Is West syndrome a disability?
West syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia and intellectual disability.
Is West syndrome fatal?
West syndrome is generally not life-threatening but it occurs more often in children with life-threatening conditions. Furthermore, the treatments used for West syndrome can (rarely) cause death. As a result, only 5 out of every 100 children diagnosed with West syndrome will not survive beyond the age of five years.
Is West syndrome curable?
There is no cure for West syndrome, so unfortunately, the only treatment is to reduce symptoms. West syndrome treatments usually include a course of prednisolone and/or an anti-epileptic medication. In a few individuals, surgery in the brain may help reduce symptoms.
How do you test for West syndrome?
How Is West Syndrome Diagnosed?
- Your doctor will do an EEG with your child awake.
- If the first EEG doesn’t show the expected brain pattern, they may do another one while your child is sleeping.
- An MRI or CT scan could show where in your child’s brain the seizures are happening.
Is West syndrome hereditary?
Genetics of West syndrome Mutations in least 100 individual genes have been identified so far that cause West syndrome. Some of these genes include CDKL5, SCN2A, SCN8A and STXBP1. Tuberous sclerosis, which is caused by pathogenic variants in the genes TSC1 and TSC2, can also lead to West syndrome.
How do you get West syndrome?
Sometimes West syndrome is caused by an injury to the brain. Other times, it is caused by developmental anomalies of brain structure. West syndrome can also be caused by genetic mutations or metabolic disorders. In some cases, no cause can be found.
Can you stop infantile spasms?
Infantile spasms usually stop by age five, but may be replaced by other seizure types. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to IS, making it important to identify the underlying cause. In some children, no cause can be found.
Is there a cure for infantile spasms?
Medicine to Treat Infantile Spasms (IS) The two standard treatments for IS are hormone therapy (ACTH or steroids) or a drug called vigabatrin (Sabril®). The choice of medicine depends on the cause of your child’s IS. There are side effects of each treatment and parents should watch their child closely.
How common is West syndrome?
West syndrome happens in about one in 2,500-3,000 children.
What is the reason for West syndrome?
Causes of West syndrome Sometimes West syndrome is caused by an injury to the brain. Other times, it is caused by developmental anomalies of brain structure. West syndrome can also be caused by genetic mutations or metabolic disorders. In some cases, no cause can be found.
What is West syndrome?
General Discussion West syndrome is a constellation of symptoms characterized by epileptic/infantile spasms, abnormal brain wave patterns called hypsarrhythmia and intellectual disability.
What is the prevalence of West syndrome?
West syndrome is a rare neurological syndrome that can affect males and females. The X-linked form of West syndrome affects males more often than females. West syndrome has been estimated to affect .31 per 1000 live births in the United States. West syndrome accounts for approximately 30 percent of all cases of epilepsy affecting infants.
What is the age of onset for West syndrome?
Symptoms associated with West syndrome usually begin during the first year of life. The average age of onset for epileptic spasms is at 6 months. Epileptic spasms are characterized by involuntary muscle spasms that occur due to episodes of uncontrolled electrical disturbances in the brain (seizures).
What tests are used in the workup of X-linked West syndrome?
A Wood’s lamp is used to examine skin for lesions with lack of pigment in order to determine if tuberous sclerosis is a possible diagnosis. Molecular genetic testing is available for mutations in the ARX and CDKL5 genes associated with X-linked West syndrome.