Rare Genetic Disorder Angelman Syndrome; Researchers Say it Can be Pass Through Defective Genes

Dr. Harry Angelman, an English Physician at Warrington General Hospital, was the first man to discover the Angelman syndrome, which was named after him in 1965. He first observed three unrelated children but showed similar symptoms of severe intellectual delay, stiff, jerky gait, lack of speech, seizures, motor disorders, and a happy demeanor.

This syndrome affects an estimated 1 in 12,000 to 20,000 people as it is a rare genetic disorder. People with this syndrome frequently smile and laugh, and have happy, excitable personalities. The developmental delays usually start about 6 and 12 months of age and are usually the first signs of Angelman syndrome. Seizures may begin between the ages of 2 and 3 years old.

People with Angelman syndrome tend to live close to a normal life span, but unfortunately, the disorder cannot be cured; thus, they will need support throughout their life. The treatment focuses on managing medical, sleep, and developmental issues, per Mayo Clinic.

A genetic condition that affects nearly the entire nervous system

Most babies with Angelman syndrome don't show symptoms or signs at birth. The first signs are developmental delays such as lack of crawling or babbling between 6 and 12 months. They may not speak at all or only be able to say a few words. However, most children who have this syndrome will be able to communicate using gestures, signs, or other systems.

The movements of a child with this syndrome will also be affected. They may have difficulty walking due to issues with balance and coordination. Their arms may tremble or make jerky movements, and their legs may be stiff. Most children with Angelman syndrome have microcephaly or small head and epilepsy or recurrent seizures, while adults who have this syndrome have facial features that are distinct and are often described as coarse.

According to Mayo Clinic, researchers say that 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.

Some of the characteristic features of Angelman syndrome are a result of the loss of function of a gene called UBE3A. It is caused when two parental copies of the gene are inherited, instead of one from each parent, per Medicine Net.

Read Also: What to Expect When Your Child Has Down Syndrome

Affected individuals continue to have intellectual disability

Difficulty coordinating sucking and swallowing may cause feeding issues in infants. A pediatrician may recommend a high-calorie formula to help the baby gain weight. Children with this syndrome often move quickly from one activity to another, have a short span, and keep their hands or toys in their mouths. Such hyperactivity often decreases with age, and medication isn't usually necessary.

They often have abnormal sleep-wake patterns and may require less sleep than most people. Sleep difficulties may improve with age. Medication and behavior therapy may help manage sleep disorders.

A blood test is used to confirm the diagnosis. Several genetic tests will be done on the blood sample, and these tests will look for any chromosomes or pieces of chromosomes that are missing, changes in the mother's or father's UBE3A gene that they may have passed on, and changes in the child's UBE3A gene that would stop it from working, per NHS UK.

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