Acta Paediatrica最新文献

Aim: Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.

Methods: We performed genetic analyses of seven paediatric patients from unrelated Chinese families. Two patients received GH therapy, and their growth trajectories were monitored over 3.5 and 3 years.

Results: Genetic screening identified six missense mutations (Gly1110Ser, Gly1107Glu, Gly873Arg, Gly456Ala, Gly1062Ser and Gly1182Arg) and one intron variant in COL2A1. All patients (five girls and two boys, ranging from 2 years and 7 months to 12 years) were diagnosed with SEDC, exhibiting disproportionate short stature and skeletal abnormalities. GH therapy resulted in height increases of 0.76 and 0.27 standard deviation scores over 3.5 and 3 years, respectively, with no significant side effects.

Conclusion: This study expands the mutation spectrum of COL2A1 and supports the efficacy and safety of GH therapy in SEDC patients, highlighting the need for multi-center studies to further investigate GH's therapeutic potential.

Aim: The therapeutic approach to differences of sex development (DSD) has changed over recent decades. We aimed to describe the evolution of clinical diagnoses of DSD in children attending a tertiary paediatric centre.

Methods: This retrospective observational study compared diagnoses and management, before and after the introduction of consensus guidelines for DSD in 2006.

Results: The cohort included 87 patients with 46, XY (78.4%), 15 with 46, XX (13.5%) and 9 with sex chromosomal DSD (8.1%). Gonadectomy rates were 27.9%, 6.6% and 66.6% for the respective groups. The mean age at presentation was younger among those with 46, XY than with 46, XX (0.5 ± 2.5 vs. 6.8 ± 8.1 years, p = 0.007) and a higher proportion presented by age one year (93.1% vs. 60.0%, p = 0.001). During 1990-2006, 44 children were diagnosed, and during 2007-2019, 67 children. Prenatal diagnosis increased from 4.5% to 25.4% (p = 0.004). Smaller proportions in the later than earlier period underwent gonadectomy (19.4% vs. 40.9%, p = 0.017) and sex reassignment (1.5% vs. 13.6%, p < 0.02).

Conclusion: Over the three-decade period, the rate of prenatal diagnosis increased and the rates of gonadectomy and sex reassignment declined. These findings reflect a shift towards earlier, individualised multidisciplinary care, which was facilitated by advanced diagnostics.

Aim: To investigate the associations between inflammatory markers and the risk of paediatric feeding disorders (PFD) at 1 year of age in infants with congenital gastrointestinal malformations (CGMs).

Methods: Neonates with CGMs admitted to our NICU and prospectively followed up in our outpatient clinic were included. The presence of PFD was assessed at the 1-year visit using the Montreal Children's Hospital Feeding Scale (MCH-FS). Data on potential risk factors for PFD were retrospectively collected.

Results: Fifty-nine neonates were included. They had a median MCH-FS at 1 year of 25 [IQR = 19-37]. PFD (MCH-FS > 45) was diagnosed in 15% of cases, of which 56% were severe. The number of days with a C-reactive protein (CRP) level > 40 mg/L was significantly higher in the PFD patients. After adjusting for confounding factors, a duration of CRP > 40 mg/L remained significantly associated with PFD at 1 year (OR = 1.23, [1.02-1.47]). Similarly, the number of neonatal surgical procedures (OR = 11.4, [2.15-60.6]) was independently associated with PFD at 1 year.

Conclusion: PFD at 1 year was observed in 15% of newborns with CGMs in our cohort. Our results suggest that sustained severe inflammation caused by surgery and its complications during the neonatal period may have long-term effects on feeding behaviour.

Aim: To review the literature to identify key issues causing variation in clinical practice, assess the knowledge gap, and develop a standardised pathway for managing upper airway obstruction (UAO) in infants with Robin sequence (RS).

Methods: The tripartite framework of evidence-based practice, which included a systematic review of the literature, extensive consultation with a multidisciplinary team of experts, and feedback from the patients was used.

Results: Of the 2672 articles from the initial search, 66 were studied in detail. We identified five pivotal issues prevalent while managing UAO in RS. These issues were addressed systematically to develop an adaptable stepwise standardised pathway. The main pillars of the pathway are (a) early objective assessment of the severity of UAO using polysomnography, (b) graded treatment approach based on centre-specific preferences, (c) early and regular multidisciplinary team discussions and (d) clearly defined criteria for treatment escalation or cessation, discharge and follow-up.

Conclusion: This unique pathway is based on available evidence, consensus of experts and parents' feedback. It provides a stepwise guide to the clinician for the management of UAO in infants with RS, adaptability for centre-specific treatment preferences and framework for future comparisons of different treatments.

Aim: Investigate the longitudinal relationship between physical activity, organised physical activity, fitness, screen time and academic performance among Swedish adolescents.

Methods: Data from 1139 adolescents at age 13, included vigorous physical activity (accelerometry), fitness (submaximal ergometer test), screen time and organised physical activity participation (self-reported) and academic performance (math and Swedish grades at ages 13 and 16 from registry). Academic performance at age 16 was categorised as A-D (higher grades or pass) or E, F (fail or at-risk of failing). Multilevel logistic regression models were used to examine the relationships while adjusting for gender, parental education, parental country of birth and academic performance at age 13.

Results: Higher fitness at age 13 was associated with increased odds of receiving A-D at age 16 (OR: 1.04 per mL, 99% CI 1.00, 1.07, p = 0.003). High screen time during weekdays was associated with reduced odds (OR: 0.40, 99% CI 0.20, 0.81, p = 0.001) compared to low screen time.

Conclusion: Academic performance at the end of compulsory school (age 16) was related to fitness and screen time 3 years earlier. These findings create a paradigm for future randomised controlled trials to explore how influencing these factors might affect academic performance.

Aim: To explore the relationships between body composition, indices of hepatic fibrosis, and sonographic evidence of hepatic steatosis in children with overweight and obesity.

Methods: One hundred and seventy individuals (age 12.7 ± 3.4 years, 38.2% boys) with overweight/obesity (BMI z-score 2.02 ± 0.54) underwent bioelectrical impedance analysis (fat percentage, truncal-to-total fat ratio, muscle-to-fat ratio [MFR]). Hepatic assessments included ultrasonography to detect liver steatosis, alanine transaminase (ALT), aspartate aminotransferase (AST)/ALT ratio, and nonalcoholic fatty liver disease fibrosis score (NFS). A forward logistic regression model, adjusting for sex, age, and socio-economic position, was conducted.

Results: The odds for sonographic hepatic steatosis increased by 3.8-fold for each SD decrease in MFR z-score (OR = 0.263, 95% CI [0.067-1.031], p = 0.05). The strongest correlation among boys was between MFR z-score and AST/ALT ratio (r = 0.530, p < 0.001), whereas the strongest correlation among girls was between fat percentage and NFS (r = 0.503, p < 0.001). Individuals with sonographic hepatic steatosis had higher fat mass (p = 0.003), lower MFR z-score (p = 0.020), greater insulin resistance (p = 0.018), and atherogenic dyslipidemic index (p = 0.037) compared to those without.

Conclusions: We identified sex differences in the association between body composition and hepatic fibrosis indices. The relationship between adverse body composition and increased odds of hepatic steatosis underscores the importance of its assessment within this at-risk population.

Aim: To assess neurodevelopment and growth at 2 years corrected age in children born extremely preterm, supplemented with Limosilactobacillus reuteri or placebo.

Methods: Design: Secondary analysis of register data after randomised double-blind placebo-controlled trial.

Setting: Inclusion at two neonatal intensive care units in Sweden. Local follow-up per national guidelines.

Subjects: 134 infants born at 23-27 weeks' gestation with a birth weight < 1000 g.

Intervention: Daily enteral supplementation with placebo or Limosilactobacillus reuteri DSM 17938 (2.5 × 10⁸ colony forming units), from within 72 h after birth to postmenstrual week 35-36.

Main outcome measures: Bayley-III developmental assessment and auxology at 24 ± 3 months corrected age.

Results: Follow-up data were available for 110 of 117 surviving participants, and 85 children were assessed with Bayley-III. Mean language score after supplementation with L. reuteri was 90 (95% confidence interval: 85-95) compared to 83 in the placebo group (95% CI: 78-88), p = 0.04. No other significant differences in neurodevelopment or growth were observed.

Conclusion: Supplementation with L. reuteri in extremely preterm infants was not associated with altered growth nor general neurodevelopmental outcomes at 2 years while language index was improved. This is interesting given previously reported early improved growth of head circumference.