Angelman Syndrome – Symptoms and Causes
Overview
Angelman syndrome results from a genetic change that affects development and function. This condition causes delays in development, speech problems, balance issues, intellectual disabilities, and sometimes seizures.
People with Angelman syndrome often display frequent smiling and laughter. They typically have happy dispositions and become excited easily.
The first signs usually appear between 6-12 months when developmental delays become noticeable. Seizures may begin developing when children are 2-3 years old.
While individuals with this condition generally have a normal life expectancy, Angelman syndrome has no cure. Treatment focuses on managing specific aspects of the condition:
- Medical issues
- Sleep disorders
- Developmental challenges
Healthcare providers work with families to create comprehensive management plans tailored to each person’s specific needs.
Signs and Symptoms
Children with Angelman syndrome show a range of notable symptoms that typically become apparent during early development. Most babies appear normal at birth, with symptoms emerging gradually during the first year of life.
Common signs include developmental delays such as not crawling or babbling by 6-12 months of age.
Children often have limited or no speech and experience difficulties with movement, balance, and walking. Despite these challenges, affected children frequently smile, laugh, and appear happy.
Other common symptoms include:
- Intellectual disability
- Sleep difficulties
- Feeding problems
- Easily excited behavior
- Seizures (typically starting between ages 2-3)
- Jerky or stiff movements
- Smaller head size by age 2
Physical traits may include light-colored hair, skin and eyes. Children might also display distinctive behaviors like hand flapping or walking with uplifted arms. Some develop additional conditions such as:
- Strabismus (crossed eyes)
- Scoliosis (curved spine)
- Tongue thrusting
When to Contact a Healthcare Provider
If you notice your child isn’t reaching developmental milestones like crawling or babbling between 6 and 12 months, schedule an appointment with your child’s doctor.
Early diagnosis allows for proper management of symptoms and appropriate support services. Don’t hesitate to seek medical advice if you observe any symptoms associated with Angelman syndrome, as early intervention can significantly improve outcomes.
Reasons for Angelman Syndrome
Genetic Alteration
Angelman syndrome results from specific genetic changes that affect brain development. The main cause involves alterations in a gene called ubiquitin protein ligase E3A (UBE3A), which is located on chromosome 15.
Everyone inherits two copies of genes—one from their mother (maternal copy) and one from their father (paternal copy). While most genes use information from both copies, the UBE3A gene works differently. In brain cells, only the maternal copy is active.
Angelman syndrome typically occurs when:
- The maternal copy of the UBE3A gene is missing
- The maternal copy is damaged
- The maternal copy cannot function properly
Without a working maternal copy of this gene, the brain doesn’t receive important instructions needed for normal development. This affects how the brain controls speech, movement, and other functions.
In rare cases, a child may inherit two copies of the paternal gene instead of receiving one copy from each parent.
This situation, called paternal uniparental disomy, can also cause Angelman syndrome because the brain lacks the active maternal copy of UBE3A.
Risk Factors
Angelman syndrome affects a small number of people. Scientists often can’t explain why genetic changes happen that lead to this condition. Most individuals with this syndrome have no family history of it.
In some cases, parents can pass Angelman syndrome to their children. If someone in your family has this condition, your baby might have a higher chance of developing it too.
Complications
Angelman syndrome can lead to several challenges for affected individuals.
Infants may struggle with feeding due to difficulties with sucking and swallowing. Healthcare providers might recommend special high-calorie formulas to ensure proper weight gain.
Children with this condition often display hyperactive behaviors. They typically move rapidly between activities, have limited attention spans, and frequently put objects or their hands in their mouths.
This hyperactivity tends to decrease as the child grows older, and medication is rarely necessary.
Sleep disturbances are common in people with Angelman syndrome. They may require less sleep than others and experience irregular sleep-wake cycles. These issues sometimes improve with age, and can be managed through behavioral therapy or medication in some cases.
Physical complications include scoliosis (spine curvature), which may develop over time. Additionally, obesity becomes more prevalent in older children with the condition.
These complications vary in severity from person to person and may require different management approaches.
Prevention
Parents with Angelman syndrome can sometimes pass this condition to their children through genetic changes. If Angelman syndrome runs in your family, or if your child has been diagnosed with the condition, it’s important to seek medical guidance.
