Angelman syndrome is a genetic disorder that affects the nervous system and child development. It is a condition caused by an alteration in the UBE3A gene, which is located on chromosome 15. This gene is important for brain function, and normally only the copy that is inherited from the mother is expressed. In Angelman syndrome, the maternal copy of the UBE3A gene is absent, damaged or inactive, resulting in a deficiency of the protein it encodes. This affects the neurological and cognitive development of people with this syndrome, explains Dr. Pamela Muñoz, pediatric neurologist at our clinic.

The symptoms of Angelman syndrome vary from person to person, but the following are usually manifested:

• Developmental delay, manifested by lack of crawling or babbling between 6 and 12 months of age.
• Intellectual disability, which involves difficulties with learning, memory and reasoning.
• Absent or limited speech, which causes people with Angelman syndrome to communicate primarily by gestures, sounds or alternative devices.
• Movement and balance problems, resulting in unsteady gait, jerky or stiff movements, and difficulty coordinating hands and fingers.
• Frequent smiling and laughing, reflecting a cheerful, enthusiastic and sociable personality.
• Seizures, which usually begin between 2 and 3 years of age and require medical treatment.
• Sleep problems, which may affect circadian rhythm, quality and duration of sleep.
• Other physical characteristics, such as a small, flat head at the back, a tongue protruding from the mouth, light-colored hair, skin and eyes, and a curvature of the spine (scoliosis).

How is Angelman syndrome diagnosed?

Diagnosis is based on clinical evaluation and genetic testing. The clinical evaluation consists of observing the signs and symptoms of Angelman syndrome, as well as the patient’s medical and family history. Genetic testing can confirm the alteration of the UBE3A gene, using techniques such as methylation analysis, fluorescence in situ hybridization (FISH) or sequencing analysis. Early diagnosis is important to initiate appropriate treatment and follow-up, as well as to provide genetic counseling to the family.

Remember:

Angelman syndrome is a challenging condition for people with the condition and their families, but also an opportunity to learn and grow. With the right support, people with Angelman syndrome can develop their abilities, express their emotions and participate in society.

Dr. Pamela Muñoz
Pediatric neurologist at Clínica Ricardo Palma