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    Is Serum Progranulin Level a Biomarker in Autism and Cognitive Development Disorders?
    (Aves, 2022) Ozgeris, Fatma Betul; Kurt, Nezahat; Ucuz, Ilknur Ibili; Yilmaz, Kubra Kocak; Keles, Mevlut Sait; Cayir, Atilla; Dursun, Onur Burak
    Objective: Cognitive developmental delay is a picture of the group of early-onset chronic diseases that affect 1.5-10% of children. Autism spectrum disorders are neurodevelopmental diseases with a genetic basis and abnormal brain development, characterized by disorders in areas that make up interpersonal relationships, such as communication, social cognition, and processing of emotional signals. Immune system dysfunction is thought to play a role in the pathogenesis of some neurological disorders, including autism. Progranulin is thought to be a regulator of the innate immune response. The purpose of this study was to look at plasma levels of progranulin, an anti-inflammatory neurotrophic factor, in children with autism spectrum disorder and cognitive developmental delay. Materials and Methods: The study was conducted on 52 children who were patients and 35 healthy children. Of the 52 children of the patient group. 32 were diagnosed with CDD and 20 were diagnosed with cognitive developmental delay-autism spectrum disorder. Serum progranulin concentrations were measured using a human-specific sandwich enzyme-linked immunosorbent assay. Results: Serum progranulin concentration was statistically lower in the patient group (110.746 +/- 26.04) than in the healthy control group (137.346 +/- 30.02). There was a statistically significant difference between the groups in levels of serum progranulin (p= .000). Receiver operating characteristic analysis was performed to evaluate the potential of progranulin as a biomarker to distinguish patients with cognitive developmental delay-autism spectrum disorder from healthy children. It detected a moderate area under the curve (0.743 +/- 0.06) value and a more significant P value for progranulin (P=.000). Conclusion: Progranulin deficiency in patients with autism spectrum disorder-cognitive developmental delay may result in decreased neurotrophic support for many years, with cumulative damage associated with unregulated inflammation that may play a role in autism spectrum disorder-cognitive developmental delay. We believe that low progranulin levels could be a biomarker for autism spectrum disorder-cognitive developmental delay.
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    Long-Term Outcomes of Early Autism Spectrum Disorder Screening: Prevalence and Diagnostic Stability in a Decade-Long Cohort from Türkiye
    (Mdpi, 2025) Esin, Ibrahim Selcuk; Demirdogen, Esen Yildirim; Akinci, Mehmet Akif; Turan, Bahadir; Uruk, Gulsum Tugba Korkmaz; Ucuz, Ilknur Ibili; Dursun, Onur Burak
    Objective: This study aimed to provide a reliable estimate of early childhood autism spectrum disorder (ASD) prevalence in T & uuml;rkiye and to examine diagnostic stability and developmental trajectories through a ten-year longitudinal follow-up incorporating systematic early screening, structured parent-child observations, and repeated diagnostic assessments. Methods: A total of 1981 children aged 18-48 months were screened using the M-CHAT-R/F. Children who screened positive underwent an initial clinical assessment, including a family interview and structured parent-child observation. Those identified as at risk were referred for DSM-5-TR-based diagnostic evaluation by expert clinicians. Children diagnosed with ASD or classified as at risk were enrolled in a structured ten-year follow-up program. Results: Of the 1981 screened children, 27 (1.4%) were identified as at risk. Nine children (33.3% of at-risk; 0.45% of the total sample) received an ASD diagnosis following comprehensive evaluation. All retained their diagnosis during the 18-month follow-up. By the tenth year, two additional children from the at-risk group were diagnosed, bringing the total number of ASD cases to 11. Conclusions: These findings demonstrate that structured, multi-stage screening and diagnostic procedures are feasible and effective for early ASD identification in T & uuml;rkiye. High diagnostic stability supports the reliability of early clinician-led assessments, while later-emerging cases highlight the importance of long-term monitoring of at-risk children.