Hello, it’s your health buddy! Let’s feel better together. Today, I’m here to share some symptom insights and helpful tips about Angelman Syndrome. Let’s dive in!
Symptoms, Causes, Treatments, and Prevention Strategies
What is Angelman Syndrome?
Angelman Syndrome (AS) is a rare genetic disorder that affects brain development. It causes severe intellectual disabilities, difficulties in speech, problems with movement and balance, and unique behavioral characteristics.
It was first described by British pediatrician Dr. Harry Angelman in 1965. Most children start showing signs between 6 to 12 months, with clear developmental delays becoming more noticeable as they grow.
Thanks to advancements in genetic testing, early diagnosis is now more possible than ever.
Causes of Angelman Syndrome
This condition is linked to a problem with the UBE3A gene on chromosome 15, which plays a key role in brain function.
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Maternal gene deletion (about 70% of cases)
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Paternal uniparental disomy (2–4%)
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Gene mutations or structural abnormalities
In AS, the brain doesn’t receive the protein it needs from the mother’s copy of the gene, leading to neurological issues.
Common Symptoms of Angelman Syndrome
Children with Angelman Syndrome may show:
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Small head size (microcephaly)
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Severe delays in speech
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Motor coordination problems
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Developmental delays in sitting, walking, etc.
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Frequent smiling and a happy, excitable personality
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Seizures (epilepsy) in over 80% of cases
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Sleep disturbances
These symptoms can vary but are key in reaching a diagnosis.
Treatment Options
Although there's no cure yet, early intervention and supportive care can improve the quality of life.
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Antiepileptic medications for seizure control
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Speech therapy using AAC devices, gestures, and visual aids
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Physical therapy to support mobility and balance
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Behavioral therapy for improving social and focus skills
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Early intervention programs to support development
Prevention and Support Strategies
While Angelman Syndrome cannot be fully prevented, here are steps to manage it early:
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Genetic testing before pregnancy, especially with family history
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Early diagnosis through observation of delays and professional testing
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Emotional support for families—join support groups or talk to specialists
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Regular rehabilitation therapy to maintain and improve function
What may first seem like a developmental delay could be something more. That’s why early diagnosis, ongoing therapy, and public awareness are so important.
If society becomes more understanding and support systems continue to grow, children with Angelman Syndrome will have a much brighter future.
