West Syndrome

West Syndrome, also known as Infantile Spasms (IS), is a form of epilepsy predominantly affecting infants. Infantile Spasms Iwas coined after the physician who first identified it. It encompasses various terms such as , X-linked Infantile Spasm Syndrome, Lightning Spasms, Tonic spasms with clustering, Hypsarrhythmia, Generalized flexion epilepsy, Infantile epileptic encephalopathy, Infantile myoclonic encephalopathy, Massive myoclonia, Salaam or jerk knife spasms.

It was first described by Dr. William James West in 1841. West syndrome has since been a subject of extensive research and clinical investigation. Early observations of the condition paved the way for understanding its clinical features and management strategies.

Symptoms

Symptoms of Infantile Spasms manifest primarily through seizures, occurring in short bursts termed clusters. These seizures can be alarmingly frequent, with up to 150 episodes within a single cluster and as many as 60 clusters occurring daily. While clusters are typical, some infants may initially experience isolated seizures.

Beyond seizures, infants with West Syndrome may exhibit additional signs including

• irritability
• decreased appetite
• alterations in sleep patterns such as increased daytime sleepiness and reduced nocturnal sleep,
• apparent vision impairments
• developmental delays
• regression.

West Syndrome is a rare condition, affecting fewer than 6 in 10,000 infants, typically emerging before the age of one, often between the fourth and eighth months, with a slight predominance in males.

Various factors can contribute to the development of Infantile Spasmse, including genetic mutations, metabolic disorders, abnormal brain development or structure, brain injury resulting from oxygen deprivation, other forms of brain trauma, or brain infections.

Classification of West Syndrome is based on the underlying cause:

1. Symptomatic: Occurs when another condition triggers West Syndrome, with the primary condition being identified by medical professionals.
2. Cryptogenic: In this type, the cause is suspected to be another underlying condition, although it remains unidentified.
3. Idiopathic: Characterized by typical infant development prior to the onset of Infantile Spasms, with the cause remaining unknown.

Diagnosis of West Syndrome

Diagnosing West Syndrome involves a comprehensive evaluation by your child’s physician, typically starting with a detailed account of the seizures observed. It’s beneficial to capture a video of the seizures before the medical appointment, as this visual aid can assist the doctor in understanding the nature of the seizures. This step is crucial because Infantile Spasms symptoms can sometimes be mistaken for colic.

Once seizures are confirmed, an electroencephalogram (EEG) is conducted to monitor the electrical activity in the brain. This test helps differentiate West Syndrome from other seizure disorders by identifying specific patterns.

Diagnostic procedures for West Syndrome may include:

1. EEG Testing: Initially performed while the child is awake, the EEG provides insights into brain activity. If the initial EEG doesn’t reveal expected patterns, a follow-up EEG during sleep may be recommended.
2. Imaging Scans (MRI or CT): These scans help locate the specific brain regions affected by seizures and can also rule out other potential underlying conditions contributing to the seizures.
3. Urine, Blood, or CSF Tests: These tests are conducted to identify potential causes of West Syndrome, including metabolic disorders or genetic abnormalities. Gene tests may be performed to identify any genetic factors contributing to the condition.

By combining information from these diagnostic tests, healthcare professionals can accurately diagnose West Syndrome and develop an appropriate treatment plan tailored to the individual needs of the child.

Treatment of West Syndrome

The treatment for West Syndrome aims to effectively manage seizures, employing various strategies such as medication, dietary adjustments, and in some cases, surgical intervention. Here’s a breakdown of the treatment options:

1. Medication:
   • ACTH (adrenocorticotropic hormone), vigabatrin (Sabril), and steroids like prednisone are commonly prescribed medications for West Syndrome. These medications help in reducing the frequency and intensity of seizures.
   • Approximately two-thirds of infants treated with ACTH or vigabatrin experience a reduction in seizures, although it may take a day or two for these treatments to take effect.
   • However, these medications can have side effects, including a weakened immune system, high blood pressure, digestive issues, crankiness, and sugar in the urine. Vigabatrin may also lead to permanent changes in vision, sleepiness, shaking, vomiting, constipation, and abdominal pain.
2. Alternative Medications:
   • If initial medications are ineffective, benzodiazepines like Clobazam, Rufinamide, Topiramate, Valproic acid, or Zonisamide may be considered as alternative options.
3. Ketogenic Diet:
   • A ketogenic diet, high in fats and low in carbohydrates, may be recommended under medical supervision. This diet may require the use of ketogenic formula alongside breastfeeding and typically involves hospital admission to initiate the process.
   • Side effects of the ketogenic diet may include kidney stones, dehydration, and constipation, necessitating close monitoring by both parents and medical professionals.
4. Surgery:
   • Surgical intervention may be necessary if brain scans reveal lesions or abnormalities. Procedures such as corpus callosotomy, or split-brain surgery may be performed to sever the connection between the two halves of the brain, reducing the spread of seizure signals.
   • Doctors may perform surgery to treat underlying conditions such as tuberous sclerosis complex, where cancerous tumors affect brain function. Surgeons may consider resection surgery to remove affected brain tissue in such cases
5. Developmental Therapies:
   • Children with West Syndrome may benefit from developmental therapies such as occupational therapy and the use of postural aids to address any associated developmental delays.

Treatment for West syndrome is tailored to each child’s specific needs, with close monitoring of both seizure activity and any potential side effects of treatment interventions. Collaboration between parents, healthcare providers, and specialists is essential in managing this condition effectively.

Outlook

The outlook for individuals with West Syndrome varies depending on several factors, including the underlying cause and the child’s developmental trajectory prior to the onset of the condition. Here’s what to expect:

1. Seizure Resolution:
   • In many cases, the spasms associated with West Syndrome cease by the time the child reaches 4 years of age. However, it’s common for individuals with Infantile Spasms to develop other forms of epilepsy or seizure disorders later in life.
2. Impact on Development:
   • West Syndrome can significantly impact a child’s cognitive development and intellectual abilities. The severity of these challenges is influenced by the cause of the syndrome and the child’s developmental status before its onset.
   • Children who were progressing normally before the onset of West Syndrome may retain their cognitive abilities or experience only mild intellectual disabilities.
   • Conversely, if West Syndrome stems from a brain disorder or injury, the child is more likely to face more profound developmental challenges.
3. Mental Disabilities and Learning Difficulties:
   • Babies affected by West Syndrome typically face mental disabilities or learning difficulties later in life. However, up to 20% of individuals may exhibit typical mental skills or only mild intellectual disabilities.
4. Associated Conditions:
   • Approximately 70% of babies with West Syndrome experience severe mental disabilities, with some developing autism, especially if the syndrome is associated with the tuberous sclerosis complex.
   • Hyperactivity is also common, making it challenging for affected individuals to remain still or concentrate.
5. Mortality:
   • While rare, some children who have West syndrome may pass away before reaching adulthood, typically before the age of 10.
6. Factors Affecting Normal Development:
   • Several factors may increase the likelihood of a child developing normally, including the age at which they developed West Syndrome (ideally after 4 months), the absence of unusual seizures, normal EEG readings, and prompt initiation of treatment following diagnosis.

In the Long Term:

• The long-term prognosis hinges on the underlying cause of West Syndrome. Children whose syndrome results from injuries, infections, or conditions like tuberous sclerosis complex may face greater challenges.
• West Syndrome patients have a better chance of leading a somewhat normal life if the condition has no known etiology and the kid developed normally before it manifested. This is especially true if therapy is started as soon as possible.

Getting Support:

• Parents of children with West Syndrome can seek or offer support through resources such as the Infantile Spasms Project, an online forum provided by the David Geffen School of Medicine at the University of California, Los Angeles.

Sources

• National Organization for Rare Disorders:
• Medscape: “Infantile Spasm
• National Institutes of Health, Genetic and Rare Disease Information Center
• Epilepsy Foundation:
• Epilepsia
• Medical Home Portal: “Infantile Spasms.”
• Institute for Child Development:
• Epilepsy Action
• Cedars Sinai:
• Translational Pediatrics: “Management of infantile spasms.”
• National Institutes of Health Genetics Home Reference: “Tuberous sclerosis complex.”
• Infantile Spasms Project: “Support.”