What Is Angelman Syndrome?

Angelman syndrome is a genetic disorder that affects the nervous system. It causes delayed development, intellectual disability, speech impairment, and problems with movement and balance. Recurrent seizures and microephaly are also common. The condition is noticeable by 6-12months and becomes more recognisable in early childhood.

 

What Are The Common Signs And Symptoms Of Angelman Syndrome?

Children with Angelman syndrome tend to be happy, and excitable individuals who often have difficulty sleeping. As they age they become less excitable, but still have intellectual disability, speech impairment, and seizures. Verbal speech may be completely absent in adult patients, or they might only be able to say a few words. However, most childen with Angelman syndrome can still communicate using non-verbal methods for instance gestures or signs. Children with Angelman syndrome tend to find walking and moving very difficult. They may also suffer from balance and coordination issues, tremors, jerky movements in their arms and stiffness in their legs.

 

Other Common Features Of Angolan Syndrome

•         Skin, hair and eyes that are paler than other family members.
•         Tendency to stick the tongue out.
•         Scoliosis- A sideways curvature of the spine.
•         Strabismus – One eye is turned in a direction different from the other.
•         Walking with their arms in the air
•         Difficulty feeding as babies, as they struggle coordinating sucking and swallowing.

  

What Causes Angelman Syndrome?

Angelman syndrome is caused by the loss of function of the UBE3A gene. This gene is turned on in most tissue in the body, but only the maternal copy is active in the brain and spinal cord. In about 70 persent of cases, the maternal chromosome 15 containing UBE3A is deleted. In very rare cases (10-20 percent, Angelman syndrome is caused by a variant in the maternal copy of UBE3A. The cause of Angelaman syndrome remains unknown in 10-15 percent of affected individuals. Loss of the OCA2 gene is associated with paler hair and skin in some people with Angelman syndrome.

 

Is Angelman Syndrome On The Autism Spectrum?

Autism spectrum disorder and Angelman syndrome share overlapping characteristics, such as developmental delay, speech impairment and can be difficult to tell appart during the early stages of childhood development. However, Angelman syndrome is not part of the autism spectrum, they are two distinct conditions. Given the complexity and difficulty in diagnosing these conditions, a thorough evaluation by healthcare professionals is needed.

 

How Common Is Angelman Syndrome?

Approximately 1 in 15 000 people can be affected by this syndrome, making it a very rare disease. However, prevalence may vary across different populations and regions. The United Kingdom (UK), specific prevalence rates for Angelman syndrome may not be readily available.

 

Symptom Management May Include The Following Interventions And Treatment:

Anticonvulsants for those who experience seizures. Medication to address anxiety or hyperactivity may also be prescribed in some cases. Physical therapy to help with balance and walking and to prevent joint stiffness. Physical therapy exercises can also help with posture. Behavioural therapy involves reinforcing positive behaviours.  Behavioural therapy can also help individuals with communication and social skills.

 

Who Is Affected By Angelman Syndrome?

Angelman syndrome is a rare condition that can develop in any fetes. Majority of cases is a result of spontaneous gene mutations, meaning the condition is not inhered from the biological parents to the child. Angelman syndrome can affect both males and females equally.

 

What Tests Are Used To Diagnose Angelman Syndrome?

Most cases are diagnosed after birth, but often in some cases healthcare providers identify the condition prenatally (before birth).

 

Diagnosis of Angelman Syndrome Before Birth

Healthcare providers can identify Angelaman syndrome before your baby is born, with a prenatal ultrasound. This method seeks signs of foetal growth impairments.

Noninvasisve prenatal screening (NIPS) is accurate in the diagnosis of Angelman syndrome. NIPS is a method that the determine the risk of chromosomal abnormalities. The test analyse small fragments of DNA material that are circulating in the mother’s bloodstream during pregnancy.

 

Diagnosis of Angelman Syndrome After Birth

Specialised blood tests are used to confirm the diagnosis of Angelman syndrome. Laboratory scientist perform genetic tests that look for chromosomes or pieces of chromosomes missing, any changes in the child’s UBE3A gene, or changes in the parents UBE3A that may have been inherited.

 

Other Common Tests That Help Diagnosis Angelman Syndrome

Diagnosing Angelman Syndrome often involves a multifaceted approach, with various tests playing a crucial role in confirming the condition.

 

Electroencephalogram

An EEG detects changes in the brain activity by using small metal discs (electrodes) that is attached to the scalp. The electrodes are attached to a machine that provide the healthcare provider with information about your child’s brain activity. It can show characteristic brain activity patterns of Angelman syndrome.

 

Sleep Study

research on sleep indicated that people with Angelman syndrome often experience difficulty with sleeping. The sleep study test is used to detect any difference in sleeping patterns which can be associated with Angelman syndrome. Technicians monitor your sleep patterns, brain activity, eye movements, heart rate and other parameters.