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Angelman Syndrome

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Summary

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Angelman syndrome is a disease that affects the brain. It makes it hard for a person to communicate, learn, and remember things. It also causes problems with movement and balance and can make a person have a happy personality. There is no cure, but with help from doctors and specialists, people with Angelman syndrome can still have a good life.

 

Table of Contents

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Frequently Asked Question

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What are the symptoms of Angelman syndrome?

The symptoms of Angelman syndrome can include difficulty speaking and communicating, learning and memory problems, issues with movement and balance, and a happy and excitable personality.

 

Is there a cure for Angelman syndrome?

Unfortunately, there is currently no cure for Angelman syndrome. However, with early intervention, therapy, and educational programs, people with Angelman syndrome can still reach their full potential.

 

How is Angelman syndrome diagnosed?

Angelman syndrome is diagnosed through a combination of genetic testing and clinical evaluation by a medical professional. The diagnosis may include EEG and MRI scans to examine the brain.

 

Scientific Definition

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Angelman syndrome is a rare genetic neurological disorder. It causes problems with development, including difficulty speaking and communicating, as well as learning and memory problems. People with Angelman syndrome may also experience movement, balance, and coordination issues and have a happy, excitable personality. The condition is caused by a problem with a specific gene. It is usually inherited from a parent, but sometimes it can occur randomly. Although Angelman syndrome has no cure, children with the condition can benefit from early intervention, therapy, and educational programs. Families need to work with a team of doctors and specialists to help manage symptoms and support their loved ones with Angelman syndrome.

 

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Treatment for Angelman Syndrome

While there is currently no cure for Angelman Syndrome (AS), a variety of strategies can be employed to manage symptoms and improve the quality of life for individuals with this condition. Management plans are usually multidisciplinary and individualized, addressing the specific needs of each person.

  • Medication: Prescription drugs can help manage certain symptoms of AS. For example, antiepileptic drugs are often used to control seizures, a common symptom of AS.
  • Physical Therapy: This can help improve mobility issues. Let’s say we have Emma, a child with AS, who struggles with balance. Regular physical therapy sessions can help her gain strength and stability, making movement easier and safer.
  • Speech Therapy: Since AS often affects speech, therapy can provide tools to aid communication. It might be using a picture exchange communication system (PECS) for a child like Emma to express her needs and thoughts.
  • Occupational Therapy: This helps with daily living skills. Imagine Emma struggling with tasks like dressing or eating independently. Occupational therapists can teach her skills to manage these tasks, promoting self-sufficiency.
  • Behavioral Therapy: To manage behavioral issues, therapy can help teach coping mechanisms. If Emma often gets overly excited, behavioral therapy can guide her to better handle these situations.
  • Educational Intervention: Adapted teaching methods and special education services can cater to learning disabilities. By altering teaching techniques, Emma’s educators can help her grasp new concepts at her own pace.

The long-term prognosis for individuals with Angelman Syndrome varies greatly. Some individuals may gain certain skills over time with intervention, while others may continue to require assistance with daily tasks. Despite the challenges, with a personalized and comprehensive treatment plan, individuals with AS can lead rewarding lives, participating in their communities and achieving personal goals. Remember, regular follow-ups and continuous support from a multidisciplinary team of healthcare and educational professionals can optimize outcomes for people living with AS.

 

Goally could be an instrumental tool in supporting kids with Angelman Syndrome. With its digital visual schedules, AAC, and gamified learning apps, it can help these children build essential life and language skills in an engaging and fun manner.

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Symptoms of Angelman Syndrome

Angelman Syndrome (AS) affects the nervous system, resulting in unique behavior and physical characteristics. If your child has AS, here’s what you may notice:

  • Developmental Delays: Struggles with crawling, walking, and movement balance.
  • Speech Limitations: Might only form few words or none.
  • Intellectual Challenges: Severe learning difficulties and problem-solving issues.
  • Distinct Movement: Noticeable tremors, jerky movements, and balance issues.
  • Unique Behavior: A happy demeanor, excessive excitability, frequent laughter, and sociability.
  • Seizures: Common in AS, varying from mild to severe.
  • Sleep Issues: Irregular sleep patterns, frequent waking during the night.
  • Physical Traits: Wide mouth, widely spaced teeth, lighter skin, and hair, flat back of the head.

Remember, these symptoms could be linked to other conditions, so a genetic consultation is crucial for accurate diagnosis and treatment. Despite challenges, with support and intervention, your child can lead a fulfilling life.

 

This post was originally published on Feb. 4, 2023. It was updated on May 31, 2023.

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