title: An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome.
abstract: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11-q13) that results in a host of behavioral characteristics including excessive interest in food, skin picking, difficulty with a change in routine, and obsessive and compulsive behaviors. Skin-picking can result in serious and potentially life-threatening infections. Recent evidence suggests that the excitatory neurotransmitter glutamate is dysregulated in obsessive-compulsive behaviors, and modulation of the glutaminergic pathway may decrease compulsive behaviors, such as recurrent hair pulling or skin-picking behaviors. N-acetylcysteine (NAC), a derivative of the amino acid cysteine, is thought to act either via modulation of NMDA glutamate receptors or by increasing glutathione in pilot studies. Thirty-five individuals with confirmed PWS (ages 5-39 years, 23 females/12 males) and skin-picking behavior for more than 1 year were treated with N-acetylcysteine (Pharma-NAC®) at a dose of 450-1,200 mg/day. Skin-picking symptoms and open lesions were assessed after 12 weeks of treatment by counting and measuring lesions before and after the medication. All 35 individuals had improvement in skin-picking behaviors. Ten (29%) individuals (six males and four females) did not have complete resolution of skin-picking behavior, but had significant reduction in the number of active lesions. Longer-term, placebo-controlled trials are needed to further assess the potential benefit of this treatment.
authors: Department of Pediatrics-Endocrinology, University of Florida, Gainsville, Florida.
authors: Jennifer L
authors: JL
authors: Miller
authors: Moris
authors: M
authors: Angulo
mesh_terms: D000111:Acetylcysteine / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D010865:Pilot Projects; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012652:Self Mutilation / Q000188:drug therapy* / Q000209:etiology*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000111:Acetylcysteine
keywords: N-acetylcysteine; Prader-Willi syndrome; skin-picking