Understanding Angelman Syndrome

Our Sunday focus on rare diseases casts a spotlight on Angelman Syndrome. The condition is named after Dr. Harry Angelman, an English physician who discovered the syndrome, Angelman syndrome (AS) is a rare neuro-genetic disorder, often misdiagnosed as cerebral palsy or autism due to lack of awareness.

A rare genetic disorder, Angelman Syndrome (AS) causes developmental disabilities and nerve-related symptoms. It mainly affects the nervous system. In India, the incidence of AS is less than one million cases per year.

Signs of Angelman Syndrome

Some typical features are delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. Many children affected with AS have recurrent seizures (epilepsy) and a small head size. The delayed development becomes noticeable by the age of 6 to 12 months, while other typical signs and symptoms are evident in early childhood.

Also known as Happy Puppet syndrome

Children with AS usually appear happy and excitable. They frequently smile and laugh. Hyperactivity, short attention span, and a fascination with water are common. Most affected children have difficulty sleeping.

“People living with the syndrome require 24/7 life-long care, intensive therapy and close medical supervision”, writes Anubhuti Madan Singh, parent to a child with AS in her article in Indian Link magazine. Anubhuti’s daughter was diagnosed when she was less than a year old. “My daughter, Arika, is severely delayed in her motor skills. At 15 months of age, she still does not respond to her name or sit unsupported. She only weighs 6.5kg and has no speech”.

With age, people with AS become less excitable and start sleeping better. However, they continue to have intellectual disability, severe speech impairment, and seizures throughout their lives.

Treatment & Therapies

Therapies for AS syndrome are symptomatic and supportive. There are many clinical trials underway but no genetic therapy or curative medication available is as of now.

• Anti-seizure medications are recommended for those prone to seizures. Sleep disorders may need behavioural therapy. At times, sedating medications can help.
• Ankle braces or supports and physical therapy can help affected people walk. Scoliosis can develop in some cases and need braces or surgical correction.
• Early intervention plays a big role in ensuring that child with AS achieve their potential. Most children progress with physical, speech and occupational therapy. Behavioural modification therapy can help discourage unwanted behaviours.
• Use of special communication devices such as computer picture-based systems can help with improved learning and social communication.
• Genetic counselling is recommended for families of people with AS.

In India, families seeking support can reach out to Angelman Foundation. This was started by Pooja Joshi Bhadrige after her son was diagnosed with AS in 2014 at the age of nine months.

“Unlike other children his age, at 4 months, he was not able to keep his head upright. These were the first signs which alarmed us,” said Pooja to Hindustan Times. Her sons as diagnosed by by Dr Anaita Hegde, a Mumbai-based neurologist. “The condition is also called the ‘happy puppet’ syndrome because these children have big mouths and laugh a lot, but their movements are imbalanced. Other features include seizures and delayed speech,” said Dr Hegde.

Pooja’s website aims to raise awareness about the condition. You can contact the group at 91 8779790744 or leave a message on their website.

Read More:

• Angelman Syndrome Foundation