Also known as “infantile spasms,” West syndrome is a rare form of epilepsy that usually starts around the age of five months. The disease manifests itself through a series of involuntary muscle contractions. The baby convulses, and its eyes roll back into its head. These spasms are typically sequential and can occur several times a day.
Although these spasms can disappear with treatment, West syndrome often results in intellectual and psychomotor issues. This is because even if the child does not show signs of epilepsy between seizures, their brain continues to function abnormally. The long-term result is damage to the child’s brain and potential developmental delay.
West syndrome afflicts boys more than girls, and occurs in one in 22,000 to 34,000 births.
The first instance of West syndrome usually occurs before the child’s first birthday, most often around the age of five months. That said, symptoms can appear anywhere from birth until the age of five years old. A diagnosis of West syndrome can be confirmed by an electroencephalogram, an examination that records the electrical activity of the brain.
West syndrome manifests itself through muscle contractions of the body – also known as spasms – that usually occur upon waking. These spasms are usually in flexion, that is to say the child curls up by folding his arms and legs. In rare cases the contractions can happen in extension. The child stretches his legs, arms, and neck up or to the side in sudden movements.
Spasms typically don’t last longer than two seconds and occur in series. A child or baby can have bursts of a dozen spasms that come every 30 seconds. A crisis can last several minutes and can be repeated several times a day.
It should be noted that in some children, the eyes will roll back during spasms, while in others the movement of the eyes may be the only symptom. If the child does not present particular symptoms between crises, after these eye movements the child tends to cry a lot.
West syndrome can damage the brain and often causes a delay or slowdown in the psychomotor development of children. This can result in a delay in learning essential life skills such as sitting, walking, speaking, and cleanliness. Some children can even lose skills and abilities that they’d already acquired.
The severity of these development delays varies significantly from one child to another.
In 70% to 80% of cases, West syndrome is caused by a brain abnormality. This is known as symptomatic West syndrome since signs of brain damage are present even before the onset of seizures. These lesions may be caused by a lack of oxygen at birth, a malformation, or an infection such as encephalitis or meningitis.
In 10% of cases, the baby has no brain lesions and develops normally before their first onset of seizures. This is known as idiopathic West syndrome.
In some cases, the cause of West syndrome is unknown.
Treatment of West syndrome is done with the aim of stopping or reducing spasms and correcting abnormal brain activity. Treatment varies case by case and consists of a combination of different antiepileptic drugs. Vigabatrin is the most prescribed medicine in treatment of the disease. While in some cases this drug alone is sufficient, for some patients it has to be combined with other drugs such as corticosteroids in order to increase the effectiveness of treatment.
Other antiepileptics can be used, such as felbamate, sodium valproate, and lamotrigine. In some children, however, these drugs can fail to stop spasms. In some exceptional cases, brain surgery may be considered.
It should be noted that at the age of five, spasms usually stop occurring. However, children can be left with psychomotor delays. These children can be treated by different specialists such physiotherapists, psychometrists, occupational therapists, and speech therapists.