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The terms developmental epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) designate a spectrum of conditions that are typified by different combinations of motor, cognitive, language, and behavioral regression linked to robust spike-and-wave activity during sleep. In this study, we aimed at describing the clinical and molecular findings in "(developmental) epileptic encephalopathy with spike-and-wave activation in sleep" (D)EE-SWAS) patients as well as at contributing to the genetic etiologic spectrum of (D)EE-SWAS. Single nucleotide polymorphism (SNP) array and whole-exome sequencing (WES) techniques were used to determine the underlying genetic etiologies. Of the 24 patients included in the study, 8 (33%) were female and 16 (67%) were male. The median age at onset of the first seizure was 4 years and the median age at diagnosis of (D)EE-SWAS was 5 years. Of the 24 cases included in the study, 13 were compatible with the clinical diagnosis of DEE-SWAS and 11 were compatible with the clinical diagnosis of EE-SWAS. Abnormal perinatal history was present in four cases (17%), and two cases (8%) had a family history of epilepsy. Approximately two-thirds (63%) of all patients had abnormalities detected on brain computerized tomography/magnetic resonance (CT/MR) imaging. After SNP array and WES analysis, the genetic etiology was revealed in 7 out of 24 (29%) cases. Three of the variants detected were novel (SLC12A5, DLG4, SLC9A6). This study revealed for the first time that Smith-Magenis syndrome, SCN8A-related DEE type 13 and SLC12A5 gene variation are involved in the genetic etiology of (D)EE-SWAS. (D)EE-SWAS is a genetically diverse disorder with underlying copy number variations and single-gene abnormalities. In the current investigation, rare novel variations in genes known to be related to (D)EE-SWAS and not previously reported genes to be related to (D)EE-SWAS were discovered, adding to the molecular genetic spectrum. Molecular etiology enables the patient and family to receive thorough and accurate genetic counseling as well as a personalized medicine approach.
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Sequenciamento do Exoma , Sono , Humanos , Masculino , Feminino , Criança , Turquia , Pré-Escolar , Sono/genética , Polimorfismo de Nucleotídeo Único , Eletroencefalografia , Espasmos Infantis/genética , Lactente , Estudos de Coortes , Epilepsia/genética , AdolescenteRESUMO
BACKGROUND: Epilepsy and sleep have a close, complex, and reciprocal relationship. Sleep may also be adversely affected by epilepsy and anti-seizure medication (ASM). This study sought to determine sleep-related problems before and after six months of treatment with ASMs follow-up in children with epilepsy, to reveal changes in sleep habits, and to determine the effect of ASMs on sleep in different types of epilepsy. METHODS: This is a prospective study that included 61 children, aged 4-18 years with newly diagnosed epilepsy, who regularly had follow-up checks and used ASM for six months, and completed the Children's Sleep Habits Questionnaire (CSHQ). Children's Sleep Habits Questionnaire was completed before and after six months of ASM, allowing for assessments based on treatment group and type of epilepsy. RESULTS: The mean ages of 61 children were 10.6 ± 3.9 years. The participants' post-treatment total scores on the CSHQ decreased by 2.9 ± 7.8 units on average compared to their pretreatment scores (p = 0.008; p < 0.01). In the levetiracetam group, post-treatment CSHQ subscale scores showed a mean decrease for bedtime resistance (p = 0.001), sleep duration (p = 0.005), sleep anxiety (p = 0.030), and total scores (p = 0.012) (p < 0.05). In the valproic acid group, post-treatment CSHQ subscale scores showed a mean decrease in sleep duration (p = 0.007) and a mean increase in daytime sleepiness (p = 0.03) (p < 0.05). CONCLUSION: Our study found that children diagnosed with epilepsy had significantly higher rates of pretreatment sleep problems, which significantly decreased in patients who regularly attended follow-up examinations and received treatment. Except for the daytime sleepiness factor, our study found that sleep-related problems improved with treatment. It was observed that the initiation of epilepsy treatment had a positive effect on the patient's sleep, regardless of the type of treatment or epilepsy.
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Distúrbios do Sono por Sonolência Excessiva , Epilepsia , Transtornos do Sono-Vigília , Humanos , Criança , Adolescente , Estudos Prospectivos , Epilepsia/complicações , Epilepsia/tratamento farmacológico , Sono , Inquéritos e Questionários , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/diagnósticoRESUMO
Charcot-Marie-Tooth (CMT) disease represents a distinct subgroup of inherited peripheral neuropathies with a significant prevalence throughout the world and manifests both phenotypic and genetic heterogeneity. Electrophysiological studies subclassify CMT mainly as demyelinating or axonal types. In this study, we investigated the molecular characteristics of a Turkish cohort of 23 probands out of 34 symptomatic demyelinating CMT individuals from January 2019 to December 2021. In order to identify the underlying genetic cause, we applied a rational algorithm: PMP22 gene was initially analyzed for duplication, if PMP22-duplication testing was negative, other most causative genes (GJB1, MPZ) and PMP22 were then sequenced and if no variant was detected at aforementioned tests, whole exome sequencing (WES) test was finally performed. A total of 17 patients (â 74%; n = 23) were found to harbor a disease-causing variant in demyelinating CMT-related genes and among the variants, PMP22-duplication was the most frequent (â 41%). CMT1, CMTX, and CMT4 subtypes were manifested in ten, five, and two individuals respectively. GJB1 and SBF2 genes were the only detected genes associated with the CMTs other than CMT1. We also reported totally five novel variants: c.379A > C (p.Ile127Leu) and c.548G > T (p.Arg183Leu) variants in GJB1, c.988G > T (p.Glu330Ter) variant in NEFL, c.765_770delCCCTAT (p.Pro256_Ile257del) and c.2552A > C (p.His851Pro) variants in SBF2. As the understanding of pathophysiology and molecular mechanisms of CMT continues to evolve rapidly, many therapeutic strategy options including promising small-molecular compounds, gene replacement therapy, or disease-modifying therapies will soon be implemented in the clinical setting.
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Doença de Charcot-Marie-Tooth , Axônios , Doença de Charcot-Marie-Tooth/genética , Humanos , Mutação , Proteína P0 da Mielina/genética , Proteínas/genéticaRESUMO
The biallelic variations of the LNPK gene are associated with the "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" phenotype [MIM:618090] in the Online Mendelian Inheritance In Men database, and so far, two families have been identified in the literature. A third family with novel clinical features, who bears a novel variant in LNPK (NM_030650.3: c.770delA, p.D257fs*31) is described in the present study. The coexistence of psychomotor regression and neurodegeneration in brain magnetic resonance imaging was found for the first time in the present study, thanks to the long-term follow-up data on the case, which contributed to the phenotypic and mutation spectrum by means of the novel variation.
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Encéfalo , Corpo Caloso , Atrofia/genética , Atrofia/patologia , Encéfalo/patologia , Corpo Caloso/patologia , Humanos , Mutação , FenótipoRESUMO
INTRODUCTION: Genetic epilepsy with febrile seizures plus (GEFS+) is an epilepsy syndrome with clinical heterogeneity that was first described in 1997. Central auditory processing (CAP) is defined as the neurophysiological process in decoding sound waves from the outer ear to the auditory cortex. The present study aimed to analyze CAP and phonological disorders in preschool-age children with GEFS+. MATERIAL AND METHOD: This is a prospective case-control study. Twenty-seven patients diagnosed with GEFS+ aged between 4â¯years and 6â¯years and 6â¯months and 31 healthy controls in the same age range were included in the study. Phonological sensitivity test (SAT) and auditory discrimination test (IAT) were applied to both groups, and the results of both groups were statistically compared. RESULTS: The SAT and IAT raw and Z scores of the subjects in the study group were found to be significantly higher than those of the control group (pâ¯=â¯0.001; pâ¯<â¯0.01). Electroencephalography (EEG) status of the patients or the duration of antiseizure medication use did not have a statistically significant effect on the outcome. CONCLUSION: Patients with GEFS+ have a significantly high impairment in both articulation and auditory discrimination of phonemes compared with the healthy population. Early diagnosis and early treatment of this condition can prevent potential literacy problems and the development of dyslexia in the future.
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Dislexia , Epilepsia , Convulsões Febris , Percepção Auditiva , Estudos de Casos e Controles , Criança , Pré-Escolar , Humanos , Convulsões Febris/complicações , Convulsões Febris/genéticaRESUMO
PURPOSE: Phenytoin is one of the most used antiepileptic drugs (AEDs), but it has serious potential side effects and drug interactions. Although studies have shown levetiracetam to have a much lower side-effect profile, its efficacy when compared with phenytoin is debatable. In our study, we aimed to determine the factors that cause seizure recurrence and to compare the efficacy of levetiracetam and phenytoin in the treatment of convulsive status epilepticus (CSE) and acute repetitive seizures (ARS). METHODS: In this study, 185 patients diagnosed with CSE or ARS and aged between 1 month and 18 years who received intravenous levetiracetam or phenytoin as a second-line AED were retrospectively evaluated. RESULTS: A total of 185 patients were included in the study, 85 (45.9%) girls and 100 (54.1%) boys.While 54.1% (n = 100) of the patients were given phenytoin, levetiracetam was administered to 45.9% (n = 85) of them. The rates of cessation of seizure and prevention of seizure recurrence for 24 h were 84% for phenytoin and 78.8% for levetiracetam, without a significant difference (p > 0.05). Having active seizures on admission to the emergency department and an age of < 36 months were significantly related to seizure recurrence (p < 0.01). CONCLUSIONS: Our results support that the intravenous administration of levetiracetam as the second-line treatment for CSE and ARS in children is as effective as the intravenous administration of phenytoin.
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Piracetam , Estado Epiléptico , Adolescente , Anticonvulsivantes/efeitos adversos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Infusões Intravenosas , Levetiracetam/uso terapêutico , Masculino , Fenitoína/efeitos adversos , Fenitoína/uso terapêutico , Piracetam/efeitos adversos , Piracetam/uso terapêutico , Estudos Retrospectivos , Convulsões/tratamento farmacológico , Convulsões/etiologia , Estado Epiléptico/tratamento farmacológicoRESUMO
AIM: Although chest computed tomography (CT) score has been well evaluated in adult coronavirus disease (COVID-19), its use in paediatric cases is insufficiently studied. Our aim is to evaluate the relationship of chest CT score with disease severity and laboratory parameters. METHODS: Seventy-six paediatric patients with confirmed COVID-19 and chest CT evaluation on admission have been included in this study. Chest CT score was calculated for each of the five lobes considering the extent of anatomical involvement, as follows: 0: 0%; 1: <5%; 2: 5%-25%; 3: 26%-50%; 4: 51%-75% and 5: >75%. The resulting total CT score was the sum of each individual lobar score; the range was between 0 and 25. RESULTS: Total chest CT score was found to be positively correlated with alanine aminotransferase and d-dimer, and negatively correlated with lymphocyte count. In receiver operating characteristic analysis, total chest CT score had area under the curve 0.99 (95% confidence interval, 0.98-1.00) at cut-off 2 with 95% sensitivity and 96% specificity for the severe disease. Furthermore, in-depth analysis of lobar CT scores showed a correlation between left upper lobe with lymphocyte count, left lower lobe with d-dimer, right middle and lower lobes with alanine aminotransferase and right upper lobe with leukocyte count. CONCLUSIONS: There is a significant relationship between chest CT score and COVID-19 severity and laboratory findings in children. This suggests that chest CT scores can be used to assess the severity of the disease and can play an important role in paediatric clinical practice.
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COVID-19 , SARS-CoV-2 , Alanina Transaminase , COVID-19/diagnóstico por imagem , Criança , Humanos , Pulmão , Estudos Retrospectivos , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X/métodosRESUMO
INTRODUCTION: Idiopathic/genetic generalized epilepsy (GGE) accounts for 15-20% of all epilepsy cases. Neuropsychiatric comorbidities and disorders, such as attention-deficit hyperactivity disorder (ADHD), academic failure, and poor social competence, are present at a higher rate in patients with epilepsy compared with the general population. In this study, we aimed to determine the frequency of neuropsychiatric comorbidities in GGE subgroups, and to reveal the risk factors in the patient group with neuropsychiatric comorbidities. MATERIAL AND METHOD: This hospital-based, cross-sectional study follows the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines. Patients with seizure-controlled GGE were invited to a semi-structured interview at the hospital. Variables [photosensitivity, valproic acid (VPA) resistance, timing of the neuropsychiatric comorbidities Attention deficit and hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), and low academic performance), seizure control, and timing of the antiepileptic treatment] were statistically analyzed and evaluated in terms of their association with GGE subgroups [Generalized tonic-clonic seizures alone (EGTGS), juvenile myoclonic epilepsy (JME), and juvenile absence epilepsy (JAE)], RESULTS: Total 101 patients with GGE were included in the study and the mean age was 13.94⯱â¯1.66â¯years. A total of 12.9% (nâ¯=â¯13) of the patients had EGTGS, 49.5% (nâ¯=â¯50) had JME, and 37.6% (nâ¯=â¯38) had JAE. VPA resistance, photosensitivity, and the presence of neuropsychiatric symptoms before the starting of epilepsy were found to be risk factors in the GGE group with neuropsychiatric comorbidities compared with the group without neuropsychiatric comorbidities (pâ¯<â¯0.001). The subgroups of GGE did not show any relationship with psychiatric disorders, including ADHD, ODD, and low academic performance (neuropsychiatric comorbidities) (pâ¯>â¯0.005). No correlation was found between seizure control and decline in neuropsychiatric symptoms (pâ¯>â¯0.05). CONCLUSION: In this study, the onset of psychiatric symptoms prior to the onset of epilepsy, photosensitivity, and VPA resistance were the most important factors affecting neuropsychiatric comorbidities. The JME, JAE, and EGTCS subgroups, early initiation of antiepileptic treatment, and seizure control were found to have no effect on poor psychosocial outcome and neuropsychiatric comorbidities.
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BACKGROUND: The high prevalence of sleep problems in children and long-term consequences point to the need for early effective interventions, but health-care providers have limited training in pediatric sleep medicine. The aims of this study were therefore to assess the effectiveness of a sleep health-care education program and to develop a Turkish acronym for brief sleep history taking for pediatric primary caregivers in the ambulatory setting. METHODS: This was a quasi-experimental study. Four centers were randomly selected from eight training and research hospitals as the intervention group. The control group was recruited during training in subjects other than sleep. Education was provided to the intervention group. Knowledge and attitudes were evaluated in the short and long term. RESULTS: The intervention and the control groups consisted of 132 and 78 pediatricians, respectively. The intervention group scored significantly higher both in the short and the long term. The Turkish acronym (UYKU) was reported to be easy to remember and effective in prompting the correct questions to ask about sleep issues. CONCLUSIONS: The Turkish acronym would be useful in the primary care setting to increase the frequency of screening of sleep problems in children. Although education significantly improved knowledge on sleep issues in children, the percentage of participants who lacked confidence in the management of sleep problems in children was still very high, even in the intervention group. We suggest that a broader educational program, carried out more than once, would be more beneficial.
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Competência Clínica/estatística & dados numéricos , Educação Médica Continuada/métodos , Anamnese/métodos , Pediatria/educação , Transtornos do Sono-Vigília/diagnóstico , Abreviaturas como Assunto , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Atenção Primária à Saúde/métodos , Transtornos do Sono-Vigília/terapia , TurquiaRESUMO
BACKGROUND: The aim of the study was to investigate the frequency of malnutrition in hospitalized children and compare national growth standards with World Health Organization (WHO) standards. METHODS: After obtaining height, weight, and mid-upper arm circumference values for 250 children aged 1 month to 5 years, nutrition status was assessed separately according to Neyzi and WHO standards. Weight-for-age z score (WAZ), weight-for-height z score (WHZ), height-for-age z score (HAZ), and mid-upper arm circumference z score (MUACz) were calculated based on age. Patients with WHZ < -2 were considered to have acute malnutrition, while those with HAZ < -2 were considered to have chronic malnutrition per WHO's definition. RESULTS: According to the WHO and Neyzi standards, the z scores were as follows: WAZ (-0.53 ± 1.54/-0.61 ± 1.52), HAZ (-0.42 ± 1.61/-0.45 ± 1.38), WHZ (-0.33 ± 1.26/none), MUACz (-0.58 ± 1.31/none). The difference between WAZ scores for the two standards was highly significant (P = 0.0001), whereas the difference between HAZ scores didn't reach statistical significance (P = 0.052). In our study when evaluated according to WHO standards, the prevalence of acute and chronic malnutrition was 9.6% and 13.6%, respectively. The prevalence of chronic malnutrition in those aged <2 years was higher than in the 2-5 years age group (16.8% and 4.5%, respectively; P = 0.012). CONCLUSION: There were highly significant differences in the assessment of malnutrition between the WHO and national Neyzi according to WAZ standards, contradicting the claim that WHO curves can be universally applicable. The high rates of acute and chronic malnutrition in our study indicate that malnutrition remains a significant nutrition problem in our country.
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Increased surface roughness and discoloration of the direct restorative materials used in pediatric patients affect the longevity of restorations and impair children's oral health. Many factors can alter these properties. One of these factors is the intake of dietary supplements. It is crucial to predict the properties of restorative materials when exposed to dietary supplements to maintain the dental care of children. Thus, this study aimed to investigate the effect of various syrup-formed dietary supplements on the average surface roughness and color stability of current restorative materials used in pediatric dentistry. Seven different restorative materials (conventional glass ionomer [Fuji IX GP], resin-modified glass ionomer, [Fuji II LC], zirconia-reinforced glass ionomer [Zirconomer Improved], polyacid-modified composite resin [Dyract®XTRA], bulk-fill glass hybrid restorative [Equia Forte HT Fill], conventional resin composite [Charisma Smart], and resin composite with reactive glass fillers [Cention N]) were tested. The specimens prepared from each type of restorative material were divided into five subgroups according to dietary supplements (Sambucol Kids, Resverol, Imunol, Umca, and Microfer). These specimens were immersed daily in supplement solution over a period of 28 days. Surface roughness and color difference measurements were performed at baseline and at the 7th and 28th days. The color difference and Ra values showed that there was an interaction among the type of restorative material, type of dietary supplement, and immersion time factors (p < 0.05). Whereas lower Ra values were found in the composite resin group, the highest Ra values were found in the conventional glass ionomer group. All supplements caused increasing color difference values, and Resverol and Umca showed higher discoloration values above the clinically acceptable threshold. The intake of dietary supplement type, the immersion time of the dietary supplement, and the restorative material type affected the surface roughness and color stability of the tested direct restorative materials. All of the experimental groups showed higher Ra values than clinically acceptable surface roughness values (0.2 µm). The color difference values also increased with the immersion time.
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BACKGROUND: Childhood obesity has become a major global health problem. Obesity is associated with major health problems, such as diabetes, hypertension, dyslipidemia, cardiovascular disease. Obesity is also considered a risk factor for Pseudotumor cerebri (PTC). The present study aimed to investigate the relationship between body mass index (BMI), and cerebrospinal fluid (CSF) pressure in patients with pseudotumor cerebri. METHODS: A total of 48 children diagnosed with PTC, who were aged < 18 years and followed up in the pediatric clinic were included in the retrospective study. National BMI percentile curves were used for reference. We investigated statistically the relationship between BMI, clinical and laboratory results, and CSF pressure in patients. RESULTS: Of total patients 27 were female (56.25%) and 21 were male (43.75%). With regard to the BMI percentile, 20 (41.67%) were overweight or obese. CSF pressure was higher in overweight and obese patients compared to children with BMI in normal ranges (p < 0.05). A statistically significant positive correlation was also observed between BMI and CSF pressure values and between monocyte and CSF values (p < 0.05). CONCLUSIONS: The results of the present study indicate a direct relationship between CSF pressure and BMI in children with PTC. Appropriate diet, exercise, and medical treatment in overweight and obese children can make a significant contribution to the treatment of PTC. Additionally, a significant correlation was observed between CSF pressure and monocyte levels.
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Índice de Massa Corporal , Pressão do Líquido Cefalorraquidiano , Obesidade Infantil , Pseudotumor Cerebral , Humanos , Pseudotumor Cerebral/fisiopatologia , Pseudotumor Cerebral/complicações , Masculino , Feminino , Criança , Estudos Retrospectivos , Pressão do Líquido Cefalorraquidiano/fisiologia , Adolescente , Obesidade Infantil/complicações , Fatores de Risco , Pré-EscolarRESUMO
BACKGROUND AND OBJECTIVE: To evaluate long-term posterior segment findings in children recovering from multisystemic inflammatory syndrome (MIS-C) associated with severe acute respiratory syndrome coronavirus 2. PATIENTS AND METHODS: Our study included 22 patients who were admitted to an intensive care unit with a diagnosis of MIS-C between November 2021 and March 2022, and 25 healthy controls. The study included pediatric patients who had an eye examination an average of 12.35 ± 2.18 months after recovery from MIS-C. Detailed eye examinations and measurements of all participants were obtained retrospectively from patient files. Posterior segment parameters were measured using swept-source optical coherence tomography (OCT) and OCT-angiography (OCT-A); these parameters included peripapillary retinal nerve fiber layer (pRNFL) thickness, central macular thickness (CMT), subfoveal choroidal thickness (SCT), macular vascular densities (VD), and foveal avascular zone (FAZ) area. RESULTS: Mean age was 9.7 ± 3.6 years in the MIS-C group and 10.6 ± 2.8 years in the healthy control group (P = 0.316). There were no statistically significant differences between the MIS-C group and the healthy control group in terms of pRNFL thickness, CMT, and SCT. However, in the MIS-C group, the macular superficial vascular plexus and deep vascular plexus showed significantly lower VD in the superior, inferior, nasal, and temporal quadrants compared to the healthy controls (P < 0.05 for all). A comparison of the superficial and deep FAZ area parameters of both groups showed no statistically significant difference (P > 0.05). CONCLUSIONS: We showed that patients who had recovered from MIS-C had retinal vascular damage at the long-term follow-up. Following up with these patients after recovery with OCT and OCT-A, which are noninvasive methods commonly used in the detailed evaluation of the posterior segment of the eye, could be beneficial for understanding the long-term effects of MIS-C on retinal microvasculature. [Ophthalmic Surg Lasers Imaging Retina 2024;55:XX-XX.].
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BACKGROUND: Beck-Fahrner syndrome is caused by homozygous or heterozygous mutations in TET3 on chromosome 2p13. The general characteristics of this syndrome include behavioral abnormalities such as autistic features, attention-deficit hyperactivity disorder, learning disabilities, and epilepsy. CASE PRESENTATION: Six years old male patient was found to have a de novo TET3 loss-of-function variant by whole-exome sequencing (WES) analysis and was diagnosed with electrical status epilepticus during slow-wave sleep (ESES) based on clinical and electroencephalogram (EEG) characteristics. The patient had a neurodevelopmental delay from the age of 3 months and started experiencing generalized tonic-clonic seizures and regression at the age of 5 years. EEG findings were consistent with ESES, and WES analysis revealed a novel heterozygous nonsense NM_001366022.1:c.1594C > T (p.Arg532*) variant in TET3. Valproic acid and immunotherapy were administered for the first 6 months, and clobazam was administered orally in addition to oral valproic acid therapy for the next 6 months. Clinical improvement was noted regardless of EEG improvement for the first 6 months. EEG improvement was achieved with clobazam. No regression was observed following the discontinuation of immunotherapy. CONCLUSION: Decreased TET3 enzyme activity may be one of the new genetic etiologies of ESES.
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Dioxigenases , Sono de Ondas Lentas , Estado Epiléptico , Humanos , Masculino , Lactente , Criança , Sono , Clobazam/uso terapêutico , Ácido Valproico/uso terapêutico , Eletroencefalografia , Estado Epiléptico/tratamento farmacológicoRESUMO
OBJECTIVES: Epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) or the newly named Epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) is a syndrome in which epileptiform abnormalities are associated with the progressive impairment of cognitive functions. This study aimed to evaluate the neurocognitive executive functions of patients at later ages and determine the long-term prognosis of the condition, as well as the factors affecting this. METHODS: This is a hospital-based cross-sectional study of 17 patients with a diagnosis of CSWS, and a minimum age of 7.5 years. The Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV) was used for neurocognitive assessment. The use of immunotherapy (intravenous immunoglobulin and/or steroid for at least 6 months) at the time of initial diagnosis, baseline activity and spike wave index (SWI) of the last wake and sleep EEG, cranial MRI findings, active epileptic seizures since the last examination, and WISC-IV parameters were statistically compared. The results of patients with genetic etiology determined by the whole exome sequencing (WES) method are also reported. RESULTS: A total of 17 patients were included in the study, with a mean age of 10.30 ± 3.15 years (range from 7.9 to 15.8 years). The mean full scale IQ score of the subjects was 61.41 ± 17.81 (range 39-91), classified as follows: 5.9% (n = 1), average; 23.5% (n = 4), low average; 5.9% (n = 1), very low; 35.3% (n = 6), extremely low (upper range); 29.4% (n = 5), extremely low (lower range) intelligence. Among the four domains of WISC-IV, the most affected index was the Working Memory Index (WMI). EEG parameters, cranial MRI findings and treatment with immunotherapy did not have a significant effect on neurocognitive outcomes. Thirteen patients (76%) were evaluated with WES for a genetic etiology. Pathogenic variants in 5 different genes (GRIN2A, SLC12A5, SCN1A, SCN8A, ADGRV1) associated with epilepsy were detected in 5/13 patients (38%). CONCLUSION: These results indicated that neurocognition is highly affected in the long term in CSWS.
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Epilepsia , Sono , Criança , Humanos , Adolescente , Estudos Transversais , Sono/fisiologia , Convulsões , Eletroencefalografia/métodosRESUMO
The purpose of the study is to explore the use of Calgary scoring (CS) and Modified Calgary scoring (MCS) in the differentiation of genetic generalized epilepsy and syncope in children. The study involved 117 patients aged < 18 years who presented to our hospital's pediatric neurology outpatient clinic with TLOC between June 2020 and June 2022. In addition to CS and MCS scoring, all patients were subjected to statistical analysis based on their age, sex, number of episodes and distribution during the day, duration of syncope, and family history. Seventy-one patients with syncope and 46 with epilepsy were included in the study. At a CS value > - 1, sensitivity was 86.9% and specificity 63.4%, while at an MCS value > - 1, sensitivity was 76.1% and specificity 71.8%. CS had less specificity and sensitivity in predicting epilepsy when focal epilepsies were excluded. Abnormal behavior noted by bystanders, including witnessed unresponsive, unusual posturing, or limb jerking? (Q5) emerged as the most important question for the detection of epilepsy. Compared with other syncope findings, loss of consciousness during prolonged sitting or standing (Q9) emerged as the most important for the detection of syncope.
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Epilepsias Parciais , Epilepsia Generalizada , Epilepsia , Humanos , Criança , Animais , Diagnóstico Diferencial , Síncope/diagnóstico , Síncope/genética , Epilepsia/diagnóstico , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/genética , Epilepsias Parciais/diagnóstico , AnurosRESUMO
BACKGROUND: This study aimed to determine the frequency of bloodstream and wound infections and their possible risk factors in hospitalized children with burn injury. METHODS: We performed this retrospective descriptive study from 2015 to 2021. The study subjects consisted of all the pediatric patients hospitalized in the burn unit, from whom microorganisms were isolated either from blood or wound culture samples. RESULTS: We detected a total of 142 microorganisms from 97 blood culture samples and 45 wound culture samples. Among the 115 patients, 44 (38.3%) were females and 71 (61.7%) were males, with a median age of 21 months (interquartile range: 14-39 months). Gram-positive bacteria were the most common causative agents of bloodstream infections in patients with burns (54.6%), followed by Gram-negative bacteria (32.9%) and fungi (12.3%). Gram-negative bacteria were the most common causative agent of wound infections (86.7%). Prolonged hospitalization positively correlated with the extent of the burn surface area (P: 0.031), degree of burn (P: 0.001), use of central venous catheter (P: 0.028), and intensive care unit stay (P: 0.044). Independent risk factors for Gram-negative bacteremia and Gram-negative wound infections were the extent of the burn surface area (P: 0.018), degree of burn (P: 0.024) and intensive care unit stay (P: 0.023). The independent risk factor for fungemia was prolonged hospitalization (P: 0.026). CONCLUSIONS: To reduce infections, minimizing invasive procedures using a multidisciplinary approach would be beneficial, especially in patients who have a large burn surface area and are expected to have a long hospital stay.
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Queimaduras , Infecção dos Ferimentos , Criança , Pré-Escolar , Humanos , Lactente , Estudos Retrospectivos , Queimaduras/complicaçõesRESUMO
OBJECTIVES: PYCR2 gene variants are extremely rare condition which is associated with hypomyelinating leukodystrophy type 10 with microcephaly (HLD10). The aim of the present study is to report the clinical findings of patients having novel PYCR2 gene variant that manifest Hereditary Spastic Paraplegia (HSP) is the only symptom without hypomyelinating leukodystrophy. This is the first study that report the PYCR2 gene variants as a cause of HSP in late childhood. We believe it can contribute to expanding the spectrum of the phenotypes associated with PYCR2. METHODS: It is a retrospective study. Of the patients with similar clinical features from two related families, "patient 1" was designated as the index case, and was analyzed using Whole Exome Squence analysis (WES). The detected variation was investigated in the index case's parents, relatives, and sibling with a similar phenotype. Clinical, brain magnetic resonance (MR) images and MR spectroscopic findings of the patients were reported. RESULTS: A novel homozygous missense (NM_013328: c.383T > C, p.V128A) variant in the PYCR2 gene is detected in 5 patient from 2 related families. All the patients were male, their ages ranges from 6 to 26 years (15.58 ± 8,33 yrs). Developmantal milestones were normal without dysmorphic features. 4 (%80) patients exhibit mild intention tremor started at the age of approximately 6 years of age. 4 (%80) patients had gait difficulty and progressive lower limb spasticity started at the age of 8-12 years. White matter myelination was normal in all patients. Glycine peakes were detected on the MR spectroscopy in all patients. CONCLUSION: Some variants of PYCR2 gene are responsible for causing clinical features of HSP without hypomyelinating leukodystrophy in the pediatric patients.
Assuntos
Espasticidade Muscular , Paraplegia Espástica Hereditária , Criança , Humanos , Masculino , Mutação/genética , Oxirredutases/genética , Linhagem , Fenótipo , Pirrolina Carboxilato Redutases/genética , Estudos Retrospectivos , Paraplegia Espástica Hereditária/genética , Adolescente , Adulto Jovem , AdultoRESUMO
INTRODUCTION: The aim of this study was to evaluate the demographic and clinical characteristics and treatment outcomes of children with Salmonella gastroenteritis. METHODOLOGY: We retrospectively reviewed the medical records of pediatric patients aged between 1 month and 18 years with the diagnosis of Salmonella gastroenteritis between May 2015 and December 2021. RESULTS: A total of 172 children diagnosed with Salmonella gastroenteritis, including 113 outpatients and 59 hospitalized children, were included in this study. There were 95 (55.2%) males and 77 (44.8%) females with a median age of 59.5 months (interquartile range [IQR]: 33.5-96 months, min-max: 1-205 months). The most common clinical symptoms were diarrhea (n = 166, 96.5%), fever (n = 113, 65.7%) and abdominal pain (n = 73, 42.4%). Bloody diarrhea was seen in 19.2% of patients. Fifty (29.1%) of the Salmonella species could not be typed. Serogroup D (n = 106, 61.6%) was the predominant serogroup isolated from stool cultures, followed by serogroup B (n = 16, 9.3%). 62.2% of the isolates were susceptible to ampicillin, 97.7% to ciprofloxacin, 98.8% to trimethoprim-sulfamethoxazole, and 98.8% to ceftriaxone. Fever, vomiting, and underlying disease occurred more frequently in hospitalized patients than in outpatients (p: 0.005, p: 0.000, p: 0.000, respectively). C-reactive protein value was found to be higher in hospitalized patients (p: 0.000). CONCLUSIONS: Salmonella should be considered as a causative agent in pediatric patients with abdominal pain, fever, and bloody-mucous diarrhea, and patients with severe clinical conditions should be hospitalized and antibiotic therapy initiated if indicated.
Assuntos
Gastroenterite , Intoxicação Alimentar por Salmonella , Feminino , Masculino , Humanos , Criança , Lactente , Pré-Escolar , Turquia/epidemiologia , Estudos Retrospectivos , Diarreia/epidemiologia , Febre , Dor Abdominal/epidemiologia , Gastroenterite/tratamento farmacológico , Gastroenterite/epidemiologiaRESUMO
Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with heterogeneity in genotype and phenotype. For this reason, it is important to determine the genetic causes and genotype-phenotype relationship in MCPH, which causes lifelong impairment. In this study, we aimed to evaluate the clinical, genetic, and brain imaging findings of cases diagnosed with MCPH. Methods: Electroencephalogram and brain magnetic resonance imaging were performed for all cases. We evaluated genetic results of the 39 families including cases with suspected MCPH diagnosis. Results: Genetic diagnosis related to MCPH was provided in 11/39 (28.2%) of these families including 13/41 cases (31.7%). Variants of the WDR62 gene were the most common (61.5%) cause, and variants of the ASPM gene were the second most common cause (38.5%). We have found 6 novel variants and 4 previously reported variants in ASPM and WDR62 genes. Main brain imaging findings in our cases were lissencephaly, polymicrogyria, schizencephaly, pachygyria, and cortical dysplasia. Genetic counseling in 2 families whose genetic diagnosis was determined prevented them from having another child with MCPH. Discussion/Conclusion: Detection and reporting of novel variants is an important step in eliminating this disorder by providing families with appropriate genetic counseling.