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Item Assessment of dental pain in children with intellectual disability using the dental discomfort questionnaire(2021) Senirkentli, Guler Burcu; Tirali, Resmiye Ebru; Bani, Mehmet; 33499707Objective: This study aimed to compare the Dental Discomfort Questionnaire (DDQ) scores in children with and without intellectual disability (ID) and to measure correlation between the total DDQ and the Decayed, Missing, and Filled Teeth (DMFT/dmft) scores, as well as the condition of the tooth causing pain. Method: This cross-sectional study included 81 children with normal intellectual development who attended the Departments of Pediatric Dentistry at two Turkish Universities and 80 children with different levels of intellectual disability who reported dental pain in special education centers. The 12-question DDQ (Turkish version) was applied to the parents of the patients with their consent. The relationship of the DDQ scores with tha of the DMFT/dmft, dental status, and demographic data was evaluated. Results: When the DDQ scores of children with intellectual disabilities were evaluated, it was found that the majority of the answers given to the questions were statistically similar (p < 0.05) to those of children with normal cognitive level. In the questions in which "pain when eating and brushing teeth" was evaluated, a higher score was obtained, which led to an increase in the total DDQ score (p < 0.001). There was a statistically significant difference between the groups in terms of the distribution of dental conditions (p < 0.001). When compared to the normal cognitive group, patients with mild and severe intellectual disabilities had more deep dentin caries, thoughy, frequent periapical abscess was less common in those groups (p < 0.001 and p = 0.022). There was no statistically significant relationship between DMFTscores. Conclusion: The DDQ was found to be a descriptive, functional, and easy-to-use questionnaire for children with intellectual disabilitiesin terms of detecting the presence of dental pain. No correlation was found between DMFT/dmft, dental status and DDQ scores.Item Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect(2019) Yalnizoglu, Dilek; Ozgul, R. Koksal; Oguz, Kader K.; Ozer, Bugra; Yucel-Yilmaz, Didem; Gurbuz, Berrak; Serdaroglu, Esra; Erol, Ilknur; Topcu, Meral; Dursun, Ali; 30701556MBOAT7 gene codes O-acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in LANDs cycle. We present clinical, neuroimaging, and genetic findings of 12 patients from 7 families with MBOAT7 gene defect, a recently defined novel phospholipid remodelling disease. To the best of our knowledge, our case series is the second report on patients with MBOAT7 gene defect. The patients present with global developmental delay particularly in speech and language skills, intellectual disability, stereotypical behavior, ataxic gait, early onset epilepsy with well response to medical treatment, strabismus and similar facial features. Common neuroimaging findings of the patients were folium dysgenesis of the cerebellum with a particular appearance, mild-to-moderate cerebellar atrophy, T2 hyperintensity of bilateral globus pallidius and dentate nuclei, enlarged perivascular areas, and mild thinning of the corpus callosum. Genome-wide genotyping and exome sequencing identified five different types of homozygous mutations in the MBOAT7 gene in all seven families which are p.Arg87*, p.Leu227ProfsX65, p.Gln376Lys, p.Trp426*, and chr19:54.666.173-54.677.766/11594bp del. We conclude that clinical and neuroimaging findings of MBOAT7 gene defect may suggest the diagnosis and guide genetic tests.