Angelman Syndrome

Angelman syndrome is a genetic condition wherein affected babies may elicit developmental delays, speech defects, imbalance, abnormal walking and posture, seizure, and other neurological issues.

Developmental deficits become visible in 6 to 12 months post birth while convulsions start after 2 to 3 years. Angelman syndrome patients are usually happy and have an excitable and genial personality. They may have random bouts of laughter and tend to smile on a regular basis without any cause.

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Symptoms

Some of the common signs and symptoms observed in children affected by Angelman syndrome are listed below:

  • Physical anomalies
    • The most visible sign of Angelman syndrome is a head that is abnormally flattened on the posterior. Affected babies are born with a normal sized head; but it does not grow normally as the baby ages. But by age 2, the unusually small size of the head can be easily recognized.
    • Crossed eyes
    • The skin, hair, and eyes feature light pigmentation
    • Wide-spaced or wide set teeth
    • Deficient muscle coordination or ataxia can cause varied problems like wobbly weak walking, imbalance, and/or restrictive movements.
    • Children with Angelman syndrome may thrust or push out their tongues, walk while holding up their hands, or repeatedly keep flapping their hands like puppets.
    • The upper and lower limbs may exhibit jerky, irregular, or rigid motion; tremors or shaking; and or trembling.
  • Developmental anomalies
    • Developmental deficits. This may include delays in reaching growth milestones like rolling over, crawling, sitting, or walking. Affected infants may develop at a rate that is 6 to 12 months slower than normal healthy children.
    • Intellectual development may also be delayed
    • Speech is minimal or absent. Impaired of speech tends to be profound. Babbling and other sounds may occur 6 to 12 months after birth. Infants with Angelman syndrome may show severely limited use of words.
  • Personality anomalies
    • Toddlers may feature a regular smile for no apparent reason. They may also sporadically burst into laughter.
    • Affected babies and infants are quite hyperactive and may be very energetic for the entire day. Such energy may sometimes be uncontrollable.
    • The attention span tends to be short and limited. Other kinds of attention issues may also be observed.
    • The personality is unusually excitable and joyous
  • Other anomalies
    • Feeding difficulties may be observed, especially newborns that are a month or two old.
    • Seizures occur after the affected infants are 3 years old or more.
    • Constipation, constant drooling, and obesity may be evident.
    • Waking and sleeping patterns are irregular.

Causes of Angelman syndrome

Angelman syndrome is a congenital hereditary disorder caused by occurrence of abnormalities in the UBE3A gene (ubiquitin-protein ligase E3A) present in chromosome 15.

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  • Genes are transferred in pairs to babies from parents; one copy of the gene is passed from the paternal side while the other copy is passed by the mother. Both the genes copies are usually active, but in some cases only one copy is active. For example, the UBE3A gene copy inherited from the mother is the only one that is active in the brain.
  • Thus, occurrence of mutations or error in this maternal copy of the UBE3A gene can result in Angelman syndrome. It can also occur when the maternal copy is missing or when 2 inactive paternal copies of the gene, and no maternal copy, is passed to the unborn child.
  • The error and mutations in genes occur sporadically during development of the sperm, egg, or during fertilization or conception. Eventually, due to the genetic mutations, the baby will feature the developmental and neurological problems linked to Angelman syndrome.

There is no information about the exact factors or triggers that can lead to genetic errors or mutations associated with Angelman syndrome. A large percentage of affected babies are born in families with no previous history of the disorder. However, in some cases, the genetic anomaly may pass from an affected parent to the unborn child. Hence, babies born to adult patients are at increased susceptibility to be born with the condition.

Angelman Syndrome – Pictures

angelman syndrome images

angelman syndrome pictures

angelman syndrome photo

Treatment

Currently there are no means by which errors in a gene can be corrected. Hence, Angelman syndrome cannot be cured. Treatment is aimed at controlling symptoms and preventing the development of complications.

A few treatment options include:

  • Seizures and convulsions can be treated with anti-seizure medications
  • Speech issues can be alleviated with speech therapy; in this patients may also be taught varied non-verbal ways to communicate.
  • Hyperactivity and related issues can be corrected via behavioral therapy.
  • Movement and walking difficulties can be overcome with physical therapy.

Angelman Syndrome – Life Expectancy

As it is a congenital genetic disorder, Angelman syndrome cannot be cured. However, patients can live a healthy life as long as proper steps are taken to control symptoms and prevent the onset of health complications. Medications, varied therapies, and proper care can ensure a normal life expectancy.

 

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