Angelman Syndrome

A compound genetic disorder that adversely affects the central nervous system, Angelman Syndrome is chiefly characterized by microcephaly (small size of the head), frequent seizures, tardy development, general learning disability, and ataxia. Delayed development is the first symptom that becomes obvious by the time the newborn is about six months to one year old.

Image Source: en.wikipedia.org

Majority of the affected children tend to be hyperactive with short attention span, smile a lot, stay excited, and are preoccupied with water. They also have a cheerful disposition and flap their hands to express joy or delight. However, they find it difficult to fall asleep but can make do with fewer hours of sleep compared to children without the disorder.

Angelman Syndrome gets its name from Harry Angelman, a pediatrician who was the first to distinguish and differentiate the condition’s typical symptoms, many of which corresponds with those of autism or cerebral palsy.

Angelman Syndrome Incidence

The syndrome is prevalent in approximately 1 out of 12,000-20,000 individuals and both the sexes are equally susceptible.

Angelman Syndrome Symptoms

Symptoms like seizures, speech impairment, and mental retardation persist for a lifetime. Children that go on to develop the genetic condition seem perfectly normal after they’re born. Nevertheless, feeding issues become apparent within a month of the birth of the affected children. Moreover, their physical and mental development is delayed by about half a year to one year. The usual signs of Angelman Syndrome include:

• Hyperactivity
• Microcephaly
• Ataxia (balance and movement dysfunction)
• Sleep disorders
• Seizures (starts once the child is about 2-3 years old)
• Severe speech impairment
• Pleasing demeanor (typified by smiling, laughing, and hand-flapping)
• Symptoms of ‘attention deficit hyperactivity disorder’ (ADHD)
• Obsession with water
• Coarse facial features like bulging head, broad lips and tongue, malformed and small teeth that are widely placed
• Abnormally fair skin
• Fair-haired
• Scoliosis (anomalous lateral curvature of the spine)
• Flatness at the back of the head

Please note that while a few symptoms become prominent when the child is 1-2 years, some become evident during adolescence.

Angelman Syndrome Causes

The genetic condition is generally caused by a newly mutating gene instead of inheriting the gene from a parent. A dysfunctional gene known as ‘ubiquitin protein ligase E3A’ (UBE3A) found in chromosome 15 is behind the disorder. Children with Angelman syndrome usually inherit the gene from their mother.

Normally, we receive gene pairs from our parents, one set from our father and the other from mother. These pairs are referred to as paternal and maternal copies respectively. The cells in our bodies make use of information stored in both the copies for performing a wide range of functions.

Image Source: www.dermnetnz.org

Often, cells are unable to take advantage of the info stored in some copies of the genes as these are inactive or non-functional. As far as the UBE3A gene is concerned, parental imprinting ensures that only one copy stays active which by and large happens to be the maternal copy. If a section or component of this copy gets damaged or goes missing, then you’re at risk of developing the disorder. Sometimes, the syndrome could occur if one gets the pair of chromosome 15 copies from your father.

Angelman Syndrome Complications

• Hyperactivity: Affected people find it difficult to focus on any specific activity for a reasonable length of time. Inability to concentrate on a particular activity makes them shift from one task to another without actually attending to or completing any one. They often cannot understand simple tasks or how to play with a particular toy. They also tend to put their hands inside their mouth while playing or whenever they’re engaged in a particular task.
• Gluttonous: Older children and adolescents having Angelman Syndrome usually have huge appetites which tend to make them overweight.
• Scoliosis: Patients could find their spine to be laterally curved when they attain adulthood.
• Sleeping problems: Those suffering from this syndrome have difficulty sleeping but at the same time can manage with much less sleep compared to those who do not suffer from the disorder.
• Feeding problems: Babies and infants who are vulnerable to the condition may have trouble swallowing or sucking which could hinder their growth and development.

Angelman Syndrome Risk Factors

Health science specialists and medical experts are in the dark about the genetic transmutations that set off the disorder. Majority of those diagnosed with the syndrome never had a forefather or someone from their previous generations who had the condition.

However, a baby whose predecessor or predecessors had the disease is highly susceptible to the disorder.

Angelman Syndrome Diagnosis

The problem can be identified by observing the symptoms. Epilepsy history can be established using atypical EEG tracing. Inactivity of chromosome 15 can be detected by aCGH or by BACs-on-Beads technology.

Angelman Syndrome Treatment and Prevention

• Angelman Syndrome cannot be cured but numerous supportive treatment options including:

1. Bracings
2. Physical Therapy
3. Anti-seizure medications

• People are having this syndrome age the intensity of some symptoms ebbs down considerably. For instance, they can stay calm and sleep for longer periods.
• Anticonvulsant medications can help deal with and manage seizures.
• Melatonin can help monitor the anomalous sleep-wake patterns and enable patients to sleep for longer hours.
• Behavioral therapy, occupational therapy, and communication therapy could go a long way in enabling the affected persons to lead a nearly normal life and utilize their innate potential.

Nevertheless, many of the symptoms decrease or reduce over the years. Timely diagnosis and proper treatment could help boost quality of living.

When to Visit A Doctor?

Fix an appointment with the doctor or pediatrician the moment you notice one or more of the symptoms above in your child. Doctors should take due care when they examine the patient as there is a high probability of misdiagnosing the neuro-genetic syndrome as many of its symptoms overlap with those of genetic disorders involving the nervous system.