The Epilepsy Institute of New Jersey is a team of board-certified neurologists and neurosurgeons who provide expert care for a variety of pediatric neurological conditions, including West syndrome (infantile spasms). Our team uses advanced diagnostic tools and innovative treatment techniques to ensure the best outcomes for your child.
The Physical Impact
West syndrome, also known as infantile spasms, is a rare but serious form of epilepsy that typically occurs in infants between the ages of 3 and 12 months. It is characterized by sudden and severe muscle spasms, often in clusters, that can lead to developmental regression and cognitive delays if left untreated. These spasms commonly involve the neck, trunk, and limbs, and can be very distressing for both the child and their family. Early intervention is essential to reduce the risk of long-term developmental issues and improve the quality of life for the child.
How Common Is This Condition?
West syndrome is relatively rare, occurring in approximately 1 in 2,000 to 1 in 3,000 infants. It is more commonly diagnosed in the first year of life, with the majority of cases presenting between 4 and 8 months of age. While it is a rare form of epilepsy, it can have significant developmental and neurological consequences if not treated promptly. West syndrome is associated with various underlying causes, including genetic conditions, brain malformations, and metabolic disorders, though sometimes no specific cause can be identified.
Risk Factors:
- Brain malformations: Abnormalities in brain development, such as cortical dysplasia or structural lesions, may increase the risk of infantile spasms.
- Genetic factors: Some genetic syndromes, such as Tuberous Sclerosis or Rett Syndrome, are associated with a higher risk of developing West syndrome.
- Prematurity: Premature infants are at a higher risk of developing infantile spasms due to brain immaturity.
- Metabolic disorders: Conditions like hypoglycemia, mitochondrial disorders, or certain inborn errors of metabolism can trigger infantile spasms.
- Birth injury: A history of brain injury at birth, such as lack of oxygen or trauma, may increase the risk.
Signs and Symptoms
Infantile spasms often present with sudden jerking or stiffening movements that occur in clusters, typically after the child wakes from sleep. The seizures may affect different parts of the body and can include:
- Jerking movements: Sudden, brief muscle contractions that cause the child to bend forward or backward, often involving the arms, legs, and trunk.
- Head nodding: Rapid nodding or bobbing of the head, often occurring in clusters.
- Stiffening of the body: A brief stiffening of the arms or legs may occur, followed by relaxation.
- Crying or irritability: Some infants may become fussy or agitated during or after a spasm.
- Developmental regression: A child with infantile spasms may lose previously acquired developmental milestones, such as sitting up, crawling, or babbling.
- Delayed motor skills: Difficulty with basic movements, such as rolling over or lifting the head, may be evident.
How We Diagnose
At the Epilepsy Institute of New Jersey, diagnosing West syndrome begins with a thorough assessment of your child's medical history, seizure activity, and developmental progress. Our diagnostic steps often include:
- EEG (Electroencephalogram): The key diagnostic tool for West syndrome, which shows a characteristic pattern of abnormal brain activity called hypsarrhythmia. This chaotic, high-voltage brain wave pattern is typical of infantile spasms.
- MRI or CT Scans: Brain imaging can help identify any underlying structural abnormalities or lesions in the brain that may be causing the spasms.
- Metabolic and Genetic Testing: Blood tests and genetic screenings can help identify any metabolic or genetic conditions that may be contributing to the seizures.
- Clinical History: A detailed review of the child's seizure onset, frequency, and any associated symptoms (such as developmental delays) is crucial in confirming the diagnosis.
Through these diagnostic tools, we can confirm a diagnosis of West syndrome and develop a treatment plan tailored to your child's specific needs.
Treatment Options
Early treatment of West syndrome is essential to reduce the risk of developmental delays and improve seizure control. The primary goals of treatment are to stop the spasms, control seizures, and promote normal development. Treatment options may include:
- Corticosteroids: Medications such as adrenocorticotropic hormone (ACTH) or prednisone are often used as first-line treatments for infantile spasms, as they can help stop the spasms and reduce brain inflammation.
- Antiseizure Medications: Drugs such as vigabatrin or benzodiazepines are commonly used to control seizures in infants with West syndrome.
- Surgical Intervention: In cases where infantile spasms are caused by a brain malformation or lesion, surgery may be considered to remove the abnormal tissue or correct the underlying issue.
- Dietary Therapy: The ketogenic diet, a high-fat, low-carbohydrate diet, may be used in some cases to help control seizures in children with infantile spasms.
- Vagus Nerve Stimulation (VNS): A device that sends electrical impulses to the brain via the vagus nerve to help control seizures.
- Early Intervention and Therapy: Speech therapy, physical therapy, and occupational therapy are essential in helping your child reach developmental milestones and improve motor and cognitive function.
At the Epilepsy Institute of New Jersey, we offer a multidisciplinary approach to care, ensuring that your child receives the most effective treatment to manage infantile spasms and optimize development.
Our Commitment to Your Child's Health
“I am neurosurgeon living in New Jersey, board-certified by both the American Board of Neurosurgery (ABNS) and Pediatric Neurosurgery (ABPNS). I specialize in the surgical treatment of complex epilepsy and serve as the Director of the Epilepsy Institute of New Jersey, Chief of Pediatric Epilepsy Surgery at Sanzari Children's Hospital, and Chief of Pediatric Neurosurgery at Children's Hospital of NJ, where I provide exceptional care for children with complex neurological conditions. Your child's health and well-being are our top priorities.”
