Angelman Syndrome represents a complex medical mystery. Despite the features of happiness that characterize those suffering from it, they face great difficulties and challenges for themselves and their families. Follow this article with us as we will shed light on the most important causes of Angelman Syndrome and methods of diagnosis and treatment at Al Mousa Specialist Hospital. 

What is Angelman syndrome? 

It is one of the rare genetic disorders, and it mainly affects the patient’s nervous system. It is called “playful toy syndrome” because those affected often have a happy and enthusiastic personality, but they need lifelong care. 

What are the causes of Angelman syndrome?

Angelman syndrome is a complex genetic disorder that occurs as a result of a defect in the UBE3A gene located on chromosome 15, which is the gene responsible for producing a protein that has a vital role in the function of the nervous system, as it participates in regulating nerve cell communication and growth.

The failure of the copy of the UBE3A gene inherited from the mother to function properly is due to several of the following reasons::

• Chromosome deletion: In about 70% of cases, part of chromosome 15 containing the UBE3A gene is randomly lost during the formation of an egg or sperm.
• Mutation in the UBE3A gene: It occurs in about 11% of cases. The mutation occurs in the DNA sequence of the UBE3A gene inherited from the mother, which prevents the gene from producing a functional protein.
• Biparental inheritance: This is a rare condition in which the child inherits two copies of chromosome 15 from the father and does not inherit any copy from the mother. Because the father’s copy of the UBE3A gene is not expressed in the brain, the child suffers from a deficiency in the functional protein.
• Genetic imprinting defects: Any defects in the process that  determines which copy of the maternal or paternal gene will be expressed, resulting in the maternal copy of the UBE3A gene not being expressed.

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What are the symptoms of Angelman syndrome?

Symptoms of Angelman syndrome vary in severity from person to person, but in general they include the following:

• Delayed growth: The delay appears early in a child’s life, causing the child to be late in reaching normal developmental stages such as crawling, walking, and speaking.
• Intellectual disability: All people with Angelman syndrome suffer from intellectual disability to varying degrees.
• Speech difficulties, as most children with Angelman syndrome have difficulty speaking, and may not develop the ability to speak at all.
• Problems with movement and balance, leading to difficulty walking and movement. 
• Epileptic seizures, usually beginning in early childhood.
• Small head size.
• Trouble sleeping and waking up frequently during the night. 
• Laughing and smiling frequently. 
• Hyperactivity and difficulty concentrating.
• Repetitive movements such as flapping or waving the hands.
• Difficulty in breastfeeding and feeding in early childhood.
• Distinctive facial features. They may have a wide mouth, widely spaced teeth, light skin and hair color, and eyes that are sunken in the face.
• Spinal curvature or scoliosis, the severity of which varies in each case. 

How to diagnose Angelman syndrome

The diagnosis of Angelman Syndrome at Al Mousa Specialist Hospital depends on a set of clinical evaluations and genetic tests. The detailed steps for diagnosis include the following:

First: Clinical evaluation, which includes:

• Clinical evaluation, where the doctor begins to notice the characteristic symptoms of the syndrome in the child, such as intellectual disability, delayed growth, movement difficulties, seizures, and characteristic behaviors such as frequent laughter.
• Physical examination: A comprehensive physical examination of the child is performed, where the doctor focuses on distinctive physical features such as small head size.
• Medical history: The doctor collects a detailed medical history of the child, such as the history of pregnancy and childbirth, the history of growth and development, and any family history of genetic diseases.

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Secondly, genetic tests and DNA analyses, including:

• DNA methylation test, to accurately detect most genetic changes associated with Angelman syndrome.
• Chromosomal analysis, to determine if there is any change or deletion in chromosome 15.
• Gene mutation analysis, to determine the presence of any changes in the DNA sequence of the UBE3A gene.
• DNA testing of both parents, to help determine which of them carries a genetic change that may increase the risk of having a child with Angelman syndrome.

Some other tests to diagnose Angelman syndrome include:

• Electroencephalography, in order to record the electrical activity of the brain and detect any abnormalities that may indicate epileptic seizures.
• Magnetic resonance imaging, used to evaluate the structure of the brain and detect any abnormalities.

Frequently asked questions

What are the treatment methods for Angelman syndrome?

There is no specific treatment for Angelman Syndrome, but available treatments focus on alleviating symptoms and improving the quality of life of those affected. The treatment methods used for Angelman Syndrome at Al Mousa Specialist Hospital include the following:

• Treating seizures, using anti-epileptic medications to control seizures. The doctor may need to try several types of medications to determine the most appropriate for each case.
• Speech and communication therapy, through the use of alternative means of communication such as sign language, pictures, and electronic communication devices, as the treatment aims to develop the child’s ability to communicate and express his needs.
• Physical therapy, to help improve balance, strengthen muscles, motor coordination, and improve the ability to walk and move, as treatment focuses on developing fine and gross motor skills.
• To treat sleep problems, the doctor may prescribe some medications or resort to behavior modification techniques to improve sleep quality.
• Behavioral therapy, to help the child deal with hyperactivity, concentration difficulties, and other behavioral problems, where behavior modification techniques are used to teach the child new skills and reduce unwanted behaviors.
• Nutritional support: Some children need it to ensure that they receive adequate nutrition, as the nutritionist helps in developing the appropriate nutritional plan. 
• Early intervention, which is crucial to achieving the best results, includes a range of educational and therapeutic services aimed at developing the child’s skills in various fields.

Is Angelman syndrome serious?

Yes, Angelman syndrome is dangerous because of its profound impact on the child’s growth and development and his acquisition of motor and language skills. The child also suffers from movement and balance problems, sleep disorders, and epileptic seizures. 

Is Angelman syndrome considered a type of autism?

No, Angelman syndrome is not a type of autism. Of course, there are some similar symptoms between them, such as: the child suffering from developmental delays, communication difficulties, and the appearance of some repetitive behaviors in both disorders. 

 But they differ in some key points, for example:

• Angelman syndrome has a specific genetic cause, while autism has more complex causes.
• The main symptoms of Angelman syndrome relate to movement, balance, and seizures, while the main symptoms of autism relate to social communication and repetitive behaviors.
• People with Angelman syndrome often have a cheerful personality and laugh a lot, while people with autism have difficulty communicating socially and expressing emotions.

In conclusion, although there is no specific treatment to cure Angelman syndrome, early diagnosis, intervention, and supportive treatments significantly improve patients' quality of life.

Doctors specializing in genetics and neurology at Al Mousa Specialist Hospital can perform the necessary tests to diagnose Angelman syndrome, including genetic testing, as well as treatment and symptom management.

The hospital provides comprehensive care for individuals with Angelman syndrome, which includes regular medical follow-up, psychological and social support, and genetic counseling for families with a history of Angelman syndrome, to assess the risk of having affected children.

For more detailed information, you can visit Al Mousa Health Group’s website, or contact the hospital directly.

Sources and references

Angelman Syndrome – childrenshospital

Angelman Syndrome – nih