Fragile X Syndrome

Question 1

Is fragile X or Down Syndrome the most common cause of inherited intellectual disability?

Answer 1

Fragile X is the most common cause of inherited ID

Question 2

What is the average age of diagnosis for boys and girls with Fragile X?

Answer 2

boys: 36 months
girls: 42 months

Question 3

Who is screened for Fragile X syndrome?

Answer 3

Children with IDD of unknown etiology
Children with a family history of IDD
Persons diagnosed with autism spectrum disorder

Question 4

Are males or females affected more from Fragile X syndrome?

Answer 4

Males are affected more

**Females have two X chromosomes, so there can be a compensation for the mutation, while males have only one X chromosome.

Question 5

What are the clinical manifestations of Fragile X syndrome?

Answer 5

Long and protruding ears
Long, thin face with prominent jaw
Epicanthal folds
High-arched palate
Increased head circumference
Large testes

Question 6

What are the behavioral manifestations of Fragile X syndrome?

Answer 6

Mild to severe IDD
Speech defects
Attention deficits
Autistic-like behaviors