Turkish archives of pediatrics最新文献

Objective: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in social communication and repetitive behaviors. This systematic review examines the application of artificial intelligence (AI) in diagnosing ASD, focusing on pediatric populations aged 0-18 years. Materials and methods: A systematic review was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. Inclusion criteria encompassed studies applying AI techniques for ASD diagnosis, primarily evaluated using metriclike accuracy. Non-English articles and studies not focusing on diagnostic applications were excluded. The literature search covered PubMed, ScienceDirect, CENTRAL, ProQuest, Web of Science, and Google Scholar up to November 9, 2024. Bias assessment was performed using the Joanna Briggs Institute checklist for critical appraisal. Results: The review included 25 studies. These studies explored AI-driven approaches that demonstrated high accuracy in classifying ASD using various data modalities, including visual (facial, home videos, eye-tracking), motor function, behavioral, microbiome, genetic, and neuroimaging data. Key findings highlight the efficacy of AI in analyzing complex datasets, identifying subtle ASD markers, and potentially enabling earlier intervention. The studies showed improved diagnostic accuracy, reduced assessment time, and enhanced predictive capabilities. Conclusion: The integration of AI technologies in ASD diagnosis presents a promising frontier for enhancing diagnostic accuracy, efficiency, and early detection. While these tools can increase accessibility to ASD screening in underserved areas, challenges related to data quality, privacy, ethics, and clinical integration remain. Future research should focus on applying diverse AI techniques to large populations for comparative analysis to develop more robust diagnostic models.

Objective: Patient-reported quality of life (QoL) measurement is crucial in making clinical decisions in unison with the patients. The current gold standard for cystic fibrosis (CF) is the Cystic Fibrosis Questionnaire-Revised (CFQ-R), which has different applications for different age groups and requires a computer program to be evaluated. There is a need for a straightforward way to evaluate QoL in both pediatric and adult patients with CF. The study aims to establish the validity and reliability of the Turkish version of the Alfred Wellness Score (AWESCORE) test that has been developed to evaluate QoL in patients with CF. Materials and Methods: This study is a methodological study. The AWESCORE form was translated into Turkish and was applied to patients above 10 years of age. It includes 10 questions. Each question was scored using a numerical rating scale of 0-10. Total scores ranged from 0 to 100. Test-retest reliability was assessed over 24 hours. To determine validity, comparisons were sought between stable subjects and those in pulmonary exacerbation, and between AWESCORE and CFQ-R. Results: A total of 99 patients were included, 29 of whom were during their acute exacerbation period (29%). All questions showed intraclass correlation coefficient (ICC) values above 0.9, indicating excellent reliability. Scores were higher during clinical stability compared to pulmonary exacerbation (mean ± SD): 79.35 ± 6.51 versus 41.93 ± 8.58 (P < .001). All questions were significantly worse in the acute exacerbation period, showing excellent validity with P values below .001 for each question. Conclusion: The Turkish version of the AWESCORE is valid and reliable in its ability to evaluate QoL in patients with CF.

Objective: Obstetric brachial plexus paralysis (OBPP) is a pathology that affects the individual and caregivers in many ways from the first years of life. The caregiver must also be evaluated for the correct rehabilitation program. In our study, we aimed to evaluate the pain, quality of life and impact levels of caregivers of OBPP children. Materials and Methods: A total of 102 individuals, consisting of 51 individuals with an average age of 33.5 ± 4.6 who cared for children with OBPP and 51 individuals with an average age of 32.15 ± 4.67 who cared for typically developing children, participated in the study. Participants' physical and sociodemographic information was questioned, and the World Health Organization Quality of Life Scale-Brief Version Turkishwas used to assess their quality of life. The Cornell Musculoskeletal Disorder Questionnaire was used to assess musculoskeletal pain, and the Impact on Family Scale (IFS) was used to determine the impact on family. Results: Caregivers of children with OBPP had significantly higher lower back, right upper arm, and hip disorders (P = .019, P = .021, P = .033) and financial condition, personal stress, coping, and total impact score (P = .000, P = .002, P = .000, P = .009), which are among the IFS sub-parameters. No significant difference was found in the quality of life between the groups (P = .423, P = .298, P = .625, P = .167, P = .991). Conclusion: The present study revealed that caring for a child with OBPP affected the caregiver physically and mentally. Furthermore, we think that caregivers should also be considered and evaluated in detail in the strategies related to the rehabilitation process.

Objective: Primary immunodeficiencies (PID) and secondary immunodeficiencies (SID) increase the risk of severe and recurrent infections. Immunoglobulin replacement therapy (IGRT) is essential for these patients, administered as intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG). Subcutaneous immunoglobulin therapy, notably the high-concentration 20% immune globulin subcutaneous solution (Ig20Gly), provides significant advantages, including home administration, reduced systemic adverse reaction (SAR), and enhanced patient autonomy through less frequent dosing and lower infusion volumes. This study aims to evaluate the effectiveness, safety, and treatment satisfaction of Ig20Gly in patients with PID and SID, offering insights into optimizing IGRT and the impact of high-concentration SCIG on improving outcomes. Materials and Methods: The authors conducted a retrospective cohort study of 22 pediatric patients with PID or SID who transitioned from IVIG to SCIG. The authors gathered clinical and demographic data, including infection rates, immunoglobulin G (IgG) levels, school absenteeism, and parental workday loss. Treatment satisfaction was assessed using the treatment satisfaction questionnaire for medication-9, and statistical analyses were performed to compare outcomes before and after the transition. Results: Transitioning to SCIG raised median IgG levels from 690 mg/dL during IVIG to 850 mg/dL after 12 months of SCIG (P < .001). Severe bacterial and lower respiratory tract infections decreased significantly, along with parenteral antibiotic use (P = .003, P = .005, P = .009, respectively). School absenteeism and caregiver workday loss also declined (P < .001). While no SARs were observed with SCIG, mild local reactions were reported, which diminished over time. Treatment satisfaction improved significantly, with younger children under 9 reporting lower convenience scores. Patients on IVIG for over 24 months before SCIG had higher satisfaction scores. Conclusion: Twenty percent SCIG therapy has demonstrated a favorable safety and tolerability profile, providing substantial practical advantages for pediatric patients and their families. This therapy not only streamlines the management of pediatric immunodeficiencies but also effectively maintains optimal Ig levels, thereby decreasing infection rates and improving overall patient well-being. These results underscore the potential of SCIG therapy to enhance treatment satisfaction and quality of life. However, additional research is necessary to confirm these findings and evaluate long-term outcomes.

Background: Retinoblastoma (RB), the most common intraocular cancer worldwide, has been extensively investigated. To the best of our knowledge, however, no reports exist on RB in Albania. We aimed to present the first case series of RB in Albania, including presentation, treatment, and outcome of patients. Materials and Methods: This was a retrospective case series of patients diagnosed with RB from 1998 to 2023 at a single country Mother Teresa University Hospital Center in Albania. Epidemiologic and clinical data were extracted from follow-up clinical charts. Results: During the 25-year study period, 22 patients were diagnosed with RB, of whom 59% were females. The average age at diagnosis was 21.8 months (SD-18.8 months). In 13 (59%) cases, the disease was diagnosed within the first year of life, and less than 5% were diagnosed after the age of 5 years. Overall, 18% of patients had family history of RB, and 41% had bilateral RB. The time from the first symptom to diagnosis was less than a month in 32% of cases, while 77% of patients were diagnosed within 4 months. The main presenting symptom was leukocoria in 6 (27%) cases, strabismus in 3 (14%) cases, and combination of both in 3 (14%) cases. Treatment was mainly a combination of enucleation and systemic chemotherapy in 15 (71%) cases. Only 13 (59%) patients continued treatment within Albania, with the rest being treated abroad. Conclusion: We present the first cohort of children with RB from Albania, a country with limited diagnostic and treatment resources. The advanced disease states of these children underscore the importance of implementing national pediatric screening programs.

Objective: Type 1 diabetes mellitus (T1DM) is a prevalent chronic disease affecting children, necessitating ongoing care from multidisciplinary clinics. This study aimed to determine the prevalence of thyroid dysfunction in newly diagnosed T1DM patients, investigating long-term thyroid function through periodic monitoring. Materials and Methods: A retrospective cohort study utilized the medical records of pediatric patients with newly diagnosed T1DM. Extracted data included age at initial diagnosis, presenting clinical manifestations, standard laboratory findings, and thyroid function panel results. Results: The sample included 208 T1DM patients, with a higher proportion of males (54.8%) than females (45.2%). Initial assessment revealed that 69.2% of patients were euthyroid, 24.5% exhibited euthyroid sick syndrome (ESS), 5.8% compensated hypothyroidism, and 0.5% primary hypothyroidism. About 76.5% of patients initially diagnosed with ESS were euthyroid at the second visit. Analysis confirmed a significant difference in the distribution of euthyroid and ESS patients between the first and second visits (P < .001). Temporal analysis indicated that thyroid function tended to normalize within 1-2 weeks of the initial presentation. Conclusion: Tests should be performed within 1-2 weeks following clinical stabilization to evaluate thyroid function in newly diagnosed T1DM patients. However, patients with a history of thyroid disease, or those with clinical signs indicative of thyroid dysfunction, should undergo immediate testing at the time of diagnosis.

Objective: Surfactant therapy (ST) is commonly used in late preterm (LPT) infants with respiratory distress despite a lack of definitive recommendation for these infants. Our aim was to establish a national prospective database to evaluate the use of surfactants in LPT infants. Materials and Methods: A multicenter, prospective observational cohort study was conducted among LPT infants treated with surfactant between January 1, 2022, and December 31, 2022. Twenty neonatologists from 16 neonatal intensive care units (NICUs) participated in the study. Results: During the study period, a total of 3327 LPT infants were admitted to the participating NICUs. Among them, 1866 infants experienced respiratory distress, and 288 received surfactant treatment. In this study, respiratory distress syndrome (RDS) was the most common indication for surfactant administration, affecting 158 infants (54.8%), followed by congenital pneumonia in 79 infants (27.4%) and transient tachypnea of the newborn (TTN) in 32 infants (11.1%). Conclusion: We demonstrated that ST is administered with significant variability among LPT infants experiencing respiratory distress. Additionally, respiratory issues in LPT infants beyond RDS, such as congenital pneumonia and TTN, are also frequently treated with surfactant.

Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that primarily affects the respiratory and gastrointestinal systems. It results from variants in the CFTR gene, leading to dysfunctional chloride channels, thickened mucus secretion, and subsequent multisystem complications. Significant advances have been made in CF treatment, particularly with the development of CFTR modulators, which are unique to genotypes and have improved clinical outcomes in many people with CF. However, the benefits of these therapies are not universal, with a considerable portion of the CF population-especially those with rare mutations-still without access to effective treatment options. This review provides a comprehensive overview of the pathophysiology and genetic basis of CF, explores current and emerging treatments, and discusses the ongoing challenges in the field.