What You Need to Know About Angelman Syndrome : Symptoms, Causes, Treatments, and Prevention Strategies

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

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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.

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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.

• Maternal gene deletion (about 70% of cases)

• Paternal uniparental disomy (2–4%)

• 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.

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Common Symptoms of Angelman Syndrome

Children with Angelman Syndrome may show:

• Small head size (microcephaly)

• Severe delays in speech

• Motor coordination problems

• Developmental delays in sitting, walking, etc.

• Frequent smiling and a happy, excitable personality

• Seizures (epilepsy) in over 80% of cases

• Sleep disturbances

These symptoms can vary but are key in reaching a diagnosis.

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Treatment Options

Although there's no cure yet, early intervention and supportive care can improve the quality of life.

• Antiepileptic medications for seizure control

• Speech therapy using AAC devices, gestures, and visual aids

• Physical therapy to support mobility and balance

• Behavioral therapy for improving social and focus skills

• Early intervention programs to support development

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Prevention and Support Strategies

While Angelman Syndrome cannot be fully prevented, here are steps to manage it early:

• Genetic testing before pregnancy, especially with family history

• Early diagnosis through observation of delays and professional testing

• Emotional support for families—join support groups or talk to specialists

• Regular rehabilitation therapy to maintain and improve function
  

Angelman Syndrome may be rare, but it deeply affects the lives of patients and their families.

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.

Symptoms, Causes, Treatments, and Prognosis of Autism

Hello, it’s your health buddy! Let’s feel better together. Today, I’m here to share some symptom insights and helpful tips about Autism. Let’s dive in!

Autism is a developmental disorder where delays or abnormalities occur in areas such as social skills, language, and communication development compared to others.

Typically, signs begin to appear before the age of 3. These may include delayed language expression and comprehension, weak attachment behaviors with parents, and low interest in play compared to other children.

After age 3, symptoms may become more pronounced, such as a significant lack of interest in peers, repetitive behaviors, restricted play activities, and delays in cognitive development.

About 75% of children with autism also have intellectual disabilities, and seizure disorders are frequently observed as well.

Current research into the causes of autism includes neurological theories—such as increased total brain volume and abnormalities in the temporal lobe—and biochemical theories involving neurotransmitters.

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The most recognizable symptoms of autism include difficulties in social interactions and impairments in language and communication.

Repetitive behaviors (known as "stimming") and emotional instability are also common. In most cases, autism is accompanied by some level of intellectual disability.

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Effective treatment for autism requires an integrated approach, and outcomes are generally better when therapy begins at an early age.

During infancy, therapy should focus on strengthening attachment between the caregiver and child. In the toddler years, behavior-based therapy that promotes social interaction, along with play therapy and language training, is recommended.

Between the ages of 4 and 6, a variety of interventions should be applied, including group play therapy and social skills training. At this stage, medication may also be considered to address hyperactivity and repetitive behaviors.

In elementary school years, consistent support is needed to help children develop social skills, cognitive learning abilities, and verbal communication.

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For younger children, it's more important for parents to actively interact with their child—taking into account their unique traits and preferences—than to rely heavily on medication.

Unproven treatments that make unrealistic promises are usually unhelpful. It's best to consult with a child psychiatrist to discuss treatments that have been shown to be effective.

Regular medical evaluations and proper medical care are also important throughout the treatment process.

Medications can be especially helpful for managing symptoms such as attention difficulties, behavioral regulation, emotional control, sleep issues, eating habits, and sensory processing challenges.

For example, Professor Temple Grandin, who is on the autism spectrum, underwent years of treatment during childhood and adolescence to reduce sensory sensitivity and improve emotional regulation. She has said that these treatments were highly beneficial.

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Autism is generally a lifelong condition, meaning that continuous management is necessary even after early interventions.

However, if the individual has an IQ of 70 or above and possesses language skills similar to those of a 5–7-year-old, a much more favorable prognosis can be expected with consistent treatment.

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Your health buddy is here for you. Wishing you a healthy and happy day ahead. Stay well!💖

This content is for informational purposes only and does not hold any individual or entity legally responsible. For accurate diagnosis and treatment of symptoms, please visit a nearby medical institution. This does not represent my final medical opinion and may vary depending on specific circumstances and evolving medical perspectives.