Evaluation of functional gastrointestinal disorders in children aged 4-10 years with autism spectrum disorder.

BACKGROUND: Gastrointestinal system disorders are known to be prevalent among children with autism spectrum disorder (ASD). Some ASD-associated comorbidities are abdominal pain, constipation, diarrhea, gastroesophageal reflux, sleep disturbances, epilepsy, and psychiatric problems. Nonetheless, there is still limited information about the presence of functional GI disorders (FGIDs) among children with ASD, especially in Türkiye. Using the Rome criteria, we aimed to investigate FGIDs in children with ASD. METHODS: The sample of the study consisted of 68 children aged 4-10 years, diagnosed with ASD according to the DSM-5 diagnostic criteria and had scores greater than 30 on the Childhood Autism Rating Scale (CARS-2) and an age-sex matched control group (n=78). The Rome III criteria were used to evaluate FGIDs. RESULTS: The frequency of FGIDs in the ASD group was higher (76.5%) compared to the control group (p < 0.001). Compared to the control group, abdominal migraine frequency increased 10 times (p=0.012), functional constipation 7 times (p < 0.001), and fecal incontinence 6 times (p < 0.001) in the ASD group. Stool retention was not present in most children in the ASD group who were found to have fecal incontinence. CONCLUSION: In this study, the most common FGIDs in the ASD group were abdominal migraine, functional constipation, and non-retentive fecal incontinence. The finding that most children with ASD who had fecal incontinence did not show stool retention implicated social, psychological, and behavioral factors as the causes of incontinence. Raising awareness of healthcare professionals about the frequency of FGIDs in children with ASD will improve many areas in the daily lives of these children.

Uroflowmetry parameters in healthy children between 5 and 15 years old.

OBJECTIVES: Uroflowmetry (UFM) is the first-line noninvasive screening test employed in the diagnosis of lower urinary tract dysfunction (LUTD). The purpose of this study was to determine normal UFM values in healthy Turkish children among our local population. METHODS: A total of 100 healthy girls and 62 healthy boys aged 5-15 years, who applied to Inönü University Turgut Özal Medical Center Pediatrics Polyclinic between February 2021 and January 2022, were included in the present study. The UFM parameters, including maximum flow rate (Qmax), average flow rate (Qavg), voided volume (VV), time to maximum flow, and voiding time, were measured using the Inoflow Smart System UFM Device and the resulting urine flow curve was recorded. The children were compared in terms of the UFM parameters based on their gender and age groups (5-10 years and 11-15 years). RESULTS: The mean Qmax value in healthy female children aged 5-15 years (21.8 ± 8.6 mL/s) was significantly higher than in male children (17.98 ± 6.1 mL/s) (p = .003). VV, Qmax, and Qavg values of the children in the 11-15 age group were significantly higher than those in the age group of 5-10 years (p > .05 for each). VV, Qmax, and Qavg values were directly proportional to age (p = .0001, for each). CONCLUSIONS: We believe that this study adds to the limited knowledge base regarding normal flow patterns in healthy children.

Efficacy of aromatase inhibitor therapy in a case with large cell calcifying Sertoli cell tumour-associated prepubertal gynaecomastia.

OBJECTIVES: Large cell calcifying Sertoli cell tumours (LCCSCTs) are one of the infrequent causes of prepubertal gynaecomastia. Most of these tumours are in the content of Peutz-Jeghers syndrome (PJS) or other familial syndromes (Carney complex). CASE PRESENTATION: Here, we report a long-term follow-up of an 8.5-year-old prepubertal boy with a diagnosis of PJS, who presented with bilateral gynaecomastia, advanced bone age and accelerated growth velocity, and were found to have bilateral multifocal testicular microcalcifications. As the findings were compatible with LCCSCT, anastrozole was initiated. Gynaecomastia completely regressed and growth velocity and pubertal development were appropriate for age during follow-up. Testicular lesions slightly increased in size. After four years of medication, anastrozole was discontinued but was restarted due to the recurrence of gynaecomastia after six months. CONCLUSIONS: Testicular tumour should be investigated in a patient with PJS who presents with prepubertal gynaecomastia. When findings are consistent with LCCSCT, aromatase inhibitors may be preferred in the treatment.

COmparisoN of TastES of Available NutriTional integrated or non-integrated formulas for infants older than 1 year of age with cow's milk allergy: A multicenter, prospective, single blind, cross-sectional observational clinical study (CONTEST Study).

Palatability of the infant formulas lacking cow milk protein formulas is reported by parents to be an important drawback. The purpose of this study is to examine decisions made by mothers of infants having cow milk protein allergy, and physicians concerning the palatability of unflavored extensively hydrolyzed formulas and amino acid-based formulas. We conducted a multi-center, randomized, single-blinded, observational taste study involving 149 pediatricians from gastroenterology and allergy subspecialties at 14 tertiary healthcare units from different regions of Turkey and involving 94 mothers of infants with cow milk protein allergy. Blinding was performed for seven formulas available in the market, which were the most commonly prescribed for feeding: four AAFs (Neocate-Numil®, Aptamil Pregomin AS-Numil®, Alfamino-Nestle®, Comidagen-Mamma®), one AAF specifically designed to address the growing nutritional and lifestyle needs of children >1 year (Neocate Junior-Numil®), 2 eHFs (Bebelac Pepti Junior-Numil®, Similac Alimentum-Abott®). Considering all three formula characteristics, Neocate junior-Numil® ranked as the number 1 product among seven products by mothers (63.8%) and physicians (69.8%). The ratings of mothers were significantly higher than the physicians (8.1 points and 6.1 points, respectively; p < 0.001). No difference was found in terms of taste, smell, and appearance for Neocate junior-Numil® between the mothers' and physicians' ratings. Since caregivers have responsibility for careful selection of replacement products for infants with cow milk protein allergy, it is noteworthy that increased awareness and confidence in the palatability characteristics of these products should motivate mothers and physicians to comply with replacement treatment in the long term.

Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study.

BACKGROUND: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. METHODS: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. RESULTS: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/ heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P = .031, P = .045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P = .007). CONCLUSION: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.

Altered regional grey matter volume and appetite-related hormone levels in adolescent obesity with or without binge-eating disorder.

PURPOSE: Binge eating disorder (BED) is characterized by frequent and persistent overeating episodes of binge eating without compensatory behaviors. The aim was to evaluate regional gray matter volume (GMV) abnormalities and appetite-regulating hormone levels (NPY and Leptin) in obese subjects either with or without BED compared to healthy controls (HC). METHODS: Twenty-six obese patients with BED, 25 obese patients without BED and 27 healthy subjects as an age-matched control group with neuroimaging and appetite-regulating hormone levels were found eligible for regional GMV abnormalities. A structural magnetic resonance scan and timely blood samples were drawn to assess the appetite-regulating hormone levels. RESULTS: The BED obese patients had a greater GMVs of the right medial orbitofrontal cortex (OFC) and the left medial OFC compared to the non-BED obese patients. BED patients were characterized by greater GMV of the left medial OFC than HCs. Relative to the HCs, higher serum NPY levels were found in BED obese and non-BED obese groups. Serum leptin levels (pg/mL) had positively correlations with GMV in right medial OFC, left medial OFC, right lateral OFC, and left anterior cingulate cortex. CONCLUSION: Among the reward processing network, which is largely associated with feeding behaviours in individuals with obesity and binge eating disorder, the OFC volumes was correlated with serum leptin concentrations. The results of our study may provide a rationale for exploring the link between regional grey matter volumes and appetite-related hormone levels in people with BED. LEVEL OF EVIDENCE: Level III, case-control analytic study.

Evaluation of Thyroid Function Tests in Children with Chronic Liver Diseases

Objective: Studies examining changes in thyroid function in the course of chronic liver disease have mostly been conducted in adults. The aim of this study was to investigate thyroid dysfunction in children with chronic liver diseases. Methods: Between 2005 and 2018, patients aged up to 18 years of age, diagnosed with chronic liver disease and had thyroid function test results available were included. Anthropometric characteristics, liver and thyroid function results were collected and analyzed. Results: The study included 107 (53 female; 49.5%) patients aged between one month and 18 years-old. Of the 107 patients, 96 (89.7%) had normal thyroid function results, seven (6.5%) had subclinical hypothyroidism (SH) and four (3.7%) had euthyroid sick syndrome. Of the patients with SH, one (14.2%) had glycogen storage diasease, one (14.2%) had biliary atresia, one (14.2%) had undiagnosed cholestatic liver disease, one (14.2%) had Alagille syndrome, one (14.2%) had idiopatic hepatitis, one (14.2%) had progressive familial intra-hepatic cholestasis and one (14.2%) had congenital hepatic fibrosis. Spearman correlation analysis showed a negative correlation between free tri-iodothyronine and direct bilirubin (r=-0.329, p=0.027). Conclusion: In conclusion, euthyroid sick syndrome or SH may affect up to 10% of children with chronic liver diseases. It is suggested that thyroid function should be evaluated in cases of pediatric chronic liver disease at diagnosis and during follow-up. Moreover, this study is the first to show a negative correlation between free T3 levels and direct bilirubin, suggesting a possible association between liver disease severity and thyroid function.

The Effects of Breastfeeding in Infants With Phenylketonuria.

PURPOSE: In the early years of phenylketonuria (PKU) treatment, mothers and healthcare professionals often decide to discontinue breastfeeding after the diagnosis of PKU in infants. It was believed to be the only effective way to monitor the infant's intake and allow for precise titration and measurement of the intake of phenylalanine (Phe). In the early 1980s, with the determination of low concentration of Phe in breast milk, breast milk supplemented with Phe-free formula has become an acceptable dietary treatment for infants with PKU. Today, breastfeeding is encouraged and well established in PKU patients. The aim of the present study is to investigate the prevalence and duration of breastfeeding, the effect of breastfeeding on serum Phe levels, and weight gain in infants with PKU. DESIGN AND METHODS: Data were collected from chart reviews. Medical records of 142 children with PKU diagnosed via the national neonatal screening program were analyzed retrospectively. RESULTS: Of the 41 infants with complete medical records, 40 (97.6%) were breastfed following delivery whereas only one (2.4%) was bottle fed. After the diagnosis, breastfeeding was continued in 25 (61%) infants with phenylalanine-free amino acid based protein substitute. The mean duration of breastfeeding was 7.4±4.0 (1-15) months. Serum Phe concentration of breastfed infants (280±163 µmol/L) was significantly lower than non-breastfed infants (490±199 µmol/L) (p<0.001). Mean monthly weight gain in the first year of life was significantly higher in breastfed patients (493±159 g/month) compared to non-breastfed patients (399±116 g/month) (p=0.046). CONCLUSION: In the first year of life, weight gain and serum Phe levels were more favorable in breastfed infants with PKU compared to non-breastfed infants with PKU.

Rotational effects on the dissociation dynamics of CHD3 on Pt(111).

Dissociation of methane on metal surfaces is of high practical and fundamental interest. Therefore there is currently a big push aimed at determining the simplest dynamical model that allows the reaction dynamics to be described with quantitative accuracy using quantum dynamics. Using five-dimensional quantum dynamical and full-dimensional ab initio molecular dynamics calculations, we show that the CD3 umbrella axis of CHD3 must reorient before the molecule reaches the barrier for C-H cleavage to occur in reaction on Pt(111). This rules out the application of the rotationally sudden approximation, as explicitly shown through a comparison with calculations using this approximation. Further, we suggest that the observed umbrella swing should strongly affect the sensitivity of C-H cleavage to the initial alignment of the molecule relative to the surface as found experimentally for closely related systems. We find very large differences in reactivity for molecules pre-excited to different rotational states, particularly if these states are associated with different orientations of the C-H bond.

Screening of celiac disease in children with Henoch-Schoenlein purpura.

Prevalence of celiac disease (CD) is 2.42 % in healthy Turkish children. The frequency of IgA-associated disorders is increased in CD. Henoch-Schoenlein purpura (HSP) is an IgA-associated vasculitis. Association of HSP with CD has not been evaluated. We aimed to evaluate whether CD prevalence is increased in children with HSP. Children with HSP were evaluated for demographic, anthropometric, clinical, and laboratory data including urinalysis, complete blood count, albumin, creatinine, and IgA levels. In addition, tTG-IgA, EMA-IgA, anti-DGP-IgA, and IgG antibody levels were measured. Seropositive patients were evaluated by endoscopic small bowel biopsy. The rate of CD seropositivity and confirmed CD in HSP patients was compared to the rate in healthy Turkish children. There were 42 children (25 male) with HSP. No patient had classical CD symptoms, but two patients had growth failure. None of them had IgA deficiency, anemia or hypoalbuminemia. Celiac serology was positive in five (12 %) children. Endoscopic evaluation was performed in four patients, and two (5 %) of them were confirmed to have CD. Prevalence of both CD seropositivity and histologically confirmed CD in children with HSP was significantly higher compared to healthy Turkish children (p < 0.001 and p = 0.019, respectively). CD seropositivity rate in children with HSP (12 %) is significantly higher than the rate in healthy children. Although the number of children with HSP is small in this preliminary study, this result suggests that celiac screening may be considered in children with HSP.

Atomoxetine treatment may decrease striatal dopaminergic transporter availability after 8 weeks: pilot SPECT report of three cases.

Attention deficit/hyperactivity disorder is one of the most common neurodevelopmental disorders. The pathophysiology is thought to involve noradrenaline and dopamine. The role of dopamine transporter (DAT) was evaluated in imaging studies using mostly dopamine reuptake inhibitors. Atomoxetine is a selective noradrenaline reuptake inhibitor. Here we report the results of a pilot study conducted to evaluate changes in striatal DAT after 8 weeks of atomoxetine treatment. Our results suggest that 8 weeks of atomoxetine treatment may change striatal DAT bioavailability as measured via SPECT but that change was not correlated with genotype or clinical improvement.

Sedation Practice Outside the Operating Room for Pediatric Gastrointestinal Endoscopy.

Medical records of the 575 children who underwent gastrointestinal endoscopy outside the operating room were investigated retrospectively. The most frequently used combinations were propofol-midazolam-fentanyl in 83.2% of the procedures and propofol-midazolam in 13.8% of the procedures. 24 (3.4%) of 703 procedures had complications due to sedation anesthesia; 11 had hypoxia and 8 had pain in the injection area. Sedation anesthesia practice provided by an anesthesiologist outside the operating room enables gastrointestional endoscopic procedures to be carried out more safely.

Relationships between pediatric obesity and maternal emotional states and attitudes.

OBJECTIVE: The goal of this study was to investigate depression and anxiety levels of mothers whose child (7-11 years) and adolescent (12-18 years) offspring had obesity, as well as those mothers' attitudes toward their children and their family relationships. METHOD: This is a cross-sectional, case-control study of 100 dyads. All mothers completed the Beck Depression Inventory, the State-Trait Anxiety Inventory, the Parental Attitude Research Instrument, and the Family Assessment Device. RESULTS: Maternal state anxiety in the group with obesity was significantly higher than controls (p = 0.03). As measured by Family Assessment Device, affective involvement (p = 0.05) and behavior control (p = 0.00) scores were significantly higher for those with obesity. Obesity and adolescence have independent effects on maternal state anxiety; affective involvement domain of family function is affected by both obesity and its interaction with adolescence, while behavior control domain is singularly affected by obesity. CONCLUSIONS: Our results may demonstrate that, for the mothers of children who have obesity, this condition may have an adverse effect on their lives and their family relationships. Pediatric obesity and developmental stage of offspring may have different effects on maternally reported psychometric variables. Cross-sectional design may hinder causal explanations. Further studies with longitudinal designs are needed.

Fatty liver in childhood.

Fatty liver is a growing health problem worldwide. It might evolve to nonalcoholic steatohepatitis, cirrhosis and cause hepatocellular carcinoma. This disease, which has increased because of eating habits, changes in food content and lifestyle, affects people from childhood. The most important risk factors are obesity and insulin resistance. Besides these factors, gender, ethnicity, genetic predisposition and some medical problems are also important. Cirrhosis in children is rare but is reported. Nonalcoholic fatty liver disease (NAFLD) has no specific symptoms or signs but should be considered in obese children. NAFLD does not have a proven treatment. Weight loss with family based treatments is the most acceptable management. Exercise and an applicable diet with low glycemic index and appropriate calorie intake are preferred. Drugs are promising but not sufficient in children for today.

Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature.

Crigler-Najjar syndrome type I is an autosomal recessive inherited disease and rarely seen in childhood. Bilirubin neurotoxicity is the morbidity of the disease due to the elevated unconjugated bilirubin levels. Mental retardation, seizures, cognitive dysfunction, oculomotor nerve palsy, ataxia, choreoathetosis, and spasticity may be seen. Due to the high bilirubin levels, alterations in the neurophysiological studies may be detected. In this study, we describe two siblings who were diagnosed with Crigler-Najjar syndrome type I who underwent a successful liver transplantation using a single cadaveric organ, together with their neurophysiological follow-up and review of the literature.

Helicobacter pylori infection among children with Phenylketonuria.

This study aimed to determine the frequency of Helicobacter pylori infections in children with phenylketonuria (PKU). Sixty-six children with PKU (35 boys, 31 girls; mean age, 8.2 ± 6.7 years) and 32 outpatient controls (15 boys, 17 girls; mean age, 9.6 ± 4.7 years) were studied. Socioeconomic factors did not differ between the two groups. The frequency of H. pylori infections was higher in patients with PKU (28.1%) than in healthy controls (9.4%). In particular, a higher frequency of infection was detected in patients with PKU with poor metabolic control (51.8%). The frequency of H. pylori infection in patients with PKU with good metabolic control was only 10.2%. There was no difference in the mean total WISC-R score between the poor and good metabolic control groups. A high frequency of H. pylori infection in children with PKU with poor metabolic control could be related to many factors. Advanced and standardized clinical studies on H. pylori infections in children with PKU are required.