Peds Neurogenetics

Question 1

What are the five developmental domains?

Answer 1

gross and fine motor skills
speech and language
cognition
personal, social, emotional
activities of daily living

Question 2

What is the diagnostic yield of whole exome/genome for individuals with moderate to severe global developmental delay/intellectual disability?

Answer 2

40-56%

Question 3

What are the epilepsy panel categories?

Answer 3

febrile seizures, absence seizures, brain malformations, mitochondrial disorders, congenital disorders of glycosylation, inborn errors of metabolism

Question 4

What is lisencephaly?

Answer 4

smooth brain

Question 5

What is focal cortical dysplasia?

Answer 5

abnormal organization of neuronal layers

Question 6

What is CLOVES?

Answer 6

Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi Skeletal/Spinal anomalies

Question 7

What are the main diagnoses related to cognitive impairment?

Answer 7

developmental delay, intellectual disability, learning disability, autism, chromosomal anomalies, FRAX, PWS/AS, Rett