Cri-du-chat syndrome

Healthcare/Doctors

What specialist doctors should I see with Cri-du-chat syndrome?

Individuals with Cri-du-chat syndrome should receive regular primary care through a pediatrician, family doctor or other primary care physician. Individuals with Cri-du-chat syndrome may also benefit from evaluation by a medical geneticist and genetic counseling. A medical geneticist may be able to help ensure that an individual with Cri-du-chat syndrome is seen by all of the appropriate specialists. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

The specific specialists an individual with Cri-du-chat syndrome should see is somewhat dependent on the specific symptoms an individual has. For example, a child with difficulty feeding as a newborn may benefit from therapy intervention in the first few weeks of life. Some individuals with Cri-du-chat syndrome may have hearing loss and would benefit from seeing an audiologist. It is recommended that all individuals with Cri-du-chat syndrome receive early intervention services in the form of physical, occupational and speech therapy services as appropriate, as well as receive whatever educational support is available through school to maximize a child's developmental and learning potential.

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If my child has Cri-du-chat syndrome, what should my doctor know about managing the disease?

If my child has Cri-du-chat syndrome, what should my doctor know about managing the disease?

If your child has Cri-du-chat syndrome his or her doctor should be familiar with the specific set of symptoms and health problems affecting your child, and ensure that your child is managed by the appropriate medical specialists. This often involves evaluation by a medical geneticist and genetic counseling.

It is important for doctors caring for individuals with Cri-du-chat syndrome to know that anesthesia (pain management during surgery) can be challenging to manage in people with Cri-du-chat syndrome because of possible differences in their airway. In the first year of life, respiratory (lung) and intestinal (gut) infections are common in children with Cri-du-chat syndrome. Their doctor should be aware of these symptoms and help monitor for infections and treat as appropriate. The doctor should expect that the child with Cri-du-chat syndrome may have developmental and/or learning problems and be able to refer to interventional services such as physical, occupational and speech therapy as appropriate.

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