Pediatric Outpatient Clinic Research Articles

Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia

BackgroundAmong sex chromosome aneuploidies, 48, XXYY syndrome is a rare variant. This condition is marked by the existence of an additional X and Y chromosome in males, leading to a diverse range of physical, neurocognitive, behavioral, and psychological manifestations. Typical characteristics include a tall stature and infertility. Other phenotypes include congenital heart defects, skeletal anomalies, tremors, obesity, as well as the potential for type 2 diabetes and/or peripheral vascular disease.Case presentationA 6-year-old boy, who had been experiencing progressive vision deterioration in both eyes for the past two years, presented with a history of poor vision, delayed motor skills. The patient was diagnosed with micropenis in the pediatric outpatient clinic. Sparse hair, an unusually tall stature and craniofacial dysmorphology characterized by ocular hypertelorism, depressed nasal bridge, and epicanthic folds were observed. Comprehensive ophthalmic examination revealed high myopia and grade 3 macular hypoplasia. Diagnostic investigations including karyotype analysis and whole-exome sequencing identified an anomalous male karyotype comprising two X and two Y chromosomes, confirming a diagnosis of 48, XXYY syndrome.ConclusionsThis study underscores the rare association of high myopia and grade 3 macular dysplasia with 48, XXYY syndrome. To our knowledge, this case marks the first recorded instance of macular dysplasia in a patient with 48, XXYY syndrome. This novel finding enhances our understanding of this syndrome’s phenotypic variability.

Multifactorial analysis of willingness to undergo subcutaneous allergen immunotherapy in pediatric patients.

To explore factors influencing the acceptance of allergen immunotherapy (AIT) for the treatment of allergic respiratory diseases by pediatric patients and their families. A total of 406 children (210 males and 196 females) attending the pediatric outpatient clinics and wards of the Renji Hospital, Shanghai Jiao Tong University School of Medicine from June 2020 to April 2022. Those who met the criteria for the AIT treatment, were included in the survey. An online 20-item questionnaire was developed. Data on patient's general characteristics, allergic disease status, family history of allergies, general family information, parental knowledge of allergic diseases, and whether the AIT treatment was recommended by a physician, were collected. The patients were divided into two groups according to their willingness to receive AIT: a reluctant or neutral group (n = 182), and a willing group (n = 224). A univariate analysis of the willingness to undergo AIT was done to detect parameters that significantly differed between the groups, and the identified factors were used as independent variables in the multifactorial logistic regression analysis. The severity of allergic disease, presence of drug allergy, occurrence of severe allergic reactions, mother's education, distance from home to the hospital, parental knowledge of allergic diseases, and whether the doctor recommended AIT were all statistically different between the groups (p < 0.05). Multifactorial logistic regression analysis showed that the degree of allergic rhinitis (AR), or asthma (AS), parental knowledge of allergic diseases, and doctor's recommendation of AIT were the factors that influenced the willingness of pediatric patients to receive AIT. The severity of AR and AS, parental knowledge of allergic diseases, and doctor's recommendation influenced the willingness of pediatric patients to receive AIT.

Evaluation of the possible impact of the fear of hypoglycemia on diabetes management in children and adolescents with type 1 diabetes mellitus and their parents: a cross-sectional study

PurposeHypoglycemia represents a significant source of anxiety for children with type 1 diabetes mellitus (T1DM) and their caretakers. Fear of hypoglycemia (FoH) was measured in children and adolescents with T1DM as well as in their parents using an established research instrument, the Hypoglycemia Fear Survey (HFS).MethodsThis is a two-center, cross-sectional study involving 100 children and adolescents aged 6–18 years old diagnosed with T1DM. One parent of each child also participated in the study. The participants, who were recruited from two different pediatric endocrine outpatient clinics, were asked to complete the translated Greek version of the HFS, which includes one version for children (C-HFS) and one for parents (P-HFS). The association of the questionnaire responses with subjects’ characteristics, such as current age, age at diagnosis, duration of diabetes, HbA1c levels, and mode of diabetes treatment were assessed.ResultsParents exhibited significantly higher mean HFS scores than their children. No significant correlation was found between the P-HFS or the C-HFS scores and the age of the children, duration of diabetes, HbA1c, or mode of treatment.ConclusionThe finding that parents experience higher levels of FoH compared to their children emphasizes the importance of healthcare providers to screen parental FoH and focus on approaches to support them in order to reduce their psychological burden, thus optimizing children’s diabetes management.

Validity and reliability of the Turkish version of the transition of primiparas becoming mothers scale

BackgroundThe transition to motherhood is an important life event in a woman’s life and represents an important developmental process that brings physical, psychological and social changes to gain a new role. However, research on the transition to motherhood in Turkish society is scarce. There is a need for a comprehensive, practical and reliable tool to evaluate the transition to motherhood in primiparous mothers. This study evaluated the reliability and validity of the Turkish version of the Transition of Primiparous Becoming Mothers Scale (TMP-S) to evaluate the transition process of primiparous mothers to motherhood.MethodsThis methodological research was carried out in obstetrics and gynecology outpatient clinics, pediatric outpatient clinics, and family health centers of a hospital in Türkiye. The sample consisted of primiparous mothers of 0 to 6- month-old babies who visited clinics and family health centers for routine postnatal examinations (n ​​= 305). After evaluating the language equivalence and content validity of the scale, test-retest reliability, internal consistency and construct validity were examined. Factor analysis, Pearson’s correlation, retest reliability, and Cronbach’s alpha were employed to evaluate structural validity and reliability.ResultsThe final TPM-S had two dimensions with 25 items. Exploratory factor analysis revealed a two-factor solution, which accounted for 59.276% of the variance. Confirmatory factor analysis showed that the model fit of the two-factor model also reached a satisfactory model ft after modification. The comparative fit index was 0.894, the Tucker‒Lewis index was 0.882, and the root mean square error of approximation was 0.079. The content validity index of the scale ranged from 0.56 ~ 0.77. The Cronbach’s alpha coefficient was 0.93 for the total scale, and the test–retest reliability was 0.96.ConclusionsIt is a valid and reliable tool for evaluating the transition to motherhood among primiparous mothers of 0 to 6 month-old babies in Türkiye. Turkish researchers and healthcare professionals can routinely apply this measurement tool to primiparous mothers in the first six months after birth to evaluate their transition to motherhood.

Physical activity on prescription for children with obesity: a focus group study exploring experiences in paediatric healthcare.

Insufficient physical activity is a growing public health concern and is closely linked to obesity in both adults and children. Swedish physical activity on prescription (PAP) is effective in increasing physical activity levels in adults, but knowledge about how PAP is used in paediatric healthcare is lacking. Therefore, this study aimed to explore experiences of working with PAP for children with obesity amongst paediatric staff and managers. Seven focus group discussions with 26 participants from paediatric outpatient clinics in western Sweden were conducted. Data were analysed both inductively and deductively, framed by the Normalization Process Theory's four core constructs: coherence, cognitive participation, collective action, and reflexive monitoring. The PAP work for children with obesity was experienced to be about helping children to become physically active, and less about losing weight. Identified barriers for using PAP were the non-uniform nature of the work and a perceived lack of guidelines. Collaboration with physiotherapists and physical activity organisers outside the organisation was identified as an important facilitator. An important contextual factor for implementing PAP is the collaboration between paediatric clinics and physical activity organisers. In the transition between these stakeholders, maintaining a family-centred approach when working with PAP was experienced as challenging. PAP is a well-known intervention that is inconsistently used for children with obesity. The intervention should include a family-centred approach for this patient group. It also needs to align better with existing collaborations with other healthcare units as well as with new forms of collaboration with physical activity organisers in the community.

Smith-Magenis Syndrome associated with Autism Spectrum Disorder with delayed diagnosis due to B12 deficiency: a case report

IntroductionSmith-Magenis syndrome (SMS) is a complex genetic disorder characterised by distinctive physical features, developmental delay, cognitive impairment and a typical behavioural phenotype. SMS is caused by interstitial 17p11.2 deletions (90%) involving multiple genes, including the retinoic acid-induced 1 gene (RAI1), or by pathogenic variants in RAI1 itself (10%).ObjectivesIn this case report, we present a case of Smith-Magenis syndrome with Autism Spectrum Disorder with karyotype 46,XX, 17p 11.2 gene deletion confirmed by Autism Spectrum Disorder, who was followed up in a paediatric neurology outpatient clinic with neuromotor developmental delay and whose diagnosis was delayed due to B12 deficiency. We also update scientific developments in Smith-Magenis syndrome.MethodsWe describe an 18-month-old male with Smith-Magenis syndrome and Autism Spectrum Disorder who was seen in our paediatric psychiatric outpatient clinic and who received B12 replacement with developmental delay.ResultsThe patient was followed up in the paediatric neurology outpatient clinic with delay in neuromotor developmental milestones and this delay was thought to be due to B12 deficiency (B12&lt;100 ng/L). The initial examination revealed delay in neuromotor and behavioural milestones, speech delay, wide and high nasal bridge and hypertelorism. Further physical examination revealed syndactyly of the second and third toes bilaterally and crossed lower teeth. Clinical and psychometric testing (Ankara Developmental Screening Inventory) by 2 consultants and 1 research assistant resulted in a diagnosis of intellectual disability and an additional diagnosis of Autism Spectrum Disorder due to social deficits that could not be explained by intellectual disability.ConclusionsSmith-Magenis syndrome is a well-known disorder involving the deletion of chromosome 17p11.2, which contains the RAI1 gene. This condition is associated with neuromotor and behavioural delay, as well as distinctive dysmorphic features. Clinicians should consider Smith-Magenis syndrome in the differential diagnosis for patients with delayed neuromotor and behavioural milestones, even in the presence of documented blood parameters (such as B12 deficiency) that may account for the delay.Disclosure of InterestNone Declared

Journey to 1-Million Steps: A Retrospective Case Series on Implementation of Robotic Assisted Gait Training into an Outpatient Pediatric Clinic

Journey to 1-Million Steps: A Retrospective Case Series on Implementation of Robotic Assisted Gait Training into an Outpatient Pediatric Clinic

The relationship between postpartum mothers’ dyadic coping and adjustment and psychological well-being

This study determines the relationship between postpartum mothers’ dyadic coping and adjustment strategies and their psychological well-being. The study design was descriptive and correlational; it was conducted in the pediatric outpatient clinic of a maternity hospital in Northern Türkiye. A total of 327 1–12 month postpartum mothers participated in the study. Data were collected using a personal information form, the Dyadic Coping Inventory (DCI), the Revised Dyadic Adjustment Scale (RDAS), and the Psychological Well-Being Scale. Mothers’ behavior as an individual and as a couple in dyadic coping, their perception of their partner’s behavior, and weak dyadic harmony between partners was significantly associated with risk factors affecting mothers’ psychological well-being (p < 0.05). A weak relationship was found between the dimensions of mothers’ psychological well-being and their perception of their own behavior in dyadic coping; a positive moderate relationship was found between mothers’ perception of their partner’s behavior in dyadic coping and behaviors exhibited as a couple in dyadic coping, and the former had a weak positive relationship with the dimensions of dyadic harmony and its subdimensions (p < 0.05). Self-perceived coping behavior, perception of the partner’s behavior, and joint coping behavior in dyadic coping, and weak dyadic harmony between partners were significant risk factors affecting mothers’ psychological well-being. Awareness of these factors by health professionals and individuals will increase the effectiveness of postpartum care and help couples adapt to the transition in the postpartum period, improve mother-father-infant interaction and strengthen dyadic harmony.

Effects Of Magnesium Oxide Treatment On Serum Electrolyte Levels In Constipated Children

Background: Magnesium oxide (MgO) is a standard treatment for functional constipation. However, this medication has not been evaluated extensively for possible alterations of plasma magnesium (Mg) levels and other electrolytes. This retrospective study aimed to appraise the effects of serum magnesium with some other electrolyte levels after oral MgO treatment in children with functional constipation.&#x0D; Methodology: After the approval of the local ethical committee, archives of the patients who had been admitted to two different Pediatric Surgery outpatient clinics in different cities between 2014-2018 were evaluated. The demographic findings of the patients were recorded. For the diagnosis of chronic constipation, Rome-III classification criteria were used. After complete physical examinations, if there were no possible organic reasons other than chronic dietary problems, serum electrolyte levels were obtained and evaluated. Findings were evaluated statistically and discussed with the literature.&#x0D; Result: The magnesium value was significantly higher in the constipation group (p

Journey to 1 Million Steps: A Retrospective Case Series Analyzing the Implementation of Robotic-Assisted Gait Training Into an Outpatient Pediatric Clinic.

To describe the implementation of an exoskeleton program in a rehabilitation setting using a Design Thinking framework. This is a retrospective case series of 3 randomly selected children who participated in skilled physical therapy using a pediatric exoskeleton that occurred on our journey to walking 1 000 000 steps in the exoskeleton devices. Participants ranged in age from 3 to 5 years, and all had neurologic disorders. All participants improved toward achieving their therapy goals, tolerated the exoskeleton well, and had an increased number of steps taken over time. The implementation of new technology into pediatric care and an established outpatient therapy clinic is described. The Design Thinking process applies to health care professionals and improves clinical care. Exoskeletons are effective tools for use in pediatric physical therapy.

The relationship between anterior fontanelle and head circumference in term newborns

Aims: At birth, infants have membranous cavities called fontanelles because the angles of the skull bones have not yet formed. Its size is generally accepted as an indicator of cranial development and bone maturation. Head circumference measurement is an important marker for predicting brain development, especially in early childhood. Methods: Patients followed up in the pediatric outpatient clinic of Kırşehir Training and Research Hospital between January 2020 and January 2024 were retrospectively analyzed. Anterior fontanelle width and head circumference measurements of babies born on the day recorded in the system were recorded. Results: A total of 340 (M/F: 188/152) patients were included in the study. There was a positive correlation between fontanel width and head circumference at birth, at 1 month and at 2 months (p&lt;0.05). There was no correlation between fontanel width and head circumference at 3,4,6, 9, 12 months (p&gt;0.05). Conclusion: A significant relationship was found between anterior fontanelle width and head circumference in the first months of life. It is considered to be taken into consideration in the follow-up of healthy children. However, further studies are needed in this context and our study will contribute to future studies.

Prevalence, Safety, and Metabolic Control Among Danish Children and Adolescents with Type 1 Diabetes Using Open-Source Automated Insulin Delivery Systems.

Background: Treatment of type 1 diabetes mellitus (T1DM) has become increasingly technical with rapid developments in integration of pumps and sensors to regulate insulin dosage, and patient-initiated solutions as open-source automated insulin delivery (OS-AID) systems, have gained popularity in people with diabetes. Studies have shown increased glycemic control and mental wellbeing in users of OS-AID systems. The aim of this study was to estimate the prevalence, the effect on metabolic control, the risk, and the effect on everyday life for users and their parents of OS-AID systems in Danish children and adolescents with T1DM. Methods: This retrospective cohort study recruited participants through pediatric diabetes outpatient clinics and social media. Surveys were distributed and current and retrospective data on glycemic control (HbA1c, time in range [TIR] etc.) were collected. Results: Fifty-six users of OS-AID systems out of 2950 Danish children and adolescents with T1DM were identified from all outpatient clinics in Denmark. Thirty-one responded on contact and were included (55% of the identified), median age 12 [interquartile range: 11-14] years, 51% females, and mean duration of use of OS-AID systems 2.37 ± 0.86 years. Glycemic control increased significantly with TIR increasing from mean 62.29% ± 13.68% to 70.12% ± 10.08%, *P < 0.01, and HbA1c decreasing from mean 50.13 ± 5.76 mmol/mol (6.7% ± 2.7%) to 47.86 ± 6.24 mmol/mol (6.5% ± 2.7%), **P < 0.05. No changes were found in safety parameters. Parents reported better quality of sleep evaluated by Pittsburgh Sleep Quality Index. Conclusion: This study is the first to provide knowledge on pediatric users of OS-AID systems in Denmark and found a prevalence of 1.89% for OS-AID systems, improved TIR, and no increased risk associated with use of OS-AID systems.

Assessing impaired gastric accommodation in children with functional constipation using the water load test.

This study aimed to evaluate gastric accommodation in pediatric patients with functional constipation using the water load test. This was a cross-sectional case-control study. Herein, the water load test results of children aged >4 years with functional constipation referred to a Pediatric Gastroenterology Outpatient Clinic (functional constipation group) were compared with those of a control group (without functional constipation or chronic abdominal pain) recruited from two public schools. Clinical manifestations outlined in the Rome IV criteria were used to diagnose functional constipation. Water load tests were performed after 3 h of fasting. For the test, the participants were asked to drink as much water as possible in 3 min. A total of 36 patients and 77 students were included in the functional constipation and control groups, respectively. There was no significant difference in age between the groups (8.6 ± 2.3 years and 8.8 ± 1.8 years in the functional constipation and control groups, respectively). The water load test showed intake volumes of 390 ± 245 mL and 528 ± 219 mL in the functional constipation and control groups, respectively (p = 0.001). The maximum volume in the water load test correlated with the 24 h daily intake of energy (rS = +0.42, p = 0.012), protein (rS = +0.48, p = 0.004), and water (rS = +0.39, p = 0.020) only in the group with functional constipation. According to the water load test, gastric accommodation was impaired in children with severe functional constipation. The impairment of gastric accommodation in children with severe functional constipation is related to food intake.

Anxiety, Depression, and Posttraumatic Stress Disorder in Patients With Induced Laryngeal Obstruction

Patients with induced laryngeal obstruction (ILO) present with a variety of behavioral health profiles. Identifying these profiles is crucial in that behavioral health conditions may affect treatment duration and outcomes. To characterize the prevalence of anxiety, depression, posttraumatic stress disorder (PTSD), and physical somatic symptoms in adult and pediatric patients with ILO and determine the factors associated with anxiety, depression, PTSD, and physical somatic symptoms in patients with ILO? This cross-sectional study included a nonprobability sample of 83 adult and 81 pediatric patients diagnosed with ILO at outpatient adult and pediatric otolaryngology clinics between 2021 and 2023. Exclusion criteria included a comorbid respiratory diagnosis other than asthma, head or neck cancer, or neurological impairments. Recruitment took place between September 2021 and March 2023. The analyses were run in January 2024. Patients were prospectively screened for anxiety, depression, PTSD, and somatic physical symptoms. In addition, any past behavioral health diagnoses were extracted from the medical record. Comorbidities, ILO symptoms triggers, and onset details were gathered from ILO evaluations. Adult patients completed the Screen for Adult Anxiety Related Disorders (SCAARED), depression (Patient Health Questionnaire [PHQ]-9), and somatic physical symptoms portions of the Patient Health Questionnaires (PHQ-15), and the PTSD Checklist for the Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition) (PCL-5). Pediatric patients completed the Screen for Child Anxiety Related Disorders (SCARED), depression (PHQ-9A) and somatic physical symptoms portions of the Patient Health Questionnaires for Adolescents (PHQ-15A), and the UCLA PTSD Reaction Index brief screeners. Eighty-three adult patients participated in this study (mean [SD] age, 45.8 [14.3] years; 64 female, 19 male). Eighty-one pediatric patients participated (mean [SD] age, 13.83 [2.55] years; 67 female, 14 male). Adult and pediatric patients with ILO screened positive for elevated rates of anxiety (53 adults [63%]; 49 children [60%]), depression (27 adults [32%]; 25 children [30%]), and PTSD (29 adults [34%]; 13 children [16%]). Most of the patients with anxiety and depression symptoms were formally diagnosed prior to ILO evaluation, with rates of previously diagnosed anxiety, depression, and PTSD also above published norms. Adults were twice as likely as children to present with PTSD (odds ratio, 2.1; 95% CI, 0.05-4.48). Elevated rates of physical somatic symptoms were also evident, with 38 adults (45%) and 32 children (39%) scoring in the moderate to severe range. This study found high rates of adult and pediatric patients with ILO screened positive for anxiety, depression, and PTSD symptoms. Future work should investigate how behavioral health and ILO treatments can best be coordinated to maximize treatment outcomes.

Gluten-free diet adherence in pediatric celiac patients: Evaluating CDAT questionnaire and test for gluten detection in urine.

This study aimed to evaluate the contributions of the Adapted Celiac Dietary Adherence Test (CDAT) and the Rapid Urinary Gluten Detection Test (u-GIP) in assessing gluten-free diet adherence in children and adolescents with celiac disease. Fifty-four celiac patients from two pediatric gastroenterology outpatient clinics affiliated with university hospitals were evaluated. The original CDAT was adapted for children through a transcultural process, and the original cutoff point was adopted to define adherence. A single examiner carried out the u-GIP test in fresh urine samples. Sociodemographic and clinical factors and family food security status were also evaluated. A total of 88.9% of participants (confidence interval [CI]: 77.4-95.8; p<0.001) adhered to the gluten-free diet, as determined by the adapted CDAT score, while 87.0% (CI: 75.1-94.6; p<0.001) had negative u-GIP results. Among the 48 children adhering to the CDAT, six exhibited positive u-GIP results in a urine sample. Of the six nonadherent participants, only one had a positive u-GIP result. Notably, none of the children and adolescents with celiac disease who tested positive for u-GIP reported symptoms on the day of testing, and their growth rates remained stable. Even celiac children and adolescents adhering to the CDAT questionnaire may show a positive u-GIP in a single measurement without accompanying symptoms or growth impairment. The u-GIP could be helpful in complementary tests in specific situations, such as for patients who exhibit compliant behavior but still experience symptoms or maintain persistent positive serology.

Retrospective evaluation of patients with vitamin B12 deficiency in the pediatrics outpatient clinic

Background/Aim: This study examines patients diagnosed with vitamin B12 deficiency in our department. Although rare, vitamin B12 deficiency is one of the causes of megaloblastic anemia, which can lead to negative outcomes in patients. We aim to promote earlier diagnosis to protect patients from these negative effects. Therefore, this study will contribute to raising awareness in the literature. Methods: Retrospectively, we included a total of 127 outpatient children, aged 0–18 years (0–215 months), who were diagnosed and treated for vitamin B12 deficiency at the Bagcilar Training and Research Hospital Child Health and Disease Clinic between October 2014 and February 2015. Results: Among the patients, 67 (53%) with vitamin B12 deficiency were female, while 60 (47%) were male, indicating a higher occurrence in girls. Vitamin B12 deficiency was most commonly observed in the age groups of 0-2 years and 12-17 years (adolescents). The mean vitamin B12 level was 168.1 (34.1) pg/mL, the mean hemoglobin level was 12 (1.9) g/dL, and the mean MCV (mean corpuscular volume) was 78.4 (8.1) fl. Anemia was observed in 38% of the patients, bicytopenia in 4%, neutropenia in 6%, thrombocytopenia in 9%, pancytopenia in 3%, and macrocytosis in 2%. Non-iron-deficient patients showed no difference in mean hemoglobin and RDW (red cell distribution width) when compared to iron-deficient patients. However, their B12 levels were lower. The prevalence of iron deficiency did not differ between girls and boys. Comparing patients with vitamin B12 levels lower than 150 pg/mL to those with higher levels, there were no significant differences in average Hb, MCV, and RDW. Conclusion: It should be noted that macrocytic anemia is not exclusive to vitamin B12 deficiency. Vitamin B12 deficiency can manifest as normocytic anemia and should not be overlooked in biochemical assessments. It is recommended to conduct nationwide and regional prevalence studies to evaluate vitamin B12 deficiency as a public health issue and to develop new solutions accordingly.

Chronic Pain in Autistic Youth: Clinical Prevalence and Reflections on Tailoring Evidence-Based Interventions from an Interdisciplinary Treatment Team.

Though there is growing awareness of the overrepresentation of autistic patients in chronic pain clinics, potential adaptations for the assessment and treatment of chronic pain in this population have not yet been established. To address this gap, a retrospective review of electronic medical records and discussions by an interdisciplinary pain treatment team were summarized to inform potential biopsychosocial factors affecting the presentation, assessment, and treatment of chronic pain in autistic youth. Our sample included a record review of 95 patients receiving treatment in an interdisciplinary outpatient pediatric pain clinic. Results indicated that 9% (n = 9) of the patients presented to the clinic with a prior diagnosis of autism, but an additional 21% (n = 20) were identified as likely meeting criteria for autism based on the clinical assessment of the developmental history, behaviors observed during the clinical encounter(s), and expert clinical judgment, suggesting that the prevalence rate of autism may be closer to 30% in our outpatient pediatric pain clinic. Over half (52%) of the autistic youth presented to the clinic with widespread pain, 60% identified as female, and 6% identified as gender expansive or transgender. Qualitative insights revealed that most of the autistic patients had co-occurring sensory-processing challenges and difficulty in describing their pain, emotions, and somatic experiences and exhibited cognitive inflexibility and social challenges. We summarize our team's clinical reflections on how autism-relevant biopsychosocial vulnerability factors may contribute to the experience of pain in autistic youth and propose treatment targets and adaptations for the assessment and treatment of pain in this population. Finally, we recommend the need for interventions focused on sensorimotor integration, especially for autistic youth, and describe how pain clinics may be particularly helpful for identifying and supporting autistic females, for whom the potential role of autism in pain experiences had not been considered until receiving treatment in our clinic.

Assessing Iron Deficiency Anemia in Obese Adolescents and Identifying Contributing Factors

Objective: Clinical outcomes can be significant for obesity and iron deficiency, two public health issues for which adolescents are especially vulnerable. The aim of this study was to assess the iron parameters and blood vitamin B12 levels in obese adolescents and identify the contributing variables to the development of anemia. Material and Method: The present study involved a retrospective evaluation of 260 children (130 obese-130 control) who were admitted to the Ankara Pediatrics Haematology Oncology Training and Research Hospital, Pediatric Outpatient Clinics, between March 2013 and May 2015. Body mass index (BMI) above the 95th percentile for age and gender was required for inclusion in the study group, which included children aged 12 to 18 years without acute or chronic illnesses. Data from patient files were used to collect information on physical examination findings, sociodemographic characteristics, daily dietary status, and level of physical activity. All patients had evaluations for CRP, iron parameters, vitamin B12, and complete blood count. Results: The study revealed that the obese group had significantly higher serum ferritin levels (p=0.002) and lower serum iron and vitamin B12 levels (p=0.036 and 0.047, respectively) as compared to the control group. In the obese population, elevated BMI has been demonstrated to be correlated with elevated CRP levels. Conclusion: In obese children, low serum iron and high ferritin levels can be regarded as typical reference values. Furthermore, it was discovered that low vitamin B12 levels were not associated with nutrition in obese children, although they were at risk for developing low levels

Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders.

This study aimed to evaluate clinical, biochemical, and genotypic findings of patients diagnosed with urea cycle mitochondrial transporter disorders. In this study, patients followed up with the diagnosis of urea cycle mitochondrial transporter disorders in the pediatric metabolism outpatient clinic of Diyarbakir Children's Hospital were retrospectively examined. Height, weight, head circumference, gender, age at diagnosis, follow-up period, consanguinity history between parents, and treatments of the patients included in the study were evaluated. Eight patients suffering from urea cycle mitochondrial transporter disorders were enrolled in the study. Five patients were found to have biallelic variants of the SLC25A15 gene. Two patients were found to have biallelic variants of the SLC25A13 gene. Two of our patients presented with gait disturbances and were diagnosed with HHH syndrome. One patient presented with liver failure and was diagnosed with HHH syndrome. The other three patients were identified by family screening. Citrin deficiency was detected in two patients with cholestasis and hepatomegaly in the infantile period. Ornithine levels increased in three of our patients with HHH syndrome during the first month of treatment despite a protein-restricted diet and adequate caloric intake. Increasing patients' caloric intake with HHH syndrome improves their ornithine levels. Our patients with citrin deficiency recovered clinically and biochemically before seven months.

Childhood vertigo: A retrospective series of 791 cases

Background: Vertigo is one of the most common complaints leading to admissions in pediatric neurology clinics. Diagnosis of vertigo in children is often challenging due to limited communication capacity in defining symptoms, the unreliability of neurovestibular investigations in children and the variability of etiologies. The aim of this study is to evaluate clinical and etiological profile of vertigo in childhood and to assess the diagnostic yield of neuroimaging and electroencephalography (EEG). Methods: All patients under the age of 18 years presented with vertigo to the pediatric neurology outpatient clinic of Ankara Keçiören Research and Training Hospital were included in the study. Demographic data, accompanying symptoms, family history, physical and neurological examination findings, neuroimaging, and EEG results were retrospectively analyzed. The etiological spectrum was also evaluated according to age groups. Results: A total of 791 patients (female/male=2.1) with a mean age of 13.1 years were included in the study. The most common etiologies were vestibular migraine (27.3%) and psychogenic vertigo (14.9%) in the entire cohort; whereas benign paroxysmal vertigo of childhood was the top diagnosis in children ≤12 years (25%). The most common accompanying symptom was headache (36.7%) which was most frequently associated with vertigo attacks in migrainous patients. In most cases there was no correlation between neuroimaging findings and vertigo. Additionally, the contribution of EEG to the diagnosis was found to be limited. Conclusion: Most of the childhood vertigo cases can be diagnosed accurately by a detailed medical history, physical and neurological examination. A multidisciplinary approach is essential for evaluating childhood vertigo and all the signs and symptoms accompanying vertigo should be considered while planning further investigations including neuroimaging and EEG.