Turkish archives of pediatrics最新文献

Objective: The Movement Imagery Questionnaire for Children (MIQ-C) was developed as a tool to evaluate children's imagery capabilities. It comprises 3 subcomponents: internal visual imagery, external visual imagery, and kinesthetic imagery. This study aimed to cross-culturally adapt the MIQ-C to Turkish. Materials and Methods: A total of 120 healthy children (mean age 9.43 ± 1.66 years; 67 males and 53 females) were enrolled. The structure of the questionnaire was confirmed by the use of both construct and criterion validity. The questionnaire was administered to the children at intervals of 1 week to assess internal consistency and test-retest reliability. Results: The confirmatory factor analysis validated the 3-factor construct of the MIQ-C, and the model showed a satisfactory fit to the data set. The internal consistency of the Turkish MIQ-C (Cronbach's α coefficient = 0.94) and the intraclass coefficient (ICC) reliability (ICC values ranging from 0.93 to 0.96) were found to be excellent. Conclusion: The present findings suggest that the Turkish version of the MIQ-C is a valid and reliable instrument for the assessment of imagery ability in Turkish-speaking children.

Objective: Investigating long-term asthma treatment adherence and influencing possible factors in preschool children with persistent asthma during the coronavirus disease 2019 (COVID-19) pandemic, this study compared the year before and the first year of the pandemic. Materials and Methods: Preschoolers on daily inhaled corticosteroids (ICSs) for at least a year before the pandemic due to persistent asthma, were surveyed to assess treatment adherence, its causes, and possible factors like respiratory infections, and preschool attendance. Medical records were used to assess exacerbations and control. Results: Out of 229 screened cases, 62 were included. During the first pandemic year, 51.6% discontinued daily inhaler treatment, with most discontinuations occurring in the first 3 months. The most common reason for discontinuation cited is the absence of asthma symptoms (90.6%). In the year before the pandemic, only ICSs dosage (P: .010) significantly impacted asthma treatment adherence. During the first pandemic year, possible factors like respiratory infections, COVID-19, preschool attendance, and smoking didn't affect adherence (P > .05). Conclusion: In preschool children with persistent asthma, adherence to ICSs treatment decreased by half during the first pandemic year. Traditionally influential possible factors on treatment adherence did not show significant differences between those who discontinued and those who continued treatment, likely due to the exceptional circumstances resulting from the pandemic.

Objective: Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder caused by EFNB1 pathogenic variants. It is characterized by coronal synostosis, facial asymmetry, hypertelorism, bifid nasal tip, woolly hair, longitudinal nail ridging, and skeletal anomalies in heterozygous females. Hemizygous males paradoxically display a less severe phenotype. This study aims to further define the clinical and mutational spectrum of CFNS in 8 new families. Materials and Methods: Nine female and 2 male patients were included. After detailed phenotypic characterization, Sanger sequencing of EFNB1 was performed, followed by deletion duplication analysis of mutation-negative patients. Results: Universal findings in affected females included wide nasal bridge, hypertelorism, and nasal tip abnormalities. Clinical features were consistent with literature data in the majority, except for 2 females with a mild phenotype resembling hemizygous males. Rare or previously undescribed features included enlarged cisterna magna, nasolacrimal duct obstruction, mesoaxial polydactyly, small echogenic kidney, and hypoplastic labia minora in females, and metopic groove, columellar skin pit, and absent midline mustache hair in males. Genetic analyses identified 6 EFNB1 variants, including a novel variant, heterozygous in females and hemizygous in males. One female patient with a classical CFNS phenotype had no identifiable EFNB1 variant. Conclusion: This study of the largest CFNS cohort from Türkiye expands the phenotypic spectrum in affected males and females and contributes to the genetic landscape of EFNB1 variants. Two females of the cohort with a phenotype at the mildest end of the CFNS spectrum emphasize the importance of recognizing atypical CFNS presentations for timely diagnosis and accurate genetic counseling.

Objective: Various assessment scales have been developed to evaluate the severity of critical conditions in patients admitted to neonatal intensive care units (NICUs), predicting the length of stay, likelihood of complications, and death. Congenital anomalies, though a significant portion of NICU admissions, are often excluded from such studies. The aim of our study was to compare the informativeness of different scoring systems in the assessment of critical patients with congenital anomalies treated in the NICU, as well as their applicability in predicting complications and fatal outcomes. Materials and Methods: Between 2019 and 2022, we evaluated the severity of the critical condition of 921 newborns diagnosed with congenital anomalies at the Scientific Research Pediatric Institute named after K. Farajova using the National therapeutic intervention evaluation system (NTISS), scores for neonatal acute physiology (SNAPPE II), clinical risk index for babies (CRIB), and the mortality index for neonatal transportation score (MINT) scales. Results: Of the 921 neonates with congenital anomalies admitted to the NICU in critical condition, 271 (29.4%) were preterm (≤37 weeks) and 650 (70.6%) were term. In 921 patients diagnosed with congenital anomalies, the mean NTISS score according to the scales was 18.6; SNAPPE II 14.2; CRIB 4.6; MINT 6.9. In these patients, when the mean score of preterm and term births was compared according to gestational week, the SNAPPE II and MINT points were statistically significantly higher in preterm babies than terms. In the comparative analysis between the patients of the surviving and lethal groups, it was found that all the scales (SNAPPE II, NTISS, CRIB, MINT) were statistically significant. Conclusion: National therapeutic intervention evaluation system, SNAPPE II, CRIB, and MINT scales are useful in predicting mortality in newborns with congenital anomalies. However, these scales do not account for the severity of the congenital anomalies, system damage relationships, complication effects, or treatment needs (need for surgical intervention). Tailored scale usage corresponding to medical service levels in different countries would improve affordability and predictability.

Objective: Pakistan ranks third in newborn mortality. The study aims to examine any socioeconomic disparities in 48-hour newborn care practices in Pakistan using 6 signal functions. Materials and Methods: Using R (version 4.3.1), a secondary analysis of 3936 mothers' Pakistan Demographic and Health Survey 2017-2018 data was performed. Newborn care practices in 48 hours of life were measured using 6 indicators: cord examination, temperature measurement, danger sign counseling, breastfeeding counseling, breastfeeding observation, and weight measurement. The outcome variable was defined as completing at least 2 signal functions. The frequencies of explanatory variables were estimated using descriptive analysis. Multivariate logistic regression was performed between independent variables and at least 2 signal functions. Results: Among mothers practicing the most newborn care, 71.8% were from urban areas, 81.9% were among the richest, 68.9% had institutional deliveries, 71.3% had 4 or more antenatal care (ANC) visits, 81.5% had cesarean sections (C-sections), and 68.1% were attended by skilled birth attendants. After adjusting for covariates, the likelihood of having at least 2 signal functions was 2.46 times greater for C-sections and 1.58 times greater for institutional deliveries, 2.41 times more probable for mothers with over 4 ANC visits, 1.75 times more likely for those with skilled birth attendants, and 1.64 times more common for the richest mothers. Conclusion: Wealth, C-sections, institutional births, skilled birth attendants, and frequent ANC visits were related to higher care levels, indicating the need for targeted measures in vulnerable populations.

Objective: Kawasaki disease (KD) poses a significant risk of childhood-acquired coronary artery disease. There is a notable scarcity of comprehensive KD data from low- and middleincome Arab countries, giving rise to concerns about the underestimation of KD outcomes. To bridge these gaps, the Kawasaki disease Arab initiative (Kawarabi) was established to reinforce education, advocacy, and enhance patients' health outcomes. This project's primary objective is to assess the economic burden and disease-related costs affecting KD management in the Arab world, contextualized within the economic status and healthcare infrastructure of each respective country. Materials and Methods: The project employs a thorough pharmacoeconomic (PE) analysis, emphasizing societal implications, including patient expenses, hospital costs, and impacts on both the public healthcare system and private insurers. A multifaceted cost analysis methodology considers the impact of delays in acute management and potential cardiac complications, addressing hypothetical scenarios to quantify costs associated with different outcomes. Results: Unique perspectives of PEs in Arab countries and its crucial role in informing healthcare decision-making are analyzed. The project delves into the transformative role of PEs in healthcare systems. The project's exploration of KD in the Arab world anticipates significant contributions to the global understanding of KD challenges. The commitment to overcoming obstacles and addressing health disparities through the transformative lens of PEs reflects a dedication to making a positive impact on KD-related public health. Conclusion: The project is emphasized by offering actionable recommendations for KD management in low- to moderate-income Arab countries, in particular, and the Middle East, in general.