Angelman Syndrome

The Smiling Face Behind Angelman Syndrome

Understanding a Rare Neurogenetic Disorder

Have you ever seen a child who seems to be smiling all the time, even when they’re upset or crying? This constant smile can be more than just a charming expression—it may be a sign of Angelman Syndrome, a rare neurogenetic disorder.

What Is Angelman Syndrome?

Angelman Syndrome was first described in 1965 by British physician Dr. Harry Angelman, who identified three unique cases he referred to as “Puppet Children.” These children shared characteristics such as:

  • Doll-like facial features

  • Intellectual disabilities

  • Frequent episodes of laughter

  • Seizures

  • A distinct, unsteady gait

Because of the frequent smiling and laughter, it’s sometimes affectionately called the “Happy Puppet” or “Laughing Angel” syndrome.

This condition affects approximately 1 in 30,000 live births, making it a rare but significant diagnosis for affected families and healthcare providers.

What Causes Angelman Syndrome?

Angelman Syndrome is not inherited in most cases—it’s caused by a spontaneous genetic mutation. Specifically, it results from a deletion or abnormality on the maternal copy of chromosome 15 (region q11–q13) involving the UBE3A gene, which plays a vital role in brain development.

If this genetic change occurs on the paternal chromosome instead, it typically results in Prader-Willi Syndrome, a completely different condition. The distinction lies in the parental origin of the genetic material and the specific region of chromosome 15 affected.

How Is It Diagnosed?

While children with Angelman Syndrome may appear normal at birth, symptoms usually become noticeable between the ages of 3 to 7 years. Diagnosis involves:

  • Observation of clinical features and behavior

  • Chromosomal analysis

  • DNA testing

  • Specific testing for the UBE3A gene

Early diagnosis is crucial for accessing the right support and therapies.

Common Signs and Symptoms

Developmental and Behavioral:

  • Delayed speech and language development

  • Poor eye contact and communication skills

  • Moderate to severe intellectual disabilities

  • Frequent, unexplained laughter or smiling

  • Hand-flapping or other repetitive behaviors

  • Difficulty with balance and coordination

  • Seizures (in about 80% of cases), linked to GABA neurotransmitter deficiency

Physical Features:

  • Normal birth weight and appearance

  • Feeding difficulties and frequent vomiting in infancy

  • Microcephaly (small head size) after age 2

  • Wide, constantly smiling mouth

  • Drooling and tongue protrusion

  • Crossed eyes (strabismus)

  • Protruding teeth and underdeveloped midface

  • Heat sensitivity

  • Facial features may become more distinct in adolescence

Motor Function:

  • Jerky or uncoordinated body movements

  • Walking on toes or delayed walking milestones

  • In some cases, involuntary movements may prevent crawling or walking altogether

Treatment and Support

While there is no cure for Angelman Syndrome, early intervention and comprehensive care can significantly improve quality of life. Treatment typically includes:

Medical Management:

  • Anti-seizure medications

  • Nutritional support and vitamins

  • Specialized diets to manage weight and hyperactivity

Rehabilitation Therapies:

  • Behavior Modification Programs

  • Speech and Language Therapy

  • Sensory Integration Therapy

  • Occupational and Physical Therapy

Support at Cedra Center – Ajman

At Cedra Center for Special Needs in Ajman, we are proud to offer holistic, multidisciplinary care for children with Angelman Syndrome. Our services include:

  • Speech and Language Therapy

  • Behavioral and Psychological Support

  • Skills Development Programs

  • Advanced Sensory Room Therapy

Our team of specialists is dedicated to helping each child reach their fullest potential through personalized, compassionate care.