical therapy services

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Endocrine Disorders

Thyroid Disease thyroid function

tests should be done at birth and at
least annually

Gonadal dysfunction and growth

hormone deficiency - These
problems may require hormonal
therapy

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Ophthalmology

Congenital cataracts - occurs more

frequently in children with Down syndrome
than in other children

Red (fundus) reflexes should be checked at birth.

Consultation with a pediatric ophthalmologist

during the first year is necessary

Ocular problems that may be correctable:

Congenital and acquired cataracts, Nystagmus,
Strabismus, Dacryostenosis, Blepharitis,
Keratoconus, Refractive errors (myopia,
astigmatism), Amblyopia, Increased retinal
vasculature, Glaucoma

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Other Systems

Transient myeloproliferative disorder

(leukemoid reaction) occurs in 10%

Learning point: normal infants who exhibit

leukemoid reactions within the 1st two months of life
should be evaluated by karyotype for mosaic Down
syndrome

Seizures - 5-10% of Down Syndrome children

Dental: Delayed eruption, Atypical patterns of
eruption, Congenitally missing teeth, Unusually
shaped teeth, Enamel defects, Orthodontic
problems, Bruxism, Periodontal disease

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Psychosocial Issues

Initial Counseling:

If not sure of the diagnosis when initial testing

done, say so. We are concerned that your child
shows some signs of Down Syndrome and with your
permission I would like to draw blood and test for
this. You should point out what physical traits you
see to help with denial by the parents.
Try to have both parents present when you talk to
them - The parents may react with shock, denial,
anger, grief, fear, acceptance or any combination of
these emotions. The physician should acknowledge
the parents' feelings and their right to have them
The infant should be referred to by name, so that
his or her worth as a human being can be stressed.

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Psychosocial Issues

The mother and father may benefit

from an opportunity to meet with the
parents of an older child with Down
syndrome. Such a meeting may
provide tangible proof that a child
with Down syndrome can thrive and
become a vital part of the family
Provide web based and written
resources

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Final Note

Life tables published in 1989 showed

that more than 50 percent of infants
with Down syndrome could be
expected to live more than 50 years

As mortality rates for the operative

repair of congenital heart defects
continue to decrease, survival may
increase considerably

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Resources

Books
Libby Kumin. Communication skills in children with Down syndrome: a guide
for parents. Rockville, Md.: Woodbine House, 1994.
Siegfried M. Pueschel. A parent's guide to Down syndrome: toward a brighter
future. Baltimore: Paul H. Brookes, 1990.
Kay Stray-Gundersen, ed. Babies with Down syndrome: a new parents' guide.
2d ed. Bethesda, Md.: Woodbine House, 1995.
World Wide Web
America Online

--Personal Empowerment Network chatroom (keyword: PEN)

--Better Health and Medical Network, disabilities forum, support chats, Down
syndrome

Down Syndrome newsgroup: http://www.downsyndrome.com (other resources

linked to this Web page)
Organizations
National Down Syndrome Congress: 1-800-232-6372
National Down Syndrome Society: 1-800-221-4602
National Parent to Parent Support and Information System: 1-800-651-1151
La Leche League International (breast-feeding information and support): 1800-525-3243

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