Diseases and comorbidities associated with early-onset scoliosis: a retrospective multicenter analysis.

PURPOSE: To determine the frequencies of various diseases associated with all types of early-onset scoliosis, both idiopathic and nonidiopathic. METHODS: Retrospective collection of patients within a 21-year interval. Children under 10 years old presenting with scoliosis were included. Medical records were used to collect: identifier, date of birth, sex, diagnosis, follow-up, curve pattern, comorbidities, initial and final cobb angle. Different patient variables were tabulated with associated comorbidities for comparison. RESULTS: The cohort contained 469 patients, with 227(48.4%) males and 242(51.6%) females. Total comorbidities equaled 1051, where 190 were unique. Only 124(26.4%) patients had an isolated diagnosis of early-onset scoliosis, 79(16.8%) had a single comorbidity, and 266(56.7%) had multiple comorbidities. "Global developmental delay" was most commonly observed, 198(42.2%) times. The central nervous system was involved more often than other organ systems, seen in 394(54.4%) instances. Males had more comorbidities than females. Idiopathic patients had the least number of comorbidities, while neuromuscular patients had the most. Idiopathic types had more musculoskeletal conditions, while congenital types had more cardiovascular diseases. Curve sides did not affect distributions. Cases which progressed had more comorbidities, especially in the respiratory, digestive, and cardiovascular systems. Diseases that could affect either extremity or side, were more likely to be bilateral. CONCLUSIONS: Early-onset scoliosis patients may present with complex comorbidities in multiple organ systems. The most commonly observed disease entities were: global developmental delay, developmental dysplasia of the hip, and epilepsy. Clinicians should be aware of the common associations, in order to screen for and begin appropriate investigations, referrals, and treatments in affected cases. LEVEL OF EVIDENCE: Level III.

Deriving a Novel Score for the Stratification of Risk Progression in Early-onset Scoliosis: A Multicenter Initiative.

STUDY DESIGN: This was a retrospective multicenter study. OBJECTIVE: To develop a novel progression risk stratification scoring system for early-onset scoliosis. SUMMARY OF BACKGROUND DATA: There is a lack of investigations into variables affecting the risk of curve progression in early-onset scoliosis, which prevents stratification. A novel risk score system is needed to help in progression risk estimation. METHODS: A retrospective analysis was done at three centers, from 1995 to 2020. Scoliosis cases before the age of 10 years, were included. Medical identifier, date of birth, sex, primary diagnosis, curve type, date/modality of treatment, date of follow-up appointments, and Cobb angles, were collected. Five ranks were selected for stratification. Categories with the same ranks were discarded. Point scores started at 0, for the lowest risk, and ended at 4, for highest risk. Iterations of variable combinations were conducted and clinical relevance was determined by evaluating sensitivity, specificity, positive predictive value, and negative predictive value based on score ranges for low and high risk of progression. RESULTS: A total of 476 (230 males, 246 females) early-onset scoliosis patients were collected. The average age at diagnosis was 4.8 years (SD±2.8 yr). The average follow-up duration was 9.3 years (SD±6.9 yr, range: 5 mo-38 yr). Appointments totaled 2911, giving 2182 observations for the analysis. Patient observations numbered: 800 (36.7%) ending in progression, 1265 (58.0%) for nonprogression, 117 (5.4%) for inadequate follow-up, and 368 (16.9%) for rapid progression. The risk scoring system contained four categories: etiology, age, curve magnitude, and curve type. Categorized point combinations totaled 755, giving 1975 iterations. Sensitivity, specificity, positive predictive value, and negative predictive value were calculated to be 85.8%, 96.5%, 89.7%, and 95.1%, respectively. CONCLUSION: A novel progression risk score for early-onset scoliosis was derived. The system can reliably differentiate between low and high-risk cases in clinical settings. Further validation in other regions may be important for verifying clinical relevance. LEVEL OF EVIDENCE: Level 3.

The incidence and prevalence of early-onset scoliosis: a regional multicenter epidemiological study.

BACKGROUND CONTEXT: Despite the many advances in understanding and treating early-onset scoliosis, the incidence and prevalence of this disease in the population remains unknown. Such knowledge is important for guiding clinical practice, directing research and raising awareness. PURPOSE: To identify the incidence and prevalence of early-onset scoliosis, including all categories, within the population. STUDY DESIGN: A regional multicenter retrospective cohort study PATIENT SAMPLE: All patients diagnosed with early-onset scoliosis in the region, who were followed-up between January 2000 and December 2020. OUTCOME MEASURES: Frequency distributions for early-onset scoliosis subtypes, demographics, curve patterns and progression statuses. METHODS: Relevant population data, for children under 10 years old, was extracted from the official government census for the years 2000 to 2020. Identification of cases was carried out by pediatricians at mandatory government funded regular child wellness check-up visits. Outpatient records were reviewed for all included patients, with extraction of the following: Medical identifier, date of birth, date of initial visit, sex, primary diagnosis, length of follow-up, curve pattern, initial cobb angle, and final cobb angle. Incidence and prevalence values were calculated using population figures and case numbers. Kaplan-Meier survival analysis and Log-rank testing was performed on curve progression data. RESULTS: The regional population of children, under the age of 10 years, included a total of 2,295,929 children, 1,170,149 (51.0%) males and 1,125,780 (49.0%) females, between the years 2000 and 2020. Early-onset scoliosis cases followed within the same timeframe, totaled 469 patients, 227 (48.4%) males and 242 (51.6%) females. The annual incidence of early-onset scoliosis was found to be 0.019% (95% CI: 0.015%-0.023%), and the prevalence was 0.077% (95% CI: 0.059%-0.096%). The most common age at first presentation was 6 years old. More females (51.6%) than males (48.4%) were observed, and more left-sided curves (54.2%) than right-sided curves (45.8%) were encountered, with the majority being single thoracic curves (38.2%). Scoliosis curves did not progress in 44.3% of cases, while they progressed in 38% of them. Follow-up was inadequate to determine progression status in 17.7% of cases. Neuromuscular etiologies were the most common, at 40.1%, of which 83.5% had cerebral palsy. CONCLUSIONS: Based on the regional population included in this study, the annual incidence of early-onset scoliosis in children under 10 years old was calculated to be 0.019%, while the prevalence of early-onset scoliosis in children under 10 years old was found to be 0.077%.

Change in mobility function and its causes in adults with cerebral palsy by Gross Motor Function Classification System level: A cross-sectional questionnaire study.

BACKGROUND: The prognosis for mobility function by Gross Motor Function Classification System (GMFCS) level is vital as a guide to rehabilitation for people with cerebral palsy. OBJECTIVE: This study sought to investigate change in mobility function and its causes in adults with cerebral palsy by GMFCS level. METHODS: We conducted a cross-sectional questionnaire study. RESULTS: A total of 386 participants (26 y 8 m, SD 5 y 10 m) with cerebral palsy were analyzed. Participant numbers by GMFCS level were: I (53), II (139), III (74) and IV (120). The median age of participants with peak mobility function in GMFCS level III was younger than that in the other levels. 48% had experienced a decline in mobility. A Kaplan-Meier plot showed the risk of mobility decline increased in GMFCS level III; the hazard ratio was 1.97 (95% CI, 1.20-3.23) compared with level I. The frequently reported causes of mobility decline were changes in environment, and illness and injury in GMFCS level III, stiffness and deformity in level IV, and reduced physical activity in level II and III. CONCLUSIONS: Peak mobility function and mobility decline occurred at a younger age in GMFCS level III, with the cause of mobility decline differing by GMFCS level.

Awareness of folic acid use increases its consumption, and reduces the risk of spina bifida.

The majority of neural tube defects were believed to be folic acid (FA)-preventable in the 1990s. The Japanese government recommended women planning pregnancy to take FA supplements of 400 µg/d in 2000, but the incidence of spina bifida has not decreased. We aimed to evaluate the OR of having an infant with spina bifida for women who periconceptionally took FA supplements and the association between an increase in supplement use and possible promoters for the increase. This is a case-control study which used 360 case women who gave birth to newborns afflicted with spina bifida, and 2333 control women who gave birth to healthy newborns during the first 12 years of this century. They were divided into two 6-year periods; from 2001 to 2006 and from 2007 to 2012. Logistic regression analyses were conducted to compute OR between cases and controls. The adjusted OR of having an infant with spina bifida for supplement users was 0.48 in the first period, and 0.53 in the second period. The proportion of women who periconceptionally consumed supplements significantly increased from 10 % in the first period to 30 % in the second period. Awareness of the preventive role of FA was a promoter for an increase in supplement use, and thus an FA campaign in high school seems rational and effective. The failure of the current public health policy is responsible for an epidemic of spina bifida. Mandatory food fortification with FA is urgent and long overdue in Japan.