To reflect the HRQoL, the actual diagnosis and treatment status of the OI populations in southwest China. All the patients with OI under 18 years old were included. Only one OI child suffered from kidney stones caused by melamine-tainted milk powder was excluded. Published studies have used different tools to assess the HRQoL in children and adolescents with OI, such as the PedsQLTM4.0, PEDI, WeeFIM, ISLQ, Form-36, The EQ-5D-5L, and a qualitative research. There was no specialist scale for OI. To make a comparison with healthy populations, a lot of studies had used PedQoLTM4.0 to assess the HRQoL in OI populations around the world.
Low educational level and their family
Dropping out of school would be an important reason for the low educational level, which could lead to a discriminated in employment and a low income in OI adult populations. In a 2013 report of China, the education level of OI adults are generally low, accounting for 13.5% of college degree or above[15]. In this study, all the preschool children with OI did not go to kindergarten as usually. One quarter (6/24) of school-age OI patients had dropped out for the self and external factors. Some parents of OI rejected to go to school for safety or hospitalization. In their opinions, children are prone to a fracture without their supervision. Some of them had been rejected by the school. Adopting a student with OI would increase the teaching cost due to added accessible facilities or accidents. Low education would reduce the employment opportunities for OI adults. A survey of the OI population in China shows that OI adults are discriminated in employment and have low incomes, with the exception of self-employment[15]. People with OI mostly engage in simple work and have low income, while self-employed people have high income [15].
Low education of parents made it more difficult to understand this disease, ignored the severity of OI, thus it would limit the treatment of disease. Education level of OI patients’ caregivers was under the average in China. Compared with the data in 2019 China Yearbook[16]. 34.03% were senior high school vs 22.22% in OI population, 14.95% were junior high school vs 37.04% in OI population, 14.14% were primary school vs 37.04% in OI population. Compared with the Song’s study conducted in Beijing[4], 34.8% were University and above vs 3.70% in this study, 22.6% was senior high school vs 22.22% in this study, 39.1% were junior high school vs 37.04% in this study, 3.5% were primary school vs 37.04% in this study. The lack of genetic knowledge about OI could lead to a family cluster. In this study, 2 families have more than 2 kids with OI, because their parents did not know OI could be inherited by birth. In Song’s[4] study conducted in Beijing, the patients receiving endocrine therapy was more (77% vs 55,56%) than that in this study, whether the patients receiving surgical correction was not been reported, this was 77.78% in this study. The patients with guardian in low education level or a lack of disease information would decrease their opportunities to get the standardized treatment. A lot of guardians whose children and adolescents did not have the endocrine therapy complained a lack of the information about the endocrine therapy in this study. Health care education and management of diseases are important for OI families, especially in low education and marginal areas.
Families play an important role in chronic disease management. In this study, 92.59% were taken care of by their parents, 3.7% lived in a single family with his mother divorced for the disease. 74.08% lived in a nuclear family, 22.22% lived in a joint family. 51.85% had more than one kid in their family. Children and adolescents with OI need to be taken care of by at least one person throughout the daily life. This had led to a reduction in household income. The lack of money would interrupt the treatment, which could aggravate the severity of OI. The more severity of the disease would lead to more cost of treatment, even give up, or give birth to a second or third child in their family. Patients with severe phenotypes had poorer HRQoL values than those with mild OI[1]. It is particularly important to establish a correct concept of disease management.
Walking ability, Height, Weight, BMI, dietary habit
With a regular treatment, OI patient could regain their walking ability. It was more difficult to have an assistant device in rural areas, especially an assistant device with suitable size for younger. Children and adolescents with OI were shorter and thinner, with a trend towards obesity for a lack of exercise. Childhood obesity creates a situation where bone is unable to fully adapt to the stresses placed upon it[17].The linear growth patterns, in addition to the marked increase in weight over time, indicate a need for lifestyle modifications early in childhood, especially a need for weight control. Further definition of the anthropometric measures in OI enables patients to begin modifications as early as possible[18]. OI limits the activity of the patients, thus controlling their weight from the diet. Chinese with a diet of carbohydrates, it is necessary to adjust the diet structure, reducing the intake of carbohydrates and increasing the intake of high-quality protein, fresh fruits and vegetables. Surgery to control weight had been reported. Weight loss surgery effectively treated severe obesity in 2 OI patients and substantially improved mobility and HRQoL, theoretically reducing fracture risk[19]. Moderate exercise is recommended for OI populations, such as swimming and walking. Feasible exercise without accident was difficult for OI children. A customized rehabilitation for muscular strengthening and walking was necessary for OI patient in different stage of illness.
Treatment
The treatment of the disease improved over time. 50% and 36.5% of patients had received endocrine therapy and physiotherapy in a study in southern Brazil in 2018[1]. In a report of China in 2012[15], 34.9%,34.9% and 5.3% had received endocrine therapy, surgical therapy, and physiotherapy, and 41% did not receive therapy. The status of treatment is related to the cognition of doctors and patients' families. In these opinions of these families with the patients without any treatment, OI could not be cured, it was no need to relieve the symptoms. Patients who only received endocrine therapy was informed that there was no need to receive surgical therapy. And the parents of OI patients received surgical therapy only did not know about the endocrine therapy. Failure to achieve the therapeutic effect expected by their families and lack of information about OI would reduce the treatment compliance. Families with insufficient understanding of diseases have serious misconceptions about the treatment of diseases. The following misconceptions about OI were mentioned frequently. Such as, “no fresh fracture, no regular outpatient”, “no walking, no fracture”, “There was no need to receive any treatment, if there was no severe fracture, because OI could not be cured, ,”.
In comparison to the medical and surgical therapy, the physical therapy needed to be improved. A lack of professional tools and guidance personnel, or too young to comply physical therapy were always mentioned by their parents. Physical therapy programs and equipment for younger children need to be available.
The HRQoL of children and adolescent with OI
As far as we know, there are litter study focusing on the HRQoL of children and adolescents with OI.As reported by Fano and Vanz, patients with OI had impaired physical functioning in HRQoL, and patients with severe phenotypes had poorer HRQoL values than those with mild OI[1].Bone pain, scoliosis, and activity limitations were postulated to be related to worse physical QOL scores[20]. In a qualitative study about the QOL in children and adolescents with OI, six main themes were identified, being safe and careful, reduced function, pain, fear, isolation, independence[13]. Physical functions were significantly impaired in OI patients, and the disease severity was correlated to HRQoL scores. The physical functions were positively correlated to family income, height Z-score, BMD Z-score at the LS and FN, and negatively correlated to disease severity and fracture frequency in OI patients[7]. For adult, individuals with OI have worse symptom burden and functioning, the scores from most domains differ significantly from the general US population by the Patient-Reported Outcome Measurement Information System (R) (PROMIS (R)[14].
In our study, associated with healthy populations, the HRQoL was lower in all latitude and total score, and the differences in physiological and social functioning and total score were statistically significant. In another study, the HRQoL of OI children were lower than that of healthy children in all latitude and total score, and the differences in all latitude and total score were statistically significant[4]. Patients with severe phenotypes had poorer HRQoL values than those with mild OI[1]. With the proper treatment, the severity of OI had been effectively reduced, the HRQoL had been improved.
Pain
What is known: Pain remains a major issue in OI population. Pain has a negative impact on the HRQoL. But in this study, as the consequence of the multiple-factor analysis, pain caused not by a fracture in the past month did not affect the HRQoL of children and adolescents with OI. “No fracture, no pain” always been talked in OI families. Only 4 of 27 patients had experienced chronic pain in the past one month, pain had been located in the extremities, joints and lower back. One child did not point the location of pain. The proportion of pain was lower than other studies for many reasons. In the study, three of them who experience pain in the last month had surgical orthopedic only, while one of them had endocrine therapy only. The endocrine therapy also had been proved to relieve pain[21]. Compared with another study,19 of 44 patients could feel pain in the past one month, and the multiple linear regression analysis showed that pain score was statistically associated with all PedsQL domains except schooling[1].The different definitions of pain could lead to different findings. In their study, pain means chronic and acute pain. In this study, pain means chronic pain. Children and adolescents with OI experience pain intensity that is mild, yet complex in quality and localized across several body areas[22]. There was no standard method of assessing pain in children and adolescents with OI[23].Children and adolescents at different ages expressed pain differently. Younger children talked about pain in terms of “ouchys” and things “hurting”; older children described pain, hurt and ache, often relating to fractures, but occasionally just the general aches and experience by people with OI[13]. With the chronic pain control is necessary to improve the QOL of OI adults[24],the management of chronic pain was important.
Steep Walking
In the multi-factor analysis, whether a patient was able to walk on feet affected the HRQoL in all domains except school functioning. Fractures aggravate bone deformities and affected the walking ability. Whether there is a fracture in the past one year could not reduce the HRQoL of OI children and adolescents. A study found a negative correlation between HRQoL and number of fractures in OI patients[4].Multiple fractures could lead to bone deformities, which would reduce the steep walking ability. A negative association was observed between hypotonia, number of fractures, and independent walking[25]. It always took more time for OI patients to regain walking ability after lower limb long-bone fracture. The relative risk of fractures generally declines with age[26]. Avoiding fractures was more important in childhood. Avoiding fractures and restoring the ability to steeping independently was of equally important. The presence of impaired bone and muscle in OI leads to a continuous cycle of altered muscle–bone crosstalk with weak muscles further compromising bone and vice versa[27].
Fixing a playmate at less
Fixing a playmate at less was a factor which affected the total score and the social and emotional function of the HRQoL. This was firstly been found in the HRQoL of children and adolescents with OI. Fixing a playmate at less was an objective evaluation index to be measured more easily in clinic. Being able to rank reciprocal friendships, and that having more than one reciprocal friendship increases HRQoL, are important and could be beneficial for developing programs that promote high HRQoL, hence preventing possible maladjustments in a long-term perspective[28].Whether the children and adolescents with OI are the only child of their family had no significant influence on the HRQoL. Kinship was no substitute for friendship. It was easier for a child or adolescent with OI to fix a playmate at less in the schoolyard or neighborhood. School attendance always be associated with the ability to walk independently for children and adolescents with OI.
To sum up, the current status of diagnosis and treatment of OI had an imbalance around the world. In the southwest China, the health care for OI population should be improved, especially for their life and growth after discharge, and the communication with their peers. Training patients to gain steep walking ability and peer companionship could improve the HRQoL of children and adolescents with OI.