Angelman Syndrome

Angelman syndrome is a genetic condition that is characterized by the presence of neurological disorders and problems of developmental disabilities. Problems in speaking, body balancing, walking, and in few cases seizures are caused due to Angelman syndrome. Lavish smiles and laughter outbursts are common signs of this syndrome. Most patients have a happy nature along with impulsive personalities.

The presence of this disorder is noticed only after the developmental delays take place when the baby is between 6 and 12 months old. Normally, the seizures occur at the age of 2 or 3 years.

Individuals affected by Angelman syndrome have a normal life span, and in most cases their excitable nature tends to reduce with the passage of time.The treatment includes care for their medical and developmental disorders.

Symptoms of Angelman syndrome

Some of the signs and symptoms of Angelman syndrome are listed below:

• Physical and intellectual developmental delayssuch asdelayed crawling and babbling
• The affected child may be unable to walk or move or balance, i.e.ataxia
• Lack of speech
• Decreased strength in arms and legs, along with tremors
• Excitable behavior
• Unusual laughter and smiling

Individuals with Angelman syndrome may also have the following other signs:

• Seizures at the age of 2 or 3
• Microbrachycephaly or small-sized head with flat back
• Strabismus or cross eyes
• Jerky movements or stiffness of body parts
• Unusual movements with raised arms
• Pigmentations in hair, eyes or skin
• Jutting out the tongue incessantly

Some Angelman syndrome associated complications include:

• Sleep disorders: Children with Angelman syndrome may have abnormal sleep-wake patterns, which may improve when they grow up. Medications and behavior therapy can control this disorder.
• Feeding problems: Few babies with Angelman syndrome may face difficulties in the ability to coordinate sucking and swallowing for first few months. Doctors may recommend high-calorie formula so that the affected baby can out on weight.
• Curving of spine or scoliosis: Some infants with Angelman syndrome may develop abnormal side-to-side spinal curvature.
• Obesity: Older infants with Angelman syndrome tend to possess more appetites that leads to obesity.
• Hyperactivity: Many infants with Angelman syndrome develop excess hyperactivity which improves automatically when they grow older.

When to approach a doctor

Angelman syndrome does not show any visible signs when the baby is born. The condition is noticed between6 and 12 months, when the affected infants are found to lack normal growth and movements. As soon as the developmental delays are noticed, it is better to contact a child specialist.

Causes of Angelman syndrome

Angelman syndrome is caused by a gene deficiency present in chromosome 15, called as ubiquitin-protein ligase E3A or UBE3Agene. The characteristics of a person are determined by different genes occurring in the body, which in turn are segments of the DNA.The transfer of genes occurs in pairs, and each copy is received from the mother and father.

The result of a missing or defective gene:Normally, both copies occurring in a gene pair are active. The body cells use information from both the genetic material copy of parents and imprint the characteristics. In few cases only one copy is active. The missing or defective gene copy is the cause for problems in the functions and characteristics ruled by that gene; which is what causes the symptoms of Angelman syndrome.

Only the copy of UBE3A gene from the mother is usually active in the brain, due to genomic imprinting. When this maternal copy of the gene present in chromosome 15 is missing or defective, then it results in Angelman syndrome. In a few cases,Angelman syndrome is also caused due to paternal uniparental disomy, i.e., when two paternal gene copies are inherited instead of one from mother and another from father.

The exact causes for the genetic change is not known to researchers. Most cases are not hereditary. However a family history of the condition may increase the risk to developing Angelman syndrome.

Diagnosis of Angelman syndrome

A combination of genetics tests can help in diagnosis of Angelman syndrome. These tests will check for:

• Missing chromosomes: The fluorescence in situ hybridization (FISH) test will indicate the portions of missing chromosomes, if any.
• Chromosome shape, size and number: This test of chromosome analysis (karyotyping) will study the cell samples
• Gene mutation:  A child’s maternal copy of UBE3A(active but mutated gene) rarely causes Angelman syndrome. An UBE3A gene sequencing test will reveal its presence.
• Parental DNA pattern: The imprinting pattern of gene is revealed by the DNA methylation test. Generally in the DNA test, the genes of both parents are found to be active. In a majority of Angelman syndrome cases the maternal copy of the gene is lost. Hence, that copy is not functional in the brain.

Angelman Syndrome – life expectancy

The life span is normal and lasts long as that of a normal person.  But it is beset with neurological and developmental issues.  Proper care, medication and support goes a long way in ensuring a healthy life.

Treatment 

There is no medicine for curing Angelman syndrome, as there is no way to repair the chromosomal defects. However depending on the signs, the treatment is focused on managing the medical and developmental problems.

• Doctors may recommend use of anti-seizure medications, physical therapy, communication therapy, behavior therapyto alleviate the associated symptoms
• The NINDS extends support and conducts research on techniques to diagnose, prevent, treat, and cure the neuro-genetic problems causing Angelman syndrome. Parents may contact them for support and information.

Angelman Syndrome Pictures

Given below is the photo of actor Collin Farrell’s son James who has Angelman Syndrome.