West syndrome, or infantile spasms syndrome is a frequently catastrophic infantile epileptic encephalopathy with a variety of etiologies. Acthar for infantile spasms commonly asked questions about treatment important safety information acthar is given as an injection into the muscle. Though over 200 etiologies have been associated with this disorder, many cases remain unexplained. A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. At most recent followup median age, 5 years, 812 67% were seizurefree. There may be an underlying structural brain abnormaly hie, perinatal stroke, neuronal migration disorder etc, genetic disorder downs synd, tuberous sclerosis, gene mutations or other.
Infantile spasms also known as west syndrome is a form of epilepsy that occurs in 1 in 2,000 children. The sooner your little one starts treatment for infantile spasms or west syndrome, the better, because this condition can affect how his mind and body develop. Infantile spasms is one of the catastrophic childhood epilepsies because of the difficulty in controlling seizures and the association with mental retardation. The seizures are characterised by an initial contraction phase followed by a more sustained tonic phase. 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. If you are seeing the symptoms of is, the most important words to say are, i think my child could be showing signs of infantile spasms. Metabolic testing may include acylcarnitine profile, total and free carnitine. West syndrome, or infantile spasms syndrome is a frequently catastrophic infantile. In most cases, the mortality is seen to be a result of the underlying neurological cause of the infantile spasms. Infantile spasm is a catastrophic form of epilepsy found only in infants and young toddlers 1. West syndrome consists of infantile spasms with hypsarrhythmia and is. Infantile spasms usually stop by age five, but may be replaced by other seizure types. Up to 15 antiepileptic drugs did not render any patient spasm free. Children with is typically exhibit epileptic spasms along with.
Despite the heterogeneous nature of causes of infantile spasms, a careful diagnostic evaluation can lead to diagnosis in many patients and may guide treatment choices. In 14% to 38% of cases, infantile spasms are cryptogenic, without identifiable underlying cause. West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram eeg pattern termed hypsarrhythmia, and mental retardation, although the diagnosis can be made even if 1 of the 3 elements is missing according to the international classification. Pediatricians, pediatric neurologists, and other pediatric health care providers are all potentially key early contacts for families who have an infant with is. Infantile spasms also known as west syndrome are an agespecific epilepsy of early infancy and are distinct from myoclonic and tonic seizures. Infantile spasms in remission may reemerge as intractable. According to the child neurology foundation, 70 percent of infantile spasms have a. Infantile spasms are seizures characterized by sudden flexion of the arms, forward flexion of the trunk, extension of the legs, and hypsarrhythmia on electroencephalography.
To update the 2004 american academy of neurologychild neurology society practice parameter on treatment of infantile spasms in children. Other names for it are generalized flexion epilepsy, infantile. They can be divided into flexor, extensor, and mixed flexorextensor spasms. Infantile spasms is is a rare seizure disorder that occurs in young children, usually under one year of age. Infantile spasm is is a distinctive disorder, which affects the individual during infancy and early childhood. Infantile spasms is is a rare epileptic disorder occurring in children under the age of one that can often lead to severe developmental delays throughout life. Treatment of infantile spasms texas childrens hospital. Infantile spasms merck manuals professional edition.
Longterm followup study of vigabatrin in pretreated children with. Acthar is a prescription medicine that is used to treat infantile spasms in infants and children under 2 years of age. Commonly asked questions about treatment acthar is. Infantile spasms are the characteristic seizure type of wests syndrome infantile spasms, developmental plateau, and hypsarrhythmia. Research into the etiology of is has implicated causes such as exposure to prenatal. Age of onset is typically from 1 month to 1 year with a median age of 3 to 5 months. Pdf symptomatology of infantile spasms akihisa okumura. West syndrome is a severe form of encephalopathy that typically affects infants younger than 2 years old.
The seizures may be resistant to treatment, and the syndrome frequently is associated with mental retardation. Although infantile spasms may appear subtle, the neurodevelopmental consequences are devastating including intellectual disability, autism, and subsequent epilepsy in up to 70% of children. Babies also might have slowed development or loss of. View a patient care online webinar on infantile spasms that discusses causes of infantile spasms,the importance of early recognition, and the differences between infantile spasms and febrile seizures. These are more commonly called infantile spasms is since they are seen most often in the first year of life. The average age of onset is around four months, but some children may experience spasms as early as one month. Only about 2,500 children in the us are diagnosed each year with is.
The seizures or spasms make muscles in the arms and legs stiff and bend the babys head forward. However, early recognition, a careful diagnostic evaluation, and proper treatment may allow some children to. Take the guesswork out of dosing for infantile spasms the convenient and complete way to calculate the dosage of acthar gel for the treatment of infantile spasms is, from perinjection volume to number of vials needed. Do not inject it under the skin or into a vein, or give it to your child by mouth. It is named after the english physician, william james west 17931848, who first described it in an article published in the lancet in 1841.
West syndrome is a type of epilepsy that affects babies. Usually provoked by one of many structural, genetic, or metabolic etiologies, is manifests with clusters of a distinct seizuretype spasms, and is often accompanied by an electroencephalography eeg pattern known as. Infantile spasms last a few seconds and can recur many times. While these seizures may last only a second or two, they usually occur close together with each spasm occurring every 510 seconds in a series. Infantile spasms is represent a major therapeutic challenge, as cessation of spasms and normalization of the electroencephalogram elimination of. Infantile spasms is is an uncommon but often devastating form of epilepsy that typically strikes children in the first year of life shields, 2006.
Other types of seizures and epilepsy may be seen over time in many children. Infantile spasms information page national institute of. An infantile spasms working group iswg of 14 pediatric neurologists with expertise in is participated in a 2day workshop to discuss 1 the current state of is management, 2 the evidence for efficacy of acth and vigabatrin vgb, approved in the us in 2009, and need for additional alternatives, and 3 to develop protocols as a guide for the diagnostic workup and. The spasms are characterized by symmetric, bilateral, brief, and sudden contractions of the flexor or extensor muscle groups. It typically begins between 212 months of age and peaks between 48 months of age. West syndromeis is characterized by epileptic spasms, developmental problems, and a specific. Infantile spasms is is an agespecific epileptic disorder of infancy and early childhood. The premature death rate for infantile spasm ranges from 531%.
Is are characterized by the developmental onset of flexion or extension limb and trunk spasms, accompanied by electrodecremential responses and a disorganized highamplitude background, i. The diagnosis, management and understanding of infantile spasms or west syndrome can be complicated. Treatment of infantile spasms in infants and children under 2 years of age. Selected syndromes eg, aicardi syndrome, down syndrome, etc and inherited disorders eg, tuberous sclerosis may. Factors for a favorable outcome in infantile spasms. Randomized trial of vigabatrin in patients with infantile spasms. Children with is typically exhibit epileptic spasms along with the electroencephalographic eeg pattern known as hypsarrhythmia.
An international collaborative multicentre study iciss. The original case actually described his own son, james edwin west 18401860. They typically begin between 3 and 8 months of age. It was the morning before the surgery, in the waiting room. Almost all infantile spasms start by 12 months of age and usually stop by 4 years old.
Infantile spasms is is one of the classical epileptic encephalopathies occurring in 2. Treatment is adrenocorticotropic hormone or sometimes vigabatrin. The etiology of infantile spasms is unknown for 40% to 50% of affected children. They are characterized by an initial contraction phase followed by a more sustained tonic phase. Epileptic spasms, is an uncommontorare epileptic disorder in infants, children and adults. An epileptic spasm is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood often called west syndrome. Infantile spasms is a disorder caused by a brain abnormality or injury that can occur before or after birth. It will be made freely available on the internet where it may be kept more up to date than is possible in the printed version. Onset is before one year of age, with a peak incidence occurring between 4 to 7 months of age. Treatment for infantile spasms acthar gel repository. Of the children followed up, 51% were seizurefree and 37% had a normal eeg at the 3year followup. Pdf objective infantile spasm is is a convulsive disease characterized by brief, symmetric axial. Medline and embase were searched from 2002 to 2011 and searches of reference lists of retrieved articles were performed. However the proportion of infants free of spasms at the final clinical assessment 1214 months after treatment onset was similar in both treatment groups 23.
Most of the deaths 61% occurred at or before age 3 years, while only 10% occurred after age 20 years. Infantile spasm west syndrome clinical presentation. Infantile spasms west syndrome epilepsy foundation. Treatment outcomes of west syndrome in infants with down.
Infantile spasms and early immunization against whooping cough. In one trial comparing vigabatrin and hydrocortisone in infantile spasms due to. Infantile spasms is is a seizure disorder in babies. Get a printable copy pdf file of the complete article 984k. Steroids, acth and vigabatrin are the primary treatments.
Most children have developmental disabilities later in life. Perhaps no more worrisome neurologic disorder exists because of its frequent association with delayed development and cognition at such a young age. Infantile spasms west syndrome presentation severe form of epileptic encephalopathy with forceful spasms in first few months of life, arising from range of underlying etiology that affect the outcome. Infantile spasms west syndrome is an epilepsy condition affecting 1 in 2000 infants. Treatment responders were those who were free of infantile spasm for 7 consecutive days beginning within the first 14 days of vigabatrin therapy. Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to is, making it important to identify the underlying.
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