Angelman syndrome

Angelman syndrome is a genetic disorder that causes developmental disorders and neurological problems, such as difficulty with:

• Maintaining balance while walking;
• Speaking;

Constant smiling and bursts of laughter are characteristic of people suffering from the disease and many of them are happy and alert individuals.

The disease is usually not detected until parents notice a developmental delay between the 6th and 12th months of the baby’s life.

Seizures in most cases begin when the child is between 2 and 3 years of age.

Most people suffering from the disease live normal lives, but as they age, they become apathetic and lose interest in life.

What are the symptoms?

• Developmental delays, such as the baby not crawling and babbling between 6 and 12 months of age, and intellectual disabilities are found ;

• Trembling when moving arms and legs;

• Difficulty walking and moving different parts of the body;

• Those affected are happy and awake individuals;

• They often smile and laugh;

• Young children start speaking late and are not able to acquire speech skills;

In people suffering from the disease, there are also other characteristic clinical manifestations, such as:

• Seizures starting in the 2nd or 3rd year of life;

• Sudden and very sharp movements;

• Small size of the head, the back of which is completely smooth;

• To balance their body when walking, the affected raise their arms up;

• Weak pigmentation of the hair, skin and eyes – hypopigmentation;

• Impaired eye muscle coordination – squint;

• Abnormal shape of the tongue;

At birth, it is not possible to establish the presence of the disease.

And since the initial signs of developmental delay appear between 6-12 months of life, if you notice during this period that your baby has not started babbling or crawling, refer to his personal pediatrician for consultation.

What are the causes?

The disease is genetic and is most often caused by an abnormal gene located on chromosome 15 called ubiquitin-protein ligase /UBE3A/.

A missing or defective gene

Usually genes from one pair are active. This means that cells use information from both the maternal and paternal copies of each pair of genes.

But with a small number of genes, only one copy of the gene pair is active. The activity of each gene depends on whether it originates from the mother or the father.

This gene activity determined by parentage is called imprinting.

When the active copy of these genes is missing or defective, it causes problems in the functions and characteristics that this gene controls.

Usually only the maternal copy of the UBE3A gene is active in the brain, a condition known as genomic imprinting.

Most cases of Angelman syndrome occur when the part of the mother’s chromosome 15 that contains this gene is missing or defective.

And a small number of cases of the syndrome are the result of inheriting 2 copies of the gene from the father, instead of one from the mother and one from the father /paternal uniparental disomy/.

Treatment of Angelman syndrome

Use:

• Anticonvulsants – may be needed to control seizures;

• Physiotherapy – prescribed so that affected children can learn to walk better and overcome other movement disorders associated with the disease;

• Therapy to improve communication skills – although affected people cannot learn to form more complex sentences, communication therapy can be helpful in learning non-verbal language skills.

• Behavioral therapy – applied to overcome hyperactivity;