title: N-acetylcysteine for neuropsychiatric symptoms in a woman with Williams syndrome.
abstract: Williams syndrome is a relatively rare genetic disorder caused by the hemizygous microdeletion of a region in chromosome 7q11.23. Individuals with Williams syndrome typically present with a highly social, overfriendly, and empathic personality. Comorbid medical and neuropsychiatric disorders are common. Reports of effective pharmacological treatment of associated neuropsychiatric disorders are limited. The authors describe the successful treatment of interfering anger, aggression, and hair-pulling with N-acetylcysteine in a 19-year-old woman with Williams syndrome. The neuropsychiatric symptoms emerged 1 week following an upper gastrointestinal endoscopy, for which fentanyl, midazolam, and propofol were used as anesthetics. The patient's treatment course and hypothesized mechanisms underlying the clinical presentation and symptom resolution are described.
authors.affiliation: Geisel School of Medicine at Dartmouth, Lebanon, NH, USA.
authors.forename: Mildred Lopez
authors.initials: ML
authors.lastname: Pineiro
authors.affiliation: Coorparoo, Queensland, Australia.
authors.forename: Antoinette M
authors.initials: AM
authors.lastname: Roberts
authors.affiliation: Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Jessica L
authors.initials: JL
authors.lastname: Waxler
authors.affiliation: Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA, USA.
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Mullett
authors.affiliation: Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA Harvard Medical School, Boston, MA, USA Department of Medical Sciences, Netter School of Medicine, Quinnipiac University, Middletown, CT, USA.
authors.forename: Barbara R
authors.initials: BR
authors.lastname: Pober
authors.affiliation: Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA, USA Harvard Medical School, Boston, MA, USA Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA cmcdougle@partners.org.
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: McDougle
mesh_terms: D000111:Acetylcysteine / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D011569:Psychiatric Status Rating Scales; D011619:Psychotropic Drugs / Q000627:therapeutic use*; D016896:Treatment Outcome; D018980:Williams Syndrome / Q000188:drug therapy* / Q000523:psychology*; D055815:Young Adult
chemical_list: D011619:Psychotropic Drugs; D000111:Acetylcysteine
keywords: N-acetylcysteine; Williams syndrome; behavior; glutamate; neuropsychiatric