Table 1 Narrative synthesis of included records on clinical events and conditions
Condition | N | Findings | Records |
|---|---|---|---|
Bone, joint, and musculoskeletal | 97 | Widely described in the literature, across various geographies and populations and prevalent in individuals with OI. Fractures (n = 69), general skeletal deformity (n = 17), scoliosis/kyphosis (n = 28) and hypermobility (n = 12) were well described, few records included information on basilar invagination (n = 7), Wormian bones (n = 10), chest deformities (n = 4), acetabular protrusion (n = 2), sprains (n = 1) and dislocations (n = 1) | [13, 30,31,32, 34, 37, 40, 43, 46, 78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165] |
Anthropometric measures | 62 | Mostly reported in the paediatric population, including height (n = 54), weight (n = 35), and BMI (n = 17). Fewer records of cephalometric measurements (n = 12), relative arm span (n = 7), body surface area measurements (n = 6), tibia length (n = 1) and skinfold thickness (n = 1) | [13, 31, 37, 46, 79, 80, 83, 93, 95, 96, 98, 99, 101, 103, 112,113,114,115, 121, 122, 124, 125, 129, 131,132,133,134, 139, 142, 143, 149, 151, 154, 158, 160,161,162,163, 166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189] |
Oral | 45 | Most described dentinogenesis imperfecta (n = 42). Few records included caries (n = 3), agenesis (n = 3), taurodontism (n = 3), temporomandibular problems (n = 4) and occlusions (n = 9) | [29, 31, 79, 85, 86, 89, 90, 96, 97, 100, 101, 104, 111, 115, 116, 121,122,123,124, 132,133,134, 153, 155, 163, 179, 190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209] |
Mobility | 34 | Ambulation is well described (n = 29). Fewer records provided data on motor development (n = 14), age of sitting (n = 2), age of gait acquisition (n = 4) and abnormal motor development (n = 4) | [13, 34, 43, 82, 90, 92, 95, 97, 105,106,107,108, 110,111,112, 116, 122, 124, 125, 129, 140, 147, 151, 163, 164, 180, 185,186,187,188, 210,211,212,213] |
Ophtalmological | 29 | Prevalence of grey and blue sclera is well documented (n = 27). Few records described other ophthalmological conditions (n = 1) and vision problems (n = 2) | [13, 31, 79, 81, 85, 86, 89, 90, 96, 99,100,101, 103, 111, 115, 116, 121,122,123,124, 132,133,134, 139, 155, 158, 163, 190, 214] |
Audiological | 21 | Hearing loss is well-described (n = 23) and reported to be prevalent in individuals with OI. Few records of conditions unrelated to hearing loss were identified (n = 2). Most records included adults | [13, 29, 31, 89, 90, 93, 96, 101, 106, 111, 115, 116, 122, 123, 190, 212, 215,216,217,218,219] |
Cardiovascular | 15 | Records provided clinical heart measurements (n = 11) and information on valvular disease (n = 8), while heart failure (n = 2), hypertension (n = 3) and atrial fibrillation (n = 1) were not well-described | [13, 29, 139, 142, 151, 170, 175, 182,183,184, 220,221,222,223,224] |
Pulmonary | 11 | Four records described breathing problems and respiratory disease. Few data on wheezing (n = 2) and respiratory arrest (n = 1) were identified. In most records which provided participants’ OI type it was self-reported (n = 5) which may limit the generalisability of the identified data | |
Other conditions | 10 | Records described bruising and skin conditions (n = 4), GI tract issues (n = 2), kidney stones (n = 3), neurological problems (n = 2), diabetes (n = 1), and abnormal platelet counts (n = 1) | |
Muscle strength | 7 | Individuals with OI may have lower muscle strength compared with the overall population; however, all records were conducted in children with OI. No records of muscle strength in adults were included | |
Women’s health | 5 | Records evaluated pregnancy and birth, suggesting that women with OI may experience higher risk pregnancies compared with other women and may be at a high risk of fracture during pregnancy and post-partum. Women with OI may be more likely to deliver by caesarean section compared with the overall population. No records of other women’s health issues were identified | |
Survival | 5 | Individuals with more severe OI types are more likely to experience excess mortality. Leading causes of death in the OI population were respiratory and cardiovascular conditions. No records of mortality, life expectancy and survival from non-western or Northern European regions were included | |
Treatment-related | 4 | All records provided data on long-term treatment-related conditions and events in children, but not in adults | |
Sleep a | 4 | Sleep conditions were reported to be prevalent in individuals with OI |