Wilmshurst JM, Gaillard WD, Vinayan KP, Tsuchida TN, Plouin P, Van Bogaert P, Carrizosa J, Elia M, Craiu D, Jovic NJ, Nordli D, Hirtz D, Wong V, Glauser T, Mizrahi EM, Cross JH. Infantile spasms (IS) are a type of seizure that is linked to an epileptic condition known as West syndrome. your express consent. ), which permits others to distribute the work, provided that the article is not altered or used commercially. COVID-19 shots are now, Healthline has strict sourcing guidelines and relies on peer-reviewed studies, academic research institutions, and medical associations. Bedside to bench. Misdiagnosis as benign infantile spasms or epileptic seizures is common, particularly where clear signs or symptoms of gastro-oesophageal reflux are not apparent. Nearly 80% of infants will have improvement of their symptoms within 2 weeks with lifestyle changes alone.18 Advise parents of healthy full-term infants to thicken expressed breast milk or formula with 1 tablespoon of plain infant rice cereal for every 2 to 4 oz of breast milk or formula, or use a commercially prepared prethickened formula.19 Thickened formula should be used with caution with preterm infants due to increased risk of necrotizing enterocolitis.20 Encourage parents to decrease the volume or frequency of feedings in babies who are being overfed, and to avoid passive cigarette smoke.9,18 Placing the child completely upright after feedings seems to have benefit, as does placing the child in the flat prone position.17 Infants can be placed prone only for short periods and only while awake and supervised. Efficacy and safety of histamine-2 receptor antagonists. Because of the complex nature of infantile spasms and the need for prompt diagnosis and initiation of treatment, strict interprofessional communication must occur. Infantile spasms last around one to two seconds in a series; whereas other types of seizures can last from 30 seconds to two minutes. The seizures occur in a series of short spasms, about one to two seconds in length. Current research using animal modelsis being performed to contribute to the understanding of the pathophysiology of IS. There is an abnormal movement of the head, neck and back of the child that resembles seizures. The other hormonal therapy that has potential effectiveness in IS treatment are corticosteroids. Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Studies show that nearly 7% of infants in the United States have gastroesophageal reflux disease (GERD) and less than 1% of those infants experience muscle spasms. [38][39][40]Once treatment starts, continued monitoring of the patient for side effects as well as treatment effectiveness must occur. The most common epilepsy type is West syndrome (also known as infantile spasms syndrome). History & Examination They also improve gastric emptying and reduce reflux volume. Babies with the condition will often experience clusters of . This is associated with developmental regression. Vigevano F, Fusco L, Cusmai R, Claps D, Ricci S, Milani L. The idiopathic form of West syndrome. 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). Gaily E, Liukkonen E, Paetau R, Rekola R, Granstrm ML. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Kabakuş N, et al. They look very much like a startle. [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. You may have heard of West syndrome. 9 The neurobehavioral posturing may be mistaken for seizures, fits, or infantile spasm. Weakness and other neurological problems often begin 1 to 3 years after the seizures start. [27], After an EEG shows findings suggestive of IS, neuroimaging is the next diagnostic test that should be pursued. [4], Sandifer syndrome is not typically life-threatening[4] and the prognosis is typically good. Gastric Symptoms in Infants and. 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. Tests arent usually necessary, but they can rule out conditions with similar symptoms to confirm a diagnosis. There is a peculiar epidemiological profile of IESS in South Asia. The positioning is intermittent, changes sides, and the sternocleidomastoid is normal with absence of spasm. Ohtahara S, Ohtsuka Y, Yamatogi Y, Oka E, Yoshinaga H, Sato M. Prenatal etiologies of West syndrome. The last stage is characterized by a progressive decrease in spasm frequency and severity. Sandifer syndrome (or Sandifer's syndrome) is an eponymous paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological features. http://creativecommons.org/licenses/by-nc-nd/4.0/ Satoh J, Mizutani T, Morimatsu Y. Neuropathology of the brainstem in age-dependent epileptic encephalopathy--especially of cases with infantile spasms. Case studies verified that the posturing does not return once the GERD or hiatal hernia is successfully treated.8,15 If GERD is suspected or diagnosed, research recommends starting with the standard treatment approach for GERD in children, as outlined in the comprehensive guideline from the North American and European Societies of Pediatric Gastroenterology, Hepatology, and Nutrition.17, Lifestyle changes are the first step in treating GERD and Sandifer syndrome. Providers should be aware of Sandifer syndrome when evaluating a child with torticollis or unusual posturing that is not associated with neuromuscular disease or injury. Last medically reviewed on November 20, 2017. While its often not a serious condition, it can be painful and lead to feeding problems, which can affect growth. . Time interval from a brain insult to the onset of infantile spasms. Infantile spasms is a unique epileptic disorder characterized by clusters of brief infantile spasms, where each one lasts a few seconds and cluster may last minutes. All rights reserved. Nodding and rotation of the head, neck extension, gurgling sounds, writhing movements . Review. GERD often causes chest pain and throat discomfort, and studies suggest that the movements associated with Sandifer syndrome are simply a childs response to pain or way of relieving discomfort. Epilepsy Res. Once diagnostic testing is completedthepatient should begin treatment without delay. [1]Infantile spasms have been evaluatedfor over 170 yearsin regards to etiology, pathogenesis, clinical features, and diagnosis. [13][14][15]Numerous studies have been performedto determine the likelihood of males versus females tobe diagnosedwith IS without clear evidence. If Sandifer syndrome is diagnosed, parents can be reassured the posturing will likely improve with treatment. How should children with West syndrome be efficiently and accurately investigated? Infantile spasms are linked to mental delays. Ataxia Telangiectasia. Once adiagnosis is made, a pharmacist can assist in medicine distribution and dosing, as well as parent education, on medication side effects. Taghdiri MM, Nemati H. Infantile spasm: a review article. 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. 16. After treatment begins, your babys symptoms should decrease or resolve over time. Tests might include: Managing GERD is the key to treating Sandifer syndrome. Sandifer syndrome a rare disorder that usually affects children up to the ages of 18 to 24 months. Mortality rates of IS range from 3% to 33%. Let's get started with defining infantile spasms. Cleveland Clinic Children's is dedicated to the medical, surgical and rehabilitative care of infants, children and adolescents. Neurological examination is usually normal. Moore, Debora M. MPAS, PA-C; Rizzolo, Denise PA-C, PhD. 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. Wolters Kluwer Health
Prokinetic agents such as metoclopramide are not recommended because the benefits are outweighed by risks such as irritability, lethargy, extrapyramidal reactions, and permanent tardive dyskinesia.17 A study by Kabaku and Kurt showed that the addition of medication to the treatment regimen led to a dramatic decrease in posturing events.6 Agents such as histamine2-receptor antagonists and PPIs reduce the amount of acid secretion in the stomach. 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. 4. Diagnosis and Treatment of Gastroesophageal Reflux in Infants and Children. [1]Other side effects that must be monitored for include sedation, irritability, insomnia and hypotonia. Sandifer's Syndrome appears and presents like epilepsy, or petit-mal in babies. So if you notice possible symptoms, see your childs doctor. ObjectiveThe limitations of adrenocorticotrophic hormone (ACTH) treatment for infantile spasms (ISs), such as high costs, limited availability, and adverse effects (AEs), make it necessary to explore whether corticosteroids are optimal alternatives. The authors have disclosed no potential conflicts of interest, financial or otherwise. [1] Infantile spasms have been evaluated for over 170 years in regards to etiology, pathogenesis, clinical features, and diagnosis. to maintaining your privacy and will not share your personal information without
Chromosome Abnormalities: Down syndrome is the most common chromosomal abnormality tobe associatedwith IS. 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. [4] In rare cases, particularly where the child is severely mentally impaired, onset may extend to adolescence. Mackay MT, Weiss SK, Adams-Webber T, Ashwal S, Stephens D, Ballaban-Gill K, Baram TZ, Duchowny M, Hirtz D, Pellock JM, Shields WD, Shinnar S, Wyllie E, Snead OC., American Academy of Neurology. Moseley BD, Nickels K, Wirrell EC. Sandifer syndrome, an extraesophageal sign associated with gastroesophageal reflux disease (GERD), should be considered in the differential diagnosis of infants and children presenting with nonepileptic posturing and dystonic movements. When a clinician determines a nonepileptic event occurred, the upper GI tract should be evaluated. Sandifer syndrome is a condition characterized by unusual movements of your childs head, neck and back. The patients should also start the occupational, speech, and physical therapy due to the likelihood of developmental delays and regression. Michaud JL, Lachance M, Hamdan FF, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. The genetic landscape of infantile spasms. Describe the presentation of a patient with infantile spasms. A 6-month-old boy with uncontrollable dystonic posture of the neck. Clinicians must be able to identify and begin early diagnostic testing for IS because time is important to prognosis. 6. Sandifer syndrome isn't a serious condition. Visit your babys healthcare provider if they: It can be upsetting to see your baby have muscle spasms or not eat regularly because of reflux. 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. 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. Infantile spasmscan be classified into two, well-known groupings of symptomatic and cryptogenic. 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. Arachnoiditis. This page is currently unavailable. Tozzi E, Nabbout R, Dulac O, Chiron C. Infantile spasms in Down syndrome--effects of delayed anticonvulsive treatment. Autism Spectrum Disorder. Shields WD, Shewmon DA, Chugani HT, Peacock WJ. [1]Developmental milestones at this stage include rolling over, sitting, crawling, or babbling. At this time as there is only probable effectiveness of corticosteroids the optimal preparation, dosing and duration has not been established. Sandifer syndrome is a rare complication of gastroesophageal reflux disease that may be more common than reported. Symptoms The most common symptom of infantile spasms is stiffening of the body. Frankel EA, Shalaby TM, Orenstein SR. Sandifer syndrome posturing: relation to abdominal wall contractions, gastroesophageal reflux, and fundoplication. Corticotropin (ACTH) acts directly on amygdala neurons to down-regulate corticotropin-releasing hormone gene expression. 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. Secondary reflux is due to disease or a condition in the upper GI tract, such as idiopathic pyloric hypertrophy or esophagitis from cow's milk protein, or outside the GI tract, such as intracranial hypertension.9, GERD denotes the presence of damage from the increase in frequency and intensity of reflux.12 In infants and children, GERD can cause respiratory symptoms, failure to thrive, esophagitis, anemia, apparent life-threatening events such as apnea and choking, and paroxysmal nonepileptic events.1,7,9,12 Signs of GERD in infants and children can include irritability, feeding refusal, rumination, and fussiness.9. Gastroesophageal reflux: life-threatening disease or laundry problem. 7. Treatment of Sandifer syndrome with an amino-acid-based formula. The dystonia of Sandifer syndrome mainly involves the head, neck, back, and upper trunk but not the limbs. The children had unremarkable neurologic examinations with normal findings. Additional symptoms that can happen as a result of Sandifer syndrome include: The exact cause of Sandifer syndrome is unknown. What type of thickener should I use to thicken breast milk/formula? Some error has occurred while processing your request. Successful completion is defined as a cumulative score of at least 70% correct. This pattern comprises very high voltage, random, slow waves and spikes in all cortical areas.[13]Spikes may occur in a generalized manner but are never rhythmic or organized as would beseen in childhood absence epilepsy. Arteriovenous Malformations (AVMs) Ataxia and Cerebellar or Spinocerebellar Degeneration. [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. Sometimes two EEGs may be needed. Parents may also note the loss of social interactions, social smiles, or increased fussiness or silence. Not a Member? Surgical treatment is another consideration for refractory IS if a focal-cortical structural, metabolic abnormality or neurodevelopmental arrest/regression is noted. Other conditions of the neck such as congenital abnormalities of the spine, injuries to the neck or spine, and inflammatory conditions can be excluded by examination.8, The dystonia of Sandifer syndrome mainly involves the head, neck, back, and upper trunk but not the limbs.9 The neurobehavioral posturing may be mistaken for seizures, fits, or infantile spasm.6 Sandifer syndrome differs from epileptic events in that it lacks the rhythmic clonic component.4 Infrequently, epileptic events in infants will present solely as tonic posturing.10 Paroxysmal nonepileptic events commonly are encountered in infants and young children and a large portion of cases can be diagnosed on the basis of a careful history and physical examination.7 In patients whose presentation is not as clear, research has shown a simple video-EEG monitoring can clarify the diagnosis.7, In her review of nonepileptic events in children, Paolicchi cautions not to exclude Sandifer syndrome in patients with epilepsy.10 Children with hypotonia and neurologic impairment already are at risk for GERD, so the posturing associated with Sandifer syndrome is confounding, can be overlooked, and may be mistakenly attributed to their primary neurologic condition.11, Laboratory studies generally are not helpful in diagnosis but several case studies have reported the presence of chronic anemia that may be the result of nutritional problems, hematemesis, esophagitis, and mild chronic blood loss due to longstanding GERD.2,12, What makes Sandifer syndrome distinctive is the presence of GERD with or without a hiatal hernia.8 Gastroesophageal reflux is the involuntary passage of gastric contents into the esophagus. The authors indicate that this will reduce the confusion when classifying children if they do not have the triad of hypsarrhythmia, developmental regression and spasms. 10. Gastro-Esophageal Reflux in Children. Sandifer's investigations found that the children and adolescents had disorders of the upper gastrointestinal (GI) tract, particularly hiatal hernia. Babies with infantile spasms commonly have mental and developmental problems. This reinforces why it is important for clinicians to be aware of the signs of IS andthe diagnostic strategies and best practices; time is the prognosis for IS. Baram TZ. 5. Symptomatic spasms - the spasms will cease in 50% but development is normal in only roughly 20%. Emergency medical physicians may also be part of care coordination as they will likely evaluate the patient initiallywhen the parents note spasms. (2006). What is West syndrome? All children with infantile spasms will need an EEG. [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]. In many cases, you may just need to make some changes in feeding habits. AAPA Members can view Full text articles for FREE. Both of those things are outgrown without intervention. Treating Sandifer syndrome involves trying to reduce symptoms of GERD. [31][33][34]For both dosing regimes if relapse occurs a second course for 4 to 6 weeks is administered. West syndrome was actually first described by Dr. William West in 1841 in . The etiology of IS is established in 70% of cases with neuroimaging. My short explanation is that when a baby has such bad acid, reflux, and heartburn their little bodies cannot handle the pain so their bodies will do all sorts of crazy movements. How does ACTH work against infantile spasms? Infantile Epileptic Spasms Syndrome (IESS), commonly known as West syndrome, is the most common cause of infantile-onset epileptic encephalopathy. Sandifer syndrome. [3][4][5] Nodding and rotation of the head, neck extension, gurgling, writhing movements of the limbs, and severe hypotonia have also been noted. West syndrome 1. Furthermore, when the hiatal hernia and acid reflux were surgically corrected, the posturing stopped.5, Fewer than 1% of children with GERD also have Sandifer syndrome (Figure 1).4 Researchers theorize that many patients with the syndrome may not be recognized because it is mistaken for a neuromuscular or neuropsychiatric disease.4 Many of these children get extensive unnecessary neurologic evaluations and treatments.4,6 Sandifer syndrome is thought to be an underreported condition in literature but is believed to be seen frequently in the pediatric neurology and gastroenterology settings.4, Kotagal and colleagues reviewed 6 years of data from the Cleveland Clinic's pediatric epilepsy monitoring unit to determine the frequency and source of paroxysmal nonepileptic events.7 They found that in children ages 2 months to 5 years being evaluated for paroxysmal nonepileptic events, 16% had GERD as the underlying diagnosis.7, History and clinical observation are fundamental in identifying Sandifer syndrome as part of the atypical presentation of GERD.6 Typically the infant may exhibit irritability, crying, eye deviation with head version, torticollis that may change sides, extensor spasm, dystonic posture (Figure 2), and rumination (rechewing of regurgitated food product).2,6, Torticollis associated with Sandifer syndrome is unique. 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