Angelman syndrome is a rare genetic disorder that leads to delayed development, speech impairments, and intellectual disabilities in children. The signs may develop during infancy and manifest even after the child becomes an adult. A mutation in a gene known as UBE3A is the primary reason behind this condition. Although a complicated neurodevelopmental disorder, Angelman syndrome can be managed with treatment and care. Read on to learn about its signs, causes, diagnosis, and management options.

Symptoms
The common signs and symptoms of this syndrome include the following:

• Intellectual and learning disability
• Walking difficulties
• Delay in development that is noticeable between six and twelve months of age
• Limited or no speech
• Seizures
• Ataxia or issues with balance and movement

These signs may vary from person to person, depending on their age.

Children with Angelman syndrome also display unusual behavior. A few behavioral signs in children include the following:

• Frequent laughing and smiling
• Excitable and happy for no apparent reason
• A fascination with water
• Frequent hand-flapping movements and motions
• A short attention span
• Hyperactivity
• Difficulty sleeping
• Less sleeping hours than other children of the same age

With age, symptoms like an excitable attitude tend to subside, and sleep patterns also improve.

Besides unusual behaviors, children with this condition may have unique facial features. The facial features associated with this syndrome include the following:

• A broad and short skull
• Widely spaced teeth
• A wide mouth
• A bigger lower jaw
• An abnormally small head
• An abnormally large tongue
• A prominent chin

Further, children may also suffer from developmental delays, such as:

• A delay in walking
• A delay in motor skills
• Inability to support one’s head
• Inability to stand
• Difficulty swallowing and sucking
• Difficulty balancing

Causes
This syndrome primarily occurs due to the loss of function or changes in the UBE3A gene. The changes happen before a baby is born, during the fetal development stage. In approximately 70 percent of the cases, parts of the UBE3A gene are usually missing or inactive. In nearly 11 percent of the cases, the disorder occurs because of structural changes in these genes. In about 10 to 15 percent of the cases, the cause cannot be determined.

Diagnosis
Angelman syndrome can be detected before or after birth. A prenatal diagnosis is made using an ultrasound scan, where the healthcare provider looks for fetal growth problems. Noninvasive Prenatal Screening (NIPS) is also used to identify this condition before birth.

Angelman syndrome can also be diagnosed after birth or when the child is between one and four years. Doctors diagnose the condition by noticing developmental delays or other signs in the child. The healthcare provider may also recommend a sleep study to diagnose sleep disorders and an electroencephalogram (EEG) to measure and record the electrical signals of the child’s brain.

Treatment options
Currently, there is no cure for Angelman syndrome. However, early treatments can help manage the condition’s signs and effects. Health experts recommend various treatments to control seizures and sleep and digestion problems. They also recommend various therapies, such as physical, social, behavioral, speech, and occupational therapy. Further, they may suggest using ankle braces to help with walking and hearing aids to help with communication.

Since Angelman syndrome is a complex disorder, the treatment needs to be coordinated by a specialist team consisting of pediatricians, nutritionists, gastroenterologists, behavioral therapists, speech-language pathologists, occupational therapists, physical therapists, and neurologists.

Caring for children with Angelman syndrome
The condition can take a toll not only on patients but also on their families. Parents are required to provide round-the-clock care and even hire caregivers if necessary. One can care for a child with Angelman syndrome by:

• Following the healthcare provider’s advice and recommendations strictly.
• Using the treatments suggested by the expert.
• Regularly taking the child for doctor’s visits.
• Accompanying the child for therapy sessions.
• Ensuring developmental evaluations and assessments are done on time as the physician recommends.
• Supporting the child with their daily tasks.
• Asking the healthcare provider about the best treatments and support groups.
• Improving communication with the doctor.

Angelman syndrome is a rare neuro-genetic disorder that leads to developmental delays. Around the world, it affects one in 15,000 newborns. Many signs and symptoms of this disorder mimic those of other conditions like autism and cerebral palsy, which is why it tends to get misdiagnosed. Parents should take their children for a check-up immediately if they notice the signs. As mentioned earlier, there is no cure for Angelman syndrome. Many organizations and support groups work toward helping families with children who have this syndrome.