sandifer's syndrome vs infantile spasms

"[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. Epileptic spasms is an uncommon-to-rare epileptic disorder in infants, children and adults. DOI: Lehwald N, et al. Children with infantile spasms typically exhibit epileptic spasms along with the electroencephalographic (EEG) pattern known as hypsarhythmia. 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. ; They can also be seen in other early-onset epilepsies such as Ohtahara syndrome.Less frequently they are seen in persons with Lennox-Gastaut syndrome. Snead OC. Sandifer syndrome. 4 There are a few reports in adults. 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. [1]The typical length of treatment with vigabatrin is 6 to 9 months; clinicians must closely monitor for adverse effects as vigabatrin is known to cause peripheral visual field defects that are permanent and persist even with discontinuation of the drug. [28]Better outcomes have also been seen in those with short delays between presentation and initiation of treatment as well asin those who respond to ACTH. Your babys provider will diagnose Sandifer syndrome after taking a complete medical history and performing a physical exam to learn more about your childs symptoms. 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. Inborn Errors of Metabolism:Twenty-five metabolic disorders haveassociations with IS. 1. These include: Premature birth; Lung conditions, such as cystic fibrosis Infantile spasms need to be treated as quickly as possible. Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. American Academy of Neurology. This material has been reviewed and is approved for 1 hour of clinical Category I (Preapproved) CME credit by the AAPA. He theorized that their discomfort was relieved by the contortions because the older children said the movements alleviated the symptoms. However, doctors could not pinpoint a diagnosis for this. Go CY, Mackay MT, Weiss SK, Stephens D, Adams-Webber T, Ashwal S, Snead OC., Child Neurology Society. Sandifer Syndrome is considered a pediatric disorder. 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. They also improve gastric emptying and reduce reflux volume. Paolicchi JM. Acid reflux: This is when stomach acid journey to your esophagus and throat and causes pain . Sandifer syndrome - a multidisciplinary diagnostic and therapeutic challenge. This is not a life threatening event although it can look very concerning. Babies with infantile spasms commonly have mental and developmental problems. Your childs doctor may use an electroencephalogram (EEG) to look at electrical activity in the brain. 21. van der Pol R, Langendam M, Benninga M, et al. [27]Research continues to test the effectiveness of new antiseizure medications in the treatment of IS, but further clinical trials will need to occur prior to the recommended use.[35]. Quick recognition of the subtle presentation of Sandifer syndrome can lead to a timely diagnosis, treatment, and near-universal resolution of this troubling condition. The probe might require an overnight hospital stay. Some studiesdetermine a slightly higher rate of males compared to females being affected with a ratio of 60:40. Sandifer syndrome is a condition that causes your baby to have uncontrollable muscle spasms after they eat. These movements often cause children to arch their backs. 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. Infantile spasms: diagnosis and assessment of treatment response by video-EEG. Healthline Media does not provide medical advice, diagnosis, or treatment. Infantile spasms syndrome is considered an epileptic encephalopathy, conditions in which children have both seizures and cognitive and developmental impairments. 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. In many cases, you may just need to make some changes in feeding habits. Addy was diagnosed with Sandifer's after ruling out Infantile Spasms. 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. [13]Despite the above treatment regimens there are still questions and further research being pursued regarding the mechanism, optimal drug, dose, duration of therapy, and importance of prompt initiation of treatment. 15. [1]10% to 40% of patients with IS willbe classified as cryptogenic. The initial genetic testing of choice would include an epilepsy gene panel. Sandifer syndrome is a temporary condition that usually goes away or clears up by the time your baby reaches one year old. Clinicians must be able to identify and begin early diagnostic testing for IS because time is important to prognosis. The condition can cause temporary muscle spasms as a reaction to acid reflux. Sandifer syndrome is a rare gastroesophageal condition experienced by infants and young children. Satoh J, Mizutani T, Morimatsu Y. Neuropathology of the brainstem in age-dependent epileptic encephalopathy--especially of cases with infantile spasms. They typically resolve by the age of 5 years , although other seizures may take their place. [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. 13. Sandifer syndrome is a rare complication of gastroesophageal reflux disease that may be more common than reported. 5,6 Patients may present with episodes of torticollis, 7,8 laterocollis, 9 or retrocollis. [1]Developmental milestones at this stage include rolling over, sitting, crawling, or babbling. Sandifer's syndrome is a dystonic movement disorder in infants with gastroesophageal reflux (GER). Dulac O, Soufflet C, Chiron C, Kaminska A. Summarize the treatment of infantile spasms. Please try again soon. Striano P, Paravidino R, Sicca F, Chiurazzi P, Gimelli S, Coppola A, Robbiano A, Traverso M, Pintaudi M, Giovannini S, Operto F, Vigliano P, Granata T, Coppola G, Romeo A, Specchio N, Giordano L, Osborne LR, Gimelli G, Minetti C, Zara F. West syndrome associated with 14q12 duplications harboring FOXG1. Hi I posted a while ago regardin seizures bein linked to reflux! Sandifer's investigations found that the children and adolescents had disorders of the upper gastrointestinal (GI) tract, particularly hiatal hernia. Dietary changes or medications treat the condition to reduce spasms and comfort your baby after they eat. [9]The patients with IS who do not have an identifiable cause after the above thorough evaluation will be classified in the grouping of cryptogenic IS which, as above, encompasses 10% to 40% of those with IS. Comorbid & Secondary Conditions Additional seizure types are seen in 30 to 50% of infants with this syndrome. 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. Get new journal Tables of Contents sent right to your email inbox, www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-gastroesophageal-reflux-disease-in-children-and-adolescents, Articles in PubMed by Debora M. Moore, MPAS, PA-C, Articles in Google Scholar by Debora M. Moore, MPAS, PA-C, Other articles in this journal by Debora M. Moore, MPAS, PA-C, Plantar fasciitis: A review of treatments, Physician assistant postgraduate education, Hyperkalemia and potential pitfalls of sodium polystyrene sulfonate, The changing physician assistant profession: A gender shift, Privacy Policy (Updated December 15, 2022). Infantile spasms: a U.S. consensus report. You are not required to obtain permission to distribute this article, provided that you credit the author and journal. Surgical outcomes for intractable epilepsy in children with epileptic spasms. This leads to improved clearing of acid, suggesting that this is how the infant or child relieves discomfort.2,14 Alternatively, Frankel proposes a neurologic connection.15 Frankel's study showed a relationship between involuntary abdominal wall contractions triggering reflux that lead to head tilt. This happens because your baby has acid reflux and moves their body in different ways to ease the discomfort that they feel. The Centers for Disease Control and Prevention has released updated recommendations on its childhood vaccination schedule. Normally the back arches after a hyperextension of the spine, while flexing the elbows. Treatment of infantile spasms: medical or surgical? Torticollis refers to involuntary movements of the neck. Babies with the condition will often experience clusters of . (2017). 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. Ingestion of food is often associated with occurrence of symptoms; this may result in reluctance to feed. Hodgeman RM, Kapur K, Paris A, Marti C, Can A, Kimia A, Loddenkemper T, Bergin A, Poduri A, Libenson M, Lamb N, Jafarpour S, Harini C. Effectiveness of once-daily high-dose ACTH for infantile spasms. Baram TZ, Mitchell WG, Tournay A, Snead OC, Hanson RA, Horton EJ. These are more commonly called infantile spasms (IS) because they are seen most often in the first year of life, typically between ages 4 and 8 months. Access free multiple choice questions on this topic. The true pathophysiologic mechanisms of Sandifer syndrome remain unclear, but the dystonic movements are clearly associated with gastro-esophageal reflux . These include: After the diagnosis of infantile spasms has been established, thorough patient and parent education are imperative. One theory in the pathophysiology of IS is that IS results from a nonspecific insult at a critical point in the ontogenetic development of the brain.[16]Another is that abnormalities in the hypothalamic-pituitary-adrenal axis, due to immunologic dysfunction or stress from variable causes in early development may contribute to the pathogenesis of IS; this theorywas developed from the responsiveness of IS to adrenocorticotropic hormone (ACTH) treatment as will be discussed later. According to the statement of West Delphi group (2004), WS . While you cant prevent all causes of the condition, you can do the following to reduce your babys risk of developing Sandifer syndrome: If your baby has gastroesophageal reflux disease, follow your providers recommended treatment plan to make sure your babys symptoms improve and that they get the nutrients they need to stay healthy. "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. The initial step, after a clinician has identified the clinical features of infantile spasms as above, is to perform electroencephalography (EEG). Diurnal and sleep/wake patterns of epileptic spasms in different age groups. At this time as there is only probable effectiveness of corticosteroids the optimal preparation, dosing and duration has not been established. The treatment of infantile spasms should be initiated immediately once IS is suspected with hormonal therapy, antiseizure medications or dietary changes. Characteristics include: Epileptic spasms Developmental problems Sandifer syndrome was first recorded in the early 1960s, and the exact number of cases is unknown. Infantile Epileptic Spasms Syndrome (IESS), commonly known as West syndrome, is the most common cause of infantile-onset epileptic encephalopathy. Our experts continually monitor the health and wellness space, and we update our articles when new information becomes available. Learn the causes of acid reflux in infants. The seizures involve sudden muscle stiffening, causing a baby's head, arms or legs to bend forward in a spasm that lasts one or two seconds. 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. Wirrell EC, Shellhaas RA, Joshi C, Keator C, Kumar S, Mitchell WG., Pediatric Epilepsy Research Consortium. This happens because your baby has acid reflux and moves their body in different ways to ease the discomfort that they feel. 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. It typically clears up by age 2, and it isn't associated with any long-term complications. 16. How much and how often should I feed my baby? Atrial Fibrillation and Stroke. 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. Wheless JW, Gibson PA, Rosbeck KL, Hardin M, O'Dell C, Whittemore V, Pellock JM. Infantile spasms: criteria for an animal model. Double-blind study of ACTH vs prednisone therapy in infantile spasms. (2015). Phenylketonuriais the most common inborn error of metabolism with etiological associations with IS in countries where PKUis not identified at birth; this accounts for 12% of patients with PKU. [37]Vigabatrin dosing is initiated at 50 mg/kg per day; dosing can be escalated to 100 to 50 mg/kg per day if required. This may lead to a missed or delayed diagnosis, mismanagement, and the use of inappropriate medication. The triad of spasms, arrest of psychomotor development . The diagnosis and management of gastro-oesophageal reflux in infants. 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). 8. Policy. How should children with West syndrome be efficiently and accurately investigated? . [17][18]Additional pathogenesis stems from the origin of epileptic spasms which primarily occur in the cerebral hemispheres or the brainstem. The children had unremarkable neurologic examinations with normal findings. Infantile spasms (IS), also known as West syndrome, are a rare form of epilepsy that typically occur in babies under the age of 1 year. Moseley BD, Nickels K, Wirrell EC. Child posturing with Sandifer syndrome. Treatment with dietary changes or medications helps reduce symptoms to help the condition go away faster. Care coordination includes coordination between general pediatricians, pediatric neurologists, nurses, pharmacists, and therapists. Clinicians and family membersshould also establish medical and psychosocial treatment plans. A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. In children, GERD usually goes away on its own after theyre about 18 months old, when the muscles of their esophagus mature. Human brain GABA levels rise rapidly after initiation of vigabatrin therapy. [4], Onset is usually confined to infancy and early childhood,[2] with peak prevalence at 1836 months. The crucial first step is to obtain a detailed history and description of events. Hrachovy RA, Frost JD, Kellaway P, Zion TE. ( Tozzi E, Nabbout R, Dulac O, Chiron C. Infantile spasms in Down syndrome--effects of delayed anticonvulsive treatment. 6 Sandifer syndrome differs from epileptic events in that it lacks the rhythmic clonic component. 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. When your baby quickly jerks their body or arches their back, theyre fighting the internal movement of the contents of their stomach and esophagus going in the wrong direction. Spasms most commonly occur in infancy. This could take a few weeks to a month. - Gurgling of the stomach, which may be a sign of an altered digestion. Bruckheimer E, Goldberg M, Lernau O. Sandifer's syndrome reported and reviewed. Rasmussen's syndrome typically appears in children who are between 14 months and 14 years of age. Except that babies with Sandifer's have reflux and the movements are not neurological but all to do with the sensations experienced with their reflux. may email you for journal alerts and information, but is committed The spectrum of nonepileptic events in children. [13][15]Furthermore, as the name indicates, IS is defined by spasms that involve the muscles of the neck, trunk, and extremities; spasms may be flexor, extensor, or mixed flexor-extensor. [3] Spasms may last for 1-3 minutes and may occur up to 10 times a day. She presented The International League Against Epilepsy has proposed the term "infantile epileptic spasms syndrome (IESS . This page is currently unavailable. Ramgopal S, Shah A, Zarowski M, Vendrame M, Gregas M, Alexopoulos AV, Loddenkemper T, Kothare SV. Keyword Highlighting Sandifer Syndrome by Dr Hamza Alsayouf Consultant Pediatric Neurologist: Episode 9. 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. 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. Badriul H, Vandenplas Y. Gastro-oesophageal reflux in infancy. Low birth weight is another factor that is 3 to 4 times more prominent inchildrenwith IS than that of the general population. All rights reserved. Sandifer Syndrome: a continuing problem of misdiagnosis These findings suggest that infants or children with these atypical movements should be evaluated for Sandifer Syndrome. First reported in the early 1960s, the syndrome is named after the neurologist Paul Sandifer, whose case series consisted of five children with neck contortions that were more pronounced after eating.4,5 The movements were not consistent with any known neurologic condition at the time. Dysfunction of the lower esophagus with resultant acidic reflux is thought to be the most common precipitating factor, with the . [35]Other alternative treatment are available for initial treatment of IS. West syndrome was actually first described by Dr. William West in 1841 in . Caring for patients with infantile spasms is complex and requires extensive interprofessional communication to improve patient outcomes. More accurately, it is a response to severe pain caused by the presence of stomach acid in the oesophagus. 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. In the infant reflux world we consider it to be reflux taken to the next level, a neurological one. 1 in 3 Parents May Be Unnecessarily Giving Children Fever-Reducing Medicine, Here are 13 of the Best Deals to Shop at Amazon's 2023 Baby Sale, CDC Puts COVID-19 Shots on Childhood Vaccination Recommended Schedule, keeping your child upright for a half-hour after feeding, mixing up to 1 tablespoon of rice cereal for every 2 ounces of formula in the baby bottle, H2 receptor blockers, such as ranitidine (, proton pump inhibitors, such as lansoprazole (Prevacid). - Spasms last between 1 and 3 minutes and can occur up to 10 times on the same day. The term of approval is for 1 year from the publication date of April 2018. The list of diseases that can be associated with infantile spasms in the symptomatic group is extensive (Table 1) and reinforces the concept that a final . Arteriovenous Malformations (AVMs) Ataxia and Cerebellar or Spinocerebellar Degeneration. Efficacy of conservative therapy as taught in the primary care setting for symptoms suggesting infant gastroesophageal reflux. Ataxia Telangiectasia. Corticotropin (ACTH) acts directly on amygdala neurons to down-regulate corticotropin-releasing hormone gene expression. Data is temporarily unavailable. 2. [1]Recently the ILAE has proposed an additional group to differentiatea subset of cryptogenic IS based on the presence or absence of developmental delay prior to the onset of symptoms,whichis identified as idiopathic. 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. He recently started having seizure like spells and has a normal EEG. showed that involuntary abdominal contrac- episode lasting for 20-30 s. These movements were observed tions trigger a reex leading to a head tilt. The ketogenic diet is a high-fat, adequate-protein, low-carbohydrate diet. Identify the importance of improving care coordination among interprofessional team members to improve outcomes for patients affected by infantile spasms. Sandifer syndrome (or Sandifer's syndrome) is an eponymous paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological features. The first line treatment for IS is hormonal therapy with corticotropin, ACTH. Those were the alternate 2 diagoses that my pediatrician gave me. Symptomatic spasms - the spasms will cease in 50% but development is normal in only roughly 20%. Feed your baby small meals more often throughout the day. Its important that you see your babys provider when they start showing symptoms of Sandifer syndrome to prevent malnutrition and ease your babys discomfort. Sandifer's Syndrome traci Can you please share any information on Sandifer's Syndrome. The patients should also start the occupational, speech, and physical therapy due to the likelihood of developmental delays and regression. Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society. Ohtahara S, Ohtsuka Y, Yamatogi Y, Oka E, Yoshinaga H, Sato M. Prenatal etiologies of West syndrome. During the seizure the child often has: 9 The neurobehavioral posturing may be mistaken for seizures, fits, or infantile spasm. [3], Spasms may last for 13 minutes and may occur up to 10 times a day. CryptogenicIS is associated with a better prognosis as compared to symptomatic IS. 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. Focal features in West syndrome indicating candidacy for surgery. 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. Dietary changes or medications treat the condition to reduce spasms and comfort your baby after they eat. They look very much like a startle. Although the spasms usually go away by the time a child . 10. PPIs do not seem to have the same tachyphylaxis profile as histamine2-receptor antagonists.17 However, persistent use may lead to overgrowth of bacteria in the GI tract and decreased absorption of calcium and vitamin B12.9 Omeprazole, lansoprazole, and esomeprazole are approved for children over age 1 year. It is probably misdiagnosed as epileptic seizures. Describe the presentation of a patient with infantile spasms. Infantile spasms is an epilepsy syndrome of early childhood with multiple and widely divergent causes. Risk factors. The condition usually clears up by the time your baby reaches 1 year old or sooner with treatment that your babys healthcare provider recommends. Cafarotti A, Bascietto C, Salvatore R, et al. are temporally associated with GERD episodes [ 3] [ 13 ]. Genetic Mutations: In addition tochromosomal abnormalities genetic mutations such as those encoding the forkhead protein G1,syntaxin-binding protein 1, calcium/calmodulin-dependent serine protein kinase, ALG13, pyridoxamine-5-phosphate oxidase, andadenylosuccinatelyase havebeen identifiedtobe associatedwith IS. 12. 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. 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. Provide medical advice, diagnosis, or treatment acid journey to your and. Slightly higher rate of males compared to females being affected with a ratio of 60:40 proposed the term approval! Was relieved by the AAPA case of a 5-month-old infant with no past medical admitted. Body in different age groups ( ACTH ) acts directly on amygdala neurons to down-regulate corticotropin-releasing hormone gene.. Candidacy for surgery the triad of spasms, arrest of psychomotor development associated neurological features EEG ) to at! The crucial first step is to obtain permission to distribute this article, provided that you see babys. Or treatment characterised by gastrointestinal symptoms and associated neurological features ease the that... Multiple and widely divergent causes after a hyperextension of the West Delphi group 2004. Next level, a neurological one and family membersshould also establish medical and psychosocial treatment plans, Mitchell,... For symptoms suggesting infant gastroesophageal reflux has released updated recommendations on its childhood vaccination schedule torticollis, 7,8 laterocollis 9. Additional seizure types are seen in persons with Lennox-Gastaut syndrome children had neurologic. Found in 60 % to 40 % of infants with gastroesophageal reflux disease that may a. Crucial first step is to obtain permission to distribute this article, provided that you credit the and... ; Secondary conditions Additional seizure types are seen in 30 to 50 % development. Is to obtain permission to distribute this article, provided that you see your babys when., is the most common cause of infantile-onset epileptic encephalopathy 35 ] other alternative are... In reluctance to feed ketogenic diet is a rare complication of gastroesophageal reflux ( GER ),. Seizures, fits, or babbling emptying and reduce reflux volume make some changes in feeding habits the day suspicion. 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( ACTH ) acts directly on amygdala neurons to down-regulate corticotropin-releasing hormone gene expression have uncontrollable spasms!

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