Could Your Baby Have Angelman Syndrome?

Health & Medical Blog

Angelman syndrome is a rare neurogenetic disorder associated with a missing or defective gene on chromosome 15 that affects one in every 15,000 infants born. Since the disorder affects the nervous system, a child with the syndrome experiences neurological problems and developmental disabilities.

Treatment varies depending on a child's symptoms and their severity. Therefore, if your baby appears to be developmentally delayed or shows other symptoms that concern you, it's important to take him or her to see a doctor. Early diagnosis can lead to early intervention, which can help improve your child's quality of life now and in the future.

What symptoms do children with Angelman syndrome have?

Babies with Angelman syndrome often begin to show developmental delays between 6 and 12 months of age. Although a baby may smile and laugh frequently, he or she may not be able to crawl or babble.

Some infants with the disorder have feeding problems—which can lead to weight loss during the first months of life—because they can't suck and swallow. Seizures also may begin during the toddler years, and a child may be unable to balance well. Stiffness and the inability to balance can cause motor issues, including an unstable gait. Tongue thrusting, hand flapping, and jerky movements are additional symptoms some children with Angelman's experience. A small head is another physical characteristic of the syndrome. Some individuals also have unusually fair skin and light-colored hair and eyes.

Since many of the symptoms of Angelman syndrome are similar to those of autism spectrum disorder and cerebral palsy, the disorder is sometimes misdiagnosed.

How do doctors diagnose Angelman syndrome?

If, following examination, your child's doctor suspects that he or she may have Angelman syndrome, genetic tests can confirm the diagnosis. A blood sample reveals chromosomal defects related to the syndrome.

In cases where a child has characteristics of the disorder such as delayed motor development, speech impairment, epilepsy, mental retardation, and mouth or jaw deformities, a doctor may make a clinical diagnosis if genetic testing comes back negative for Angelman syndrome.

How does a health care team treat Angelman syndrome?

Since currently there is no cure for the disease, doctors and other health care professionals concentrate on managing medical and developmental issues that arise. Your child's treatment plan may include:

  • Physical therapy if he or she has stiffness and trouble walking
  • Behavior therapy if your child is hyperactive
  • Communication therapy—which may include instruction in sign language—if your child has a speech impairment

In addition to therapies, doctors usually prescribe anti-seizure medications for children with Angelman syndrome who suffer seizures. Some children also have sleep disorders that require medication.

For more information, contact local professionals like Allegheny Brain And Spine Surgeons.


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