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
Tay-Sachs Disease
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Tay-Sachs Disease is a fatal genetic lipid storage disorder in
which harmful quantities of a fatty substance called ganglioside GM2
build up in tissues and nerve cells in the brain.
The condition is caused by insufficient activity of an enzyme called
beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty
materials known as gangliosides. Gangliosides are made and biodegraded
rapidly in early life as the brain develops.
Tay Sachs Disease Symptoms
Infants with Tay-Sachs disease appear to develop normally for the first
few months of life. Then, as nerve cells become distended with fatty
material, a relentless deterioration of mental and physical abilities
occurs.
The child becomes blind, deaf, and unable to swallow. Muscles begin to
atrophy and paralysis sets in. Other neurological symptoms include dementia,
seizures, and an increased startle reflex to noise. A much rarer form of the
disorder occurs in patients in their twenties and early thirties and is
characterized by an unsteady gait and progressive neurological
deterioration.
Persons with Tay-Sachs also have cherry-red spots in their eyes.
Who is at Risk For Developing Tay Sachs?
The incidence of Tay-Sachs is particularly high among people of Eastern
European and Askhenazi Jewish descent.
Patients and carriers of Tay-Sachs disease can be identified by a simple
blood test that measures beta-hexosaminidase A activity. Both parents must
carry the mutated gene in order to have an affected child. In these
instances, there is a 25 percent chance with each pregnancy that the child
will be affected with Tay-Sachs disease.
Prenatal diagnosis is available if desired.
Treatment of Tay Sachs Disease
Presently there is no treatment for Tay-Sachs disease. Anticonvulsant
medicine may initially control seizures. Other supportive treatment includes
proper nutrition and hydration, and techniques to keep the airway open.
Children may eventually need a feeding tube.
Where Can I Get More Information?
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Brighton, MA 02135
Phone 617-277-4463 or 800-90-NTSAD (906-8723)
Fax 617-277-0134
E-mail info@ntsad.org
Website: www.ntsad.org
Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008-2369
Phone 202-966-5557 or 800-336-GENE (4363)
Fax 202-966-8553
E-mail info@geneticalliance.org
Website: www.geneticalliance.org
March of Dimes Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Phone 914-428-7100 or 888-MODIMES (663-4637)
Fax 914-428-8203
E-mail askus@marchofdimes.com
Website: www.marchofdimes.com
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
Phone 800-999-NORD (6673) or 203-744-0100 (Voice Mail)
Fax 203-798-2291
E-mail orphan@rarediseases.org
Website: www.rarediseases.org
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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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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