Summary about Disease
Infantile spasms (IS), also known as West syndrome, is a rare and severe epilepsy syndrome that typically begins in the first year of life, most commonly between 3 and 12 months. It's characterized by brief, repetitive seizures that often involve sudden stiffening or jerking movements of the body, head, arms, and/or legs. IS is associated with developmental delay and a poor long-term prognosis if not treated promptly and effectively. Early diagnosis and treatment are critical for improving outcomes.
Symptoms
The primary symptom of infantile spasms is the occurrence of epileptic spasms, which can manifest in several ways:
Flexor spasms: A sudden bending forward of the body, neck, arms, and legs, resembling a jackknife or "salaam" position.
Extensor spasms: A sudden straightening or arching of the body, neck, arms, and legs.
Mixed spasms: A combination of flexion and extension movements. Spasms are often subtle and can be mistaken for normal startles or colic. They typically occur in clusters, meaning multiple spasms happen close together, often upon waking or after feeding. Other symptoms may include:
Developmental regression or plateau
Loss of previously acquired skills
Irritability
Changes in sleep patterns
Smiling/Social interaction decreases
Causes
Infantile spasms can be caused by a variety of factors, and in some cases, the cause remains unknown (cryptogenic). Known causes are broadly classified into two categories:
Symptomatic IS: A specific underlying brain disorder is identified. Common causes include:
Brain malformations (e.g., cortical dysplasia, tuberous sclerosis)
Genetic disorders (e.g., Down syndrome, Aicardi syndrome)
Brain injury (e.g., perinatal stroke, hypoxic-ischemic encephalopathy)
Metabolic disorders (e.g., phenylketonuria)
Infections (e.g., congenital cytomegalovirus (CMV))
Cryptogenic IS: No underlying cause is identified despite thorough investigation. These cases are presumed to be due to subtle, undetectable brain abnormalities.
Medicine Used
The primary medications used to treat infantile spasms are:
Adrenocorticotropic hormone (ACTH): This is often considered the first-line treatment, especially in cases where the cause is unknown. ACTH is an injectable hormone that is thought to work by suppressing inflammation and modulating brain function.
Vigabatrin: This is an antiepileptic drug specifically indicated for infantile spasms associated with tuberous sclerosis complex (TSC). It works by increasing the levels of GABA, a neurotransmitter that inhibits brain activity. Other antiepileptic drugs (AEDs) may be used as adjunctive therapy or in cases where ACTH and vigabatrin are not effective. These may include:
Topiramate
Valproic acid
Clonazepam In some cases, dietary therapy such as the Ketogenic Diet may be prescribed.
Is Communicable
No, infantile spasms is not a communicable disease. It is not caused by an infection that can be spread from person to person.
Precautions
Since infantile spasms is not communicable, typical infection control precautions do not apply. Precautions primarily focus on managing the condition and preventing complications:
Early Diagnosis and Treatment: The most important precaution is to seek medical attention immediately if you suspect your child is having infantile spasms. Early diagnosis and treatment can improve the child's developmental outcome.
Medication Adherence: If your child is prescribed medication, it is crucial to follow the doctor's instructions carefully and administer the medication as prescribed.
Monitoring for Side Effects: Be aware of the potential side effects of medications and report any concerns to the doctor.
Developmental Support: Provide your child with early intervention services and therapies to support their development.
Seizure Precautions: Learn about seizure first aid and take precautions to protect your child during a seizure (e.g., protecting their head, avoiding placing anything in their mouth).
Genetic Counseling: If there is a family history of seizures or genetic disorders, genetic counseling may be recommended.
How long does an outbreak last?
Infantile spasms do not have "outbreaks" in the sense of infectious diseases. The duration of the spasms themselves can vary. If untreated, they can persist for weeks, months, or even years. However, the goal of treatment is to stop the spasms as quickly as possible. Early and effective treatment significantly improves the chances of remission. Even with successful treatment of the spasms, there may be continued need for care for developmental delays and/or other seizure disorders.
How is it diagnosed?
Infantile spasms are diagnosed based on a combination of factors:
Clinical History: The doctor will ask about the child's symptoms, including the frequency, duration, and characteristics of the spasms.
Electroencephalogram (EEG): This is a crucial diagnostic test that measures brain electrical activity. In infantile spasms, the EEG typically shows a characteristic pattern called hypsarrhythmia, which is a chaotic and disorganized pattern of brain activity. The hypsarrhythmia pattern may not always be present, so repeat EEGs may be needed.
Neurological Examination: The doctor will assess the child's neurological function, including muscle tone, reflexes, and developmental milestones.
Brain Imaging: Magnetic resonance imaging (MRI) of the brain is often performed to look for underlying structural abnormalities.
Genetic Testing: Genetic testing may be performed to identify underlying genetic causes of the spasms.
Metabolic Testing: Blood and urine tests may be done to rule out metabolic disorders.
Timeline of Symptoms
The timeline of infantile spasms typically unfolds as follows:
Onset: Usually between 3 and 12 months of age, with the peak onset around 4-6 months.
Initial Spasms: Spasms are often subtle at first and may be mistaken for normal movements or colic.
Increased Frequency: The frequency and intensity of the spasms usually increase over time. Spasms often occur in clusters, especially upon waking or after feeding.
Developmental Regression: As the spasms worsen, developmental regression or plateau becomes apparent. The child may lose previously acquired skills, such as sitting, babbling, or reaching for objects.
Diagnosis and Treatment: Diagnosis is often delayed due to the subtle nature of the initial spasms. Early diagnosis and treatment are crucial to improve outcomes.
Post-Treatment: Even after successful treatment of the spasms, developmental delays and other neurological problems may persist. Long-term follow-up with a neurologist and developmental specialists is essential.
Important Considerations
Early Intervention is Key: The earlier infantile spasms are diagnosed and treated, the better the chances of a positive outcome.
Developmental Prognosis: Infantile spasms are associated with a high risk of developmental delays, intellectual disability, autism spectrum disorder, and other neurological problems.
Associated Conditions: Infantile spasms can be associated with other seizure disorders, such as Lennox-Gastaut syndrome.
Parental Support: Caring for a child with infantile spasms can be challenging. Parents need emotional support and access to resources to help them cope with the condition.
Differential Diagnosis: It is important to differentiate infantile spasms from other conditions that can cause similar symptoms, such as benign myoclonus of infancy or gastroesophageal reflux.
Research: Ongoing research is focused on identifying new causes and treatments for infantile spasms.