Angelman Syndrome
Angelman syndrome is a rare, complex neuro-developmental condition that primarily affects your nervous system. It’s caused by issues with a specific gene called UBE3A.
Causes of Angelman Syndrome
Many of the characteristic symptoms of Angelman syndrome result from the loss of function of a gene called UBE3A.
These changes occur early in fetal development before a baby is born.
A genetic mutation is a change in a sequence of your DNA.
Your DNA sequence gives your cells the information they need to perform their functions.
If part of your DNA sequence isn’t complete or is damaged, you might experience symptoms of a genetic condition.
People normally inherit one copy of the UBE3A gene from each biological parent.
Both copies of this gene are
turned on(active) in many of your body’s tissues.But in certain areas of your brain, only the copy inherited from your birthing parent (maternal copy) is active.
Symptoms of Angelman Syndrome
Delayed development.
Learning disabilities.
Speech development issues, ranging from not speaking at all (being nonverbal) to only using a few words.
Walking difficulties, such as clumsiness and a wide-based walk (gait).
Ataxia (impaired balance or coordination).
Seizures.
A short and broad skull (brachycephaly).
Abnormally large tongue (macroglossia) that may stick out of their mouth.
Abnormally small head (microcephaly).
A big lower jaw (mandibular prognathia).
Wide mouth.
Widely spaced teeth
Diagnosis of Angelman Syndrome
In some cases, healthcare providers can identify Angelman syndrome before your baby is born through a prenatal ultrasound.
They look for signs of fetal growth issues.
Current studies have shown that noninvasive prenatal screening (NIPS) is highly accurate in the diagnosis of Angelman syndrome pre-birth.
NIPS is a method of determining the risk that your unborn baby will be born with certain genetic abnormalities.
This testing analyzes small fragments of DNA that are circulating in a pregnant person’s blood.
Electroencephalogram (EEG): An EEG measures and records your child’s brain’s electrical signals. During an EEG, a technician places small metal disks (electrodes) on your child’s scalp. The electrodes attach to a machine that gives their healthcare provider information about your child’s brain’s activity. This test can show a characteristic brain activity pattern of Angelman syndrome and any epileptic activity, which can help in the diagnosis.
Sleep study (polysomnography): This test can diagnose any sleep disorders, which are common in children with Angelman syndrome
Treatment of Angelman Syndrome
Anti-seizure medications (anticonvulsants) for those who experience seizures.
Physical therapy to help with posture, balance and walking issues and to prevent joint stiffness.
Use of ankle or foot braces to aid walking.
Behavioral therapy and adherence to strict bedtime routines to help sleep disorders.
Behavioral modification therapy to help change unwanted behaviors.
Communication aids and therapies, such as sign language, gesturing and the use of special computer communication devices for improved learning and social communication.