title: CHARGE association in Sweden: malformations and functional deficits.
abstract: CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA.
authors.affiliation: Department of Ophthalmology, Sahlgrenska University Hospital, Göteborg, Sweden. kerstin.stromland@vgregion.se
authors.forename: Kerstin
authors.initials: K
authors.lastname: Strömland
authors.forename: Lotta
authors.initials: L
authors.lastname: Sjögreen
authors.forename: Maria
authors.initials: M
authors.lastname: Johansson
authors.forename: Britt-Marie
authors.initials: BM
authors.lastname: Ekman Joelsson
authors.forename: Marilyn
authors.initials: M
authors.lastname: Miller
authors.forename: Susanna
authors.initials: S
authors.lastname: Danielsson
authors.forename: Eva
authors.initials: E
authors.lastname: Billstedt
authors.forename: Christopher
authors.initials: C
authors.lastname: Gillberg
authors.forename: Catharina
authors.initials: C
authors.lastname: Jacobsson
authors.forename: Jan Andersson
authors.initials: JA
authors.lastname: Norinder
authors.forename: Gösta
authors.initials: G
authors.lastname: Granström
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002754:Choanal Atresia / Q000473:pathology*; D003103:Coloboma / Q000473:pathology*; D003638:Deafness / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008423:Maternal Age; D010331:Paternal Age; D012307:Risk Factors; D013548:Sweden; D013577:Syndrome