Angelman syndrome is a rare neurological disorder. It occurs when a gene called UBE3A is missing or defective. When this gene is faulty or absent, the nerve cells in the brain do not function properly and cause a range of physical and mental problems. If there is a history of this syndrome in the family, this disorder can be diagnosed in the early stages through tests performed on the newborn baby.
Emerging as a genetically transmitted condition, this syndrome may cause developmental delays, intellectual disability, speech disorders, and movement problems in the child. The disorder, which can be noticed during the baby's first 6-12 months, can manifest itself with symptoms such as learning difficulties, epileptic seizures, and balance problems. Although there is no specific treatment for this syndrome, a number of supportive practices can be implemented targeting the symptoms and signs. For prospective parents with a family history of such a disorder, the risks they carry can be determined through tests administered before having a child.
What Are the Symptoms of Angelman Syndrome?
While the symptoms that appear in Angelman syndrome can vary from person to person, some individuals may have more severe symptoms. The neurodevelopmental features of the syndrome are mostly seen together with severe developmental delays that appear in the first year of life. The common features observed in these children are intellectual disability, absence of speech or minimal speech, seizures, and a constantly smiling facial expression. 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 delay
- Feeding disorders
- Flattening at the back of the head and small head size
- Strabismus
- Curvature of the spine (scoliosis)
- Hand-clapping
- Frequent smiling and laughter
- Light coloring of hair, skin, and eyes
How is Angelman Syndrome Diagnosed?
Due to some common features that Angelman syndrome shares with other disorders, most individuals with the syndrome are misdiagnosed. As a result of late or misdiagnosis, these individuals cannot benefit from early intervention programs and may lose opportunities that would benefit their lives. The diagnosis of Angelman syndrome can be made based on the family medical history of the parents, clinical evaluation, and the observation of characteristic findings. Most cases can be confirmed with certain blood tests and examinations such as DNA methylation. As a result of the testing and diagnosis phases conducted by specialist physicians, treatment and support planning is initiated.
What is the Treatment for Angelman Syndrome?
There is no definitive cure for Angelman syndrome. Current treatment applications administered to patients are symptomatic treatment and certain supportive practices. Treatment includes special education, speech, language and skill acquisition therapy, and physical therapy. Patients with Angelman syndrome may experience problems related to 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 disorders, and self-harm. Behavioral therapy can help address and cope with these problems.
It is generally 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 speech development in the child and help determine which approaches will benefit him the most.
In addition to these, treatment applications can be listed as follows:
- Anti-seizure medications to ensure control of seizures
- Physical therapy to improve walking and movement disorders
- Communication and speech therapy to provide sign language and pictorial communication
- Behavioral therapy
- Certain medications and sleep training to manage sleep disorders
- Dietary changes and medications to help with gastrointestinal problems such as feeding difficulties and constipation