Question

A 16-year-old boy with mild intellectual disability presents to the clinic for his ADHD evaluation. Parents claim that he has always been inattentive and impulsive. His teacher is concerned about his poor grades. Medical record shows a history of gross motor and speech delay, for which he has therapy for during childhood. Physical examination shows long/narrow face, prominent mandible, and large testes. What does he most likely have?

a. Down syndrome mosaicism
b. Ehlers-Danlos
c. Fragile X
d. Klinefelter
e. Marfan
f. Prader-Willi

Answer 1

The 16-year-old boy with a combination of behavioral symptoms and distinctive physical features likely has Fragile X syndrome, a genetic disorder that is the most common inherited cause of intellectual disability and is associated with ADHD and ASD.

Step-by-step explanation:

A 16-year-old boy with mild intellectual disability, inattentiveness, impulsivity, poor grades, a history of gross motor and speech delay, and distinctive physical features including a long/narrow face, prominent mandible, and large testes, most likely has Fragile X syndrome. Fragile X is a genetic disorder caused by a mutation on the X chromosome, which can lead to a range of developmental problems including learning disabilities and cognitive impairment.

The patient's symptoms and physical characteristics align with the typical presentation of Fragile X syndrome, which is the most common form of inherited intellectual disability in males and is associated with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD).