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.

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