What is Angelman syndrome?

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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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.

Common Symptoms:

Symptoms of allergies differ depending on the type, yet they may encompass:

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Angelman Syndrome Symptoms

Physical Features

Individuals with Angelman Syndrome typically have certain distinctive physical features, including a small head size (microcephaly), a wide mouth with a protruding tongue, a happy and excited demeanour, and often exhibit hand-flapping movements.

Cognitive and Developmental Challenges

Angelman Syndrome leads to severe developmental delays and intellectual disabilities. Individuals may have limited or absent speech, struggle with fine and gross motor skills, and experience challenges with balance and coordination.

Seizures

Seizures are a common complication in Angelman Syndrome, often appearing during early childhood and continuing throughout the individual's life.

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Angelman Syndrome Diagnosis

Clinical Evaluation

Diagnosing Angelman Syndrome involves a thorough clinical assessment of physical features, developmental milestones, and behavioural patterns.

Genetic Testing

Genetic testing, including chromosomal microarray analysis or DNA methylation testing, can confirm the presence of the UBE3A gene mutation or deletion.

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Angelman Syndrome Management and Treatment

Multidisciplinary Approach

Treating Angelman Syndrome requires a collaborative effort among medical professionals, including paediatricians, neurologists, developmental specialists, speech therapists, and occupational therapists.

Seizure Management

Effective management of seizures often involves antiepileptic medications prescribed by a neurologist.

Communication Therapies

Speech and communication therapies play a crucial role in helping individuals with Angelman Syndrome develop non-verbal communication skills and augmentative communication methods.

Physical and Occupational Therapies

Physical and occupational therapies focus on improving motor skills, coordination, and overall physical functioning.

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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.

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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.

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Angelman Syndrome Complications

Feeding difficulties: Feeding problems in babies can be caused by difficulties coordinating sucking and swallowing. To assist your baby in gaining weight, your paediatrician may recommend a high-calorie formula

Hyperactivity:Children with Angelman syndrome quickly switch from one job to another, have a limited attention span, and keep their hands or toys in their mouths. Hyperactivity usually decreases with age, and medication is rarely necessary.

Sleep disorders:Angelman syndrome patients frequently have irregular sleep-wake rhythms and may require less sleep than the general population. Sleep problems may improve with age. Sleep disorders may be controlled with medication and behavioural treatment.

The curvature of the spine (scoliosis):Over time, some patients with Angelman syndrome develop an irregular side-to-side spine curvature.

Obesity:Older children with Angelman syndrome have a voracious appetite, which can progress to obesity.

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Do's and Don'ts:

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

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Angelman Syndrome Treatment At Medicover Hospitals

Medicover Hospitals is committed to providing comprehensive medical care in a variety of disciplines, including rare and severe disorders such as Angelman Syndrome. Medicover Hospitals provides specialised care and support for persons with Angelman Syndrome through a team of highly qualified medical Pediatricians, featured Pediatric facilities, and a patient-centered approach.

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