title: Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options.
abstract: Twenty-nine students with CHARGE syndrome were evaluated using the Compulsive Behavior Checklist (CBC). Most of the students obtained a high score for repetitive behaviors, averaging 11.5 repetitive behaviors per student. Most students' repetitive behaviors significantly interfered with their daily routine. Thirty-four percent of the students responded to redirection with aggression toward themselves or others. Many of these behaviors do not respond well to traditional behavioral techniques. Through observation, definitions, and using functional analysis of behavior, repetitive behaviors were assigned to one of four categories. Each category has different treatment options. A case study of an adolescent girl with CHARGE syndrome who has profound deafness, colobomas, and moderate cognitive delay is presented. She displayed severe behavior challenges and significant medical issues. The course of treatment is outlined over 5 years. Behavior management, medical management, and psychiatric management were used in regulating her behavior, medical issues, and anxiety disorder. Close coordination between disciplines and excellent family involvement led to a very positive outcome. The student, now 19 years old, has made progress in her educational program and has been able to experience more community integration.
authors.affiliation: Deafblind Program, Perkins School for the Blind, Watertown, Massachusetts 02742, USA. veronika.bernstein@perkins.org
authors.forename: Veronika
authors.initials: V
authors.lastname: Bernstein
authors.forename: Laurie S
authors.initials: LS
authors.lastname: Denno
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy; D000293:Adolescent; D000328:Adult; D001521:Behavior Therapy; D002648:Child; D002675:Child, Preschool; D002754:Choanal Atresia / Q000473:pathology; D003103:Coloboma / Q000473:pathology*; D003192:Compulsive Behavior; D003638:Deafness / Q000473:pathology; D003937:Diagnosis, Differential; D004423:Ear / Q000002:abnormalities; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D009771:Obsessive-Compulsive Disorder / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D013577:Syndrome