Sandifer Syndrome: a continuing problem of misdiagnosis These findings suggest that infants or children with these atypical movements should be evaluated for Sandifer Syndrome. [3][4]Symptomatic IS can be divided into prenatal, perinatal, and postnatal. Tozzi E, Nabbout R, Dulac O, Chiron C. Infantile spasms in Down syndrome--effects of delayed anticonvulsive treatment. In: StatPearls [Internet]. Infantile spasms were described first by West in 1841 [ 1 ]. Kellaway P, Hrachovy RA, Frost JD, Zion T. Precise characterization and quantification of infantile spasms. The crucial first step is to obtain a detailed history and description of events. Advertising on our site helps support our mission. Child posturing with Sandifer syndrome. Efficacy of conservative therapy as taught in the primary care setting for symptoms suggesting infant gastroesophageal reflux. [38][39][40]Once treatment starts, continued monitoring of the patient for side effects as well as treatment effectiveness must occur. Review. If changes to your babys diet dont work, your provider may recommend treatment with anti-reflux medications, including: After anti-reflux medications start, you should notice your babys symptoms decrease over time and resolve. Vandenplas Y, Salvatore S, Hauser B. Congenital Infections: The last prenatal insult that mustbe consideredwith associations to IS is congenital infections. [28]At this time it is recommended that the ketogenic diet bean adjunct to ACTH or vigabatrin or cases refractory to treatment. Stafstrom CE, Holmes GL. Symptoms of infantile spasms It typically begins between 2-12 months of age and peaks between 4-8 months of age. Cleveland Clinic Children's is dedicated to the medical, surgical and rehabilitative care of infants, children and adolescents. [22]Lastly, as described in the definition of IS, neurodevelopmental delay with regression of motor and cognitive abilities occurs. [25][26]The characteristic EEG finding to diagnose IS is a pattern known as hypsarrhythmia. "[1]As the name indicates 90% of children affected by IS present at less than one year of age with a peak incidence of 3 to 7 months. They typically resolve by the age of 5 years , although other seizures may take their place. If the diagnosis is not clear on the initial EEG, repeat or prolonged monitoringcanbe performed 1 to 2 weeks after the initial study. Children diagnosed with Sandifers Syndrome will quite often grow out of it by 18-36mths, unless the child has severe mental impairment or similar conditions, in which case the child may continue to have spasms into adolescence. Risk factors. Kinsbourne M. Hiatus hernia with contortions of the neck. Please enable scripts and reload this page. Successful completion is defined as a cumulative score of at least 70% correct. A referral for surgery is indicated in cases of medically refractory GERD or hiatal hernia. According to the statement of West Delphi group (2004), WS . Patients with idiopathic IS have normal development before the onset of symmetric spasms, a normal examination, normal neuroimaging, and hypsarrhythmic EEG pattern without focal epileptiform abnormalities.[2]. Comorbid & Secondary Conditions Additional seizure types are seen in 30 to 50% of infants with this syndrome. Symptomatic IS is described in patients with an identified etiology and/or significant developmental delay at the time of spasm onset.[1]The identified etiologyis found in 60% to 70% of symptomatic IS cases. Children with infantile spasms typically exhibit epileptic spasms along with the electroencephalographic (EEG) pattern known as hypsarhythmia. Low birth weight is another factor that is 3 to 4 times more prominent inchildrenwith IS than that of the general population. In rare cases, your child may need a surgical procedure called Nissen fundoplication. [13]ACTH is thought to work by suppression of corticotropin-releasing hormone that in animal models was found to be an endogenous neuropeptide that provoked convulsions. When a clinician determines a nonepileptic event occurred, the upper GI tract should be evaluated. The seizures (or spasms) make muscles in the arms and legs stiff and bend the baby's head forward. Moore, Debora M. MPAS, PA-C; Rizzolo, Denise PA-C, PhD. Gaily E, Liukkonen E, Paetau R, Rekola R, Granstrm ML. Sandifer syndrome. Czinn SJ, Blanchard S. Gastroesophageal reflux disease in neonates and infants: when and how to treat. Genetic and Rare Diseases Information Center. [4], The classical symptoms of the syndrome are spasmodic torticollis and dystonia. Gremse DA. Studies suggest that an underdeveloped connection between the food pipe (esophagus) and the stomach in infants allows the stomachs contents to flow back into the food pipe, which can lead to gastroesophageal reflux disease (GERD), but research is ongoing to learn more. Pellock JM, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ, Gaillard WD, Gibson PA, Holmes GL, Nordl DR, O'Dell C, Shields WD, Trevathan E, Wheless JW. High-dose corticotropin (ACTH) versus prednisone for infantile spasms: a prospective, randomized, blinded study. (2007). Ramgopal S, Shah A, Zarowski M, Vendrame M, Gregas M, Alexopoulos AV, Loddenkemper T, Kothare SV. What type of thickener should I use to thicken breast milk/formula? Infantile Epileptic Spasms Syndrome (IESS), commonly known as West syndrome, is the most common cause of infantile-onset epileptic encephalopathy. Direct observation of the patient is beneficial. Kabakuş N, et al. When Sandifer syndrome was first recognized, it was widely believed that the posturing induced the reflux episodes, or that the posturing was the result of a tic or a purposeful behavior meant to reduce reflux and provide relief.5 Kinsbourne's initial evaluation of these children yielded conflicting results.5 The children reported a decrease in discomfort when posturing but the radiographic studies during an episode of torsion actually suggested a worsening of reflux.5, Manometry and pH studies have shown that when the head tilts, it induces an increase in esophageal motility and lowers esophageal pressure. The first line treatment for IS is hormonal therapy with corticotropin, ACTH. [36]The time to cessation of spasms after the initiation of vigabatrin is slightly longer than that of ACTH with a range from 12 to 35 days. While its often not a serious condition, it can be painful and lead to feeding problems, which can affect growth. Because of the presentation, the patient may be referred for lengthy, expensive, and unnecessary neurologic testing. There are two ways to do that: dietary changes or taking medications. Epileptic spasms is an uncommon-to-rare epileptic disorder in infants, children and adults. Babies can have . Early diagnosis is critical, as treatment is simple and leads to prompt resolution of the movement disorder. One may also note changes in respiratory patterns. 9. If after thorough metabolic evaluation as well as the epilepsy gene panel no apparent cause of IS is identified then whole-exome sequencing should be considered. Torticollis refers to involuntary movements of the neck. Early diagnosis permits prompt treatment and relief of the problem. 0 Reply / 23 ADD A COMMENT comment Follow your baby's amazing development track my baby Download the BabyCenter app More posts in "April 2010 Birth Club" group 9 The neurobehavioral posturing may be mistaken for seizures, fits, or infantile spasm. Are there side effects to the anti-reflux medications? Their body reacts with involuntary spasms to help them ease the discomfort. Go CY, Mackay MT, Weiss SK, Stephens D, Adams-Webber T, Ashwal S, Snead OC., Child Neurology Society. [28]While a patient is receiving treatment clinicians should monitor blood pressure, serum glucose, potassium and sodium,screen forcushingoid featuresand be cognizant of any signs of infection.[1]. What are the reasons for the strikingly different approaches to the use of ACTH in infants with West syndrome? Once ACTH therapy is begun the time to effectiveness with a cessation of spasms was 7 to 12 days. If your baby doesnt receive treatment and has trouble eating, they could experience long-term symptoms throughout childhood as a result of malnutrition, but this is rare. . It typically clears up by age 2, and it isn't associated with any long-term complications. Satoh J, Mizutani T, Morimatsu Y. Neuropathology of the brainstem in age-dependent epileptic encephalopathy--especially of cases with infantile spasms. So if you notice possible symptoms, see your childs doctor. The spine can arch, bending your head toward your feet & twisting your neck to one side. Symptoms The most common symptom of infantile spasms is stiffening of the body. Surgical outcomes for intractable epilepsy in children with epileptic spasms. We report the case of a 5-month-old infant with no past medical history admitted to a pediatric unit for suspicion of infantile spasms. Sandifer Syndrome, which refers to dystonic posturing of the trunk and head, described as back arching, that can occur with severe gastroesophageal reflux, and is not a true seizure . Spasms most commonly occur in infancy. It is a disorder that affects mostly those in the first year of life and is described as spasms with characteristic EEG changes known as hypsarrhythmia and a strong association with developmental delay or regression. Sandifer's syndrome is a dystonic movement disorder in infants with gastroesophageal reflux (GER). This can help your childs doctor see if there are any patterns, which can make diagnosing Sandifer syndrome easier. At first our ped diagnosed our kid with Sandifer syndrome because he had reflux and paroxysmal torticolis (alterning sides torticolis). A rather benign course is associated with spasms due to: Down's syndrome, neurobromatosis-1, periventricular leucomalacia due to prematurity, and neonatal hypoglycemia Riikonen, R. Favourable Prognostic Factors with Infantile Spasms. Mandel H, Tirosh E, Berant M. Sandifer syndrome reconsidered. [4], Sandifer syndrome is not typically life-threatening[4] and the prognosis is typically good. With continued research regarding infantile spasm and its etiologies, pathogenesis, diagnosis, and treatment the overall prognosis of IS is poor. Quick recognition of the subtle presentation of Sandifer syndrome can lead to a timely diagnosis, treatment, and near-universal resolution of this troubling condition. Infantile spasms last around one to two seconds in a series; whereas other types of seizures can last from 30 seconds to two minutes. Sandifer syndrome is a rare complication of gastroesophageal reflux disease that may be more common than reported. Please don't panic! We do not endorse non-Cleveland Clinic products or services. It causes unusual movements in a child's neck and back that sometimes make it look like. The seizures occur in a series of short spasms, about one to two seconds in length. Focal features in West syndrome indicating candidacy for surgery. Infantile spasms: diagnosis and assessment of treatment response by video-EEG. Cryptogenic IS has no identifiable causeand the following criteria: no other kind of seizures, a normal examination, a normal CT and MRI, recurrence of hypsarrhythmia between consecutive spasms of a cluster, and lack of any focal interictal or ictal EEG abnormalities. Some error has occurred while processing your request. The etiology of IS is established in 70% of cases with neuroimaging. Emergency medical physicians may also be part of care coordination as they will likely evaluate the patient initiallywhen the parents note spasms. The children without hiatal hernia who required surgery had a response rate of 100% to surgical correction. The last stage is characterized by a progressive decrease in spasm frequency and severity. Exercise and Childhood Obesity: How Effective Are School-Based Physical Activity Programs? Child Neurology Society. 12. Baram TZ, Mitchell WG, Brunson K, Haden E. Infantile spasms: hypothesis-driven therapy and pilot human infant experiments using corticotropin-releasing hormone receptor antagonists. The spasms often begin between 3 and 12 months of age and usually consist of a sudden bending forward of the body with stiffening of the arms and legs; some children arch their backs as they extend their arms and legs. 19. Infantile spasmscan be classified into two, well-known groupings of symptomatic and cryptogenic. [1]10% to 40% of patients with IS willbe classified as cryptogenic. Rasmussen's syndrome typically appears in children who are between 14 months and 14 years of age. Infantile spasms (IS) is a seizure disorder that was first described by William West in 1841 and has been referred to as West syndrome. Its important that you see your babys provider when they start showing symptoms of Sandifer syndrome to prevent malnutrition and ease your babys discomfort. [1] Infantile spasms have been evaluated for over 170 years in regards to etiology, pathogenesis, clinical features, and diagnosis. Current research using animal modelsis being performed to contribute to the understanding of the pathophysiology of IS. Some of the symptoms of Sandifer syndrome can be hard to distinguish from a neurological problem, such as epilepsy. Schmelzle R, Schwenzer N, Heller S. [Infrequently described hormonal disorders following fractures of the middle part of face]. This syndrome was first mentioned more than 50 years ago with minimal documentation in the medical literature. This is followed by a less intense, longer tonic phase lasting 2 to 10 seconds. Watanabe K. West syndrome: etiological and prognostic aspects. Guggenheim MA, Frost JD, Hrachovy RA. Nodding and rotation of the head, neck extension, gurgling sounds, writhing movements . Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome). The differential diagnosis for infantile spasm is broad including mild diagnoses such as colic, gastroesophageal reflux, spasticity, benign neonatal sleep myoclonus, or excessive startles or Moro reflexes up to more severe diagnosis. Infantile spasms usually start within the first year of life, between 4 and 8 months. This quick movement is similar to how you pull your hand away from a hot surface to avoid burning your hand. Hrachovy RA, Frost JD. There is a peculiar epidemiological profile of IESS in South Asia. You may search for similar articles that contain these same keywords or you may
Clinical signs may also include anaemia. Double-blind study of ACTH vs prednisone therapy in infantile spasms. While its symptomswhich can include sudden jerking movements resembling a seizuremay be alarming at first, it is thankfully something that can be managed with proper treatment and care. ( Characteristics include: Epileptic spasms Developmental problems The Centers for Disease Control and Prevention has released updated recommendations on its childhood vaccination schedule. [2], Sandifer syndrome was first described in 1964 by Austrian neurologist Marcel Kinsbourne in The Lancet. Hayashi M, Itoh M, Araki S, Kumada S, Tanuma N, Kohji T, Kohyama J, Iwakawa Y, Satoh J, Morimatsu Y. Immunohistochemical analysis of brainstem lesions in infantile spasms. It is probably misdiagnosed as epileptic seizures. How much and how often should I feed my baby? Our website services, content, and products are for informational purposes only. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. The first option your provider might recommend is thickening your babys diet by adding 1 teaspoon of rice cereal or other thickener per ounce of formula or breast milk (chest milk). "Sandifer's syndrome and gastro- oesophageal reflux disease", "Treatment of Sandifer Syndrome with an Amino-AcidBased Formula", "Sandifer's Syndrome: A Misdiagnosed and Mysterious Disorder", Esophagogastric junction outflow obstruction, Esophageal intramural pseudodiverticulosis, https://en.wikipedia.org/w/index.php?title=Sandifer_syndrome&oldid=974766249, Short description is different from Wikidata, Creative Commons Attribution-ShareAlike License 3.0, This page was last edited on 24 August 2020, at 21:56. Some infants diagnosed with Sandifer syndrome have an allergy to proteins in cows milk or certain types of formulas, which can make their symptoms worse. The imaging of choice, with the highest sensitivity, is MRI and should be the initial scanning method. Though prenatal factors account for the greatest proportion of cases of symptomatic IS, perinatal causes of IS to includehypoxic-ischemicencephalopathy and neonatal hypoglycemia also have etiologic associations with IS. [1]In regards tothe genetics of IS, it appears to occur in all ethnic groups with a 1% to 7% family history of epilepsy of any type. Specific features identified were a preponderance of acquired structural aetiology, male gender dominance, a long treatment lag . The spasms typically occur in 2 phases; the initial phase is sudden in onset, lasting less than 2 seconds, with brief contractions of 1 or more muscle groups. As stated above infantile spasms "are characterized by epileptic spasms with onset in infancy or early childhood that are usually associated with the EEG pattern of hypsarrhythmia, and also developmental regression. 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