Famous people with Angelman Syndrome

Introduction 

 Angelman Syndrome is a rare neurogenetic disorder that affects the nervous system, causing developmental delays, intellectual disability, speech impairments, and a unique behavioral profile. Individuals with it often have a happy demeanor, characterized by frequent smiling, laughter, and a fascination with water. It was first described in 1965 by British pediatrician Dr. Harry Angelman, which is why it bears his name. 

 Angelman Syndrome is relatively rare, affecting approximately 1 in 12,000 to 20,000 people, this translates to about 500,000 individuals worldwide.This means that it can be challenging to diagnose, and some cases may go undetected. 

Individuals with Angelman syndrome generally have a near-normal life expectancy. The syndrome itself does not typically cause death, but complications from symptoms such as seizures and aspiration pneumonia can pose risks 

Causes 

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Caused by a deletion or mutation of the UBE3A gene on chromosome 15, Angelman Syndrome affects approximately 1 in 12,000 to 20,000 individuals worldwide. The majority of cases are sporadic, resulting from a random genetic error during sperm or egg formation. In rare instances, the syndrome can also be inherited in an autosomal dominant manner, where a child inherits the defective gene from a parent. 

How is Angelman Syndrome inherited? 

Angelman syndrome is primarily caused by issues with the UBE3A gene on chromosome 15. Here are the main ways it can be inherited or occur: 

1. Deletion: The most common cause (about 70% of cases) is a deletion of the maternal copy of the UBE3A gene. 

2. Mutation: In about 10-20% of cases, a mutation in the maternal copy of the UBE3A gene leads to the syndrome. 

3. Imprinting Center Defect: Around 6% of cases are due to defects in the imprinting center of chromosome 15, which controls gene activation. 

4. Paternal Uniparental Disomy (UPD): In about 3% of cases, the child inherits two copies of chromosome 15 from the father and none from the mother. 

Most cases of Angelman syndrome are not inherited but occur due to spontaneous genetic changes. However, in rare instances, it can be inherited from a parent 

Diagnosis 

Diagnosis of Angelman Syndrome typically involves a combination of clinical evaluation, genetic testing, and molecular studies to confirm the absence of the UBE3A gene. Early intervention is crucial in managing its symptoms, and a multidisciplinary team of healthcare professionals, including neurologists, genetic counselors, speech therapists, and occupational therapists, work together to provide comprehensive care for individuals with the syndrome.Angelman syndrome can be hard to diagnose because it shares symptoms with other types of syndromes. 

Tests 

A blood test can almost always diagnosis Angelman syndrome. This gene testing can find changes in a child’s chromosomes that indicate Angelman syndrome. 

A mix of gene tests can show the changes linked to Angelman syndrome. These tests may review: 

• Parental DNA pattern. This test, known as a DNA methylation test, screens for three of the four known gene changes that cause Angelman syndrome. 

• Missing chromosomes. A chromosomal microarray (CMA) can show if parts of chromosomes are missing. 

• Gene changes. Rarely, Angelman syndrome happens when a person’s maternal copy of the UBE3A gene is active but changed. If results from a DNA methylation test are typical, your child’s healthcare professional may order a UBE3A gene sequencing test to look for a maternal change. 

Because of the link between Angelman syndrome and seizures, a healthcare professional also might do an electroencephalogram (EEG). An EEG measures the electrical activity of the brain 

Symptoms 

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ngelman Syndrome vary in severity from person to person, but common features include delayed development, balance and coordination issues, seizures, sleep disturbances, and hyperactivity. Individuals with it may also exhibit a fascination with water, a high pain tolerance, and a happy demeanor despite their challenges. 

Common Behavioral Challenges 

1.Hyperactivity: Many individuals with Angelman syndrome display high levels of activity and may have difficulty staying still. 

2.Attention Deficits: They often have short attention spans and may struggle to focus on tasks. 

3.Sleep Disorders: Sleep problems, including difficulty falling asleep and staying asleep, are common. 

4.Repetitive Behaviors: Hand-flapping, clapping, and other repetitive movements are frequently observed. 

5.Aggression and Self-Injury: Some individuals may exhibit aggressive behaviors or self-injurious actions, such as biting or hitting themselves. 

6.Social Interaction Difficulties: While they often have a happy demeanor, they may struggle with social interactions and understanding social cues. 

Treatment/Management 

Although Angelman Syndrome was discovered over five decades ago, there is still much to learn about this complex disorder. Research is ongoing to explore potential treatments and therapies to improve the quality of life for individuals with it. Currently, management of the syndrome focuses on symptom management, behavioral therapies, and supportive care to address the individual needs of each patient. 

Management Starategies 

Management strategies for Angelman syndrome may include a combination of the following approaches:

1. Early intervention services: These may include physical therapy, occupational therapy, speech therapy, and developmental interventions to address motor and communication skills.

2. Behavioral therapies: Applied behavior analysis (ABA) and other behavioral therapies can help manage challenging behaviors and promote skill development.

3. Medications: Some medications may be used to manage specific symptoms such as seizures, sleep disturbances, or hyperactivity.

4. Special education programs: Individualized education plans (IEPs) can help tailor educational goals and support services to the unique needs of individuals with Angelman syndrome.

5. Supportive care: This includes regular health check-ups, monitoring for associated medical conditions, and addressing nutritional needs.

6. Assistive devices: Adaptive tools such as communication devices or mobility aids may be helpful in improving independence and quality of life.

7. Family support: Providing resources and support for families affected by Angelman syndrome is important in coping with the challenges associated with the condition.

It’s essential for individuals with Angelman syndrome to receive comprehensive care from a multidisciplinary team that can address their complex needs across different domains of development and health. Input from medical professionals specializing in genetics, neurology, developmental pediatrics, psychiatry as well as allied health professionals can help develop an individualized management plan suited to their specific needs

Who treats Angelman Syndrome? 

Treating Angelman syndrome typically involves a multidisciplinary team of specialists to address the various symptoms and challenges associated with the condition. Here are some of the key professionals who may be involved in the care of someone with it: 

1. Neurologists: Specialists in brain and nervous system disorders, they help manage seizures and other neurological symptoms. 

2. Geneticists: Experts in genetic disorders, they provide diagnosis and genetic counseling. 

3. Pediatricians: Primary care doctors for children, they coordinate overall care and monitor development. 

4. Speech and Language Therapists: They assist with communication skills, including alternative communication methods. 

5. Physical and Occupational Therapists: They help improve motor skills, balance, and daily living activities. 

6. Psychiatrists and Psychologists: They provide support for behavioral issues and mental health. 

7. Nutritionists: They address dietary needs and feeding issues 

Famous People with Angelman Syndrome 

Despite the challenges associated with Angelman Syndrome, there are several well-known individuals who have thrived and achieved success in their respective fields. One such individual is Carly Fleischmann, a nonverbal woman with it who gained fame as a writer, advocate, and TV host. Carly’s story is a testament to the resilience and potential of individuals with it. 

Conclusion 

In conclusion, while Angelman Syndrome presents unique challenges for individuals and their families, it is essential to recognize the abilities and accomplishments of those living with this condition. With ongoing research and support, individuals with it can continue to inspire others and make meaningful contributions to society.