The Effect of Nusinersen Therapy on Laboratory Parameters of Patients with Spinal Muscular Atrophy.

INTRODUCTION: We evaluated the effect of nusinersen on clinical and laboratory parameters and presented its safety and effect on laboratory parameters. METHODS: Two groups were formed from among patients with spinal muscular atrophy (SMA) followed up between September 2017 and June 2021: group 1, SMA type 1; group 2, SMA type 2 and 3. The laboratory parameters were evaluated in groups 1 and 2 between doses. Motor scale tests were performed on patients before each dose of nusinersen. RESULTS: Twenty seven patients (group 1; n = 13, group 2; n = 14) were included. The mean age (±standard deviation) at the onset of symptoms was 3 ± 1.21 (range, 1.5-6) months in group 1 and 12 ± 4.27 (range, 8-24) months in group 2. No significant laboratory treatment-related abnormalities and adverse effects were observed. The cerebrospinal fluid protein levels and the frequency of conventional LP were higher in group 1. Serum creatinine (Cr) levels were higher in group 1 before the first dose and higher in group 2 before the fifth dose (p < 0.05). With treatment, the Cr levels of group 1 decreased and group 2 remained constant or increased. We observed that the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and Hammersmith Functional Motor Scale-Expand scores increased as our patients received treatment (p < 0.05). CONCLUSION: Our results support the safety and efficacy of nusinersen. However, changes in Cr levels according to the clinical type and treatment suggested that serum Cr could be a candidate marker for treatment follow-up.

Blood neurofilament light chain and thrombospondin-1 levels of patients with autism spectrum disorder.

BACKGROUND: Neurofilaments are intermediary filaments associated with neurodegenerative processes. Thrombospondin-1 (TSP-1) is a biological marker playing a role in synaptogenesis. This study aimed to investigate serum neurofilament light chain (NFL), and TSP1 levels of patients with autism spectrum disorder (ASD) compared to typically developing (TD) children. METHODS: Forty-three patients with ASD and forty-five TD children were included. Serum biomarker levels were measured using the sandwich ELISA technique. The Childhood Autism Rating Scale (CARS) was implemented to measure the severity of ASD. RESULTS: NFL and TSP1 levels did not differ between study groups (For NFL, ASD = 47.8 ± 11.4 vs. TD = 48.2 ± 15.3 pg/mL, p = 0.785; for TSP1, ASD = 224.4 ± 53.7 vs. TD = 224.7 ± 69.0 ng/mL, p = 0.828). Stereotyped behavior and sensory sensitivity domain of the CARS scale was negatively correlated with serum TSP-1 (r = -0.390, p = 0.010) and NFL (r = -0.377, p = 0.013) levels. Age was also positively correlated with NFL levels (r = 0.332, p = 0.030) in the ASD groups but not in the TD group. DISCUSSION: Our results did not support the neurodegenerative process of ASD. Future studies are needed to investigate neuroprogression in a longitudinal follow-up.

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.

Hereditary lower motor neuron diseases (LMND) other than 5q-spinal muscular atrophy (5q-SMA) can be classified according to affected muscle groups. Proximal and distal forms of non-5q-SMA represent a clinically and genetically heterogeneous spectrum characterized by significant overlaps with axonal forms of Charcot-Marie-Tooth (CMT) disease. A consensus for the best approach to molecular diagnosis needs to be reached, especially in light of continuous novel gene discovery and falling costs of next-generation sequencing (NGS). We performed exome sequencing (ES) in 41 families presenting with non-5q-SMA or axonal CMT, 25 of which had undergone a previous negative neuromuscular disease (NMD) gene panel analysis. The total diagnostic yield of ES was 41%. Diagnostic success in the cohort with a previous NMD-panel analysis was significantly extended by ES, primarily due to novel gene associated-phenotypes and uncharacteristic phenotypic presentations. We recommend early ES for individuals with hereditary LMND presenting uncharacteristic or significantly overlapping features. As mitochondrial dysfunction was the underlying pathomechanism in 47% of the solved individuals, we highlight the sensitivity of the anterior horn cell and peripheral nerve to mitochondrial imbalance as well as the necessity to screen for mitochondrial disorders in individuals presenting predominant lower motor neuron symptoms.

Risk Factors of Post-Stroke Epilepsy in Children; Experience from a Tertiary Center and a Brief Review of the Literature.

OBJECTIVES: Acute seizures and post-stroke epilepsy have been reported more frequently in patients with pediatric stroke than adults. Acute seizures in the first days of a stroke may deteriorate stroke and ischemia-related neurodegeneration and contribute to the development of post-stroke epilepsy. In this study, we aimed to investigate risk factors for the development of post-stroke epilepsy in children with arterial ischemic stroke. MATERIALS AND METHODS: We recruited 86 children with arterial ischemic stroke. We analyzed variables, including age at admission, gender, complaints at presentation, focal or diffuse neurologic signs, neurologic examination findings, laboratory investigations that were conducted at admission with stroke (complete blood cell count, biochemical-infectious-metabolic-immunological investigations, vitamin B12 levels, vitamin D levels), neuroimaging results, etiologies, time of the first seizure, time of remote seizures, and development of neurologic deficit retrospectively. Seizures during the first six hours after stroke onset were defined as 'very early seizures'. 'Early seizures' were referred to seizures during the first 48 h. Patients who experienced two or more seizures that occurred after the acute phase of seizures were classified as 'epileptic.' A binary logistic regression analysis was used to estimate risk factors. RESULTS: An acute seizure was detected in 59% and post-stroke epilepsy developed in 41% of our cohort. Binary logistic regression analysis demonstrated that 'very early seizures' increased epilepsy risk six-fold. Epilepsy was 16 times higher in patients with 'early seizures'. Low vitamin D levels were defined as a risk factor for post-stroke epilepsy. CONCLUSION: Seizures in the very early period (within the first six hours) are the most significant risk factors for the development of post-stroke epilepsy Further studies regarding seizure prevention and neuroprotective therapies are needed because post-stroke epilepsy will affect long term prognosis in patients with pediatric stroke.

Herpes simplex virus-1 as a rare etiology of isolated acute cerebellitis: case report and literature review.

Acute cerebellitis is one of the most common cerebellar disorders and occurs due to para-infectious, post-infectious, or post-vaccination cerebellar inflammation. Herpes simplex virus-1 (HSV-1) is known as a common infectious cause of sporadic encephalitis. Cerebellar involvement of HSV-1 is rare and almost always associated with meningoencephalitis. To date, HSV-1 has been identified as the cause of acute isolated cerebellitis in only two patients. Here we report another case of isolated acute cerebellitis caused by HSV-1 in a 20-month-old boy.

Neuroprotective Effects of Lacosamide and Memantine on Hyperoxic Brain Injury in Rats.

In neonates supraphysiological oxygen therapy has been demonstrated to cause neuronal death in hippocampus, prefrontal cortex, parietal cortex, and retrosplenial cortex. There is a need for the detection of novel neuroprotective drugs. Neuroprotective effects of lacosamide or memantine have been demonstrated in adult patients with ischemia, trauma and status epilepticus. The effects in immature brains may be different. This study aimed to evaluate neuroprotective effects of lacosamide and memantine treatment in a hyperoxia-induced brain injury model in immature rats. This study was performed in the Animal Experiments Laboratory of Dokuz Eylul University Faculty of Medicine. Neonatal Wistar strain rat pups were exposed to hyperoxia (80% oxygen + 20% nitrogen) for five days postnatally. They were divided into five groups; hyperoxia + lacosamide, hyperoxia + memantine, hyperoxia + lacosamide and memantine, hyperoxia + saline, control groups. After termination of the experiment, brain tissues were examined. Neuron counting in examined regions were found to be higher in hyperoxia + memantine and hyperoxia + lacosamide and memantine groups than hyperoxia + saline group. The presence of apoptotic cells evaluated with TUNEL and active Caspase-3 in hyperoxia + memantine and hyperoxia + lacosamide and memantine groups were found to be lower compared to hyperoxia + saline group. This study demonstrates that neuron death and apoptosis in newborn rat brains after hyperoxia is reduced upon memantine treatment. This is the first study to show the effects of memantine and lacosamide on hyperoxia-induced damage in neonatal rat brains.

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.

Infantile hereditary lower motor neuron disorders beyond 5q-spinal muscular atrophy (5q-SMA) are usually caused by mutations other than deletions or mutations in SMN1. In addition to motor neuron degeneration, further neurologic or multisystemic pathologies in non-5q-SMAs are not seldom. Some of the non-5q-SMA phenotypes, such as pontocerebellar hypoplasia (PCH1), have been classified later as a different disease group due to distinctive primary pathologies. Likewise, a novel phenotype, childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) has been described recently in individuals with lower motor neuron disorder and cerebellar atrophy due to biallelic loss-of-function variants in AGTPBP1 that encodes cytosolic carboxypeptidase 1 (CCP1). Here we present two individuals with CONDCA in whom a biallelic missense AGTPBP1 variant (NM_001330701.1:c.2396G>T, p.Arg799Leu) was identified by whole exome sequencing. Affected individuals in this report correspond to the severe infantile spectrum of the disease and underline the severe pathogenic effect of this missense variant. This report is the second in the literature that delineates the pathogenic effects of biallelic AGTPBP1 variants presenting the recently described CONDCA disease.

Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function.

BACKGROUND: Stuve-Wiedemann syndrome (STWS) (MIM #601559) is a rare autosomal recessive disorder caused by mutations in the leukemia inhibitory factor receptor (LIFR) gene. STWS has a diverse range of clinical features involving hematopoietic, skeletal, neuronal and immune systems. STWS manifests a high mortality due to increased risk of sudden death. Heterodimerization of the LIFR mediates leukemia inhibitory factor (LIF) signalling through the intracellular Janus kinase (JAK)/STAT3 signalling cascade. The LIF/LIFR system is highly expressed in and regulates the hypothalamo-pituitary-adrenal (HPA) axis. OBJECTIVES: HPA function was investigated in three STWS patients to characterise consequences of impaired LIF/LIFR signalling on adrenal function. DESIGN: Six genetically proven STWS patients from four unrelated Turkish families were included in the study. Sudden death occurred in three before 2 years of age. Basal adrenal function tests were performed by measurement of early morning serum cortisol and plasma ACTH concentrations on at least two different occasions. Low dose synacthen stimulation test and glucagon stimulation tests were performed to explore adrenal function in three patients who survived. RESULTS: All patients carried the same LIFR (p.Arg692X) mutation. Our oldest patient had attenuated morning serum cortisol and plasma ACTH levels at repeated measurements. Two of three patients had attenuated cortisol response (<18 µg/dl) to glucagon, one of whom also had borderline cortisol response to low dose (1 µg) ACTH stimulation consistent with central adrenal insufficiency. CONCLUSIONS: STWS patients may develop central adrenal insufficiency due to impaired LIF/LIFR signalling. LIF/LIFR system plays a role in human HPA axis regulation.

Jacobsen syndrome without thrombocytopenia: a case report and review of the literature.

Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. The estimated occurrence of JS is about 1/100,000 births. The female/male ratio is 2:1. The patient admitted to our clinic at 3.5 years of age with a cardiac murmur and facial anomalies. Facial anomalies included trigonocephaly with bulging forehead, hypertelorism, telecanthus, downward slanting palpebral fissures, and a carp-shaped mouth. The patient also had strabismus. An echocardiogram demonstrated perimembranous aneurysmatic ventricular septal defect and a secundum atrial defect. The patient was <3rd percentile for height and weight and showed some developmental delay. Magnetic resonance imaging (MRI) showed hyperintensive gliotic signal changes in periventricular cerebral white matter, and leukodystrophy was suspected. Chromosomal analysis of the patient showed terminal deletion of chromosome 11. The karyotype was designated 46, XX, del(11) (q24.1). A review of published reports shows that the severity of the observed clinical abnormalities in patients with JS is not clearly correlated with the extent of the deletion. Most of the patients with JS had short stature, and some of them had documented growth hormone deficiency, or central or primary hypothyroidism. In patients with the classical phenotype, the diagnosis is suspected on the basis of clinical findings: intellectual disability, facial dysmorphic features and thrombocytopenia. The diagnosis must be confirmed by cytogenetic analysis. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. In this report, we describe a patient with the clinical features of JS without thrombocytopenia. To our knowledge, this is the first case reported from Turkey.

Paediatricians' awareness of children's oral health: Knowledge, training, attitudes and practices among Turkish paediatricians.

BACKGROUND: In Turkey, 74.1% of children between three and six years of age develop dental caries. OBJECTIVE: To assess the depth of oral health and dental knowledge among paediatricians in Turkey, to determine their level of oral health education and to determine factors that were associated with higher knowledge scores. METHODS: A cross-sectional survey of demographics that assessed the participants' knowledge of oral and dental health, attitudes regarding oral health during well-child visits and opinions regarding infant oral health care visits was conducted. The outcome variables were the proportions of paediatricians who adhered to good clinical practice guidelines, recommended dental visits for children younger than one year of age, and having a knowledge score >50%. RESULTS: The participant characteristics that were significantly associated with a greater mean number of correct answers were female sex, good clinical practice, confidence in detecting dental caries and the presence of a dentistry department in their hospital (P=0.001, P<0.001, P<0.001 and P=0.02, respectively). Only 13.9% of paediatricians referred children younger than one year of age to a dentist. After adjusting for the level of oral health education received during residency training, sex and having children, only the knowledge score was significantly associated with referring patients younger than one year of age to a dentist (P=0.01). CONCLUSIONS: Some paediatricians' knowledge was found to be associated with practices that were in accordance with professional society recommendations. The lack of dental knowledge and training in residency limits the paediatricians' role in promoting children's oral health in daily practice.

HISTORIQUE: En Turquie, 74,1 % des enfants de trois à six ans ont des caries dentaires. OBJECTIF: Évaluer la profondeur des connaissances sur la santé buccale et la santé dentaire chez les pédiatres de la Turquie, afin de déterminer leur taux de formation en santé buccodentaire et les facteurs associés à des indices de connaissances plus élevés. MÉTHODOLOGIE: Les chercheurs ont mené une étude transversale des données démographiques qui évaluait les connaissances des participants en matière de santé buccale et dentaire, leurs attitudes au sujet de la santé buccale pendant le bilan de santé et leurs opinions au sujet des consultations en santé buccale. Les variables d'issue étaient la proportion de pédiatres qui adhéraient à de bonnes directives de pratique clinique, qui recommandaient des consultations dentaires chez les enfants de moins d'un an et qui obtenaient un indice de connaissances de plus de 50 %. RÉSULTATS: Les caractéristiques des participants qui s'associaient de manière significative à un plus grand nombre moyen de bonnes réponses étaient le sexe féminin, de bonnes pratiques cliniques, la confiance à déceler la carie dentaire et la présence d'un département de dentisterie au sein de l'hôpital (P=0,001, P<0,001, P<0,001 et P=0,02, respectivement). Seulement 13,9 % des pédiatres aiguillaient des enfants de moins d'un an vers un dentiste. Après rajustement pour tenir compte de la formation en santé buccale acquise pendant la formation en résidence, du sexe et du fait d'avoir des enfants, seul l'indice de connaissances s'associait de manière significative à l'aiguillage des patients de moins d'un an vers un dentiste (P=0,01). CONCLUSIONS: Les chercheurs ont découvert que les connaissances de certains pédiatres s'associaient à des pratiques conformes aux recommandations de leur société professionnelle. Le manque de connaissances et de formation en santé dentaire transmises pendant la résidence limite le rôle du pédiatre dans la promotion de la santé buccodentaire dans le cadre de leur pratique quotidienne.

Comparison of oral alendronate versus prednisolone in treatment of infants with vitamin D intoxication.

AIM: The aim of this report was to compare the efficacy of oral alendronate versus prednisolone treatment in addition to conventional measures in infants with vitamin D intoxication. METHODS: In six infants (aged 8.0 ± 2.1 months) with vitamin D intoxication, time to achieve normocalcemia with prednisolone treatment (Group I, n = 4) or alendronate treatment (Group II, n = 4, two infants started treatment from the baseline and two after unsuccessful prednisolone treatment) in addition to intravenous hydration and diuretic therapy were compared. RESULTS: Baseline serum calcium levels ranged between 3.8 and 4.77 mmol/L. In the prednisolone group, although two patients reached normocalcemia on 7th and 12th days of treatment, other two patients did not despite 23 and 15 days of treatment and therefore switched to alendronate treatment. The mean duration of prednisolone treatment in these four patients was 14.2 ± 6.7 days (range 7-23). In the alendronate group, two patients who started treatment from the baseline achieved normocalcemia on the 5th day. Other two patients achieved normocalcemia 2 days after switching to alendronate. Thus, the mean time to reach normocalcemia after single oral alendronate administration was 3.5 ± 1.7 days (range 2-5) (p < 0.01 versus Group I). CONCLUSION: Alendronate treatment achieves normocalcemia four times earlier than prednisolone treatment and shortens hospital stay in infants with vitamin D intoxication.

VACTERL association: a new case with biotinidase deficiency and annular pancreas.

VACTERL (V - Vertebral anomalies, A - Anal atresia, C - Cardiovascular anomalies, T - Tracheoesophageal fistula, E - Esophageal atresia, R - Renal (Kidney) and/or radial anomalies, L - Limb defects) association includes vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal dysplasia, and limb anomalies. Less frequent defects seen with VACTERL association are prenatal and postnatal growth deficiency, laryngeal stenosis, ear anomaly, large fontanels, defect of lower limb, rib anomaly, tethered cord, and defects of external genitalia. We report a case of VACTERL association who had concomitant biotinidase deficiency and annular pancreas, which has not been previously reported.

Rare presentation of levamisole-induced leukoencephalopathy in a pediatric patient: seizure.

BACKGROUND: Levamisole is an imidazole derivative used in the treatment of various cancers, dermatological diseases, and parasitosis. Illegal use of levamisole by mixing it with cocaine in order to increase the psychotropic effects has also increased in recent years. Leukoencephalopathy is one of levamisole`s most prominent neurological side effects. CASE: Here we present the clinical, laboratory, imaging findings, treatment, and follow-up information of a 12-year-old girl who presented with seizures due to levamisole, which was prescribed to treat vitiligo. CONCLUSION: Levamisole-induced leukoencephalopathy should be considered in the differential diagnosis of demyelinating diseases, the neurotoxic effects of the drug should be well understood, and treatment should be initiated as soon as possible.

De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy.

DNM1L encodes dynamin-related protein 1 (DRP1), a multi-domain GTPase essential for mitochondrial and peroxisomal division. Autosomal dominant and recessive variants in DNM1L cause encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1), which presents as a complex and clinically heterogeneous neurological disorder of variable severity, often accompanied by seizures. Clinical features are diverse, and no clear phenotype-genotype correlations were drawn to date. DNM1L-related sensory neuropathy has recently been reported as a predominant feature in one case with a de novo variant in the GTPase domain. Herein we present a second case with DNM1L-related sensory neuropathy as the predominant underlying feature without motor neuron involvement, which resulted in severe muscular atrophy and generalized dystonia.

Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey.

AIM: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis. METHODS: The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed. RESULTS: Of the 34 cases identified, 31 were confirmed (91.2%). Eighteen patients (55.9%) were boys. The median patient age was 4 years (interquartile range 2.5-6.9 years). Most of the patients were admitted in 2018 (n = 27). A preceding history of a febrile illness was reported in all patients, with a median of 4 days (interquartile range 3-7 days) before symptom onset. Thirty-one patients had T2 hyperintensity on spinal MRI, and 18 patients had cerebrospinal fluid pleocytosis. The most common infectious agents were entero/rhinoviruses (n = 5) in respiratory specimens. All patients except one received immunotherapy either alone or in combination. Among 27 patients with follow-up data 24 had persistent weakness. Involvement of four limbs together with an abnormal brain MRI at onset were associated with a poor prognosis. CONCLUSION: The number of patients with acute flaccid myelitis increased since 2012, spiking with every 2-year interval, largely in the pediatric population. The median age decreases with every outbreak. Clinicians should be aware of the clinical picture for early collection of specimens and early start of rehabilitation programs. Further studies are needed to better characterize the etiology, pathogenesis, risk factors, and treatment of this rare condition.

Rotavirus encephalopathy with concomitant acute cerebellitis: report of a case and review of the literature.

Rotavirus is a leading cause of gastroenteritis in children under 5 years of age. It is known that neurological manifestations like seizures, encephalopathy and encephalitis can rarely be seen due to rotavirus infections. Cerebellar involvement is extremely rare. We present an uncommon neurological manifestation of rotavirus infection in a 4-year-old Turkish child who presented with hypotonia, reduced consciousness and mutism. Magnetic resonance imaging revealed diffusion abnormalities in the splenium of corpus callosum and nucleus dentatus bilaterally. She was diagnosed with rotavirus cerebellitis. She improved well with dexamethasone and intravenous immunoglobulin but still has dysarthria and poor fine motor coordination.

Changes of primary headache related white matter lesions in pediatric patients.

Bayram E, Yis U, Paketçi C, Okur D, Polat I, Çakmakci H, Hiz S, Anlar B. Changes of primary headache related white matter lesions in pediatric patients. Turk J Pediatr 2018; 60: 380-384. We aimed to describe the long-term prognosis of white matter lesions detected on magnetic resonance imaging in children with primary headache. Children who were admitted with the complaint of headache and had nonspecific white matter lesions on magnetic resonance imaging were included in the study. The clinical findings of the patients were reinvestigated using the same magnetic resonance imaging scanner and acquisition protocol after at least a two year period. Magnetic resonance imaging results of the patients were documented in detail. Findings of the baseline and follow-up studies were compared with each other by the same radiologist. Among the 11 patients, 8 ( 72.7%) were male and 3 (27.3%) were female. Mean age of patients at the time of second imaging was 12.9±2.3 years. Eight (72.7%) had migraine without aura, 1 (9.1%) had tension-type headache and 2 (18.2%) had migraine with aura. The mean clinical follow-up period of the patients was 4.31±1.31 years. All patients had low headache frequency on the last control visit when compared to the first clinical findings. The follow-up magnetic resonance imaging studies showed two newly developed white matter lesions in two patients who had migraine without aura and the white matter lesions disappeared in the patient who had tension-type headache, compared to the baseline neuroimaging. Findings of the baseline and long-term follow-up magnetic resonance imaging studies of the patients with primary headache showed no significant changes in terms of the location, size and laterality. Repeated neuro-imaging studies are not warranted in the absence of the progression in clinical findings.

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders.

Serum Irisin and Oxytocin Levels as Predictors of Metabolic Parameters in Obese Children.

OBJECTIVE: Irisin and oxytocin can affect energy homeostasis and it has been suggested that they may play an important role in reducing obesity and diabetes. In this study, we aimed to determine the relationship between metabolic parameters (including irisin and oxytocin levels) and anthropometric parameters in obese children. METHODS: Ninety obese children (mean age, 13.85±1.63 years) and 30 healthy controls (mean age, 14.32±1.58 years) were enrolled in this study. Anthropometric and laboratory parameters (glucose, insulin, lipid, oxytocin, and irisin levels) were analyzed. The serum irisin and oxytocin levels were measured by enzyme-linked immunosorbent assay. Bioelectrical impedance was used to determine body composition. RESULTS: Irisin level was higher in the patients than in the controls (p=0.018), and this higher irisin level was correlated with increased systolic blood pressure, body mass index, waist/hip ratio, fat percentage, fat mass, glucose level, insulin level, and homeostasis model assessment of insulin resistance. Serum oxytocin level was significantly decreased in obese children compared to the controls (p=0.049). Also, among the 60 obese patients, oxytocin level was significantly lower in patients with than in those without metabolic syndrome (8.65±2.69 vs. 10.87±5.93 ng/L, respectively), while irisin levels were comparable (p=0.049 and p=0.104, respectively). There were no statistically significant relationships between oxytocin or irisin levels and lipid levels (p>0.05). CONCLUSION: Obese children had significantly higher irisin levels than the healthy controls. Additionally, this study shows for the first time that oxytocin level is significantly lower in obese compared with non-obese children and also lower in obese children with metabolic syndrome compared to those without.