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Copyright of Firat Universitesi Sağlik Bilimleri Tip Dergisi is the property of Firat Universitesiu, Saglik Bilimleri Enstitusu and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

In this case report, we present a 29-year-old patient with Down syndrome (DS) who manifested both psoriasis and hidradenitis suppurativa (HS) concurrently. The utilization of guselkumab, an interleukin 23 p19 subunit inhibitor that is approved for moderate to severe psoriasis vulgaris, resulted in significant improvement in symptoms for both conditions following the initial administration. The patient achieved a psoriasis area and severity index 90 response with significant amelioration of psoriatic plaques. Simultaneously, more than 50% improvement in abscess and inflammatory nodules secondary to HS was observed 4 weeks after the start of guselkumab therapy, resulting in a HiSCR score achievement. Throughout the 52-week follow-up, there were no observed exacerbations of symptoms or adverse effects. This case highlights the potential benefit of guselkumab in the simultaneous treatment of HS and psoriasis, and suggests that guselkumab is an effective and safe biologic agent of choice in individuals with DS, where the prevalence of both these diseases is increased, and treatment adherence may pose additional challenges compared to the normal population. [ABSTRACT FROM AUTHOR]

With the advancements in educational technologies, the use of robots in education is becoming increasingly widespread. Around the world, robotic activities and educational programs are being organized to enhance students' cognitive and social skills. However, unfortunately, robot-assisted educational studies and applications for students requiring special education are limited. This research aims to present a humanoid robot-assisted learning environment for children with Down syndrome. In this study, an original dataset for children with Down syndrome has been generated using Turkish natural language processing techniques. This dataset includes special scenarios and a question-answer dataset to assist in improving the cognitive and social skills of the children. The NAO humanoid robot, part of the inventory of Iskenderun Technical University, is prepared to interact with children and use this special dataset. This unique method and dataset aim to create a reciprocal chat environment with children with Down syndrome and improve their focus, attention, concentration, and communication skills. This is an important step as an example of Turkish humanoid robot-assisted education applications in the literature. The next stages of our research will involve using this unique method and dataset with more children with Down syndrome and examining its impacts. This study, which is expected to be an important educational material in terms of improving the communication skills of children who need special education, carries national importance due to being in Turkish and will make significant contributions to special education in our country. [ABSTRACT FROM AUTHOR]

Copyright of Ümraniye Pediatri Dergisi is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Down syndrome (DS) patients have a higher risk of developing Celiac disease (CD) than the general population. This study aimed to estimate the prevalence of CD in DS patients and compare the diagnostic performance of the screening algorithms. Material and Method: A cohort of 1117 DS patients were included. Patients were grouped according to the initial screening method. Anti-gliadin antibody (AGA)-IgA/IgG were measured in the first, endomysial antibody-IgA (EMA) in the second, and tissue transglutaminase (tTG)-IgA/IgG in the third group. Additionally, EMA was also measured in patients with elevated tTGIgA or tTG-IgG levels. In the follow-up, 225 patients were rescreened. Intestinal biopsy was planned in patients with positive AGA-IgA/IgG, positive EMA, or more than threefold elevated tTG-IgA levels. Result: Based on the initial screening, 34.5% of the patients in the first group underwent a biopsy, and 2.3% were diagnosed with CD. In the second and third groups, 1.8% and 1.6% of patients underwent biopsy, and CD was diagnosed in 0.5% and 1.3%, respectively. Among all patients, 1.3% were diagnosed with CD at initial screening. Two hundred twenty-five patients with negative initial screening tests or intestinal biopsy were rescreened; 8% underwent biopsy and CD was confirmed in 4.9%. Overall, 2.3% of patients were diagnosed with CD. The positive predictive value of AGA-IgA and AGA-IgG was low (13.6% and 7.2%, respectively) compared to EMA (69.6%) and tTG-IgA (66.7%). Gastrointestinal or extraintestinal symptoms were present in 42.3% of CD patients, and none of them had short stature. Conclusion: Celiac disease was detected in 2.3% of DS patients. The CD detection rate was 1.3% at initial screening but increased to 4.9% at rescreening. Our results strongly suggest that CD screening should be performed regularly in all DS patients, whether they are symptomatic or not. [ABSTRACT FROM AUTHOR]

Differences in body shapes directly affect the functionality and aesthetic appearance of clothing. These differences can arise from an individual's body measurements, as well as from genetic diseases. Down syndrome, known as a chromosomal anomaly, is also a genetic disease that affects the different body shapes of individuals. The aim of this study is to determine the body measurements of individuals with Down syndrome due to their genetic characteristics, prepare size charts suitable for these individuals, and create basic body patterns. The study was conducted on 65 female individuals with Down syndrome aged 8-20 years who attend schools and private education centers affiliated with the Ministry of National Education in Gaziantep Province. Measurements were taken in accordance with anthropometric measurement rules, and the descriptive statistics of the measurements were calculated and evaluated. Based on the data analysis results, similarities were identified between the bodies, and two separate size charts were created. These size charts were transferred to the Clo 3d Fashion Design program, and body checks were performed to create basic patterns. Accordingly, basic size patterns for the age groups of 8-12 years and 12-20 years were prepared. [ABSTRACT FROM AUTHOR]

Objective: Dental treatment for Down's syndrome is often carried out under general anesthesia due to the difficulty of cooperation, excessive dental procedures, and accompanying systemic diseases. The risk of endocarditis can be avoided by maintaining good oral hygiene, preventing tooth decay and administering prophylactic antibiotics before some dental treatments. Material and Method: Down Syndrome patients underwent dental treatment under general anesthesia were evaluated retrospectively. General anesthesia method, demographic variables, ASA scores, Oral Hygiene Index, Frankl scale, Houpt Scale, systemic diseases of the patients, antibiotic prophylaxis and dental treatments were examined as data. Results: Female/male ratio was 62/51, mean age was 14.14±10.28. Most patients were ASA II with 67.3%. The oral hygiene index was poor (%38). While 84.81% of the patients were sedated, 15.2% were given general anesthesia. Tooth extraction with tooth filling was the most performed dental treatment. The most common systemic disease was of cardiac origin. Antibiotic prophylaxis was administered to 82 of the patients. Conclusion: To treat patients with Down Syndrome, frequent use of general anesthesia and sedation, as well as frequent antibiotic prophylaxis, is required. In terms of these applications, it is necessary to create a treatment plan with the least risk to the patient. [ABSTRACT FROM AUTHOR]

Background: It is known that children with neurodevelopmental diseases have frequent traumas like falling and apply to emergency department which significantly affects patient and family. Our aim is to examine the families' view and the problems encountered in emergency services by examining their answers to questionnaire. Methods: This study was designed retrospectively. Patients registered in Department of Autism, Mental Special Needs and Rare Diseases as families with children who have neurodevelopmental diseases included in the study. 324 families' survey with 12 open-ended questions evaluated in terms of distribution and frequencies with descriptive statistical methods. Results: By analyzing the data obtained the findings of the research were gathered under 12 main themes and 80 sub-themes. 313 (89.9%) were diagnosed with Down Syndrome, 9 (2.5%) with Angelman Syndrome, 7 (2.02%) with intellectual disability, and 5 (1.4%) with Autism. 34.2% of the children were 0-3 years old, 28.7% were 3-6 years old, 20.9% were 6-10 years old. Emergency services were used in "all cases where urgent intervention is required" (70%), and in cases where "an outpatient appointment couldn't made" (10.8%) Conclusion: It would be beneficial to examine children with neurodevelopmental diseases in an understanding and patient manner, using a plain and understandable language, in a quiet environment in emergency room. To solve these patient's problems, awareness training of healthcare professionals, having separate examination and observation room, ensuring accessibility and arranging the room with necessary medical supplies and equipment should be made [ABSTRACT FROM AUTHOR]

Objective: To investigate the effects of body mass index (BMI), quadriceps angle (Q0) and pes planus on walking age in children with Down syndrome (DS) and typically developing peers. Methods: Bodyweight, height and Q0 were measured and footprints were obtained in 50 children with DS and 50 typically developing children (control), ages between 2-6 years. BMI and Staheli index (SI) were calculated. Results: The mean walking age was 26±8 months in the DS group and 12±2 months in the control group (p

Objective: Congenital hematological disorders are frequently observed in Down syndrome (DS). In this study, we aimed to investigate peripheral blood-derived inflammation biomarkers such as neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, and eosinophil/monocyte ratio in patients with Down syndrome. Material and Methods: Ninety-eight patients with karyotypically ascertained DS and 103 healthy controls were included. All subjects were divided into three age groups: 0-2 years (34 patients, 34 controls), 2-6 years (32 patients, 33 controls), and >6 years (32 patients, 36 controls). Demographic, clinical, and laboratory data between June 2010 and December 2021 were written from the file records from the pediatric allergy and immunology department. Results: Lymphocyte, eosinophil, and EMR were found to be significantly lower in children with DS compared to controls in group 2 (2-6 years) and group 3 (>6 years). PLR was found to be higher in children with DS in group 2 and group 3. There was no statistically significant difference between DS and controls in group 1 (6 years), there was a statistically significant difference between DS and controls in terms of lymphocyte, eosinophil, PLR, and EMR variables (P>0.05). Conclusion: We found significant differences among lymphocyte, eosinophil, PLR, and EMR in patients with DS. As a result, these parameters should be evaluated carefully for clinical outcomes.

Background: Down Syndrome (DS) is one of the most common genetic anomalies observed in approximately one out of 700 live births, which occurs as a result of an excess of chromosome 21 (trisomy 21). Cognitive development in DS children is generally in the range of moderate to severe retardation, and mental age is rarely above eight years. The aim of this study is to investigate the neurodevelopmental characteristics of children with DS between the ages of 1-6 years and their relationship with comorbid medical pathologies. Materials and Methods: A total of 83 DS children who applied to the child and adolescent mental health outpatient unit, were included in the study, and the relationships between sociodemographic and medical histories and neurodevelopmental characteristics were analyzed. Denver II Developmental Screening Test was used to evaluate their development. Four areas were evaluated: gross motor development, fine motor development, language-cognitive development and personal-social development. Results: The rates of medical comorbidities in children with DS was 75.9% (38 had heart problems, 17 had thyroid dysfunction, and 8 had epilepsy). There was no statistically significant difference between genders in terms of Denver II Developmental Screening Test scores. Children with hypothyroidism have significantly lower Denver II Developmental Screening Test scores in all domains. Other medical comorbidities did not have a significant effect on Denver II Developmental Screening Test scores. Conclusions: Concomitant medical diseases in children with DS may affect the development of the child. Therefore, early diagnosis and treatment of these conditions is essential. Due to the negative effects of hypothyroidism on the development of children, care should be taken in the treatment and close follow-up of these children. [ABSTRACT FROM AUTHOR]

Objective: Down syndrome is the most common chromosomal anomaly. Thyroid dysfunction occurs frequently in individuals with Down syndrome. In this study, it was aimed to evaluate the thyroid function tests of patients diagnosed with Down syndrome, who presented to the pediatric endocrinology polyclinic of our hospital. Material and Method: The data of a total of 79 patients with Down syndrome who presented to the pediatric endocrinology outpatient department between December 2018 and February 2020 were evaluated retrospectively. From the medical records of the patients, it was recorded whether the levels of thyroid stimulating hormone (TSH), free thyroxine (fT4), anti-thyroid peroxidase (anti-TPO), and anti-thyroglobulin (anti-Tg) were previously measured. Patients with normal levels of TSH and fT4 were defined as euthyroid; patients with high levels of TSH and low levels of fT4 were diagnosed with overt hypothyroidism, and patients with high levels of TSH and normal levels of fT4 were diagnosed with subclinical hypothyroidism. The diagnosis of Hashimoto's thyroiditis (HT) was made by the presence of the positivity of thyroid autoantibodies (anti-TPO and/or anti-Tg). Results: A total of 79 patients, 42 (53.2%) male and 37 (46.8%) female, were included in the study. The median age of the patients was 5.16 (1.58-9.41) years. Overt hypothyroidism was found in 16 (20.2%) of the 79 cases included in the study, subclinical hypothyroidism was found in 28 (35.5%) and euthyroidism was found in 35 (44.3%). The presence of anti-TPO and/or anti-Tg was checked in 52 of the 79 patients. Thyroid autoantibodies were positive in 9 (17.3%) of these patients. Conclusion: Thyroid dysfunction, especially subclinical hypothyroidism, is common in children with Down syndrome. Therefore, it would be appropriate to perform thyroid function tests at regular intervals in these patients. [ABSTRACT FROM AUTHOR]

Objective: An aberrant right subclavian artery (ARSA) is an aortic arch anomaly isolated or associated with other ultrasound markers and/or congenital anomalies. This study aimed to evaluate the necessity of invasive prenatal tests (PIT) in cases with isolated ARSA (iARSA) in prenatal sonography. Materials and Methods: The presence of ARSA was evaluated retrospectively in 7690 fetuses who underwent a second-trimester ultrasonography evaluation between March 2015 and February 2021. PIT was recommended for patients with non-iARSA. cfDNA test (including 22q11.2 microdeletion/duplication syndrome (MMS) or PIT was suggested for patients with iARSA. Results: The mean week of gestation was 20.26±3.93 in 95 fetuses diagnosed with ARSA. Of the fetuses, fourty-two (44%) had iARSA, and 53 (56%) had additional findings. No chromosomal abnormality was found in any of the isolated cases. Trisomy 21 in 14, Trisomy 18 in one, 47,XX,+i(9)(p10) in one of 53 were found in non-isolated cases. Additional abnormalities and/or soft ultrasound markers were accompanied in all fetuses with chromosomal abnormalities. Conclusion: When iARSA is detected in prenatal ultrasonography, cfDNA testing may be sufficient, including 22q11.2 MMS. However, PIT should be recommended in the presence of structural abnormalities, soft ultrasound markers, or increased risk in the antenatal screening test. [ABSTRACT FROM AUTHOR]

Copyright of Istanbul Gelisim University Journal of Health Sciences / İstanbul Gelişim Üniversitesi Sağlık Bilimleri Dergisi is the property of Istanbul Gelisim Universitesi Saglik Bilimleri Yuksekokulu and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Turkiye Klinikleri Journal of Medical Ethics-Law & History / Türkiye klinikleri tıp Etiği, Hukuku ve Tarihi Dergisi is the property of Turkiye Klinikleri and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

In this study, it was aimed to determine the effectiveness of the verbal behavior approach in teaching children with Down Syndrome (DS), reverse intraverbal skills. This research was carried out using a multiple probe design across behaviors, which is one of the single-subject research designs. The participants of this study consisted of children between the ages of 12 and 15 who were diagnosed with DS. In this research; baseline, intervention sessions, full probe sessions, maintenance and generalization sessions were conducted. Findings of the research are summarized under three headings. These; (1) the verbal behavior approach is effective in teaching DS children the reverse intraverbal skills, (2) it was observed that the DS children continue to perform the reverse intraverbal skills they learned after the end of the instruction, and (3) It has been also revealed that DS children they learned the reverse intraverbal skills generalize (to different people). [ABSTRACT FROM AUTHOR]

Bu çalışmada, ¨Down Sendromlu (DS)¨ çocuklara tersine söz içi becerisinin kazandırılmasında sözel davranış yaklaşımının etkililiği belirlenmeye çalışılmıştır. Bu araştırma, tek-denekli araştırma desenlerinden yoklama evreli davranışlar arası çoklu yoklama modeli kullanılarak gerçekleştirilmiştir. Bu araştırmanın katılımcıları, 12-15 yaş arasındaki DS tanısı almış çocuklardan oluşmaktadır. Araştırmada; başlama düzeyi, öğretim oturumları, öğretim oturumları öncesi yoklama oturumları, toplu yoklama oturumları, kalıcılık ve genelleme oturumları düzenlenmiştir. Araştırma sonunda elde edilen bulgular; (1) DS’li çocuklara tersine söz içi becerilerin kazandırılmasında sözel davranış yaklaşımının etkili olduğunu, (2) sözel davranış yaklaşımıyla DS’li çocuklar kazandıkları söz içi becerilerini öğretim bittiğinde de öğrendiklerini korudukları ve (3) DS’li çocukların sözel davranış yaklaşımıyla edindikleri tersine söz içi becerilerini farklı kişilere genelledikleri ortaya koymuştur.

Objective: Congenital hematological disorders are frequently observed in patients with Down syndrome (DS). In this study, we aimed to investigate peripheral blood-derived inflammation biomarkers such as neutrophil-lymphocyte ratio, platelet-lymphocyte ratio, and eosinophilmonocyte ratio in patients with Down syndrome. Material and Methods: Ninety-eight patients with karyotypically ascertained DS and 103 healthy controls were included. All subjects were divided into three age groups: 0-2 years (34 patients, 34 controls), 2-6 years (32 patients, 33 controls), and >6 years (32 patients, 36 controls). Demographic, clinical, and laboratory data of patients with DS who were admitted between June 2010 and December 2021 were reviewed from the file records from the pediatric allergy and immunology department. Results: Lymphocyte, eosinophil, and eosinophil-monocyte ratio were found to be significantly lower in children with DS compared to controls in group 2 (2-6 years) and group 3 (>6 years). Platelet-lymphocyte ratio was found to be higher in children with DS in group 2 and group 3. There was no statistically significant difference between DS and controls in group 1 (<2 years) in terms of all parameters. In group 2 (2-6 years) and group 3 (>6 years), there was a statistically significant difference between DS and controls in terms of lymphocyte, eosinophil, platelet-lymphocyte ratio, and eosinophilmonocyte ratio variables (P>0.05). Conclusion: We found significant differences among lymphocyte, eosinophil, platelet-lymphocyte ratio, and eosinophil-monocyte ratio in patients with DS. As a result, these parameters should be evaluated carefully for clinical outcomes. [ABSTRACT FROM AUTHOR]

Objective: To investigate the effects of body mass index (BMI), quadriceps angle (Q0) and pes planus on walking age in children with Down syndrome (DS) and typically developing peers. Methods: Bodyweight, height and Q0 were measured and footprints were obtained in 50 children with DS and 50 typically developing children (control), ages between 2-6 years. BMI and Staheli index (SI) were calculated. Results: The mean walking age was 26±8 months in the DS group and 12±2 months in the control group (p<0.0001). While BMI was 85 percent in all age groups in girls in the DS group, it increased with age in boys this group. SI was 1.17±0.28 in the DS group and 0.93±0.04 in the control group (p<0.001). Although there was no significant relationship between walking age and BMI, Q0, pes planus, the difference in walking age between the two groups decreased statistically as Q0 increased (p<0.001). Conclusion: In the DS group, regular monitoring of BMI, keeping it within healthy limits, and adding exercises related to Q0 and pes planus to physical therapy programs will reduce the delay in walking age. [ABSTRACT FROM AUTHOR]

Copyright of MN Opthalmology / MN Oftalmoloji is the property of Medical Network and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Children with Down syndrome have a high incidence of major malformations and corrective surgery. Some patients do not need any surgery, while some cases are operated for several indications. There are few studies investigating the effect of maternal age on the phenotype of these children, despite the fact that increasing maternal age is a known risk factor for giving birth to Down syndrome. We aimed to investigate the incidence of surgery for major malformations and disorders in children with Down syndrome and its relationship with maternal age at birth. Methods: We revised the records of 218 children with Down syndrome for maternal age at birth and for surgical interventions. Results: There were 84 children who had at least one operation with 38.5% incidence. A total of 49 children had cardiac surgery, 16 had gastrointestinal, 17 had head and neck area, 12 had ophthalmological, 12 had genitourinary, 5 had hernia, and 2 had orthopedic surgeries. The mean maternal age was 32.7 (minimum: 15; maximum: 44), and there was no significant difference between operated and non-operated groups for mean maternal ages (32.41 and 32.93, respectively; p=0.89). For any type of surgery, there was no significant difference between the groups with maternal ages 35 and over and those under 35. Conclusions: Maternal age at birth has no effect on the incidence of malformations and the probability of operation in Down syndrome. [ABSTRACT FROM AUTHOR]

Copyright of MN Opthalmology / MN Oftalmoloji is the property of Medical Network and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Respiratory tract infections are common in Down syndrome. A 24-year-old male patient with Down syndrome with concurrent diabetes mellitus underwent antibiotic treatment with a diagnosis of lung abscess in an external center with complaints of fever and vomiting, but was referred to us after his symptoms did not regress. Despite the improvement in the lung abscess noted in a radiological examination, the patient was identified with a brain abscess upon an examination due to the continuation of fever, vomiting and the onset of headache. Particular attention should be paid to additional abscess foci such as brain abscess in cases with lung abscess with an underlying comorbidity. [ABSTRACT FROM AUTHOR]

Copyright of Bagcilar Medical Bulletin / Bağcılar Tıp Bülteni is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Turkiye Klinikleri Journal of Health Sciences / Türkiye Klinikleri Sağlık Bilimleri Dergisi is the property of Turkiye Klinikleri and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Balikesir Health Sciences Journal / Balıkesir Sağlık Bilimleri Dergisi is the property of Balikesir Health Sciences Journal (BAUN Health Sci J) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The aim of this study is to investigate the relationship between semantic knowledge and verbal working memory (VWM) in children with typical development (TD), Down syndrome (DS) and autism spectrum disorder (ASD). Descriptive research and relational research methods were used in the design of the research. Children in the study group were matched with the Raven Colored Progressive Matrices Test according to their non-verbal intelligence score. The study group of the study consisted of 17 TD children aged 4-5 years and 14 DS and 15 ASD children whose nonverbal intelligence ages are between 4-5 years. Semantic knowledge was evaluated in the dimensions of vocabulary breath and vocabulary depth. The language sample collected in narrative context was used to evaluate of vocabulary breath. Vocabulary Depth Test (VDT) was used to assess vocabulary depth.VWM was assessed with the Nonsense Word Repetition Test (NWR). The results of the research revealed that all groups showed significant differences in vocabulary breadth, vocabulary depth and VWM performances. It was found that there was a significant and positive relationship between vocabulary breadth, vocabulary depth and VWM in all groups.VMW predicted vocabulary breadth and vocabulary depth in children with TD and DS.Vocabulary breadth was found to predict vocabulary depth in children with TD and ASD.However, VMW did not predict vocabulary breadth and depth in ASD. The results obtained from the study show that the results differ in the two different diagnostic groups. While the results were discussed regarding the contribution of verbal working memory in the acquisition of semantic knowledge in DS, the importance of word width in the acquisition of word depth in ASD was discussed. In addition, it has been suggested to examine different variables that may be effective in the development of semantic knowledge in both diagnostic groups. [ABSTRACT FROM AUTHOR]

Background: Down Syndrome (DS) can be diagnosed with prenatal invasive diagnostic tests to the risky population. In this study, it was aimed to propound the status of the oxidant/antioxidant system and interleukin-6 (IL-6)/interleukin-10 (IL-10) levels in the amniotic fluids of pregnant women with DS diagnosed child by amniocentesis method. Methods: According to the results of the genetic examination of the amniotic fluid obtained from the pregnant women who have been admitted to Zekai Tahir Burak Women's Health Training and Research Hospital, Genetic Center, and have undergone amniocentesis, amniotic fluid of 18 pregnant women who are carrying babies with DS and amniotic fluid of 36 pregnant women with healthy babies were included in the study under two groups. Study group (Group 1) consists of the amniotic fluid of the pregnant women carrying babies with DS while control group (Group 2) consists of the amniotic fluid of the pregnant women carrying healthy babies. In the samples taken, malondialdehyde (MDA), superoxide dismutase (SOD), glutathione peroxidase (GSH-Px) and xanthine oxidase (XO), catalase (CAT), adenosine deaminase (ADA), nitric oxide (NO), nitric oxide synthase (NOS) have been determined by spectrophotometric methods, as the measurements of IL-6 and IL-10 tests were carried out by ELISA method. In statistical evaluation, Student's t test and spearman correlation analysis were used. Results for P <0.05 were considered statistically significant. Results: According to the findings of the study, SOD level in Group 1 increased statistically significantly when compared to Group 2 (p <0.05). However, CAT and IL-6 in Group 1 were found to be statistically significantly reduced compared to Group 2 (p <0.05). There was no significant difference between the two groups in terms of MDA, GSH-Px, XO, NO, NOS, ADA and IL-10 levels (p> 0.05). Conclusion: Consequently, SOD enzyme activity was found to be increased in the group with DS. We think that SOD gene localized on the 21st chromosome caused this result. In addition, compared to the control group, the absence of CAT and GSH-Px in the amniotic fluids of pregnant women carrying babies with DS, that can eliminate the excessive amount of H2O2 caused by the activity of the SOD enzyme causes a serious oxidative stress. In parallel with these data, using the SOD enzyme as a marker in prenatal diagnosis can be a useful approach. For this purpose, further studies should be carried out with higher numbers. [ABSTRACT FROM AUTHOR]

Amaç: Otizm Spektrum Bozukluğu (OSB) ve Down Sendromlu (DS) çocuklarda hafiften ağıra kadar değişebilen düzeylerde zihinsel yetersizlik görülmektedir. Zihinsel yetersizliği olan bu çocukların kişisel bakım, gelişim ve sosyal yaşantıları birtakım destekler gerektirmektedir. Gerekli bakım ve destekleri veren bu bireylere birtakım yükler binmektedir. Bu çalışmada OSB ve DS çocuklara bakım verenlerin bakım yüklerinin karşılaştırılması amaçlanmıştır.Gereç ve Yöntemler: Kesitsel ve prospektif olarak tasarlanan bu çalışmaya 01 Ocak 2018 ile 01 Ocak 2019 tarihleri arasında Çanakkale Onsekiz Mart Üniversitesi Hastanesi’nin Çocuk Sağlığı ve Hastalıkları Anabilim Dalına bağlı acil servis, poliklinikler ve servisinde ayaktan veya yatırılarak takip veya tedavi edilen OSB veya DS’li çocukların bakım verenleri dahil edildi. 18 yaşından büyük ve en az 1 yıldır bakım verenler gönüllülük esası ile çalışmaya alınmıştır. Bakım verenlerin yaş, cinsiyet, eğitim durumu, medeni hal, meslek, maddi gelir düzeyi gibi sosyodemografik özellikleri ve Zarit Bakım Verme Yükü Ölçeği (ZBYÖ) ile bakım verme yükleri belirlendi.Bulgular: Çalışmaya toplam 91 (46 OSB, 45 DS) bakım veren katıldı. Bakım verenlerin çoğunluğu (%91) kadındı. OSB grubunda bakım verenlerin yaş ortalaması 37,73 yıl±7,82 ve DS grubunda ortalama 43,24 yıl±10,71 idi (p:0,008). ZBYÖ toplam puan ortalaması OSB grubunda 51,81±15,84 iken DS grubunda 42,42±13,52 puan bulundu ve bu fark anlamlı idi (p:0,003).Sonuç: Çalışmamızda DS’ye bakım veren kişilere göre OSB tanılı çocuklara bakım verenlerin bakım yükünün daha yüksek olduğunu saptadık. Araştırmamızın OSB’li çocuklara bakım verenlerin yaşadıkları güçlükleri tanımada ileride yapılacak daha kapsamlı çalışmalara referans olacağını düşünmekteyiz.

Early Postoperative Outcomes After Surgical Repair of Complete Atrioventricular Septal Defects in Children with Down Syndrome Objective: The aim of this study is to evaluate the early postoperative outcomes of children with and without Down syndrome (DS) who underwent complete atrioventricular septal defect repair surgically. Material and Method: In this prospective study, a total of 30 children, 20 of whom had Down syndrome, were admitted to the pediatric intensive care unit following surgical repair of complete atrioventricular septal defect. Results: Children with DS were operated numerically earlier. Median ages were: 16.5 months (4-72) and 23 months (3-48) for DS and Non- Down syndrome (NDS), respectively (p =0.640). There was no early postoperative mortality. The most common arrhythmia was ectopic tachycardia, and the prevalence of ectopic tachycardia was similar between the two groups (p =1). The total rate of non-cardiac complications such as pneumothorax, pleural effusion and infection was significantly higher in children with DS than in children without DS (p =0.032). There was a significantly longer duration of mechanical ventilation of 6.8 hours ((2-37 hours) in children with DS and 1.9 hours (1-4 hours) in the NDS group, respectively, p =0.013). However, there was no statistical difference between the two groups in terms of ICU and hospital stay (9 days (1-37 days) and 4.9 days (0-13 days), respectively, ( p =0.166). Conclusion: The rate of non-cardiac complications in the early postoperative period was significantly higher in children with DS compared to children without DS. [ABSTRACT FROM AUTHOR]

Copyright of Izmir Katip Celebi University Faculty of Health Sciences Journal / İzmir Katip Çelebi Üniversitesi Sağlık Bilimleri Fakültesi Dergisi is the property of Izmir Katip Celebi University, Faculty of Health Sciene Journal and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Down Syndrome (DS) is the most common chromosomal abnormality in the general population. Hearing loss is common in children with DS. It has been denoted that the rate of autism spectrum disorder (ASD) finding is quite frequent in individuals with DS. Early detection of autism characteristics is important for appropriate intervention. The presented case is a child with DS who was diagnosed with mild/moderate SNHL at the age of 7 months and recommended a hearing aid, and despite receiving intensive special education and rehabilitation program and appropriate family support, his development was very limited. Since his development was very limited, he was diagnosed with ASD when he has been referred to child psychiatry again. This case report shows the importance of directing the child to other disciplines to elucidate the factor causing limitation in cases where speech and language development is limited despite early diagnosis and intervention. Besides, it reveals the importance of routinely screening these children in terms of ASD, due to the high rate of coexistence of ASD in children with DS. [ABSTRACT FROM AUTHOR]

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Copyright of Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Turkish Journal of Obstetrics & Gynecology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Amaç: Down Sendromu ( Trizomi 21), en yaygın görülen kalıtsal sendrom olup, yaklaşık her 800 ile 1000 canlı doğumda bir karşımıza çıkmaktadır. Ölümcül olmayan trizomi olduğu için, genetik tarama ve tanı test protokollerinin çoğunun odağındadır. Çalışmamızın amacı, hastanemizde yapılan prenatal tarama ve tanı testlerinin maliyet değerlendirmesini yapmak ve bu harcamalar karşılığında canlı doğan Down Sendromu olgularının sayısını belirlemektir. Materyal ve Metot: Çalışmada, SBÜ Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi’nde Mayıs-Temmuz 2017 tarihleri arasında antenatal tarama sonuçlarına göre tanı testleri uygulanmış ve gebeliği sonuçlanmış (doğum, abort, terminasyon) 2300 gebenin arşiv dosyaları taranmıştır. Her prosedürün maliyet değeri hesaplanarak prenatal Down Sendromu tarama ve tanısı için toplam maliyet değeri elde edilmiştir. Bulgular: Hastanemiz antenatal polikliniklerinde takip olmuş ve gebeliği sonuçlanmış 2300 gebeden prenatal Down Sendromu taraması olan 1096 gebenin sonuçları değerlendirilmiştir. Prenatal tanı için invaziv prosedür uygulama endikasyonu olanların genetik tanı için 19’una (% 1,73) CVS ve 50’sine (% 4,56) amniyosentez yapılmıştır. Test sonuçlarına göre 8 (% 0,72) gebeye Trisomi 21 tanısı konulmuştur. Bunlardan dört gebeye (1 CVS ve 3 amniyosentez sonrası) gebelik terminasyonu yapılmış, iki gebelik (CVS sonrası) spontan düşük ile, bir gebelik preterm ölü doğum ile sonuçlanmış, bir gebe ise canlı doğum yapmıştır. Aynı dönem içinde tarama testi yüksek riskli çıkmış, amniosentez yaptırmayı kabul etmemiş bir gebe de Down Sendromlu canlı bebek dünyaya getirmiştir. Sonuç olarak tarama yapılan sadece iki bebek (% 0,18) miadında canlı doğmuştur. Maliyet değerlendirmesinde bu gebelerin sadece ikili tarama testi yaptıranlara toplamda 11.856,00 TL, sadece üçlü tarama testi yaptıranlara 14.169,30 TL, hem ikili hem üçlü tarama testi yaptıranlara 75.738,30 TL para harcanmıştır. Amniyosentez yöntemi ile genetik tanı koyulan gebelere 16.810,00 TL, CVS yöntemi ile genetik tanı koyulan hastalara 7.653,20 TL para harcanmıştır. Toplamda 126.226,80 TL harcayarak, 8 gebeye Down Sendromu tanısı koyulmuştur. Sonuç: Down Sendromu konusunda aileleri detaylı bilgilendirerek prenatal tarama testleri daha efektif kullanılabilir. Böylece tahliye istemi olmayan bireylere yapılan harcamalar canlı doğan Down Sendromlu olguların sağlık sorunlarının çözülmesi ve onların hayat kalitesini arttırarak topluma kazandırılması yönünde kullanılabilir. Optimal tıbbi ve sosyal destek sağlanırsa, özel değerlendirmeler ve incelemeler yaparak Down Sendromlu bireylerin yaşam kaliteleri önemli ölçüde arttırılabilir ve topluma önemli katkılar sağlanabilir.

Konjential diyafram hernisi nadir görülmekle birlikte morbiditesi ve mortalitesi yüksektir. Downsendromu ile birlikteliği saptanmış olup literatürde sınırlı sayıda olgu bildirilmiştir. Konjenital diyaframhernisinde semptomlar gastrointestinal ve solunum sistemi hastalıklarını taklit edebileceği için tanıdagecikme olmaktadır. Olgumuzda, doğumdan beri sık gastrointestinal şikayetleri olan ve sık alt solunumyolu enfeksiyonu geçiren Down sendromu olan bir hastaya 11 aylık iken Morgagni hernisi tanısıkonulmuştur. Bu olgu vasıtasıyla sık solunum sistemi enfeksiyonu geçiren ve özellikle eşlik edenkromozom anomalisi olan hastalarda konjenital diyafram hernisinin klinik bulgularını vurgulamayıamaçladık.

Objective: Down syndrome is the most common chromosomal disorder and characterized by dysmorphic features, intellectual disability and frequent developmental abnormalities. Though the syndrome is a lifetime health issue for society, the awareness of our community on the syndrome is not sufficient. Methods: This study is planned to define the level of awareness of our population on simple Down syndrome facts. A questionnaire consisting sociodemographic characteristics of the participants and Down syndrome facts was applied to 283 randomly selected participants. Results: The majority of the participants (89.8%) have heard of Down syndrome and 70% of the participants were aware that Down syndrome can be diagnosed during pregnancy. Even though less than half of them (42.4%) was clued in frequent association of congenital malformations with the syndrome, more participants (55.1%) knew that the advanced maternal age was a risk factor. There were statisticially significant differences between different sociodemographic groups on awareness of particular subjects. Conclusion: Even though the certain demographics were well informed about the syndrome, there are still excessive amount of prejudice against Trisomy 21 patients; and therefore, more social projects are needed to raise the awareness. [ABSTRACT FROM AUTHOR]

Copyright of Medical Journal of Ankara Training & Research Hospital is the property of Medical Journal of Ankara Training & Research Hospital and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Turkiye Klinikleri Journal of Health Sciences / Türkiye Klinikleri Sağlık Bilimleri Dergisi is the property of Turkiye Klinikleri and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Turkish Journal of Obstetrics & Gynecology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Down syndrome (DS) which is defined astrisomy 21 is the most common chromosomal defect characterized by mentalretardation, hypotonia, dysmorphic facial features, and other distinctivephenotypic characteristics. The prevalence of thyroid disorders in DS is 3% andis significantly higher than in the normal population. In this study we aimed to investigate hematologic parametersof children with DS who had and hadn’t subclinical hypothyroidism and comparethem with healthy controls. Methods:This study included 184 patients who were followed upwith genetically diagnosed DS. Completeblood count, levels of serum electrolytes, glucose, urea, liver function tests,thyroid function tests were reviewed. Results: 102 (55.4%)of the patients with DS were male and 82 (44.6%) were female. Mean age was 6.2± 4.0 years. Control group was constituted of outpatienthealthy children. White blood cell count, hemoglobin, hematocrit, andneutrophil counts were found to be significantly lower in patients with DS. Platelet count and plateletcrit levels werefound to be higher and platelet distribution width was lower in patients withDS than in the control group.Conclusion: We found significant differences amonghematological parameters in patients with DS. Subclinicalhypothyroidisminfluences red blood cell distribution width, platelet count and MPV. Knowingthe incidence and severity of hematologic abnormalities in patients with DS willbe beneficial during follow-up in clinical practice.

maç: Bu çalışmada Down sendromlu çocuk sahibi olan hastalarda MTHFR (Metilentetrahidrofolat redüktaz) geni C677T ve A1298C polimorfizmleri allel frekansları ve genotip dağılımlarını belirlemek ve bu genotipler ile folat ve homosistein düzeyleri arasındaki ilişkiyi araştırmak amaçlanmıştır.Gereç ve Yöntem: MTHFR geninin iki yaygın varyantı C677T ve A1298C, Türkiye Çukurova Bölgesi’ nde Down Sendromu tanısı almış çocukların annelerinde (hasta grubu, n=67) ve sağlıklı çocuk sahibi annelerde (kontrol grubu, n=66) araştırılmıştır. MTHFR genotipleri PZR amplifiye ürünlerinin RFLP analizi ile belirlenmiştir. Bulgular: C677T polimorfizmi için genotip ve allel frekansları bakımından hasta ve kontrol grupları arasındaki fark istatistiksel olarak anlamlı bulunmuştur. Hasta grubunda T alleli frekansına ait oran (%53.7) yüksek iken kontrol grubunda C alleli frekansına ait oran (%62.9) yüksektir. Ayrıca A1298C polimorfizmi için genotip ve allel frekansları bakımından hasta ve kontrol grupları arasındaki fark istatistiksel olarak anlamlı değildir. Hasta grubunda C alleli frekansına ait oran (%40.8) yüksek iken kontrol grubunda A alleli frekansına ait oran (%70.3) yüksektir. Sonuç: C677T polimorfizmi Down sendromlu çocuk sahibi olma durumu ile ilişkili iken A1298C polimorfizmi ilişkili değildir. 1298C alleli ile 677T alleli Down sendromu riski ile yakın ilişkili olabilir.

INTRODUCTION: This study was investigate the impact of level of functional independence and ages on the quality of life of the mothers in children with Down Syndrome. MATERIALS and METHODS: Thirtyseven Down syndrome children (7.9±3.5 years) were included in this study. Functional independent level of children were evaluated by using Functional Independence Measure, mothers quality of life were evaluated by using Sort Form-36. Down syndrome children were classified according their Functional Independence Measure total score into two groups; need observation (36-90 scores) (n=19), and independent (91-126 scores) (n=18) groups. RESULTS: Functional Independence Measure total scores of children in need obsevation group and children in independent group were 73.7±15.4, 106.7±11.6, respectively. Sort Form -36 Physical, Sort Form -36 Mental and Sort Form -36 Total scores of children in need obsevation group were 53.1±25.1, 49.6 ± 14.9 and 102.7±37.4 and children in independent group scores were 68.3±21.6, 62.1±13,9 and 130.5±33.7, respectively. When we compared Sort Form -36 Mental and Sort Form -36 Total scores of the groups were significant in favor of independent group (p<0,05), but the difference of Sort Form-36 Physical score was insignificant (p>0,05). In addition, it was found no relationships between the quality of life of mothers and children age in the all groups (p>0,05). CONCLUSIONS: The results of our study suggested that functional dependence level of Down syndrome children effects on mothers' quality of life and affected domain of quality of life was mental health. It was seen that the age of Down syndrome children did'nt has effect on quality of life of mothers. [ABSTRACT FROM AUTHOR]

Copyright of Online Turkish Journal of Health Sciences (OTJHS) / Online Türk Sağlık Bilimleri Dergisi is the property of Oguz KARABAY and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: The aim of this study was to analyze the ocular and clinical findings of patients with Down syndrome. Methods: A total of 72 patients, aged between 4 months and 22 years (mean: 5.5±5.1 years), were included in the study. All of the patients had been genetically analyzed and diagnosed with Down syndrome. The results of eye examinations and the accompanying systemic findings of the patients were obtained from computer records and the families. A visual acuity assessment, biomicroscopy, fundus examination, cycloplegic refraction, and in required cases, a fluorescein dye disappearance test, were performed. Results: Of the 72 patients, 48 (67%) were male and 24 (33%) were female. Chromosome analysis revealed regular trisomy in 69 patients (96%), a genetic mosaic in 2 patients (3%), and a translocation pattern in 1 patient (1.4%). The results of the eye examination of patients revealed refractive errors (85%), upward slanting of the palpebral fissures (68%), epicanthus (63%), strabismus (33%), blepharitis (22%), retinal pathologies (19%), cataract (19%), nasolacrimal duct obstruction (17%), Brushfield spots (17%), eyelid laxity (11%), nystagmus (4%), and keratoconus (3%). The systemic findings identified were congenital heart disease (36%), hypothyroidism (31%), growth retardation (7%), hearing loss (6%), undescended testis (4%), asthma (4%), Hirschsprung's disease (1.4%), and autism (1.4%). No refractive error was observed in 11 patients (15%), and no systemic disease was seen in 13 patients (19%). Astigmatism was the most frequent finding (68%), followed by hyperopia (47%) and myopia (19%). The most common congenital heart disease was a septum defect (33%). Conclusion: Ocular problems and systemic diseases are more common in patients with Down syndrome. Early diagnosis and treatment will make it easier for patients to adapt to all aspects of life. [ABSTRACT FROM AUTHOR]

Aim: Pulmonary hypertension is a major cause of morbidity and mortality among Down syndrome patients with congenital heart disease. Asymmethric dimethyl arginine (ADMA) is an endogenous inhibitor of nitric oxide synthesis. Increased plasma levels of ADMA may be related with pulmonary hypertension. The aim of this study was to evaluate the relationship between ADMA and pulmonary hypertension in Down syndrome patients with congenital heart disease. Material and Method: The study group consisted of 21 children with Down syndrome with congenital heart disease. Plasma ADMA concentrations were analyzed according to the presence or absence of pulmonary hypertension. Results: The mean age of the 21 patients was 29.7±23.5 months (range: 3-88 months). Six patients with congenital heart disease had accompanied with pulmonary hypertension. Fifteen patients had no pulmonary hypertension. The levels of ADMA showed no statistically significant difference between the groups (p >0.05). Conclusion: No correlation was shown between ADMA levels and pulmonary hypertension in children with Down syndrome with congenital heart disease. However, multicenter prospective studies with enlarged sample sized are needed to provide more realistic results about the connection between ADMA and pulmonary hypertension in Down syndrome children. [ABSTRACT FROM AUTHOR]

Ürel Demir G, Ertuğrul İ, Şimşek Kiper PÖ, Utine GE, Alehan D, Alikaşifoğlu M, Boduroğlu K. (Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey). The mean maternal age and the prevalence of congenital heart diseases in Down syndrome. Çocuk Sağlığı ve Hastalıkları Dergisi 2019; 62: 51-55. Down syndrome is the most common chromosomal disorder which causes physical and intellectual impairment. The most common type is regular type trisomy 21 that is associated with advanced maternal age. Various congenital malformations are frequently seen in individuals with Down syndrome, also congenital heart diseases affect approximately 50% of the patients. In this study, we evaluated the patients diagnosed with Down syndrome (n=439) in our hospital within 15 years to determine the relationship between Down syndrome and advanced maternal age and the frequency of congenital heart diseases. The mean maternal age at birth of the patients included in our study was 32.1 ± 7.0. The incidence of congenital heart diseases was found to be 69.5%, whilst the most common cardiac disease was atrial septal defect. In conclusion, we found that congenital heart disease may be seen in babies with Down syndrome in higher rates than that reported in the literature, additionally Down syndrome may affect babies of mothers much younger than 35 years of age. [ABSTRACT FROM AUTHOR]