Fragile-X syndrome

FMR1 gene on X-chromosome

– Increased repeats of CGG trinucleotides

– More than 200 CGG repeats (normally <45)

– Reduced expression of Fragile-X Mental Retardation (FMR1) protein

 

Features in young children:

– Speech delay

– Motor delay

– Behavioural issues

 

Features in older children:

Dysmorphic features become more apparent

– Large jaw

– Large ears

– Large forehead

– Large testes in males

 

Associated disorders:

– Learning disorders

– Autism

– Behavioural disorders (e.g. ADHD)

– Mood / mental health disorders

– Seizures

 

Supportive Management:

– Early intervention for development

– Behavioural strategies

– Learning support in school

–  Sometimes medications for mood issues, ADHD, seizures, etc