Lissencephaly

Question 1

What does it mean?

Answer 1

It literally means smooth brain

Question 2

What is it caused by?

Answer 2

Caused by faulty neuronal migration during embryonic development

Question 3

What is the prevalence?

Answer 3

1.2/100,000 births

Question 4

What is its etiology?

Answer 4

Lissencephaly may be due to various non-genetic
(spontaneous) and genetic factors. These factors may
include intrauterine infection, insufficient supply of oxygenated blood to the brain, etc

Question 5

What are the unique characteristics?

Answer 5

Deceased muscle tone and muscle spasms
Growth failures and motor ability impairments.
High rates of seizures
Profound to severe intellectual disability.
Difficulty feeding, swallowing and eating.
Malformations of hand, fingers or toes

Question 6

Life expectancy

Answer 6

Average life expectancy is about 10 years old

Question 7

Support needs

Answer 7

Physical therapy
Medications
Treatment goal
Assistive devices