Angelman Syndrome

 #Angelman Syndrome

Angelman syndrome is a rare genetic disorder that impacts the nervous system, leading to severe physical and cognitive disabilities. Individuals with Angelman syndrome typically have a near-normal life expectancy but will require ongoing support throughout their lives.

#### Characteristics of Angelman Syndrome

Signs of Angelman syndrome usually appear between 6 and 12 months of age, with delays in developmental milestones such as sitting unsupported or babbling. As they grow, children with Angelman syndrome may experience significant speech delays or be non-verbal. However, many can communicate through gestures, sign language, or other communication aids.

Movement difficulties are also common, with affected children often struggling with balance and coordination (ataxia). They may exhibit tremors or jerky movements in their arms and have stiff legs.

Distinctive behaviors associated with Angelman syndrome may include:

- Frequent laughter and smiling with minimal external stimuli

- Excessive excitability, including hand-flapping

- Hyperactivity and restlessness

- Short attention span

- Difficulty sleeping and a need for less sleep than peers

- A fascination with water

Around age 2, some children may develop a smaller head size, which can appear flat at the back (microbrachycephaly). Seizures may also start around this age.

Additional features may include:

- Tongue protrusion

- Strabismus (crossed eyes)

- Paler skin, hair, and eyes compared to family members

- A wide mouth with widely spaced teeth

- Scoliosis (side-to-side curvature of the spine)

- Walking with arms raised

Infants with Angelman syndrome may struggle with feeding due to difficulties in coordinating sucking and swallowing and may require a feeding tube or treatment for reflux.

#### Causes of Angelman Syndrome

Angelman syndrome typically arises from a genetic change occurring by chance at conception. It is usually linked to the UBE3A gene, which can be either missing or malfunctioning. Normally, individuals have two copies of this gene, one from each parent, but only the copy from the mother is active in the brain.

Most cases occur when the child lacks a functional UBE3A gene from the mother or the gene is not functioning properly. In rare instances, the condition results from inheriting two nonfunctional copies of the UBE3A gene from the father. In some cases, the genetic cause remains unidentified.

#### Diagnosing Angelman Syndrome

Diagnosis is often suspected when a child shows developmental delays and exhibits characteristic features of Angelman syndrome. Confirmation is achieved through a blood test that examines genetic material for:

- Missing chromosomes or chromosome segments

- Changes in the UBE3A gene inherited from either parent

- Mutations in the child’s UBE3A gene

Understanding the specific genetic change can help assess the risk of recurrence in future pregnancies. Most diagnoses occur between 9 months and 6 years of age, when symptoms become more noticeable. A genetic counselor can provide guidance on the necessary support and resources.

#### Managing Angelman Syndrome

Management of Angelman syndrome may include:

- **Anti-epileptic medication** to control seizures

- **Physiotherapy** to improve posture, balance, and walking, and to prevent joint stiffness

- **Communication therapy** to develop non-verbal communication skills, using methods such as sign language, visual aids, or tablet applications

- **Behavioral therapy** to address hyperactivity and short attention spans

Seizures often improve with age, though they may recur in adulthood. As individuals grow older, hyperactivity typically decreases, and sleep patterns may improve. While there is currently no cure, ongoing research and clinical trials are exploring potential treatments and symptom management for Angelman syndrome.