What Is Angelman Syndrome?
Angelman syndrome is a genetic disorder of the nervous system, wherein the gene involved in brain development and function is affected. Though every child is unique, many children born with Angelman syndrome show similar patterns, like lack of speech, an inability to walk properly, seizures, intellectual disability, and a happy, outgoing personality almost all the time. Hence, another name for this syndrome is happy puppet syndrome.
How Common Is It?
It is not easy to determine the exact number of people affected. Generally, it is considered a rare disease. Estimates suggest that 1 in 20000 live births may have this syndrome. It is seen affecting males and females equally. If one of the children is affected by Angelman syndrome, there is a chance that the next child to be born will also be affected. Angelman syndrome is not a life-threatening condition, and the majority of those affected have a normal lifespan. Although they may require support in daily tasks.
How Is Angelman Syndrome Inherited?
The genetics causing Angelman syndrome is complex. The ubiquitin protein ligase E3A enzyme (UBE3A) gene is located on chromosome 15. Normally, only the maternal copy of this gene is active, while the paternal copy is inactive.
Angelman syndrome develops when:
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The maternal copy is deleted.
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A mutation in the maternal gene occurs when the gene is present but not switched on properly.
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When a child inherits two paternal copies and no maternal copy.
What Are the Causes of Angelman Syndrome?
The main cause of Angelman syndrome is the loss of normal functioning of the UBE3A gene in the brain. This leads to disruption of neuronal development and synaptic plasticity (the ability to strengthen or weaken connections in the brain). This gene plays a significant role in various metabolic processes in the body; therefore, its absence has substantial effects.
What Are the Symptoms of Angelman Syndrome?
Here is how the symptoms are categorized: they are grouped into physical and intellectual symptoms, making it easier to understand.
Physical features:
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Peculiar walking style with legs held wide and stiff, with jerky movements of the body. The child has issues with balance and coordination while moving (ataxia). Also, it is seen that the child flaps an arm while walking.
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The child typically exhibits significant developmental delays in milestones.
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Most children develop seizures by the age of two to three.
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Sideways curvature in the spine (scoliosis).
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A typically small-sized head, which is relatively flat in the back.
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A broad face, deep-set eyes, and a wide mouth with widely spaced teeth.
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Frequent drooling due to the inability to swallow the saliva.
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The skin, eyes, and hair can be a shade lighter than the others in the family.
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Each eye points in a different direction (crossed eyes).
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Outwardly projected lower jaw.
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Issues with feeding as a baby may persist later on. Shows trouble sucking and swallowing in the infant stage.
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Tongue thrusting habit.
Intellectual features:
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Significant lack of attention and focus. Switch activities frequently without sticking to one.
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Severe learning disabilities and low intellect.
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Lack of speech or scanty speech. Most affected children later adapt to non-verbal forms of communication.
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Hyperactive behavior may decrease as the child grows.
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Socializing personality with a happy disposition.
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Problem getting sleep or showing minimal sleep requirement.
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Laughing and smiling a lot frequently, the laughter may be inappropriate and out of context.
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Gets excited easily.
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Increased hunger may lead to obesity.
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Often exhibit characteristic stubbornness and determination towards certain things. Trying to grab food and people around, and hair-pulling are a few among them.
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Some children tend to mouth random things and chew on clothes.
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A peculiar fascination with water and water-based activities.
How Is Angelman Syndrome Diagnosed?
Early diagnosis is beneficial because it allows for therapy and intervention to start sooner.
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Diagnosis involves combining clinical examination and genetic testing.
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In most cases, the child is brought to the doctor's attention around the age of six months to one year when parents notice delays in obtaining developmental milestones. They usually complain that the baby is not crawling or babbling as one is supposed to.
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Parents seek consultation following a seizure episode as well, around the age of 2-3 years.
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The doctor looks for a family history of Angelman syndrome and specific clinical features, such as a small head that is flat at the back, frequent bouts of laughter, and difficulty with walking and balancing oneself.
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The most important test for confirming the diagnosis of Angelman syndrome is genetic analysis, which involves examining the genetic units of the affected individual and family members to identify the UBE3A gene.
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The electroencephalogram (EEG) study also shows typically different electrical activities in the brain.
What Is the Treatment for Angelman Syndrome?
Angelman syndrome has no complete cure, as it is a genetic disease. However, a combined approach by specialists and the family can help the child regain function and manage their life.
Here are the commonly used methods:
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Antiseizure medicines like Sodium valproate (Epilim), Clobazam, and Levetiracetam (Keppra) help with frequent seizure attacks.
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Sleep management medicines, such as melatonin hormone supplements, can help children who sleep very little.
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For children with constipation issues, laxatives like Movicol (Macrogol) are given.
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Cross-eye (strabismus) may be treated with glasses and corrective surgery.
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Physical therapy helps with walking, mobilizing the joints, and improving motor activities.
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Speech therapy helps individuals develop effective communication skills. A speech and language therapist can help the individual learn nonverbal forms of communication, such as hand gestures, sign language, understanding facial expressions, and recognizing symbols. Training the affected individuals to use augmentative and alternative communication (AAC) devices, such as tablets and laptops, can also be beneficial.
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Occupational therapy can improve functional abilities to help lead an independent life. A therapist can advise the family on special equipment and home modifications to better accommodate the needs of the affected individual.
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Orthotic services help address mobility issues and improve posture. For example, one can use leg braces, custom-made shoes, splints, and insoles to improve walking and balance.
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Behavioral therapy, social skills training, and special education are needed, too.
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Talking to a genetic counselor helps understand the chances of the next child being born with Angelman syndrome so that parents can make informed decisions.
Living With Angelman Syndrome
Angelman syndrome is challenging, but with constant support from family, doctors, and therapists, many children with Angelman syndrome learn life skills and communication in their own ways. While their path may seem different, these kids are also full of potential. Planning treatment early and celebrating small progress will help them live their lives to the fullest.
Conclusion:
Angelman syndrome is very rare. Compared to many other conditions with intellectual disabilities, those affected with Angelman syndrome love to socialize and have interpersonal interactions. The desire to connect with others encourages the majority of the affected to develop their own ways of communicating. With the proper support and encouragement, they can learn new skills and household tasks to live in a community. A qualified healthcare professional can advise the child’s family on the various treatment strategies.
Key Takeaway From iCliniq
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Angelman syndrome is a rare genetic disorder affecting the nervous system, causing developmental delay, speech problems, and seizures.
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1 in 20,000 people across all races and genders are estimated to be affected with Angelman syndrome.
If you or someone you know has been diagnosed with Angelman syndrome, you can connect with our neurologist at iCliniq.
