Neurocognitive effects and electrophysiological findings in ADHD and self-limiting centrotemporal spike wave epilepsy (SeLECTS) - A prospective tertiary care study.

OBJECTIVE: The study aimed to determine the prevalence of attention deficit hyperactivity disorder (ADHD) in patients with self-limiting epilepsy with centrotemporal spike wave (SeLECTS), as well as the electroclinical features associated with this comorbid condition and the neurocognitive effects using psychometric tests. Additionally, we analysed the electrophysiological findings and neurocognitive status of patients with ADHD to estimate the prevalence of epilepsy and neurocognitive effects in the ADHD population and evaluate their clinical features. METHOD: The study included patients diagnosed with SeLECT and ADHD who were matched for age and gender. Electrophysiological tests, psychometric tests, demographic and clinical characteristics of SeLECTS patients aged 7-13 years and ADHD patients of similar age were analysed. The study examined electrophysiological and psychometric tests, as well as demographic and clinical characteristics. Both groups underwent testing using the Wechsler Intelligence Scale for Children (WISC-R), Stroop Colour and Word Test (SCWT), and EEG (Electroencephalogram). The SeLECT group also underwent the Bender Visual-Motor Gestalt Test. RSULTS: No significant relationship was found between the SeLECT and ADHD groups in terms of age and gender. The rate of epileptiform discharge in EEG findings without a diagnosis of epilepsy was 5.6 % (n = 2) in the ADHD group. The rate of ADHD in the SeLECTS group was 28 % (n = 11). Although all subsections of the WISCR test were higher in the ADHD patient group than in the SeLECTS patient group, only verbal IQ and total IQ showed a significant difference. No significant differences were found between the completion times, error rates, and correction averages of the SCWT sections in both groups. There was no significant correlation found between the performance IQ, verbal IQ, and total intelligence scores in either the isolated SeLECTS patient group or the SeLECTS + ADHD patient group (p > 0.05). However, it is worth noting that verbal IQ was below normal in both groups and slightly lower in the SeLECT + ADHD group. Additionally, the mean SeWT completion time was significantly longer in the SeLECT + ADHD group than in the isolated SeLECT group. However, no significant difference was found in the Bender Gestalt Visual Motor Perception Test. In the psychometric analyses comparing the isolated SeLECTS, SeLECT + ADHD, and ADHD patient groups, the SCWT completion times were significantly longer in the SeLECT + ADHD group than in the other two groups. The verbal IQ score was significantly higher in the ADHD group than in the other two groups. CONCLUSION: In conclusion, although SeLECTS is commonly considered a benign form of epilepsy, our study found a high rate of comorbidity with ADHD. This condition has a negative impact on verbal intelligence and sustained attention, highlighting the importance of a complete neuropsychological evaluation at the stage of epilepsy diagnosis. It is crucial not to overlook the possibility of an ADHD diagnosis.

Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients.

BACKGROUND: Epilepsy is a neurological disease that is mostly caused by genetic factors. The genetic diagnosis of patients in a pediatric epilepsy cohort was provided. METHODS: After phenotypic characterization, a 48-gene Next Generation Sequencing panel was performed in 110 Turkish children with epilepsy. The variants were called and annotated using the QIAGEN Ingenuity® Variant Analysis software. RESULTS: Of those carrying pathogenic mutations, two patients had mutations in the SCN1A gene and two patients in the TSC2 gene; other patients had mutations in the SCN1B, GRIN2B, KCNQ2, PCDH19, CHRNA2, and MECP2 genes. In total, nine out of 10 patients had pathogenic variants that were not previously reported. CONCLUSIONS: The genotype-phenotype correlations of these variants were discussed by comparing the clinical findings with the literature.

Nutritional interventions improve quality of life of caregivers of children with neurodevelopmental disorders.

Introduction: Children with neurodevelopmental disorders are at high risk for malnutrition. We aimed to investigate the impact of nutritional interventions to children with neurodevelopmental disorders and the quality of life of caregivers.Materials/Method: This is a prospective interventional study of 91 children with neurodevelopmental disorders. The children were separated into two groups: the intervention group and control group. The intervention group was selected from among children who had not been evaluated for nutrition and feeding problems by a pediatric gastroenterologist or dietician for the past one year. Children in the intervention group were called for follow-up visits and their nutritional intervention and anthropometric measurements were initiated by a pediatric gastroenterologist and dietician, at one month, three months, six months, and one year. The WHOQoL-BREF quality of life scale was completed by the caregivers of the children at baseline and at one year.Results: The intervention group had increased malnutrition (p < 0.001) and gastrointestinal system pathologies such as dysphagia (p < 0.001), constipation (p = 0.02), gastroesophageal reflux (p = 0.03) at baseline. After the nutritional intervention, 77.7% of the intervention group gained weight and 55.5% reached the target weight. The quality of life scale scores at baseline were lower among caregivers of the intervention group; however, they reached those of the control group after the nutritional intervention.Conclusion: Close multidisciplinary nutrition monitoring enables children with neurodevelopmental disorders to thrive appropriately and improves the quality of life of caregivers.

Ambulatory blood pressure parameters in office normotensive obese and non-obese children: relationship with insulin resistance and atherosclerotic markers.

OBJECTIVES: To determine differences in ambulatory blood pressure (ABP) parameters between office normotensive obese and non-obese children and to evaluate correlations of ABP parameters with insulin resistance and the lipid profile. SUBJECTS AND METHODS: Thirty-eight obese [body mass index (BMI) above the 95th percentile] and 38 non-obese children aged 9-17 years were recruited. All subjects who were normotensive during office visits and who underwent 24-hour ABP monitoring were evaluated. Insulin resistance and the lipid profile were also evaluated. RESULTS: The mean daytime, night-time and 24-hour systolic blood pressure (SBP) and the daytime and 24-hour diastolic blood pressure (DBP) in normotensive obese children were significantly higher compared to the values in non-obese children (p < 0.05). There was no difference in the frequency of nocturnal non-dippers and nocturnal hypertension (night-time SBP at or above the 95th percentile) between the two groups (p > 0.05). Children with night-time SBP at or above the 95th percentile and non-dippers had higher atherosclerotic markers than children with night-time SBP below the 95th percentile and dippers (p < 0.05). In logistic regression analysis, the low-density lipoprotein cholesterol (LDL-C):high-density lipoprotein cholesterol (HDL-C) ratio and night-time SBP had significantly positive associations with being obese in adolescents (OR 6.54, 95% CI 1.15-37.07, p = 0.03, and OR 1.1, 95% CI 1.01-1.19, p = 0.02, respectively). CONCLUSION: Normotensive obese children had higher ABP parameters. A high LDL-C:HDL-C ratio and night-time SBP were associated with an increased risk of being obese. High LDL-C:HDL-C ratios and total cholesterol:HDL-C levels in children and adolescents may be risk factors for night-time hypertension.

Changing views of cerebral palsy over 35 years: the experience of a center.

In this study, it was aimed to evaluate the demographic and clinical characteristics of cerebral palsy (CP) cases over a 35-year period. Findings of 442 patients with CP followed from 1995 to 2006 (Group 2) were compared with 208 patients with CP followed between 1972 and 1994 (Group 1) in the same pediatric neurology division. Ratios of both prematurity (38% vs. 17.7%) and very low birth weight (VLBW) infants (13.8% vs. 1.5%) significantly increased in Group 2. There was also a four-fold increase in cesarean delivery in Group 2 (42.3% vs. 9.6%). A significant increase in the rate of early diagnosis during the first year was also found in this group (56.9% vs. 39.4%). The rate of spastic diparesis cases has significantly increased (33.7% vs. 7.7%), while the rate of spastic tetraparesis cases has significantly decreased (63.5% vs. 37.3%). It was seen that preventable risk factors continue today.

Two case reports and a literature review of typical GBS and rare GBS variants associated with COVID-19.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in late 2019, and is the infectious agent that caused the coronavirus disease 2019 (COVID-19) pandemic. Although respiratory and gastrointestinal manifestations of SARS-CoV-2 are well defined, the spectrum of neurological involvement is less defined. The classic type of Guillain-Barré syndrome (GBS) progresses over days to weeks and has a monophasic course. Areflexia/hyporeflexia and ascending and symmetrical paralysis are observed clinically in patients. It is an autoimmune process that typically leads to the destruction of myelin after infection. There have been numerous reports of adult patients with the coexistence of GBS disease and active COVID-19 illness, but this number is lacking for children. In this study, we present a literature review of the etiological correlation between SARS-CoV-2 and GBS and describe the cases of two pediatric patients with acute monophasic Guillain-Barré syndrome (GBS) during active COVID-19 infection.

Psychometric Properties of the Turkish Version of the Epilepsy Module of the KINDL Quality of Life Scale.

Introduction: This study aims to present the psychometric properties of the Turkish version of the KINDLE quality of life scale, epilepsy module. Method: The psychometric properties of the KINDL Epilepsy module were evaluated from the aspect of internal consistency, reliability, and construct validity on an inpatient sample of 159 Turkish children (mean age 10.84±2.77 years) who had epilepsy. Results: The KINDL Epilepsy module (36 items) showed acceptable αcoefficients ranging from 0.80 (social well-being) to 0.55 (treatment) for each domain. EFA suggested three sub-dimensions that we named as Physical, Mental and Social Well-being sub-dimensions. Root Mean Square Error of Approximation was found as 0.053, and Comparative Fit Index was 0.95. Good known groups results supported the construct validity of the instrument. Correlations between the income perception, family support and Duration of Epilepsy and the domains of its Epilepsy module were significantly high, indicating a satisfactory convergent validity. Conclusion: The Turkish version of the KINDL Epilepsy module showed module is a promising tool in this study. However, further research on the versions of the module in other languages is needed for its global use.

A transcranial magnetic stimulation study for the characterization of corticospinal pathway plasticity in children with neurological disorders.

We aimed to investigate cortical and radicular TMS-evoked motor evoked potentials (MEPs) in children with neurological disorders (n = 57, mean age: 5.45 years) and agematched healthy controls (n = 46). Four TMS parameters were analyzed: MEP amplitudes, the latencies of MEP, the latency jump (cortical MEP latency at rest - cortical active-MEP latency at with slightly contracted targeted muscle), and central motor conduction time. Children with neurological disorders were categorized according to the two major types of neuronal plasticity; excessive plasticity: 29 children with cerebral palsy and impaired plasticity: 28 children with neurodegenerative diseases, stroke, and central nervous system infections. The active-MEP abnormalities (absent and prolonged latencies) were correlated with the location of cortical involvement on MRI patterns. We obtained a significantly increased rate of abnormal cortical active-MEPs in children with impaired plasticity (21/28, 75%) compared with excessive plasticity (18/29, 62%). The rate of absent MEP response is three times more in children with impaired plasticity (43%) than in children with excessive plasticity (14%). A more reduced latency jump was measured in children with impaired plasticity compared to children with excessive plasticity. TMS-evoked active-MEPs and latency jumping are valuable parameters for characterizing neuronal plasticity in children with neurological disorders.

Vitamin A status of healthy children in Manisa, Turkey.

BACKGROUND: Vitamin A deficiency is a major public health nutrition problem in the developing world. Even subclinical Vitamin A deficiency is associated with increased childhood mortality. Severe maternal vitamin A deficiency may cause increased mortality in the first months of life. There have been a limited number of studies regarding vitamin A status in Turkey. The aim of this study was to assess vitamin A status of healthy children in Manisa, Turkey. METHODS: Vitamin A status of 100 healthy children aged 36-48 months is evaluated. The children were seen during routine examination. Serum retinol concentrations were measured by high-performance liquid chromatography. Duration of breast feeding, age solid foods introduced, use of supplementary vitamins, weight and height, and intake of specific groups of nutrients on a daily, weekly and monthly basis were collected from a questionnaire completed by the mothers. Height and weight z-scores were calculated according to national standards. Mothers of 20 of the 100 children were known to have normal serum and breast milk retinol concentrations. Children with normal serum retinol concentration were compared with the children with VAD. Student's t-test and Mann-Whitney test were used to compare independent variables. The Pearson correlation analysis test was used to test relation between numeric variables. RESULTS: Mean retinol concentration was 0.98 ± 0.32 µmol/L in the whole study group. Serum retinol concentrations were normal (>0.70 µmol/L) in 89% of the children. When children with normal serum retinol concentrations were compared with those with retinol concentrations lower than 0.70 µmol/L, there was no difference in terms of age, gender, weight and height at the time of study, z-scores, birth weight, birth length, duration of breast feeding, time to begin solid food, rate of supplementary vitamin use, and rate of infections (P > 0.05). There was not any relation between vitamin A concentrations and weight and height at the time of study, z-scores, birth weight, birth length, duration of breast feeding, time to begin solid food, vitamin use, and frequency of intake of specific groups of nutrients (P > 0.05). CONCLUSIONS: This study showed that VAD is a moderate health problem in Manisa.

A transcranial magnetic stimulation study for the investigation of corticospinal motor pathways in children with cerebral palsy.

The aim of this study is to perform transcranial magnetic stimulation (TMS)-based investigation of corticospinal motor pathways in children with cerebral palsy (CP) secondary to hypoxic-ischemic encephalopathy (HIE). TMS parameters including motor evoked potentials (MEPs) and central motor conduction time (CMCT) were recorded in 38 children with CP and 46 age-matched healthy controls. The z-score of MEPs were analyzed with respect to the types of MRI patterns of cortical involvement in children with CP. MEP latency values were correlated with the weight and height of children and to reflect the maturation of the corticospinal pathway. TMS evoked MEPs with prolonged onset latencies in 64% of children with CP while 10% of the CP group failed to elicit MEPs. Related with the MRI pattern, multicystic encephalomalacia (89%) was associated with the highest rates of abnormal cortical MEPs, as followed by periventricular leukomalacia (80%), basal ganglia involvement (66%) and focal cortical involvement (60%) patterns. Children with CP as compared with healthy controls had similar CMCT values on the upper and lower extremities in children with all cortical MR patterns. MEP abnormalities with TMS were consistent with the extent of motor cortex lesions on MRI patterns in CP children with HIE.

Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.

Mucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous mutations in the DDHD2 gene. Clinical features are progressive spasticity and weakness in the lower limbs and corpus callosum agenesis. We report on two siblings in a consanguineous family, presenting both the clinical and molecular diagnoses of MPSIIIB and SPG54 with novel mutations by using whole exome sequencing (WES). This interesting finding shows that we should be aware of the importance of using WES for diagnosing rare diseases in consanguineous families.

Levels of Melatonin in Continuous Spikes and Waves During Sleep.

Levels of melatonin have been reported before in children with epilepsy, but such has not been reported to date in those with continuous spikes and waves during sleep. The aim of the present study was to assess serum melatonin levels and melatonin circadian rhythm in patients with continuous spikes and waves during sleep and epilepsy. Serum melatonin was measured in 39 children stratified into 3 groups. Group 1 included 15 patients with continuous spikes and waves during sleep, group 2 included 12 epilepsy patients, and group 3 included 12 controls, respectively. Blood samples were taken from all participants at 1:00 am and 9:00 am and melatonin levels were measured using a quantitative enzyme-linked immunosorbent assay test. The 9:00 am melatonin levels of group 1 were significantly decreased and pair groups were compared. The Pa value (representing a comparison between groups 1 and 2) was .002, the Pb value (representing a comparison between groups 1 and 3) was .001, and the Pc value (representing a comparison between groups 2 and 3) was .86. These findings suggest that the 9:00 am melatonin levels were significantly decreased in the comparison of groups 2 and 3. Further detailed research is necessary to determine the factors leading to the rapid decline of morning melatonin levels of children with continuous spikes and waves during sleep.

Semiologic seizure classification: the effectiveness of a modular education program for health professionals in pediatrics.

We tested the effectiveness of a modular education program on Semiologic Seizure Classification (SSC) in helping health professionals in pediatrics correctly recognize seizures in childhood. The study samples included 20 residents, 20 nurses, and 10 EEG technicians working in pediatrics. The study was conducted in two steps. First, a modular education program comprising CD-ROMs including 58 video clips of epileptic seizures designed for the original SSC was developed. Second, each participant took a pretest by viewing the pretest CD-ROM, participated in the modular education program with a CD-ROM, and finally took a posttest with the posttest CD-ROM. The pretest scores were found to be low in each subgroup of the study population: the average scores were 8 for the residents (minimum 4-maximum 10), 2 for the nurses (min 0-max 4), and 2.5 for the EEG technicians (min 0-max 8). After participating in the modular education program, correct recognition of seizures increased in the posttest: the average scores were 15.5 for the residents (min 9-max 20), 15 for the nurses (min 13-max 20), and 13.5 for the EEG technicians (min 3-max 19). The increase in the scores in the subgroups and in all study groups in general was found to be statistically significant (P<0.05). The modular education program developed for SSC was found to be highly effective in teaching health professionals working in general pediatric clinics to correctly recognize seizure types.

The effect of depression on academic achievement in children with epilepsy.

In this cross-sectional study our aim was to evaluate the effect of depression on academic achievement in children with epilepsy and low school performance. Fifty-one children with epilepsy and low school performance were evaluated with the Children's Depression Inventory (CDI) to measure depressive symptoms. School performance was evaluated with Achenbach's Child Behavior Checklist (CBCL) and the Teacher Report Form (TRF). Children diagnosed with depressive spectrum disorders received medical therapy. All tests were administered in the first interview and repeated at the end of 6 months of therapy. Forty-three children completed the study. The patients were evaluated with DSM-IV diagnostic criteria. Accordingly, 9 (20.9%) children had Major Depressive Disorder (MDD) and 4 (9.3%) had Depressive Disorder, Not Otherwise Specified (DD-NOS). All children with MDD and DD-NOS received antidepressant medication, but only seven of them completed treatment. Posttreatment CDI scores were significantly lower, and TRF scores also improved. Pediatric neurologists should be aware of the possibility of depressive disorders in children with epilepsy, especially in those with low school performance.

Is Helicobacter pylori related to endothelial dysfunction during childhood?

BACKGROUND: Helicobacter pylori infection has been proposed to have a role in the development of atherosclerosis preceded by endothelial dysfunction. The aim of the present study was to determine if a relationship exists between H. pylori infection in childhood and endothelial dysfunction and level of high-sensitivity C-reactive protein (hsCRP). METHODS: Between October 2003 and November 2004, 28 subjects who were anti-H. pylori IgG-positive and 25 who were anti-H. pylori IgG-negative were included in the study. Mean ages of the H. pylori-positive and negative groups were not significantly different. Endothelial functions were evaluated on Doppler ultrasonography of the brachial artery. Percent ratio of the change in systolic diameter during hyperemic phase to the basal diameter was evaluated. Each subject's serum was tested for hsCRP, homocysteine and lipids. RESULTS: Percent ratio of the change in systolic diameters during hyperemic phase to the basal diameter was not significantly different between the H. pylori-negative and -positive groups (P > 0.29). Mean levels of hsCRP were also not significantly different (1.48 +/- 1.8 g/dL vs 2.35 +/- 3.33 g/dL; P > 0.24). Similarly, serum levels of lipids and homocysteine were not significantly different (P > 0.05 for all lipids). CONCLUSIONS: Non-invasive techniques used in the present study were not indicative of early findings of atherosclerosis in H. pylori infection during childhood. Further studies are required to evaluate the relationship between early endothelial dysfunction and H. pylori infection in children with cardiovascular risk factors.

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.

Arterial ischemic stroke in childhood: risk factors and outcome in old versus new era.

Risk factors of children with arterial ischemic stroke were retrospectively evaluated. The children were grouped according to values on developing diagnostic tools: 13 in the old era (1987-1994) and 18 in the new era (1995-2004). The old era battery included 5 tests: protein C, protein S, antithrombin, lupus anticoagulants, and anticardiolipin antibodies. The new era battery added 5 more tests: homocystine level, factor VIII level, mutations for factor V Leiden and prothrombin G20210A, and lipoprotein (a) level. At least 1 risk factor was found in 5 of 13 children (38.5%) in the old era and in 8 of 18 (44.4%) in the new era. The extended battery for prothrombotic disorders revealed 7 risk factors in 4 children (22.2%) in the new era, whereas the limited battery identified a single risk factor in 1 child (7.7%) in the old era. For the correct etiologic identification, prothrombotic risk factors should be extensively evaluated in patients with arterial ischemic stroke.

Miller Fisher syndrome: a case with pattern of pure sensory polyneuropathy concomitant with anti-GQ1B antibody.

Miller Fisher syndrome is characterized by the acute onset of ophthalmoplegia, ataxia, and areflexia. Anti-GQ1b antibodies are useful markers for the differential diagnosis of Miller Fisher syndrome. We describe the case of a seven-year-old male who presented with a four-day history of diplopia and ophthalmoplegia following a febrile flu-like illness with sore throat. On examination he was found to have ataxia, areflexia and ophthalmoplegia, and a diagnosis of Miller Fisher syndrome was made after the exclusion of other conditions and concomitant with electrophysiological findings on electromyography. Although this disorder has a rare incidence, it should still be considered in the differential diagnosis in our country.

Chronic inflammatory demyelinating polyradiculopathy: an atypical pediatric case complicated with phrenic nerve palsy.

An atypical form of chronic inflammatory demyelinating polyneuropathy (CIDP) complicated with phrenic nerve palsy is presented with clinical and electrophysiologic features. A seven-year-old girl had initial presentation mimicking Guillain-Barré syndrome based on electrophysiologic characteristics. Between 7-11 years of age, she had five recurrences of subacute onset of weakness which usually developed over at least 2-4 months and progressed to loss of ambulation and to respiratory insufficiency. Radiologic examinations revealed unilateral phrenic nerve palsy associated with CIDP. Our patient demonstrated the rare association of CIDP and phrenic nerve palsy, resulting in diaphragmatic paralysis and respiratory failure.

Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia.

Vigabatrin, a structural analogue of gamma-aminobutyric acid (GABA), is used for the treatment of generalized and partial seizures in infants. The drug inhibits the GABA transaminase and elevates the GABA concentration in the brain. Here we present the vigabatrin experience in two patients with early myoclonic encephalopathy owing to nonketotic hyperglycinemia (glycine encephalopathy). Both patients had early infantile seizures characterized by fragmentary myoclonic jerks associated with burst-suppression pattern on electroencephalography. Nonketotic hyperglycinemia was diagnosed with elevated cerebrospinal fluid and plasma glycine levels. The seizures were initially thought to be infantile spasms, and vigabatrin (50 mg /kg/day) was started for the treatment of seizures. Rapidly progressive deterioration was noticed after a few days. Acute encephalopathy associated with sleepiness and respiratory failure developed. Vigabatrin produced acute encephalopathy, which regressed in a few days after vigabatrin was stopped in the first patient. However, in the second case, despite the discontinuation of vigabatrin, there was no recovery of general conditions. Our observations in two cases indicate the risk of using vigabatrin in patients with nonketotic hyperglycinemia. The elevated GABA concentration in the brain can enhance the encephalopathy, together with the elevated levels of glycine. (J Child Neurol 2006;21:82-84).