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    Could Fetuin-A Be a Biomarker for Autism Spectrum Disorder and Cognitive Developmental Delay?
    (Maik Nauka/Interperiodica/Springer, 2022) Kurt, Nezahat; Ozgeris, Fatma B.; Ucuz, Ilknur; Bayraktutan, Zafer; Kocak Yilmaz, Kubra; Demirdogen, Esen Yildirim; Cayir, Atilla
    Early detection of cognitive developmental delay (CDD) and autism spectrum disorder (ASD) is challenging, despite the numerous scientific studies conducted and different therapeutic strategies. Lack of a biomarker for autism is a limiting factor for early diagnosis, which could provide better outcome with early start of therapy. Because of the high serum fetuin-A concentration during intrauterine life, it has been suggested that fetuin-A may have a role in brain development. The current study sought to determine if fetuin-A, a multifunctional glycoprotein thought to have a role in brain development, may be used as a biomarker for the diagnosis of ASD and developmental delay. The study involved 55 children with cognitive developmental delays and 40 healthy children. Two categories of children with cognitive developmental delays were identified. The participants were subjected to a psychiatric assessment as well as developmental testing. Only 54.5% of the 55 individuals had CDD, whereas 45.5% had ASD. Using an ELISA kit, the levels of serum fetuin-A were determined spectrophotometrically. The serum fetuin-A levels in the patients from the test group were found to be significantly lower than in the healthy individuals (p < 0.001). The cutoff value for the serum fetuin-A levels for cognitive developmental delay and autism spectrum disorder was 518 mu g/liter, according to the results of ROC analysis (84.6% sensitivity and 91.4% specificity, AUC: 0.95, p < 0.001). The findings suggest that the serum fetuin-A level may be used to diagnose autism spectrum disorder and cognitive developmental delays.
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    Could Fetuin-A Be a Biomarker for Autism Spectrum Disorder and Cognitive Developmental Delay? (vol 87, pg 559, 2022)
    (Maik Nauka/Interperiodica/Springer, 2022) Kurt, Nezahat; Ozgeris, Fatma B.; Ucuz, Ilknur; Bayraktutan, Zafer; Kocak Yilmaz, Kubra; Demirdogen, Esen Yildirim; Cayir, Atilla
    There is an incorrect Ethics committee decision number on pages 560 and 564; the correct number is B.30.2.ATA.0.01.00/69.
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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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    Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2
    (Wiley, 2024) Dursun, Fatma; Turan, Ihsan; Bitkin, Eda celebi; Bayramoglu, Elvan; Cayir, Atilla; Erdeve, Senay Savas; Cakir, Esra Deniz Papatya
    ObjectiveAutosomal-recessive hypophosphataemic rickets type 2 (ARHR2) is a rare disease that is reported in survivors of generalized arterial calcification of infancy (GACI).Design, Patients and MeasurementThe objective of this study was to characterize a multicenter paediatric cohort with ARHR2 due to ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) deficiency and with a diagnosis of GACI or GACI-related findings. The clinical, biochemical and genetic characteristics of the patients were retrospectively retrieved.ResultsWe identified 18 patients from 13 families diagnosed with ARHR2. Fifteen of the patients had an ENPP1 variation confirmed with genetic analyses, and three were siblings of one of these patients, who had clinically diagnosed hypophosphataemic rickets (HRs) with the same presentation. From nine centres, 18 patients, of whom 12 (66.7%) were females, were included in the study. The mean age at diagnosis was 4.2 +/- 2.2 (1.6-9) years. The most frequently reported clinical findings on admission were limb deformities (66.6%) and short stature (44.4%). At diagnosis, the mean height SD was -2.2 +/- 1.3. Five of the patients were diagnosed with GACI in the neonatal period and treated with bisphosphonates. Other patients were initially diagnosed with ARHR2, but after the detection of a biallelic variant in the ENPP1 gene, it was understood that they previously had clinical findings associated with GACI. Three patients had hearing loss, and two had cervical fusion. After the treatment of HRs, one patient developed calcification, and one developed intimal proliferation.ConclusionARHR2 represents one manifestation of ENPP1 deficiency that usually manifests later in life than GACI. The history of calcifications or comorbidities that might be associated with GACI will facilitate the diagnosis in patients with ARHR2, and patients receiving calcitriol and phosphate medication should be carefully monitored for signs of calcification or intimal proliferation.