Signs and symptoms of Fragile X

The signs and symptoms
of Fragile X can vary a lot from child to child. Some children are very
obviously affected, whereas others have more subtle symptoms.

Physical characteristics 
Fragile X can be hard to spot physically. But some children with Fragile X
might have the following physical features:

·       
long and narrow face

·       
prominent ears

·       
poor muscle tone – which
can cause crossed eyes or a squint, extra curve in the spine or slack face
muscles (particularly in young children)

·       
loose joints (‘double
joints’) that move a lot more than usual

·       
flat feet.

Cognitive signs 
Intellectual disability and developmental delay are the most common features of
Fragile X. Many children with Fragile X also have difficulties with fine motor skills, gross motor skills and delayed
speech development. Cognitive signs 
Intellectual disability and developmental delay are the most common features of
Fragile X. Many children with Fragile X also have difficulties with fine motor
skills, gross motor skills and delayed speech
development.

Behaviour signs 
If your child has Fragile X, you might notice some that your child behaves
differently from other children or has delayed development.

Other common signs of
Fragile X include:

·       
shyness and anxiety, particularly in new situations

·       
attention deficit hyperactivity disorder (ADHD)

·       
characteristics of autism spectrum disorder

·       
repetitive speech

·       
sensitivity to touch or
dislike of loud noises

·       
difficulty making eye
contact

·       
aggression. 

Associated medical
concerns 
Children with Fragile X can have other medical concerns like:

·       
heart murmurs

·       
reflux

·       
ear infections 

·       
vision problems

·       
seizures.

If your child has these
problems, your paediatrician can diagnose them and help you find ways to manage
them in everyday life.

Ability not disability

Children with Fragile X
often have a strong sense of humour and enjoy having fun, which can
help overcome their social anxieties. And they’re often really good at things
like:

·       
learning visually, using
pictures or computers

·       
recognising words,
numbers and patterns 

·       
remembering things, like
songs, movies or sports events 

·       
undertaking practical,
relevant tasks 

·       
doing essential daily
tasks 

·       
being compassionate,
helpful and friendly.

Children learn the most
from the people who care for them and with whom they spend most of their time,
so everyday play and communication with your child can help her a lot.

Diagnosis and testing for Fragile X syndrome

Fragile X can be
diagnosed at any age, from before birth to adulthood. But the earlier
it’s spotted the better, because early treatment can help children
reach their full potential.

All children who have an
intellectual disability, developmental delay or autism should be tested for
Fragile X.

It’s also a good idea to
have your child tested for Fragile X if:

·       
your family has a
history of Fragile X syndrome, intellectual disability or developmental delay

·       
your child has the
physical features or behaviour of Fragile X (regardless of family history)

·       
your child has
significant learning problems, trouble with understanding, ADHD or anxiety.