Down Syndrome

Question 1

Common physical features present at birth (12)

Answer 1

-  Growth parameters are usually normal
– midfacial hypoplasia
– upslanting palpebral fissures
-  epicanthal folds
– small ears
– large-appearing tongue
– low muscle tone
-  increased joint mobility
– short fingers
-  transverse palmar crease
-  Clinodactly (5th finger incurving)
-  increased space between toes 1 and 2

Question 2

Cardiac issues (% affected, recommendations, 1 specific condition often seen)

Answer 2

– Seen in approximately 50% of patients with DS
– All types of anomalies may be present, but Atrioventricular Canal is common to DS
– Echocardiogram in the newborn period is recommended

Question 3

Gastrointestinal (anatomic) (2-3)

Answer 3

Esophageal atresia, Duodenal atresia,

Hirschsprung’s (improper muscle movement in bowel)

Question 4

Gastrointestinal (digestive) (3)

Answer 4

1. constipation - very common
2. GERD (Gastroesophageal Reflux Disease) - very common
3. Celiac Dz (recommended screen is TTG + IgA)

Question 5

Opthalmic problems (5)

Answer 5

• blocked tear ducts,
• myopia
• amblyopia (lazy eye)
• Nystagmus
• Cataracts (may present in the newborn period or develop during infancy; checking for a light reflex is important at every visit)

Question 6

Ear, Nose and Throat Problems (4)

Answer 6

• chronic ear infections, deafness – both sensorineural (CN VIII) and conductive (when hearing loss is due to problems with the ear canal, ear drum, or middle ear and its little bones),
• chronic nasal congestion,
• enlarged tonsils and adenoids,
• obstructive apnea

Question 7

Endocrine Problems (autoimmune disorders) (3)

Answer 7

– Thyroid dz (RR 13-50%) – most commonly hypothyroidism which may be congenital or acquired
– Insulin Dependent Diabetes
– Alopecia Areata

Question 8

Orthopedic Problems (3)

Answer 8

– hips
– joint subluxation
– atlantoaxial subluxation

Question 9

Hematologic Issues (3)

Answer 9

– Myeloproliferative disorder in the newborn. Seen almost exclusively in babies with down syndrome (10-20%)
– increased risk of leukemia (12-20x)
– Iron deficiency anemia

Question 10

Developmental Issues (3)

Answer 10

– hypotonia affects gross motor development
– Spectrum of intellectual disability – average is mild-moderate disabilities
– speech problems (importance of sign language)

Question 11

Psychiatric Issues (3)

Answer 11

– depression
– early Alzheimer’s
– Autism (RR 10%)

Question 12

Reproductive considerations. Fertility is (normal/reduced)? Puberty is (normal/delayed)?

Answer 12

reduced fertility, normal puberty