{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T04:23:41Z","timestamp":1768191821778,"version":"3.49.0"},"reference-count":15,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,3,1]]},"abstract":"<jats:p>Objective. Coffin-Lowry syndrome (CLS) is a rare disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering digits, and skeletal deformity. Paroxysmal drop attacks occur in patients with CLS, characterized by sudden loss of muscle tone induced by unexpected tactile or auditory stimuli. Our objective is to characterize these attacks better using neurophysiologic studies.<\/jats:p><jats:p>Methods. We report 2 teenage boys with CLS and stimulus-induced drop episodes (SIDEs). Simultaneous surface electromyogram (EMG) and video electroencephalogram were performed during SIDEs on our 2 patients.<\/jats:p><jats:p>Results. Both patients had SIDEs stimulated by a loud noise, unexpected light touch stimulation, or visual threat that were characterized by abrupt episodes of complete or partial loss of lower extremity tone. These events were not associated with impairment of consciousness, and immediate recovery was noted. Simultaneous surface EMG and video electroencephalogram revealed no epileptiform discharges in either patient. In the first patient, after unexpected tactile or auditory stimulation, tonic EMG activity in paraspinal muscles was lost briefly, similar to that seen in cataplexy. In the second patient, at 6 years of age, sudden nonepileptic drop episodes were induced by an unexpected tactile, auditory, or visual stimulation. At 11 years of age, his episodes had changed to brief myoclonic jerk and tonic spasm that were triggered by unexpected tactile and auditory stimuli. An increase in tonic EMG activity occurred during the attacks, consistent with hyperekplexia.<\/jats:p><jats:p>Conclusions. Our data suggest that SIDEs in CLS are a heterogeneous group of nonepileptic events that may manifest features of both cataplexy and hyperekplexia, even in the same patient.<\/jats:p>","DOI":"10.1542\/peds.111.3.e197","type":"journal-article","created":{"date-parts":[[2004,8,14]],"date-time":"2004-08-14T00:43:47Z","timestamp":1092444227000},"page":"e197-e202","source":"Crossref","is-referenced-by-count":37,"title":["Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome"],"prefix":"10.1542","volume":"111","author":[{"given":"Gregg B.","family":"Nelson","sequence":"first","affiliation":[{"name":"From the Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California; and Lucile Packard Children\u2019s Hospital at Stanford, Stanford, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin S.","family":"Hahn","sequence":"additional","affiliation":[{"name":"From the Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, California; and Lucile Packard Children\u2019s Hospital at Stanford, Stanford, California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2003,3,1]]},"reference":[{"key":"2021121104555137600_R1","doi-asserted-by":"crossref","unstructured":"Coffin GS, Siris E, Wegienka LC. Mental retardation with osteocartilaginous anomalies. Am J Dis Child.1966;112:205\u2013213","DOI":"10.1001\/archpedi.1966.02090120073006"},{"key":"2021121104555137600_R2","doi-asserted-by":"crossref","unstructured":"Lowry B, Miller JR, Frazer FC. A new dominant gene mental retardation syndrome. Am J Dis Child.1971;121:496\u2013500","DOI":"10.1001\/archpedi.1971.02100170078009"},{"key":"2021121104555137600_R3","doi-asserted-by":"crossref","unstructured":"Trivier E, De Cesare D, Jacquot S, et al. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature.1996;384:567\u2013570","DOI":"10.1038\/384567a0"},{"key":"2021121104555137600_R4","doi-asserted-by":"crossref","unstructured":"Nakamura M, Yamagata T, Momoi MY, Yamazaki T. Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam. Pediatr Neurol.1998;19:148\u2013150","DOI":"10.1016\/S0887-8994(98)00029-0"},{"key":"2021121104555137600_R5","doi-asserted-by":"crossref","unstructured":"Crow YJ, Zuberi SM, McWilliam R, et al. \u201cCataplexy\u201d and muscle ultrasound abnormalities in Coffin-Lowry syndrome. J Med Genet.1998;35:94\u201398","DOI":"10.1136\/jmg.35.2.94"},{"key":"2021121104555137600_R6","doi-asserted-by":"crossref","unstructured":"Fryns JP, Smeets E. \u201cCataplexy\u201d in Coffin-Lowry syndrome. J Med Genet.1998;35:702","DOI":"10.1136\/jmg.35.8.702"},{"key":"2021121104555137600_R7","doi-asserted-by":"crossref","unstructured":"Caraballo R, Tesi Rocha A, Medina C, Fejerman N. Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response. Epileptic Disord.2000;2:173\u2013176","DOI":"10.1684\/j.1950-6945.2000.tb00378.x"},{"key":"2021121104555137600_R8","doi-asserted-by":"crossref","unstructured":"Anic-Labat S, Guilleminault C, Kraemer H, Meehan J, Arrigoni J, Mignot E. Validation of a cataplexy questionnaire in 983 sleep-disorders patients. Sleep.1999;22:77\u201387","DOI":"10.1037\/t92850-000"},{"key":"2021121104555137600_R9","doi-asserted-by":"crossref","unstructured":"Manford MRA, Fish DR, Shorvon SD. Startle provoked epileptic seizures: features in 19 patients. J Neurol Neurosurg Psychiatry.1996;61:151\u2013156","DOI":"10.1136\/jnnp.61.2.151"},{"key":"2021121104555137600_R10","doi-asserted-by":"crossref","unstructured":"Ricci S, Cusmai R, Fusco L, Vigevano F. Reflex myoclonic epilepsy in infancy: a new age-dependent idiopathic epileptic syndrome related to startle reaction. Epilepsia.1995;36:342\u2013348","DOI":"10.1111\/j.1528-1157.1995.tb01007.x"},{"key":"2021121104555137600_R11","doi-asserted-by":"crossref","unstructured":"Padley S, Hodgson SV, Sherwood T. The radiology of Coffin-Lowry syndrome. Br J Radiol.1990;63:72\u201375","DOI":"10.1259\/0007-1285-63-745-72"},{"key":"2021121104555137600_R12","doi-asserted-by":"crossref","unstructured":"Brown P, Rothwell JC, Thompson PD, Britton TC, Day BL, Marsden CD. The hyperekplexias and their relationship to the normal startle reflex. Brain.1991;114:1903\u20131928","DOI":"10.1093\/brain\/114.4.1903"},{"key":"2021121104555137600_R13","doi-asserted-by":"crossref","unstructured":"Saenz-Lope E, Herranz-Tanarro FJ, Masdeu JC, Charcon Pena JR. Hyperekplexia: a syndrome of pathological startle responses. Ann Neurol.1984;15:36\u201341","DOI":"10.1002\/ana.410150107"},{"key":"2021121104555137600_R14","unstructured":"Guilleminault C, Gelb M. Clinical aspects and features of cataplexy. Adv Neurol.1995;67:65\u201377"},{"key":"2021121104555137600_R15","doi-asserted-by":"crossref","unstructured":"Yeomans JS, Frankland PW. The acoustic startle reflex: neurons and connections. Brain Res Brain Res Rev.1996;21:301\u2013314","DOI":"10.1016\/0165-0173(96)00004-5"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/111\/3\/e197\/1003038\/pe030300e197.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/111\/3\/e197\/1003038\/pe030300e197.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T08:09:27Z","timestamp":1734509367000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/111\/3\/e197\/79888\/Stimulus-Induced-Drop-Episodes-in-Coffin-Lowry"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,3,1]]},"references-count":15,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2003,3,1]]},"published-print":{"date-parts":[[2003,3,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.111.3.e197","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,3,1]]}}}