Angelman syndrome is a rare neurological disorder. It occurs when a gene called UBE3A is missing or faulty. When this gene is defective or missing, nerve cells in the brain do not function properly, causing a range of physical and mental problems. If the family has a medical history of the syndrome, it can be diagnosed early in life by testing the newborn baby.
This genetically inherited syndrome can cause developmental delays, mental retardation, speech disorders and movement problems. The disorder, which can be recognized in the first 6-12 months of the baby's life, can manifest itself with symptoms such as learning difficulties, epileptic seizures and balance problems. Although there is no specific treatment for this syndrome, some supportive applications can be made for symptoms and signs. Expectant mothers and fathers with a family history of this type of disorder can be tested before having a child to determine the risks they carry.
What are the Symptoms of Angelman Syndrome?
While the symptoms of Angelman syndrome may vary from person to person, some people may have more severe symptoms. The neurodevelopmental features of the syndrome are often accompanied by severe developmental delays that occur in the first year of life. Common features seen in these children are mental retardation, no or minimal speech, seizures and a permanently smiling face. In addition to these, the findings expected to be seen in children with Angelman syndrome are as follows:
- Epileptic seizures
- Sleep disorders
- Behavioral disorders
- Motor development retardation
- Nutritional disorders
- Flat back of the head and small head size
- Strabismus
- Curvature of the spine (scoliosis)
- Hand clapping
- Frequent smiling and laughter
- Light colored hair, skin and eyes
How is Angelman Syndrome Diagnosed?
Because Angelman syndrome shares some common features with other disorders, many people with the syndrome are misdiagnosed. As a result of late or misdiagnosis, they may not benefit from early intervention programs and may lose opportunities to benefit their lives. Angelman syndrome can be diagnosed based on family history of the disease, clinical evaluation and observation of characteristic signs. Most cases can be confirmed with certain blood tests and investigations, such as DNA methylation. After the testing and diagnostic phases are carried out by specialized doctors, treatment and support planning is initiated.
What is the treatment for Angelman Syndrome?
There is no definitive treatment for Angelman syndrome. Current treatment practices applied to patients are symptomatic treatment and some supportive practices. Treatment includes special education, speech, language and skill acquisition therapy and physical therapy. Patients with Angelman syndrome may have problems with walking and movement. Physiotherapy can identify problem areas and provide a specialized exercise plan that can improve, for example, motor skills, strength, posture and balance.
This syndrome can cause a range of behavioral problems in children, including hyperactivity, aggressive behavior, sleep disturbances and self-harm. Behavioral therapy can help address and cope with these problems.
It is often seen as a syndrome linked to a lack of speech development. Speech and language therapists should be involved from an early stage to assess the child's speech development and help determine which approaches will benefit them most.
In addition, treatment interventions can be listed as follows:
- Anti-seizure medication to help control seizures
- Physical therapy to improve gait and movement disorders
- Communication and speech therapy to enable sign language and pictorial communication
- Behavior therapy
- Some medications and sleep training to manage sleep disorders
- Dietary changes and medicines to help with gastrointestinal problems such as feeding difficulties and constipation