title: Scoliosis in CHARGE: a prospective survey and two case reports.
abstract: CHARGE syndrome was first identified as a cluster of congenital anomalies in 1979 and has since undergone diagnostic criteria modifications to include the major and minor characteristics that occur during infancy and childhood. As the individuals with CHARGE syndrome have aged into their adolescents and adulthood, it has become increasingly common for them to develop scoliosis. This article presents an older population of individuals with CHARGE syndrome and describes the prevalence of scoliosis, and identifiable risk factors for scoliosis. Two case reports demonstrate the variability of scoliosis in CHARGE syndrome. A survey of adults and adolescents with CHARGE syndrome was completed to collect information about late onset medical issues, and those identifying scoliosis as an issue, were further followed for more information. The total population (n=31) and then the subgroup of individuals with scoliosis (n=19) were analyzed. Sixty one percent (19 of 31) of this population was diagnosed with scoliosis. The age of CHARGE syndrome diagnosis was later in the scoliosis population (6.3 years compared to 3.7 years in the no scoliosis population). Growth hormone use was reported in 7 of 31 of the individuals; 6 of these subsequently were diagnosed with scoliosis (32% of the scoliosis group). Of the scoliosis subgroup, most were mild scoliosis but eight were diagnosed with moderate to severe scoliosis, and all of these were treated with either a brace (n=5) or with surgical fusion (n=2) and one individual had both. Scoliosis in CHARGE syndrome individuals is more common than previously reported, and the age of onset is earlier than when routine monitoring for scoliosis is recommended. The prevalence of scoliosis in the CHARGE syndrome population is higher than in the general population therefore, it is very important for physicians to carefully monitor the spine for the development of scoliosis in children with CHARGE syndrome, especially if they are being treated with growth hormone.
authors.affiliation: IWK Health Centre, Halifax, Nova Scotia.
authors.forename: Crystal
authors.initials: C
authors.lastname: Doyle
authors.forename: Kim
authors.initials: K
authors.lastname: Blake
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000328:Adult; 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; D015995:Prevalence; D011446:Prospective Studies; D011859:Radiography; D012600:Scoliosis / Q000150:complications / Q000453:epidemiology / Q000473:pathology*; D013131:Spine / Q000000981:diagnostic imaging; D011795:Surveys and Questionnaires; D013577:Syndrome