Fetal alcohol spectrum disorder: The Daily PANCE Blueprint
A 5-year-old girl is evaluated for developmental concerns. She was adopted at birth, and limited prenatal history is available. Her adoptive parents report she has struggled with learning, attention, and coordination. She is small for her age, with height and weight both below the 5th percentile. Physical examination reveals characteristic facial features including a flat nasal bridge, epicanthal folds, thin upper lip, and absent philtrum. She also demonstrates poor fine motor skills and difficulty following multi-step instructions. Her cardiac exam is normal. Which of the following is the most likely diagnosis?
A. Down syndrome
B. Fetal alcohol spectrum disorder
C. Phenylketonuria
D. Turner syndrome
E. Williams syndrome
Answer and topic summary
The answer is B. Fetal alcohol spectrum disorder
This patient’s growth deficiency, characteristic facial features including thin upper lip, absent philtrum, and neurodevelopmental impairments strongly suggest fetal alcohol spectrum disorder (FASD). FASD occurs due to prenatal alcohol exposure, which disrupts fetal development particularly affecting brain growth and facial formation. Diagnosis requires documentation of growth deficiency (height/weight ≤10th percentile), characteristic facial features (smooth philtrum, thin vermilion border, small palpebral fissures), and central nervous system abnormalities (developmental delays, behavioral issues, cognitive impairment). While prevention through alcohol abstinence during pregnancy is crucial, treatment focuses on early intervention services, special education support, behavioral therapy, and family counseling. Additional management includes screening for common comorbidities like ADHD, anxiety, and learning disabilities.
View blueprint lesson
Smarty PANCE Content Blueprint Review:
Covered under ⇒ Pediatric (EOR): Psychiatry/Behavioral Medicine
