Wos Açık Erişimli Yayınlar
Permanent URI for this collectionhttps://hdl.handle.net/11727/10754
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Item 3q29 Microdeletion Syndrome Associated with Developmental Delay and Pulmonary Stenosis: A Case Report(2022) Kaba, Duygu; celik, Zerrin Yilmaz; 36305444Background. 3q29 microdeletion syndrome (OMIM 609425), first described in 2005, is a rare copy number variation (CNV), accompanied by various neurodevelopmental and psychiatric problems. Phenotypic features of the syndrome have not been fully characterized due to the new definition and rarity. Facial dysmorphology, musculoskeletal anomalies, cardiovascular abnormalities, gastrointestinal abnormalities, and dental abnormalities can be seen.Case. A 28-month-old male patient was brought to the child and adolescent psychiatry clinic with a complaint of speech delay. He had mild dysmorphic symptoms. He was also sensitive to voice and often covered his ears. Balloon valvuloplasty was performed on the postnatal 28th day due to severe pulmonary stenosis. While karyotype was found to be normal, in array-Comparative genomic hybridization (aCGH), copy loss was detected in the long arm of chromosome 3 (arr[hg19] 3q29[196,209,689-197,601,344]x1), which contains approximately 1.4 Mb harboring 30 genes. Genetic counseling was given to the family of the patient who was diagnosed with 3q29 microdeletion syndrome.Conclusions. In conclusion, we present 3q29 microdeletion syndrome with global developmental delay (GDD), dysmorphic face, hyperacusis, scoliosis, and severe pulmonary stenosis. Performing genetic analysis in patients with developmental delay and congenital heart disease (CHD) for which the cause cannot be explained will prevent these rare diseases from being missed, and the characteristics of the diseases will be better characterized with the reported cases.Item How did the COVID-19 pandemic affect child and adolescent psychiatry outpatient clinic admissions? A single-center, retrospective study(2022) Ayraler Taner, Hande; Akin Sari, Burcu; Kaba, Duygu; https://orcid.org/0000-0002-4261-8509; 35465735; AAJ-8600-2021Background: The COVID-19 pandemic and the measures for controlling the pandemic adversely affected child and adolescent mental health; however, studies that examined the effects of the pandemic on child and adolescent mental health services are limited. This study aimed to determine the changes in admission to a child and adolescent psychiatry outpatient clinic (CAPOC) in the first year of the COVID-19 pandemic compared with the previous year. Methods: In this study, the information regarding admissions to Baskent University Faculty of Medicine's CAPOC between March 2019 and March 2021 was examined. Information including age, sex, admission date, the form of admission (first admission/follow-up), and the diagnosis was obtained from the electronic medical record system and the differences between the pre-pandemic period and the pandemic period were assessed. Results: It was found that during the pandemic, there was a decrease in CAPOC admissions; however, both female admissions and median age increased compared with the previous year. Also, admissions due to obsessive-compulsive disorder and somatic symptom-related disorders increased. Conclusions: Although there were fewer CAPOC admissions during the pandemic period compared with the pre-pandemic period, there were differences between the age, sex, and diagnosis distributions of the patients between the pandemic and the pre-pandemic period. Understanding the impact of the COVID-19 pandemic on CAPOC admissions will help plan child and adolescent mental health protective measures.Item Acute stress disorder with panic episodes induced by exposure to COVID-19 outbreak news in a child(2020) Kaba, Duygu; Sari, Burcu Akin; 0000-0002-4261-8509; AAJ-8600-2021