Hi, this is Tom, and in this episode I'm going to be going through Fragile X syndrome.

And you can find notes at zero to finals.com slash fragile X and in the zero to finals pediatrics book.

And if you're sitting your final exams, I'd recommend checking out the

finals revision book and the revision flashcards, which are available at 0.0.5.com. So let's

jump straight in. Fragile X syndrome is caused by a CGG-trinucleotide repeat expansion in the FMR 1 gene, which is the Fragile X Messenger ribonuclear protein 1 gene, which is found on the X chromosome.

A CGG-trinucleotide repeat expansion simply means a small section of DNA repeats

too many times and this causes the gene to malfunction. The FML1 gene encodes for the

Fragile X Messenger ribonuclear protein, which plays an essential

role in cognitive development. Fragile X syndrome is inherited in an X-linked pattern.

Males who inherit the affected X chromosome will inherit the condition. Females with one affected X chromosome and

one unaffected X chromosome may also be affected by the condition, although the severity and the

features can vary. Let's talk about the features. Fagile X syndrome typically presents with a delay in speech and language

development. Other features include intellectual disability, autism spectrum disorder, a long,

narrow face with large ears, large testicles after puberty, joint hypermobility, particularly in the hands,

attention deficit hyperactivity disorder, or ADHD, and seizures. There are two additional

syndromes or features that may be associated with this genetic abnormality.

Fragile X associated tremor ataxia syndrome is a condition that can present later in adulthood

with intention tremor, cerebellar ataxia and dementia.

FMR1 primary ovarian insufficiency can present in females with ovarian failure before the age of 40 years,

meaning they have early menopause.

Finally, let's talk about management.

Management of Fragile X syndrome is supportive and it involves

...