title: Modes and patterns of self-mutilation in persons with Lesch-Nyhan disease.
abstract: Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder associated with cognitive impairment, choreoathetosis, hyperuricemia, and the hallmark symptom of severe and involuntary self-mutilation. This study examines data gathered from a survey of 64 families in the USA and abroad regarding the self-injury of their family members who have LND. The individuals with LND ranged in age from 1 to 40 years (mean 16 years 7 months, SD 11 years 2 months) and, with the exception of one, were males. The most common initial mode of self-mutilation, and the most frequently cited past or current behavior, was biting of lips and/or fingers. Other behaviors, in order of frequency, included head banging, extension of arms when being wheeled through doorways, tipping of wheelchairs, eye-poking, fingers in wheelchair spokes, and rubbing behaviors. Hierarchical cluster analysis identified patterns of association among the types of self-mutilation. Modes of self-mutilation in which external surfaces (such as a wheelchair component) served as instruments of self-injury tended to co-occur, as did biting of lips and fingers.
authors.affiliation: Matheny Institute for Research in Developmental Disabilities, Matheny School and Hospital, PO Box 339, Peapack, NJ 07977, USA. research@matheny.org
authors.forename: Kenneth L
authors.initials: KL
authors.lastname: Robey
authors.forename: John F
authors.initials: JF
authors.lastname: Reck
authors.forename: Karen D
authors.initials: KD
authors.lastname: Giacomini
authors.forename: Gabor
authors.initials: G
authors.lastname: Barabas
authors.forename: Gary E
authors.initials: GE
authors.lastname: Eddey
mesh_terms: D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D002220:Carbamazepine / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D003975:Diazepam / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000235:genetics; D008297:Male; D016728:Self-Injurious Behavior / Q000175:diagnosis* / Q000188:drug therapy; D011795:Surveys and Questionnaires
chemical_list: D000927:Anticonvulsants; D002220:Carbamazepine; D003975:Diazepam