Neurodevelopment

Question 1

What is the risk if parents have one child with autism that any subsequent children will also have it?

Answer 1

10-13%

Question 2

What are the classical features of type 1 lissencephaly?

Answer 2

Severe hypotonia
Paucity of movements

Question 3

What gene is implicated in fragile X syndrome?

Answer 3

FMR1 gene

Question 4

What are the typical features of fragile X syndrome?

Answer 4

Autism
Macrocephaly
Large ears
Long face

Question 5

What are the typical features of periventricular heterotropia?

Answer 5

Mid-adolescent onset of epilepsy
Intracranial arterial calcifications and periventricular hypodensities on CT brain along with nodularity of the ependymal surface of the ventricles

Question 6

What causes periventricular heterotropia?

Answer 6

Failure of neurones to migrate to the correct place during fetal development

Question 7

What 3 abnormalities make up Dandy-Walker malformation?

Answer 7

Hypoplasia of cerebellar vermis
Cystic dilatation of the 4th ventricle
Enlarged posterior fossa