Angelman syndrome is a rare genetic abnormality that affects the nervous system. This disease is marked by delayed development, intellectual disability, severe speech problems, and ataxia, which causes trouble moving and staying balanced. Most affected children also experience frequent seizures and a small head size, called microcephaly. By the time a baby is 6 to 12 months old, it is clear that they are not developing as quickly as other kids.

This article explores the critical aspects of Angelman syndrome, including its symptoms, possible causes, and available treatment options.

Symptoms of Angelman syndrome
The symptoms of Angelman syndrome can be diverse and may include:

• Developmental delays
  Children with Angelman Syndrome often experience delays in attaining developmental milestones, such as sitting, crawling, and walking.
• Intellectual disability
  Individuals with this syndrome may have intellectual disabilities ranging from mild to severe.
• Speech impairment
  Many people affected by the condition have limited or no speech abilities and may rely on nonverbal communication.
• Seizures
  Seizures are common in affected individuals and may require professional management, hospital staff, or a doctor to intervene to manage the symptom.
• Happy demeanor
  Despite the challenges, individuals with Angelman Syndrome are often characterized by a happy and excitable demeanor, with frequent smiling and laughter.
• Movement and balance issues
  Motor coordination and balance problems, such as difficulty walking or ataxia, are commonly observed.

Possible causes of Angelman syndrome
A genetic abnormality that affects the UBE3A gene on chromosome 15 is the primary cause of Angelman syndrome. This gene can be affected in different ways, leading to the various genetic subtypes of the condition. In most cases, the genetic mutation occurs spontaneously and is not inherited from the parents.

Diagnosis and genetic testing
Detecting the condition can be complex due to its variable symptoms and the need for specialized DNA analysis. The diagnosis is usually made based on clinical features, developmental evaluations, and genetic testing to detect abnormalities in the UBE3A gene.

Treatment and management options
There is no cure for Angelman Syndrome, and treatments are focused on managing symptoms and supporting the individual’s overall well-being. Healthcare approaches may include:

• Early intervention
  Early intervention programs can help address developmental delays and provide support for communication and motor skills.
• Speech and language therapy
  Speech therapy can assist affected individuals in developing speaking skills and using alternative communication methods.
• Occupational therapy
  This therapy aims to improve fine motor skills and enhance independence in daily activities.
• Seizure management
  Seizures in Angelman Syndrome may require antiepileptic formulations and careful monitoring.
• Behavioral therapy
  Behavioral interventions can be beneficial in managing challenging behaviors and promoting social skills.
• Supportive care
  Ongoing monitoring and support from a team of healthcare professionals are essential in managing the complex needs of individuals with Angelman syndrome.

Angelman syndrome is a complicated genetic disorder that affects the nervous system, leading to various neurological challenges. Early diagnosis, early intervention, and a comprehensive treatment approach are crucial in supporting individuals with this disorder and improving their overall quality of life. Genetic testing plays a vital role in confirming the diagnosis and identifying the specific genetic subtype, allowing for personalized care and management strategies.