Pediatrics International最新文献

Background: Patients with short bowel syndrome (SBS)-associated intestinal failure (SBS-IF) are dependent on parenteral support (PS). In Japan, teduglutide is the only GLP-2 analog medicine indicated for these patients. There are limited data for pediatric patients, especially those with a low body weight. This study evaluated the safety and efficacy of teduglutide in Japanese pediatric patients with SBS-IF (dependence on PS to provide ≥30% of fluid or caloric intake needs) who weighed less than 10 kg.

Methods: This phase 3, open-label study enrolled Japanese pediatric patients with SBS-IF. Patients weighing less than 10 kg received teduglutide 0.05 mg/kg/day subcutaneously in 28-week treatment cycles (24 weeks of teduglutide treatment and 4 weeks of follow-up). Adverse events, changes in PS requirements, and growth parameters were assessed.

Results: Three patients completed the study, with a mean teduglutide exposure duration of 48.9 weeks. All patients experienced treatment-emergent adverse events (TEAEs), but none were related to the study drug or led to death or treatment discontinuation. Clinically meaningful reductions in mean PS volume (13.1%) and mean PS caloric intake (46.6%) were observed at the end of treatment from baseline. One patient achieved a reduction in PS volume of ≥20% at the end of treatment from baseline. Growth parameters showed increases in weight and height/length-for-age z-scores at the end of treatment from baseline.

Conclusion: In the three patients with SBS-IF who weighed less than 10 kg, no new safety signals were observed following teduglutide treatment. Clinically meaningful reductions in PS were noted and there was no adverse impact on growth parameters.

Trial registration: ClinicalTrials.gov registration number: NCT05027308.

Background: Ataxia-telangiectasia (AT) is a rare disorder leading to multisystem involvement due to impaired DNA repair. Recent advances in targeted therapies highlight the importance of early diagnosis. This study aimed to evaluate clinical, radiological, and genetic variability in patients with AT and examine genotype-phenotype associations and diagnostic timing.

Methods: A retrospective study was conducted on genetically confirmed AT patients followed in four pediatric neurology centers in Türkiye over a 12-year period.

Results: A total of 21 patients with AT were included; the median age at symptom onset was 26 months, and the median age at diagnosis was 60 months, with a diagnostic delay of 21 months. Ocular telangiectasia was present in all patients. Ataxia, oculomotor apraxia, and dysarthria were other common features. Involuntary movements and strabismus were each observed in 52.4%. Cerebellar atrophy was noted in 57.1%, and decreased immunoglobulin levels in 95.2%. No significant differences in the frequency of clinical findings were observed between early and late diagnosis groups, except that recurrent respiratory tract infections were significantly more common in the early-diagnosis group (p = 0.035).

Conclusion: In this study, clinical variability and key clinical features of AT were identified. AT should be suspected and immunoglobulin levels assessed in patients with neurological symptoms and recurrent infections. Improving recognition of AT may contribute to earlier diagnosis and better outcomes.

Background: VACTERL association (VA) is a well-known group of congenital defects affecting multiple organs. Although esophageal atresia (EA) has been reported in 50%-80% of patients with VA, only a few studies have compared EA with and without VA.

Methods: This retrospective study reviewed the data of patients diagnosed with EA in Seirei Hamamatsu General Hospital between January 2000 and March 2025. The data analyzed included sex, age, anatomic EA type, and VA diagnosis. Data were compared between the patients of EA with VA and those of EA without VA.

Results: During the study period, 37 patients, including 17 male and 20 female patients, were diagnosed with EA; of these, 11 (29.7%) were also diagnosed with VA. The incidence of a long gap was significantly higher in patients of EA with VA (54.5%) than in those of EA without VA (19.2%). The mean age at esophageal reconstruction was significantly higher in patients of EA with VA (208.5 days) than in those of EA without VA (47.2 days).

Conclusion: To the best of our knowledge, this is the first study to report a significantly higher incidence of a long gap in patients of EA with VA compared to those of EA without VA; this result might be associated with a significant difference in the mean age of esophageal reconstruction between the two patient groups. These findings raise the possibility that the incidence of a long gap might be higher in patients of EA with VA than in those of EA without VA.

Background: Pediatric pharmacokinetics (PK) differ from adults due to their unique developmental stages and physiological immaturity. However, the lack of pediatric-approved drugs often necessitates the off-label use of adult-approved medications, thereby burdening the healthcare providers with dosing decisions and leaving pediatric efficacy and safety uncertain. We defined pediatric off-label use as the prescription to pediatric patients of medications for which only dosages for adults are specified in the package insert and quantified its prevalence in Japan.

Methods: Data from the National Database (NDB) sampling dataset (July and October 2022 and January and April 2023) on oral/injectable medications prescribed to children aged 0-14 years were analyzed to assess off-label pediatric use. Cross-tabulations were conducted to examine pediatric indication categories, as specified in package inserts, across different pediatric age groups and Anatomical Therapeutic Chemical (ATC) classifications. Due to the higher prevalence of off-label use among inpatients, detailed analyses quantified the proportion of pediatric off-label users by ATC level 2 (≥150 users) and identified specific active substances used off-label in neonates/infants (≥50 users).

Results: Overall, pediatric off-label use was 24% in inpatients and 14% in outpatients. Notable variability was observed across the ATC classifications. Specifically, the off-label use was 1.9% for antibacterials (J01), 32.5% for antineoplastics (L01), and 65.5% for diuretics (C03).

Conclusions: This NDB-based study offers foundational nationwide data on pediatric off-label use, revealing delays in pediatric medication development and inconsistencies in package inserts that vary across age groups and therapeutic areas, insights that can help improve safety and optimize pediatric healthcare delivery.

Background: The combination of thiopurines and partial enteral nutrition (TP/PEN) is a common maintenance therapy for mild-to-moderate Crohn's disease (CD) in pediatric patients. However, no studies have investigated the efficacy of TP/PEN. This study aimed to evaluate the non-relapse and complete mucosal healing rates in pediatric CD patients following treatment with or without TP, in addition to PEN.

Methods: This retrospective observational study included 39 pediatric patients diagnosed with mild-to-moderate CD. Based on the proposed treatment, the patients were divided into the TP/PEN and PEN-only groups. The primary outcome was the relapse-free rate between the two groups. Relapse was defined as a pediatric Crohn's disease activity index (PCDAI) >12.5, Simple Endoscopic Score-CD (SES-CD) score >7, Lewis score > 135, and/or abnormal C-reactive protein levels (CRP > 0.15 mg/dL). The secondary outcome was complete mucosal healing (SES-CD score 0) at 12-24 months.

Results: Although the difference in non-relapse rate between the two groups was not statistically significant, complete mucosal healing rates were significantly higher in the TP/PEN group than in the PEN-only group. Complete mucosal healing at 12-24 months was achieved in 7/21 (33.3%) and 1/18 (5.5%) patients in the TP/PEN and PEN-only groups, respectively (p < 0.05).

Conclusion: Nowadays, more treatment options are available, and TP/PEN remains a viable option for the treatment of mild-to-moderate CD in pediatric patients.

Background: To assess the clinical validity and reliability of the Neonatal Pain, Agitation, and Sedation Scale (N-PASS) for acute pain in infants with illnesses treated in the neonatal intensive care unit (NICU).

Methods: Data of 32 infants were collected. NICU nurses measured pain and distress scores using the Japanese version of the N-PASS (henceforth, N-PASS-J) at baseline and during skin puncture. To determine internal consistency, discriminant validity, and convergent validity, we calculated Cronbach's alpha, conducted a one-way repeated measures ANOVA, and examined correlation coefficients with established pain measurement tools.

Results: Data were collected for 122 scenes: 61 at baseline and 61 at the time of the skin puncture. The median (IQR) gestational age of participants was 32 (29-37) weeks, and corrected gestational age at measurement was 33 (30-37) weeks. Cronbach's alpha for the five N-PASS-J items was 0.93. Pain and distress scores were significantly higher at the time of blood collection than at rest (mean ± SD) (baseline: 0.3 ± 0.6; skin puncture: 5.2 ± 2.4, F (1, 120) = 232.5, p < 0.0001). The correlation coefficient between the distress scores and the Face Scale for Pain Assessment Preterm Infant score was 0.91.

Conclusions: The N-PASS-J is a dependable and valid instrument for assessing acute pain in infants with illness treated in the NICU.