Disease: Angelman syndrome


    Angelman syndrome is a genetic disorder. It causes developmental disabilities, neurological problems and sometimes, seizures.

    People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities.

    Developmental delays, between about 6 and 12 months of age, are usually the first signs of Angelman syndrome. Seizures often begin between the ages of 2 and 3 years old.

    People with Angelman syndrome tend to live a normal life span, but the disease cannot be cured. Treatment focuses on managing medical and developmental issues.

    Source: http://www.mayoclinic.com


    Angelman syndrome signs and symptoms include:

    • Developmental delays, including no crawling or babbling at 6 to 12 months
    • Intellectual disability
    • No speech or minimal speech
    • Difficulty walking, moving or balancing well (ataxia)
    • Frequent smiling and laughter
    • Happy, excitable personality

    People who have Angelman syndrome may also have other signs and symptoms, including:

    • Seizures, usually beginning between 2 and 3 years of age
    • Stiff or jerky movements
    • Small head size, with flatness in the back of the head (microbrachycephaly)
    • Tongue thrusting
    • Hair, skin and eyes that are light in color (hypopigmentation)
    • Unusual behaviors, such as hand flapping and arms uplifted while walking

    When to see a doctor

    Most babies with Angelman syndrome don't show signs or symptoms at birth. The first signs of Angelman syndrome are usually developmental delays, such as lack of crawling or babbling, between 6 and 12 months.

    If your child seems to have developmental delays or if your child has other signs or symptoms of Angelman syndrome, make an appointment with your child's doctor.

    Source: http://www.mayoclinic.com


    Angelman syndrome is a genetic disorder. It's usually caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene.

    A missing or defective gene

    You receive your pairs of genes from your parents — one copy from your mother (maternal copy) and the other from your father (paternal copy).

    Your cells typically use information from both copies, but in a small number of genes, only one copy is active.

    Normally, only the maternal copy of the UBE3A gene is active in the brain. Most cases of Angelman syndrome occur when part of the maternal copy is missing or damaged.

    In a few cases, Angelman syndrome is caused when two paternal copies of the gene are inherited, instead of one from each parent.

    Source: http://www.mayoclinic.com


    Your child's doctor may suspect Angelman syndrome if your child has developmental delays and other signs and symptoms of the disorder, such as problems with movement and balance, small head size, flatness in the back of the head, and frequent laughter.

    A definitive diagnosis can almost always be made through a blood test. This genetic testing can identify abnormalities in your child's chromosomes that indicate Angelman syndrome.

    A combination of genetic tests can reveal the chromosome defects related to Angelman syndrome. These tests may review:

    • Parental DNA pattern. This test, known as a DNA methylation test, screens for three of the four known genetic abnormalities that cause Angelman syndrome.
    • Missing chromosomes. A chromosomal microarray (CMA) can show if portions of chromosomes are missing.
    • Gene mutation. Rarely, Angelman syndrome may occur when a person's maternal copy of the UBE3A gene is active, but mutated. If results from a DNA methylation test are normal, your child's doctor may order a UBE3A gene sequencing test to look for a maternal mutation.

    Source: http://www.mayoclinic.com


    Complications associated with Angelman syndrome include:

    • Feeding difficulties. Difficulty coordinating sucking and swallowing may cause feeding problems in infants. Your pediatrician may recommend a high-calorie formula to help your baby gain weight.
    • Hyperactivity. Children with Angelman syndrome often move quickly from one activity to another, have a short attention span, and keep their hands or a toy in their mouths. Hyperactivity often decreases with age, and medication usually isn't necessary.
    • Sleep disorders. People with Angelman syndrome often have abnormal sleep-wake patterns and need less sleep than most people. Sleep difficulties may improve with age. Medication and behavior therapy may help control sleep disorders.
    • Curving of the spine (scoliosis). Some people with Angelman syndrome develop an abnormal side-to-side spinal curvature over time.
    • Obesity. Older children with Angelman syndrome tend to have large appetites, which may lead to obesity.

    Source: http://www.mayoclinic.com


    In rare cases, Angelman syndrome may be passed from an affected parent to a child through defective genes. If you're concerned about a family history of Angelman syndrome or if you already have a child with Angelman syndrome, consider talking to your doctor or a genetic counselor for help planning future pregnancies.

    Source: http://www.mayoclinic.com

    Coping and support

    Finding out that your child has Angelman syndrome can be overwhelming. You may not know what to expect. You may worry about your ability to care for your child's medical concerns and developmental disabilities. There are resources that can help.

    Work with a team

    Find a team of doctors and therapists you trust to help you with important decisions about your child's care and treatment. These professionals can also help you find local resources.

    Consider a support group

    Connecting with other families facing similar challenges may help you feel less alone. Ask your child's doctor for information about local support groups and other helpful organizations.

    Source: http://www.mayoclinic.com

    Risk factors

    Angelman syndrome is rare. Researchers usually don't know what causes the genetic changes that result in Angelman syndrome. Most people with Angelman syndrome don't have a family history of the disease.

    Occasionally, Angelman syndrome may be inherited from a parent. A family history of the disease may increase a baby's risk of developing Angelman syndrome.

    Source: http://www.mayoclinic.com

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