Early Childhood Intervention
This website is a place for families who are facing
challenges pertaining to their child's development and
growth.
It is a place to find answers and practical
suggestions. That's what Early Intervention Support is all
about.
Whether a family has a child with a challenging behavior,
a disability or developmental issue, childhood is short - it
should be savored and enjoyed.
Learn More:
Ask a Therapist
We understand developmental milestones and the challenges
of Special Needs children. We spend a great deal of time
with families understanding the inner workings of childhood
routines and interactions. Ask us about your child today!
Ask a Therapist
Hurler Syndrome
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Hurler Syndrome is a rare, inherited disease of the metabolism.
Children with this disease cannot break down long chains of sugar
molecules called glycosaminoglycans.
Hurler Syndrome Symptoms
- A baby with this condition may be quite large at birth and appear
normal, but may have an inguinal hernia (in the groin), or his or her
umbilical cord may pass through the abdomen.
- By the end of the first year, developmental delays are evident.
- A baby with Hurler Syndrome may initially grow taller faster than
normal, and then begins to slow before the end of the first year and
often ends around age 3. Usually, a baby with this condition stops
developing between ages 2 and 4.
- Language may be limited due to hearing loss.
- Tongue may be enlarged.
- The clear layers of the cornea become clouded and retinas may begin
to degenerate.
- Carpal tunnel syndrome (or similar compression of nerves elsewhere
in the body) and restricted joint movement are common.
- Many children develop a short body trunk and a maximum stature of
less than 4 feet.
- Distinct facial features (including flat face, depressed nasal
bridge, and bulging forehead) become more evident in the second year.
- By age 2, the ribs have widened and are oar-shaped. The liver,
spleen and heart are often enlarged.
- A child may experience noisy breathing and recurring upper
respiratory tract and ear infections.
- Feeding may be difficult for some children, and many experience
periodic bowel problems.
What is the cause of Hurler Syndrome?
Hurler Syndrome is an inherited disorder.
How is Hurler Syndrome diagnosed?
Amniocentesis and chorionic villus sampling can indicate if a fetus
either carries a copy of the defective gene or is affected with the
disorder. Genetic counseling can help parents who have a family history of
the mucopolysaccharidoses determine if they are carrying the mutated gene
that causes the disorders.
Diagnosis often can be made through clinical examination of your baby and
urine tests (excess mucopolysaccharides are excreted in the urine). Enzyme
assays (testing a variety of cells or body fluids in culture for enzyme
deficiency) are also used to provide definitive diagnosis.
Treatment of Hurlers Syndrome
Enzyme replacement therapy has proven useful in reducing non-neurological
symptoms and pain.
Other treatment options include bone marrow transplantation and umbilical
cord blood transplantation. These two treatments can successfully cure the
mucopolysaccharidoses. Abnormal physical characteristics, except for those
affecting the skeleton and eyes, can be improved, and neurologic
degeneration can often be halted.
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List of Diagnosis
Learn More About Early Intervention
Therapy Options
Thankfully, there are many ways to deal with childhood developmental
delays and behaviors. These include in-home services, outpatient (you take
your child to a clinic), inpatient (following injury or surgery) and school
based services. Which type of therapy should you choose?
Visit our Therapy Options
area to learn more.
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