Abstract
PurposeOsteogenesis imperfecta (OI) results from mutations in the genes involved in the modification or biosynthesis of collagen. This study aimed to assess the oral health-related quality of life (OHRQoL) in children with OI.MethodologyParticipants were recruited from a highly specialised OI centre for children. The Child Oral-Health Impact Profile—Short Form (COHIP-SF) was used, adding demographic and qualitative questions. Children aged 8–16 years participated between January and October 2019. Statistical analysis was carried out. A higher COHIP-SF score indicates better OHRQoL (maximum score, 76).ResultsOne hundred and six (106) children participated (44 female, mean age 11.93 years). COHIP-SF median score was 59. Children reporting mild OI (n = 55) had higher median scores (62) compared to severe OI (n = 7) with median scores of 55 (P = 0.087). When comparing mixed (< 12 years, n = 46) and permanent dentition (≥ 12, n = 60), no significant difference in OHRQoL was seen (P = 0.977). There was no significant difference between severities for each COHIP-SF domain. Limited data on the presence of dentinogenesis imperfecta did not impact overall score (P = 0.109), but was significant in the oral-health domain (P = 0.033).QualitativeCommon themes were the need for braces, discolouration, pain and function.ConclusionThis study confirmed that children with OI have dental concerns in areas including oral health, functional well-being and socio-emotional well-being. This was related to severity of OI.
Highlights
Osteogenesis imperfecta (OI), known as ‘brittle bone disease’ (Forlino et al 2011), is a genetic condition resulting from a mutation in the genes involved in the modification or formation of collagen (Byers et al 1989)
The clinical features of OI are related to collagen abnormalities and include hearing loss, which can be seen across all types of OI and tend to be a progressive disorder due to sensorineural and conductive deficiencies (Forlino et al 2011): blue sclera, which results from the abnormal way the light reflects off the collagen in the sclera (Pillion et al 2011); and neurological features including macrocephaly, syringomyelia, basilar invagination and hydrocephalus (Forlino et al 2011; Brizola et al 2017)
The COHIP-SF questionnaire (Broder et al 2012) was selected as it has been validated for children from 8 to 16 years old and used in similar studies related to conditions such as cystic fibrosis (Patrick et al 2016)
Summary
Osteogenesis imperfecta (OI), known as ‘brittle bone disease’ (Forlino et al 2011), is a genetic condition resulting from a mutation in the genes involved in the modification or formation of collagen (Byers et al 1989). It affects type I collagen, and can be associated with dentinogenesis imperfecta (DI), a genetic disorder of teeth (Okawa et al 2017). Diagnosis of OI is made based on several parameters These include clinical evaluation of a child who has several bone fractures early in life, family history of OI, radiographic appearance and genetic testing (Marini et al 2017). Another typical feature is short stature, which may be due to:
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