Infantile spasms in babies with down syndrome cedars story. According to the child neurology foundation, 70 percent of infantile spasms have a. Sie center for down syndrome at childrens hospital colorado examines the relationship between infantile spasms and down syndrome in hopes of improving diagnosis and treatment. Learn the symptoms of infantile spasms or west syndrome. West syndrome is a constellation of symptoms characterized by. These are the frequencies recommended for west syndrome, infantile spasm. My son was diagnosed with infantile spasms at 5 months old and was started on acth for 1 week before the seizures stopped. It is estimated that 5% of persons affected by ds have seizures. Download epilepsy, infantile spasms, and developmental encephalopathy, volume 49. Infantile spasm west syndrome clinical presentation. Therefore, we evaluated the clinical, neuroimaging and electrophysiological data in our ds with is patient cohort, with a. Infantile spasms west syndrome epilepsy foundation. West syndrome appears in 1% to 5% of infants with down syndrome.
Infantile spasms last a few seconds and can recur many times. Infantile spasms is a disorder caused by a brain abnormality or injury that can occur before or after birth. Infantile spasm video, a prognosis, and what symptoms your. Infantile spasms in children with down syndrome ncbi. We recommend all parents watch the videos posted on infantile spasms. To evaluate infantile spasms in children with down syndrome including assessment of efficacy of treatments, presence of treatment lag, and to identify risk. Infantile spasms is or west syndrome ws is the most frequent epilepsy syndrome in children with ds.
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. I had a mother reach out to me and suggest that a topic i might want to explore on the site was the topic of infantile spasms and down syndrome i am in a number of facebook groups for parents of children with down syndrome and this was not a term unfamiliar to me, however, the extensive research that would be done by a mom in this situation was not. An epileptic spasm is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood often called west syndrome. To evaluate infantile spasms in children with down syndrome including assessment of efficacy of treatments, presence of treatment lag, and to identify risk factors that may predict the occurrence of infantile spasms in this population. Infantile spasms can occur in children with down syndrome and typical children alike. Patients we report three cases of patients with down syndrome, infantile spasms, psychomotor delay and a nonhypsarrhythmic epileptic eeg record. Infantile spasms and down syndrome our journey through life. Epilepsy in children with down syndrome springerlink. The main symptoms of infantile spasms, also called west syndrome, are seizures and spasms. Spasms, neurodevelopmental regression and hypsarrhythmia on electroencephalogram eeg basically define ws. Aug 04, 2017 infantile spasms is a disorder caused by a brain abnormality or injury that can occur before or after birth. Infantile spasms is, or west syndrome, one of the most recognized types of epileptic encephalopathy, constitutes a distinct and often catastrophic form of epilepsy of early infancy. Infantile spasms is a catastrophic childhood seizure disorder for which few animal models exist.
The website, noahs dad, belongs to william, the father of a child with down syndrome who. Some of the causes happen before a baby is born prenatal and some happen after birth postnatal. Infantile spasms in children with down syndrome national down syndrome congress. Infantile spasms in children with down syndrome sage journals. Etiology and pathogenesis of infantile spasms uptodate. Infantile spasms is characterized by subtle seizures which can have large neurological effects, potentially leading to developmental delays and cognitive and physical. The doctors seem to think that he would grow out of this asa well. Almost any disorder that can produce brain damage can be associated with infantile spasms. A diagnosis that can be missed in children with down syndrome. Any condition that damages the brain can cause infantile spasms, also called west syndrome. The international league against epilepsy commission classifies the aetiologies of ws into genetic, structural, metabolic and unknown. Infantile spasms aicardi syndrome video dailymotion. Be prepared to show your doctor a video of your babys movements that made you suspect is.
The term infantile spasms can be used for infants with west syndrome and infantile spasms collectively. Infantile spasms awareness network video, produced by the child neurology foundation infantile spasms is a rare and particularly severe epilepsy syndrome that typically begins within the first year of life. Infantile spasms and lennoxgastaut syndrome are rare but are important to child neurologists because of the intractable nature of the seizures and the serious neurologic comorbidities. In the other 60% to 70% of children, infantile spasms are caused by an identifiable underlying condition, such as. The disorder presents with a unique seizure type, infantile spasms, which may be characterized by flexor, extensor, and mixed flexorextensor spasms. Many parents and caregivers worry about how their baby developed infantile spasms is. Wests syndrome infantile spasms are also known as salaam spasms.
Infantile spasms information page national institute of. Three patients in this series were mentioned in the oral communication myoclonic epilepsy in down syndrome and alzheimer disease, presented during the 64th annual meeting of the spanish society of neurology barcelona, november 2012. 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. Epileptic spasms, is an uncommontorare epileptic disorder in infants, children and adults. Like you, many families have found themselves looking for information and videos to help their children who have been diagnosed with infantile spasms is. The previous studies on infantile spasms in children with down syndrome were limited to a small number of investigations with no more than 17 patients. The spasms usually begin when the baby is between three and eight months of age.
According to medical records, this type of syndrome is diagnosed in one among 3000 children. The spasms, characterized by a stiffening of the extremities. She discusses how this type of seizure can be misdiagnosed and the value of catching the diagnosis early. Epileptic spasms sometimes called infantile spasms, west syndrome or. Epileptic spasms must be associated with a psychomotor regression and electroencephalography eeg hypsarythmia to make the diagnosis of west syndrome. The united kingdom infantile spasms study ukiss study, the american academy recommendations, and the cochrane meta.
West syndrome ws, also known as infantile spasms, occurs in infancy with a peak between 4 and 7 months. The spasms are refractory to treatment with most antiepileptic drugs, but exquisitely sensitive to treatment with acth or vigabatrin 23. Mar 06, 2019 i had a mother reach out to me and suggest that a topic i might want to explore on the site was the topic of infantile spasms and down syndrome i am in a number of facebook groups for parents of children with down syndrome and this was not a term unfamiliar to me, however, the extensive research that would be done by a mom in this situation was not something i was yet familiar with. Infantile spasms in down syndrome effects of delayed. The average age of onset is around four months, but some children may experience spasms as early as one month, and a few may. West syndrome is the most frequent cause of epilepsy in down syndrome. Myoclonic epilepsy in down syndrome and alzheimer disease. Medical treatment of infantile spasms should be effective and initiated as early as. It is named after the english physician, william james west 17931848, who first described it in an article published in the lancet in 1841. Infantile spasms awareness week 2019 cure epilepsy. Infantile spasms in down syndromeeffects of delayed. Children with down syndrome are highly susceptible to infantile spasms. When you speak with office staff or the doctor, tell them you suspect your baby has infantile spasms.
Autoplay when autoplay is enabled, a suggested video will automatically play next. A longterm followup study of 214 children with the syndrome of infantile spasms. Infantile spasms is is a seizure disorder in babies. Children with down syndrome frequently develop infantile spasms is. It is well known that the incidence of major forms of epilepsy is higher in children with down syndrome than in.
In 30% to 40% of children with is, there is no identifiable cause. Down syndrome, now infantile spasms mom answers babycenter. More than 50 geneticmetabolic diseases are associated with infantile spasms, and many patients have other disorders that cause developmental delays e. Child with down syndrome diagnosed with infantile spasms. Jan 26, 2019 a down syndrome diagnosis can sometimes come with an increased risk of other more rare disorders. To evaluate infantile spasms in children with down syndrome including assessment of efficacy of treatments, presence of treatment. Oct 08, 2012 our son who was born with down syndrome was making some strange gestures and so we took him to have an eeg. Infantile spasms merck manuals professional edition. However, in children with down syndrome, the syndrome is often far more. After youve noticed the symptoms of infantile spasms is, your first step will likely be to visit your childs pediatrician or the emergency room. Early clinical and eeg features of infantile spasms in down syndrome. This form of epilepsy is relatively difficult to treat in children who do not have the chromosomal abnormalities involved in down syndrome. Babies born with down syndrome have an increased risk of certain health disorders, one of those being the rare case of infantile spasms, a treatable condition that should be caught early. Though this disorder is very rare, there is an increased risk of infantile spasms in babies with down syndrome.
Prenatal conditions including hydrocephalus, microcephaly, sturgeweber syndrome, tuberous sclerosis. Clinical case infantile spasms and down syndrome table 1 summarizes the clinical features, eeg patterns, neuroimaging results, treatments, and progress. It is well known that the incidence of major forms of epilepsy is higher in children with down syndrome. The authors retrospectively identified 17 children with down syndrome who developed infantile spasms, and analysed their etiology, eeg findings, response to medication, development and prognosis. The ts mouse contains the core genomic triplication of the ds critical region, which includes 3 copies of the kcnj6 gene that encodes the gabab rcoupled g protein. The uk infantile spasms trust ukist the uk infantile spasms trust ukist provides a network of support to families with children affected by the rare seizure disorder infantile spasms, also known as west syndrome.
Infantile spasms are the most common type of seizures and usually are well controlled with steroids and antiepileptic drugs. Summary of recommendations for the management of infantile. Jan 11, 2019 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. Watch as a few of them describe their experiences with identifying the disorder and completing treatment with acthar. Some of the causes happen before a baby is born prenatal and. It has been shown that up to 30% of children who develop lgs have a history of infantile spasms. Noahs dad a popular blog by a dad of a boy with down syndrome had some wonderfully informative information with video on his site. Infantile spasms are seizures characterized by sudden flexion of the arms, forward flexion of the trunk, extension of the legs, and hypsarrhythmia on electroencephalography. The eeg may not show typical hypsarrhythmia because the spasms have been going on for some time, or because medication has changed the eeg or because the condition which put the child at risk. Therefore, we evaluated the clinical, neuroimaging and electrophysiological data in our ds with is patient cohort, with a relatively long followup duration, to. There may be an underlying structural brain abnormaly hie, perinatal stroke, neuronal migration disorder etc, genetic disorder downs synd, tuberous sclerosis, gene.
Epileptic spasms in children downs syndrome association. The condition of west syndrome generally arises due to the combination of three different conditions of infantile spasms, an interictal electroencephalogram eeg pattern termed hypoarrhythmia, and mental retardation. Infantile spasms in children with down syndrome request pdf. 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.
Around 400 children a year are diagnosed with infantile spasms in the uk. Rating is available when the video has been rented. The following are links about infantile spasms in children with down syndrome that williams family found helpful. West syndrome is is characterized by epileptic spasms, developmental problems, and a specific brain wave pattern on electroencephalography eeg testing called hypsarrhythmia. Infantile spasms in down syndrome effects of delayed anticonvulsive treatment. Down syndrome, now infantile spasms we didnt find out our son had down syndrome until after he was born and we just found out this week that he also has infantile spasms. Down syndrome ds is the most common genetic cause of mental retardation. Treatment outcomes of west syndrome in infants with down.
West syndrome is a constellation of symptoms characterized by epileptic spasms, an abnormal electroencephalogram eeg pattern called. Treatment is adrenocorticotropic hormone or sometimes vigabatrin. Lujic l1, bosnjak vm, delin s, duranovic v, krakar g. Do infantile spasms occur in older children and adults. Babies also might have slowed development or loss of skills like babbling, sitting, or crawling. Infantile spasms iss are one of the most undiagnosed but treatable neurological conditions, often missed or misdiagnosed by primary care or emergency medical providers, potentially leading to delay of intervention or neurodevelopmental consequences. Sometimes the specialists will ask to video the child during the eeg to.
Longterm outcome of symptomatic infantile spasms established by video electroencephalography eeg monitoring. West syndrome nord national organization for rare disorders. Neurodevelopmental outcomes in children with down syndrome. In approximately 50 per cent of cases, the cause of infantile spasms is not known, in the other 50 per cent, there are many different conditions affecting the brain, such as birth injury, meningitis or head trauma, which can cause this type of epilepsy. Technically speaking, maddie has lennoxgastaut syndrome lgs, a severe form of epilepsy that strikes about 26 in 100,000 kids a year. If youre looking for some trusted information about infantile spasms, these links would be a great place to start. A video made to raise awareness of a rare form of child epilepsy called infantile spasms west syndrome. Epileptic spasms, however, is one of the few infantile epilepsy conditions for which there are insufficient data to allow stronger recommendations to be made.
High infantile spasm risk should contraindicate sodium. The website, noahs dad, belongs to william, the father of a child with down syndrome who had infantile spasms. Infantile spasms is a rare condition that occurs in young children, usually under the age of one. The sounds are crystal bowls tuned with water to these frequencies, each one about five minutes. Infantile spasms is is one of the classical epileptic encephalopathies occurring in 2. To investigate the impact of treatment lag in infantile spasms is on treatment response, occurrence of later epilepsy, and longterm cognition and behavior in patients with one single etiological entity, we examined 18 patients with down syndrome ds and earlier is retrospectively followup period of 32180 months with a mean of 85. Ds is the most common genetic cause of mental retardation mr with a reported prevalence of epilepsy of 1%. New antiepileptic drugs offer more alternatives for treating both infantile spasms and lennoxgastaut syndrome. The seizures or spasms make muscles in the arms and legs stiff and bend the babys head forward. Infantile spasms are a type of seizure that can happen in children with down syndrome between the ages of 5 and 10 months. The prevalence of seizure in individuals with ds is 1 to %, and infantile spasm is occurs in 6 to 32% of those with seizures. Were going to try a week of vitamin b6 to see if itll help.