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10 Common Symptoms of Angelman Syndrome

Condition:

Angelman Syndrome is genetic disorder that features disabilities and nerve-related symptoms. It usually isn't detected in children until developmental delays are noticed, which is around six to 12 months old.

Also known as Happy Puppet Syndrome, Angelman Syndrome is rare, with less than 200,000 cases diagnosed each year in the United States. Anti-seizure medication and various therapies are utilized to treat Angelman Syndrome.

Symptom 1: Developmental/Intellectual Disabilities

Is your child having delays in development? Most children with Angelman Syndrome have severe developmental and intellectual disabilities.

But, they have strong non-verbal reasoning and socialization abilities. They are able to play and interact with other children.

Symptom 2: Lazy Eye

Physical features of children with Angelman Syndrome include a lazy eye, large ears, and flat feet. 

A lazy eye may be due to a normal eye losing vision when the brain does not pay attention to input.

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Symptom 3: No/Rarely Speaking

Children with Angelman Syndrome have talking and speech delays. They tend to understand communication more so than expressing themselves by speaking. They are able to develop words, but may use gestures or assistive devices to communicate.

According to the National Organization for Rare Disorders (NORD), “Children with Angelman syndrome also have significant communication difficulties. Most children do not develop the ability to speak more than a few words. Children usually can understand simple commands. Older children and adults may be able to communicate through gesturing and or using communication boards.”

Symptom 4: Trouble Walking/Moving

Does your child not crawl yet, even though they are 6-12 months old? Children with Angelman Syndrome take longer to learn how to sit, crawl, and walk. Most children can eventually walk, but may require assistance or be less coordinated.

According to NORD, “An early finding in most children with Angelman syndrome is a movement or balance abnormality that includes jerky movements due to an inability to coordinate voluntary movements (ataxia). Children with Angelman syndrome may hold their arms up with the wrists and elbows bent and may flap their hands repeatedly when walking or excited. Diminished muscle tone (hypotonia) of the trunk, increased muscle tone (hypertonia) of the arms and legs, and abnormally exaggerated or brisk reflex responses (hyperreflexia) may also occur. Some children with Angelman syndrome experience subtle tremors of the arms and legs. These movement disorders may be apparent early during infancy (approximately 6-12 months of age). Motor milestones (e.g., walking) are usually delayed. In mild cases, children may begin to walk at 2-3 years of age. In more severe cases, walking may be noticeably slow, stiff, and jerky. Some children may not be able to walk until they are 5-10 years of age. In approximately 10 percent of cases, children with Angelman syndrome do not walk unaided.”

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Symptom 5: Smiling/Laughing

Everyone loves to see a child smile and laughing. However, those with Angelman Syndrome are specifically known for such behavior.

According to NORD, “Infants and children with Angelman syndrome have a distinct behavioral pattern marked by a happy demeanor with frequent and often inappropriate episodes of unprovoked, prolonged laughter and smiling. Children with Angelman syndrome may be easily excited, hypermotoric and hyperactive. They are active explorers and often may appear to be constantly in motion.”

Symptom 6: Unable to Balance

Angelman Syndrome is a genetic disorder that primarily affects a child’s nervous system. Therefore, characteristics include problems with balance (ataxia) and movement.

They are unable to coordinate voluntary movements. Their movements and balance are often forward lurching, unsteady, clumsy, or jerky. 

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Symptom 7: Short Stature

Those with Angelman Syndrome can have microcephaly. This means the circumference of their head is smaller than usual for their age and weight. They tend to be shorter than others.

Also, Angelman Syndrome causes unique facial features.

Symptom 8: Seizures

Epileptic seizures can happen for those with Angelman Syndrome. The seizures typically begin when a child is one to five years old. Fortunately, the seizures decrease and improve by adolescence.

According to Spectrumnews.com, “Mutations in a set of neurons that dampen brain activity may be the source of seizures in an autism-related condition. The neurons lack UBE3A, the gene mutated or missing in Angelman syndrome and duplicated in some cases of autism.”

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Symptom 9: Drooling

Those with Angelman Syndrome frequently, excessively, and uncontrollably drool.

Also, they have excessive chewing and mouthing behaviors, as well as tongue thrusting.

Symptom 10: Sleep Disorder

Those with Angelman Syndrome usually suffer from sleeping disorders.

According to Angelmantoday.com, “Some angels sleep only a couple of hours a night, some fall asleep easily but wake up very early and some fall asleep very late and sleep late in the morning. This can disturb the school schedule or therapy sessions and it is exhausting physically and psychologically for the parents and caretakers. The majority of angels, do not take naps and when they fall asleep it is usually late in the afternoon which disturbs the usual sleep pattern. In order to increase the chance for our angels to fall asleep at a normal time, it is very important to keep them physically active and intellectually stimulated during the day.”

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