The Fragile X

Syndrome
Students:
Fiorella Matamoros
Kevin Monge
Cristina Valverde
 Causes
● There is a mutation or change in the normal sequence of the
FMR1 gene.
● The mutation leads to the inactivation of the gene.
● There are more than 200 repetitions of the gene.
 How is the fragile x syndrome
inherited?
● It follows the same pattern of any disease linked to the X
Chromosome.
● The function of the FMR1 gene is not so affected.
● A carrier man will never pass on the full mutation.
● Men are more likely to suffer the syndrome, and women situation is
more irregular.
 Symptoms and physical
Some common traits among the majority of men
who suffer from this syndrome are:

traits in men
A long, large, and
narrow face
Flat feet Flexible joints

A prominent jaw Large ears Large testes

and forehead (macroorchidism),
after puberty.

➔ Patient’s age is crucial

➔ Regular check ups to prevent other diseases (Strabismus)
➔ Intellectual disability----Brain
 Physical Traits in
Some of the female patients with this syndrome could present the
WoMEN
following traits:

Prominent chin Large ears Visible and large

joints
A long, large, Hypermobility Thin skin
and narrow face
Squint Flat feet Arched palate
Physical Traits in
WoMEN
 Psychological Traits in
This syndrome influence many aspects of the psychological traits in

WoMEN
women, the patient is not necessarily being affected by all of the
following symptoms:

Intellectual Disability Hyperactivity

Delay in speech onset Autistic Behaviors
Type of Depressive Disorder Social Anxiety
Shyness Impulsiveness
Low tolerance to frustration Irritability
 the Fragile X Syndrome
●
associated
Heart mumur
diseases
● Premature Ovarian Failure
● Deficiency in estrogen production
● Neurological problems
 the fragile X Syndrome
● Consequences
Modification in the cognitive tissue
● Chronic ear, nose, and throat problems
● Visual problems
● Modifications in the bioelectric brain activity
● Sleep disorders
 SOCIAL
● New situations adapting
difficulties
● Frustration / anxiety.
●

●
Not thinking about the
consequences of an act
Low tolerance to frustration.
CONSEQUEN
●

●
●
Lack of cognitive flexibility

Irony is not well understood. CES

Expressing difficulties at the time of speaking.
● Little awareness of how others perceive them.
● Irritability.
● Others’ point of view is not taken into account
 POSSIBLE
TREATMENTS
● Folic acid
● Valproic acid (ADHD)
● Clonidine
● Minocycline
● Serotonin
● Cognitive and behavior therapies
● Educational and behavioral intervention
 Interview
● 1. Which is the percentage of the Fragile X Syndrome in Costa
Rica?

● 2. How do you describe Fragile X Syndrome?

● 3. What is the process that is required to diagnose a child with

this syndrome? Which age is appropriate to start with the medical
diagnoses?
Interview
Interview
 Interview
● 4. How is the life quality and lifestyle of the people who suffer from
this condition?

● 5. Why is this syndrome incurable?

● 6. Is there an organization in Costa Rica that provides specialized

care to the people affected by the syndrome?
 Interview
● 7. Explain why Fragile X Syndrome affects men more often.

● 8. Which is the importance of geneticists in this type of

syndromes?

● 9. Which is the possibility that a couple without the syndrome have

children with this condition?
 Interview
A a
A AA Aa
a Aa aa

50% Heritable
25% Has it
25% Clean
 Conclusions
● The Fragile X Syndrome can affect both men and women.
● People with this syndrome can live a normal life.
● It does not have a cure.