Angelman syndrome is a genetic disorder that impacts balance, speech, and intellectual growth, sometimes leading to seizures. Those with this condition display a happy and lively demeanor, laughing and smiling often. Developmental setbacks typically occur between six to twelve months of age, while seizures arise between the ages of two and three. Although individuals with Angelman syndrome can lead a relatively normal life, there is currently no cure. Treatment focuses on managing developmental, sleep, and medical issues.

Causes
Angelman syndrome is a genetic condition that results from a chromosomal or mutation abnormality that disrupts the normal function of the UBE3A gene. Individuals without this condition inherit this gene from both parents, and both copies are active in certain body parts. In the brain, however, only the maternal copy is active, while the paternal copy is typically inactive. This is important for normal brain development, including learning, movement, and speech. But in people with Angelman syndrome, there is an issue with maternal UBE3A gene copy. Alternatively, in some people, this copy is lost in gene mutation. Hence, in people with Angelman syndrome, the gene is inactive in some brain regions. Primarily, genetic differences arise during fetal development. In approximately ten to fifteen percent of people suffering from Angelman syndrome, a problem with a different chromosome or gene may trigger the condition.

Symptoms
In people with Angelman syndrome, the symptoms usually start between the initial six to twelve months. However, the other signs become apparent in early childhood. Some common symptoms include:

Scoliosis
Difficulty sleeping
Small head size
Fascination with water
Developmental delays
Hyperactivity
Seizures
A short attention span
Excitable and happy demeanor
Major speech impairment
Intellectual disability
Heavy and rounded facial features with thickened skin

People with Angelman syndrome often display unique facial characteristics, such as a noticeable chin, eyes set deeply, a wide mouth with a protruding tongue, teeth spaced widely, and a flattened back of the head.

Diagnosis
The primary method for diagnosing Angelman syndrome is vis clinical symptom observation that aligns with the disorder. Among the characteristics that a clinician will examine for are:

Head or facial abnormalities
Frequent laughing or smiling with a happy disposition
Delayed or missed developmental milestones, particularly speech absence
Motor dysfunction
History of seizures and abnormal EEG results

Though a genetic test can confirm the UBE3A mutation or the chromosome 15 inactivity or deletion, one in five people with this condition have no sign of a genetic cause. Hence, further investigations are necessary to differentiate Angelman syndrome from other conditions with similar characteristics. These include cerebral palsy, autism, or Prader-Willi syndrome, wherein the chromosome 15 deletion is hereditary via the father.

Treatments
Unfortunately, there is no definite treatment for this condition. Hence, medical experts usually focus on symptom management. Early diagnosis and immediate treatment measures can help a child with Angelman syndrome maintain their quality of life. Treatments usually demand coordinated efforts from a team of specialists, such as:

Behavioral therapists
Speech-language pathologists
Neurologists
Pediatricians
Nutritionists
Occupational and physical therapists
Gastroenterologists

Symptom management usually involves treatments and interventions, such as:
Anti-seizure treatments for patients experiencing seizures
Using foot or ankle braces to help with walking
Physical therapies to improve balance, posture, and walking issues and avoid joint stiffness
Behavior modification therapy to avoid unwanted behaviors
Communication therapies and aids, such as gesturing, sign language, and using special computer Communication devices to improve communication.