Challenges of delivery of dental care and dental pathologies in children and young people with osteogenesis imperfecta

Abstract

Background Osteogenesis imperfecta (OI) is the most common inherited disorder of bone fragility in children, increasing fracture risk 100-fold and can feature dental and facial bone involvement causing additional morbidities. Aim To assess the utilisation of tertiary dental services by children and young people with OI attending a supra-regional multidisciplinary OI service and review of the pathology identified and interventions undertaken. Design Case notes review of the current caseload of children and young people (0-18 years) with OI at a large regional OI specialist centre (n = 92). Primary outcome was whether an initial dental assessment was arranged in a tertiary dental centre and the corresponding attendance. Results 49% had a tertiary dental assessment arranged, of whom 82% attended (one quarter requiring several appointments) and 18% did not attend (DNA).Those travelling > 100 miles had a DNA rate of 47%. Assessed children had dentinogenesis imperfecta (24%, 50% in Type III OI), radiographs (95%), caries (41%), required extraction under general anaesthesia (38%) and malocclusion (30%). 48% of the total cohort received bisphosphonates. Conclusion Tertiary dental assessment encountered barriers to uptake of recommended referral in all patients, often due to geographic factors of travel distance, yet when implemented did identify pathology in a large proportion and many resulted in dental intervention. These emphasise the relevance of specialist dental assessment in OI, particularly in the modern context of increased use of bisphosphonates. This is challenging to achieve and several models of delivery of care may need to be considered in this chronic childhood condition.

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review

“…Of 15 unique records (4 abstracts, 11 full texts) [ 13 , 30 , 33 – 45 ], most included children ( n = 7, 46.7%); fewer records including adults or mixed populations were identified ( n = 4, 26.7% each). Records described the utilisation of services ( n = 10) [ 13 , 30 , 36 – 41 , 45 , 46 ], experience with services ( n = 3) [ 35 , 41 , 42 ], progression through the healthcare system ( n = 2) [ 33 , 35 ] and interactions with specific healthcare professionals or consultants ( n = 9) [ 13 , 33 – 37 , 41 – 43 ]. While many records described ante- and postnatal care ( n = 4) (39) [ 40 , 45 , 46 ], occupational and physical therapy ( n = 4) [ 37 , 41 – 43 ] and multidisciplinary care approaches ( n = 5) [ 13 , 33 – 35 ], fewer records described dental care [ 36 ] and outpatient care ( n = 1 each) [ 38 ].…”

Dental phenotype in an adolescent with osteogenesis imperfecta type XII

“…Clark et al reported the real-life challenges in referring individuals with OI to a tertiary dental clinic for further assessment, with the main barrier being geographic factors and need of extra travel. 23 In addition, individuals with OI usually have relatively short neck and some extent of immobility, which makes routine dental examination even more challenging. 5 This underscored the advantage of joint assessment in a combined multidisciplinary clinic with orthopaedic surgeons, paediatric endocrinologist/paediatric bone specialist, geneticist and dental specialists of oral and maxillofacial surgeon and orthodontist.…”

“…However, it could be challenging practically. Clark et al reported the real-life challenges in referring individuals with OI to a tertiary dental clinic for further assessment, with the main barrier being geographic factors and need of extra travel 23. In addition, individuals with OI usually have relatively short neck and some extent of immobility, which makes routine dental examination even more challenging 5.…”

Oral manifestations and rehabilitation of a patient with osteogenesis imperfecta

“…Osteogenesis imperfecta (OI) is a rare heterogeneous group of connective tissue disorders characterized by increased fragility of the bony tissue. [1] Its estimated frequency in the general population is about 1 in 15.000 to 20.000 new-borns [2,3]. Most patients have dominant mutations in one of two genes, COL1A1 and COL1A2, which code the collagen type I synthesis [4,5].…”