{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:30:46Z","timestamp":1790706646952,"version":"4.1.0"},"reference-count":50,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["FOC"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:p>Deep brain stimulation (DBS) has been reported to have beneficial effects in severe, treatment-refractory cases of obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). In this report, the authors present the first case in which DBS was used to treat the neuropsychiatric symptoms of Kleefstra syndrome, a rare genetic disorder characterized by childhood hypotonia, intellectual disability, distinctive facial features, and myriad psychiatric and behavioral disturbances. A 24-year-old female patient with childhood hypotonia, developmental delay, and diagnoses of autism spectrum disorder, OCD, and TS refractory to medical management underwent the placement of bilateral ventral capsule\/ventral striatum (VC\/VS) DBS leads, with clinical improvement. Medical providers and family observed gradual and progressive improvement in the patient's compulsive behaviors, coprolalia, speech, and social interaction. Symptoms recurred when both DBS electrodes failed because of lead fracture and dislodgement, although the clinical benefits were restored by lead replacement. The symptomatic and functional improvements observed in this case of VC\/VS DBS for Kleefstra syndrome suggest a novel indication for DBS worthy of further investigation.<\/jats:p>","DOI":"10.3171\/2015.3.focus1528","type":"journal-article","created":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T09:07:57Z","timestamp":1433149677000},"page":"E12","source":"Crossref","is-referenced-by-count":26,"title":["Deep brain stimulation for the obsessive-compulsive and Tourette-like symptoms of Kleefstra syndrome"],"prefix":"10.3171","volume":"38","author":[{"given":"David J.","family":"Segar","sequence":"first","affiliation":[{"name":"Alpert Medical School, Brown University; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosef G.","family":"Chodakiewitz","sequence":"additional","affiliation":[{"name":"Alpert Medical School, Brown University; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radmehr","family":"Torabi","sequence":"additional","affiliation":[{"name":"Alpert Medical School, Brown University; and"},{"name":"Department of Neurosurgery, Rhode Island Hospital, Providence, Rhode Island"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Rees","family":"Cosgrove","sequence":"additional","affiliation":[{"name":"Alpert Medical School, Brown University; and"},{"name":"Department of Neurosurgery, Rhode Island Hospital, Providence, Rhode Island"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"key":"b1-focus1528","series-title":"Behav Brain Res","first-page":"47","article-title":"Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice","volume":"208","author":"Balemans","year":"2010"},{"key":"b2-focus1528","series-title":"Hum Mol Genet","first-page":"852","article-title":"Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome","volume":"22","author":"Balemans","year":"2013"},{"key":"b3-focus1528","series-title":"Acta Neurochir (Wien)","first-page":"1061","article-title":"Hardware-related complications of deep 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