What is Angelman syndrome?

Angelman syndrome is a condition that involves severe developmental and neurological defects, including the inability to speak and has difficulty walking and balancing ataxia.

What are the symptoms of Angelman syndrome?

Symptoms of Angelman syndrome include:

• Failure to crawl or babble by 6 to 12 months
• Intellectual disability
• No speech at all or very little speaking
• Cannot walk, move, or balance
• May smile and laugh frequently and always appear to be in a happy mood
• May be easily provoked
• Has trouble sucking or eating.
• Trouble sleeping as well as sleep maintenance.

Among other symptoms, people with Angelman syndrome may experience:

• Seizures mostly appearing between ages 2 to 3 years old
• Stiff or jerk
• Small head size starting before age 2 years.
• Tongue protrusion
• Light hair colouring, light skinning as well as light iris eyes.
• Repetitive or odd behavior such as flapping the hands along with uplifted arms while walking
• Cross-eyed, also related strabismus
• Curves spine, medically known as scoliosis.

What is the cause of Angelman syndrome?

Angelman syndrome is caused by a change in a gene, referred to as genetic change. It is mainly caused by changes in a gene on chromosome 15 known as the ubiquitin protein ligase E3A (UBE3A) gene.

How is Angelman syndrome diagnosed?

Angelman syndrome is suspected in case a child's development is delayed, and he or she displays the features of the syndrome.

A blood test can confirm the diagnosis. Some genetic tests will be performed from a blood sample. They test for:

• Any chromosomes or parts of chromosomes missing
• Alterations in the mother's or father's ube3a gene that they might have passed on
• Changes in the child's ube3a gene which could cause it to not work properly

It is important to determine the genetic change that causes the condition in each child with Angelman syndrome. This will determine your chances of having another child with Angelman syndrome.

The majority of children are diagnosed between 9 months and 6 years old, as physical and behavioral symptoms start to become obvious.

If your child is diagnosed with Angelman syndrome, you will be able to talk to a genetic doctor about what support they might need.

How is Angelman syndrome treated?

There is no specific treatment for Angelman syndrome. Instead, the health care team directs the treatment to the specific symptoms each child with Angelman syndrome has. Early diagnosis and treatment can make a big difference in helping a child with Angelman syndrome live with the best quality of life.

Treatment may involve the coordination of a team of specialists including:

• Pediatricians.
• Neurologists.
• Occupational and physical therapists.
• Speech-language pathologists.
• Behavioral therapists.
• Gastroenterologists.
• Nutritionists.

Interventions and treatments that manage symptoms may include:

• Anticonvulsant drugs to manage seizures in the individual
• Physical therapy to assist the person to maintain good posture, to help improve balance and walk properly and to avoid stiffness in the joints.
• Orthotic use, such as an ankle-foot orthosis, to help in walking
• Behavior therapy and following strict bed routines to improve sleep disorders
• Behavior modification therapy to alter undesired behavior.

Communication aids and therapies, including sign language and gesturing, and special computers for communication for enhanced learning and social interaction.

Are there any cures that exist for Angelman syndrome?

There exists no cure for Angelman syndrome. The treatment used is managing the symptoms.

Can Angelman syndrome be prevented?

Unfortunately, in most cases, it is not possible to prevent Angelman syndrome because it results from spontaneous (random) genetic abnormalities while the fetus is developing in the uterus. In most cases, this happens without a known cause.

A small percentage of people with Angelman syndrome inherit the condition. If you plan on having a biological child, talk with your healthcare provider about genetic testing to understand your risk of having a child with a genetic condition or a condition that can be caused by an inherited genetic mutation.

What can I expect if my child has Angelman syndrome?

It is crucial to note that no two children with Angelman syndrome are affected in the same way. All people with Angelman syndrome will have some form of developmental delay, speech impairment and movement (motor) impairment; however, there are many variations in the severity of these symptoms.

It is impossible to predict, with certainty, how the child will be affected. It is the best way one can prepare and help in getting the best care in talking to healthcare providers who specialize in the treatment of Angelman syndrome.

What is the prognosis (outlook) of Angelman syndrome?

People with Angelman syndrome have almost normal life spans. Adults are generally unable to live on their own but can learn very simple household tasks and live in group homes. Some can even be able to have jobs directly supervised.

How can I take care of my child with Angelman syndrome?

Help care for your child with Angelman syndrome by following instructions from their healthcare providers:

• Giving any medications as prescribed.
• Getting developmental assessments and physical, occupational and speech therapies.
• Going to all follow-up medical visits.
• Children with Angelman syndrome will have problems with movement and behavior and will likely need help with daily tasks throughout their lives.

Your child's healthcare team can answer questions and offer support. They also might be able to recommend a local or online support group.

When should my child see their healthcare provider?

If your child is diagnosed with Angelman syndrome, he or she will be required to visit their medical team frequently to assess that the treatment and therapies implemented are effective.

What questions should I ask my doctor about Angelman syndrome?

If your child has Angelman syndrome, it would be advisable for you to ask your health care providers the following questions:

• Which treatments will help effectively manage my child's symptoms?
• How can my child improve his or her means of communication?
• Should I have genetic testing or genetic counseling if I plan on having more children?
• How can I best plan for the support my child will need in the future?
• Is there a support group nearby for families like ours?

Why Tender Palm Super-Speciality Hospital for Angelman syndrome?

Tender Palm Hospital, owned by doctors, is renowned for attracting the most experienced professional in the country. With the finest neurologist and neurosurgeons specialized in Angelman syndrome. Tender Palm stands out as the premier Neurology hospital in Lucknow, India. Boasting cutting-edge infrastructure and advanced technology, Tender Palm ensures top-notch medical care for its patients.

To seek an expert consultation for any Neurology condition

Call us at +91-9076972161
Email at care@tenderpalm.com

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