Attacking Angelman Syndrome

Your one-year-old daughter has a happy disposition despite having certain setbacks. She can’t sit up on her own. She can’t speak. She has difficulty with sleep. She could have Angelman syndrome.

Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities. A person with the condition will have a near normal life expectancy, but they will need support throughout their life.

Angelman syndrome usually happens when the gene UBE3A is either missing or not functioning well. A gene is a single unit of genetic material (DNA) that acts as an instruction for the way an individual is made and develops. Usually, a child gets two copies of the gene, one from each parent, but only the gene from the mother is active. In most cases, Angelman syndrome is caused by the child not getting a copy of the UBE3A from the mother, or the gene isn’t working. This means there is no active copy of the gene in the child’s brain. In a small number of cases, Angelman syndrome occurs when a child gets two inactive copies of the gene from their father, rather than one from each parent.

This phenomenon is called Uniparental Disomy UPD. This means the child can have two paternal chromosome 15 and no maternal chromosome. This means your child is missing a working copy of gene UBE3A. Individuals who have Angelman syndrome due to the deletion of the gene from the maternal chromosome also other genetic material deleted above and below the gene. So they tend to be more severely affected, e.g. with seizures, mobility/feeding issues. Your child could have no other genetic material that is missing so she has no other medical issues.

There are several unique behaviors associated with Angelman syndrome, although a child with the condition may not have all of these behaviors. Some of them include frequent laughter and smiling, often with little stimulus, being easily excitable, often flapping the hands, being restless (hyperactive), and having a short attention span.

Most children with Angelman syndrome are diagnosed between the ages of nine months to six years, when physical and behavioral symptoms become apparent. In most cases of Angelman syndrome, the child’s parents do not have the condition and the genetic difference responsible for the syndrome happens by chance around the time of conception.

A child with the genetic condition will begin to show signs of delayed development at around six to 12 months of age, such as being unable to sit unsupported or make babbling noises. Later they may not speak at all or may only be able to say a few words. But most children with Angelman syndrome will be able to communicate using gestures, signs or other systems.

A blood test is used to arrive at diagnosis as well as several genetic tests done on the blood sample. These tests look for any chromosomes or pieces of chromosomes that are missing. They also look for changes in the mother’s or father’s UBE3A gene. In addition, they look for changes in the child’s UBE3A gene that would stop it from working.

While there is no cure for Angelman syndrome, treatments do exist. Medications can control epilepsy and hyperactivity. Therapy can encourage joint mobility and prevent joint stiffening. Occupational therapy, speech therapy, hydrotherapy and music therapy are also used.