What is Angelman syndrome?

Q: Are there associated health concerns with Angelman Syndrome?

Common health concerns include seizures, sleep disturbances, and limited speech abilities among individuals with Angelman Syndrome.

Q: Can people with Angelman Syndrome communicate?

Most individuals with Angelman Syndrome face severe speech and communication challenges. They often use gestures, communication devices, or sign language.

Angelman Syndrome is a rare genetic disorder that primarily affects the nervous system, leading to developmental delays, intellectual disabilities, and distinct physical traits. Individuals with Angelman Syndrome often exhibit a unique and joyful demeanour, which has led to its colloquial term, "happy puppet syndrome."

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What are the Symptoms of Angelman Syndrome?

Symptoms of Angelman Syndrome include:

Physical features like microcephaly, wide mouth, protruding tongue, and hand-flapping.
Severe developmental delays and intellectual disabilities, limited speech, and motor skill challenges.
Common seizures starting in early childhood and persisting.

Angelman Syndrome Causes

Angelman Syndrome is most commonly caused by a deletion or mutation of the UBE3A gene on chromosome 15. This gene encodes a protein required for nerve cell communication throughout the brain. The absence or dysfunction of the UBE3A gene disrupts normal brain development and function.

Angelman Syndrome Diagnosis

Clinical Evaluation : Involves thorough assessment of physical features, developmental milestones, and behavioral patterns.
Genetic Testing : Includes chromosomal microarray analysis or DNA methylation testing. Confirms UBE3A gene mutations or deletions.

Angelman Syndrome Management and Treatment

Multidisciplinary Approach : Requires collaboration among pediatricians, neurologists, developmental specialists, speech therapists, and occupational therapists.
Seizure Management : Involves prescribed antiepileptic medications from neurologists.
Communication Therapies : Essential for developing non-verbal communication skills and augmentative methods.
Physical and Occupational Therapies : Aimed at enhancing motor skills, coordination, and overall physical function.

When to see a doctor?

Most Angelman syndrome kids are born with no indications or symptoms. Angelman syndrome commonly manifests as developmental delays, such as a lack of crawling or babbling, between 6 and 12 months.

Make an appointment with our Paediatricians if your kid appears to have developmental delays or other indications or symptoms of Angelman syndrome.

Angelman Syndrome Risk factors

Angelman syndrome is uncommon. Typically, researchers do not know what causes the genetic alterations that result in Angelman syndrome. Most patients with Angelman syndrome have no family history of the disease.

Angelman syndrome can be inherited from either parent. Angelman syndrome is more likely in babies with a family history of the disease.

Angelman Syndrome Complications

Feeding Difficulties : Infants may struggle with sucking and swallowing coordination. Pediatricians may suggest a high-calorie formula to aid weight gain.
Hyperactivity : Children with Angelman syndrome often exhibit rapid task-switching, limited attention spans, and mouthing objects. Hyperactivity tends to diminish with age, rarely requiring medication.
Sleep Disorders : Patients commonly experience irregular sleep patterns and may need less sleep than average. Sleep issues often improve with age and can be managed with medication and behavioral therapies.
Scoliosis : Some individuals develop spinal curvature over time.
Obesity : Older children may experience increased appetite leading to obesity.

Do's and Don'ts:

Angelman Syndrome Do's and Don'ts: Providing Support and Understanding

Do's	Don'ts
Embrace individuality and celebrate strengths.	Underestimate the abilities of individuals with Angelman Syndrome.
Establish a structured daily routine.	Create overwhelming sensory environments.
Use communication strategies like visual aids.	Ignore medical care and consultations, especially for seizures.
Employ positive reinforcement techniques.	Assume communication limitations; explore alternative methods.
Encourage physical and sensory activities.	Neglect safety measures due to increased risk of coordination challenges.
Collaborate with a multidisciplinary team.	Overlook emotional needs and positive interactions.
Utilize adaptive devices for independence.	Allow isolation; promote social interactions.
Enroll in speech, occupational, and physical therapy.	Set rigid expectations; be flexible in progress.
Foster inclusion in social and community settings.	Overload with complex communication; keep interactions simple.
Exercise patience and allow extra time.	Stigmatize; use inclusive language and attitudes.

If you have any questions, please fill out the enquiry form or call us, and we will get back to you promptly.

040-68334455

Frequently Asked Questions

Is Angelman Syndrome hereditary?

In most cases, Angelman Syndrome isn't inherited from parents. It usually results from a random genetic mutation.

Are there associated health concerns with Angelman Syndrome?

Seizures are a common health concern among individuals with Angelman Syndrome, along with sleep disturbances and limited speech abilities.

Can people with Angelman Syndrome communicate?

Most individuals with Angelman Syndrome have severe speech and communication challenges, but they often use gestures, communication devices, or sign language.

Is there a cure for Angelman Syndrome?

Currently, there is no cure for Angelman Syndrome. Treatment focuses on managing symptoms, therapies, and supportive care.

How is Angelman Syndrome diagnosed?

Diagnosis involves clinical evaluation, genetic testing to confirm the mutation or deletion on chromosome 15, and assessment of developmental and neurological traits.