Developmental

Question 1

Differential diagnosis for developmental delay:

Answer 1

Genetic

• Down syndrome
• Cri-du-chat syndrome
• Prader Willi syndrome
• Angelman syndrome
• Fragile X syndrome
• Duchenne muscular dystrophy

Metabolic

• Congenital hypothydroidism
• Phenylketouria
• Galactosemia
• Homocystinuria

Neurological

• Congenital brain anomaly
• Cerebral palsy
• Neurocutaneous syndrome

Prenatal condition

• TORCHES
• Fetal alcohol syndrome

Perinatal condition

• Extreme prematurity (IVH)
• HIE
• Metabolic; hypoglycemia, hyperbilirubinemia

Postnatal condition

• Brain injury
• CNS infection
• Metabolic

Question 2

Definition of failure to thrive

Answer 2

2 major percentiles below 5th centile

If one parameter -> Poor weight gain

Question 3

Cause of failure to thrive:

Answer 3

Reduce intake

• Breastfeeding insufficiency
• Artificial feeding
• Chronic infection (i.e UTI)
• Vitamin deficiency

Reduce absorption

• Cystic fibrosis
• CHO intolerance
• Malnutrition
• Hirchsprung disease

Increase loss

• Vomiting
• Diarrhea
• Excessive perspiration

Concurrent illness

• Metabolism; renal acidosis, hypercalcemia, T1DM, adrenocortical hyperplasia
• Chr illness; mental retardation, cerebral tumor, CHD, severe asthma, bronchiectasis, renal insufficiency, liver cirrhosis
• Chronic infection