what is Fragile X Syndrome?

Answer 1

Fragile X is a serious genetic disorder. It is caused by mutation of the X chromosome. The outcome can be significant and debilitating. It can affect males and females differently. Males may have enlarged ears, large testicles, long face, and skeletal problems. This is along with hearing loss, speech issues, and ADD issues as well. Both will have cognitive delays. Women have similar physical issues as the men, but usually not as severe.

Answer 2

Fragile X Syndrome

Genetic Disorder caused by a mutation in a gene on the X Chromosome.

Most common cause of inherited developmental delay.

There is an extra section/mutation on the X Chromosome which switches off a protein required for normal neurological development.

Affects males more frequently and severely than females.

1:250 females carry the permutation and have a 50% chance of passing to either a son or daughter.

Can be tested via the DNA studies for Fragile X Syndrome.

Clinical Features:

Mails and females present with a range of characteristics not always evident in younger children but becoming more prominent as child grows.

Physical Features:

Large or prominent ears, high broad forehead, high arched palate, soft skin, flat feet.

Developmental Characteristics

Speech and language delay – speech often disrupted in flow, repeition of words and sounds, up and down swing of pitch, rapid speech with problems of rhythm and echolalia.

Fine and gross motor skill delay.

Cognitive difficulties – range from mild learning disabilityh through to severe. Intellectual disability occurs in 80% of fragile X males and 65% of females.


Behavioural and Emotional Characteristics

Attention problems
Unusual speech patterns
Hyper arousal
Impulsive tendencies
Social anxiety and emotional instability.
Hand flapping and biting behaviours
Poor eye contact or gaze aversion.
Extreme reaction or adverse to sensory stimuli.
Obsessional interest and resistance to change.

Often misdiagnosed as autism, Aspergers or pervasive developmental delay.

More...

http://www.fragilex.org/html/physical.htm
http://genetics.faseb.org/genetics/acmg/pol-16.htm
http://www.disabilityresources.org/A.html

Answer 3

http://rarediseases.org/search/rdbdetail_abstract.html?disname=Fragile%20X%20Syndrome

Answer 4

fragilex.org has the best info, start there. Lots of luck!