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Acute ischemic stroke is rare in children, but it is one of the important causes of neurological morbidity. The etiology of AIS in childhood includes cardiac pathologies, cerebral arteriopathies, hypercoagulation, chemicals, drugs, inflammatory and autoimmune causes. In this article, we present an infant who has a genetic predisposition to hypercoagulation and comes with AIS clinic when multifactorial risk factors are added. The diagnosis, the underlying etiology, the risk factors affecting the process, the treatment of acute phase, the secondary treatment and the associated preventive approach on prognosis were discussed. [ABSTRACT FROM AUTHOR]

Objective: Chronic disease is defined as" a condition caused by irreversible pathological changes that may lead to permanent disability and may require special education, long-term care, supervision and control for the rehabilitation of the patient". If the patient is the child who is the most valuable asset of the family, this situation is a source of real trauma for the entire family. Hence; this study aimed to demonstrate that parents of children with chronic neurological disease have higher depression and anxiety levels depending on the circumstances they are involved and draw attention to the necessity of psychological support for these families. Method: This study was conducted with the parents and relatives of the sick children who applied to the Department of Pediatric Neurology of Istanbul Medical Faculty and the parents and relatives of healthy children who applied to the family health center Şişli in Istanbul. Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI) and family interview form prepared by the researcher were used in this study. Informed consent was obtained from the participants and face to face interview technique was applied. The responses of the participants; were written down by the participant or researcher on the form and they were asked to mark the options of the questions within the scope of BDI and BAI. Results: In this survey any significant difference was not observed between the group of parents of children with (patient group: n=60) and without chronic neurological disease (control group: n=60) (t =p 1.273 p>0.05). Conclusion: Lack of any significant difference between anxiety and depression levels of the case and control groups, but still higher anxety and depression levels in both groups demonstrate that further and more sophisticated studşes should be performed on this issue. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study is to determine the effects of the socio-demographic characteristics of the children with cerebral palsy and their parents on parental behaviors, and attitudes. Method: Mothers of 50 children aged 1-6 years with cerebral palsy, whose treatments continued or to be started and mothers of 50 healthy children without epilepsy, neurological disability, and chronic disease were included in the study. Socio-demographic characteristics of each of these three groups were compared with the "chi square Test". "Mann-Whitney U Test" was used for the comparison of the data related to parental child-rearing attitudes. The Statistical Package of Social Sciences was used for the statistical analysis. Results: According to the findings obtained in our study; the "overprotective" dimension was not different in mothers in both CP groups. Apart from the "overprotective" dimension, "equality-sharing", "rejection of being a housewife", "pousal incompatibility" and "oppression-discipline" dimensions were not significantly different between the two groups. The reason for the low level of working mothers in CP groups is parallel to their education level, suggesting that mothers do not work in order to be more interested in their children. It is thought that there is a direct proportional relationship between chronic illness and protectionism of mothers not being happy at home and chores and afraid of harming their children. The results of the study point out that at two CP groups there were no difference between parental child rearing attitudes for all dimensions of the PARI. Conclusion: As a result of our study, while focusing on motor activities of children with CP in diagnosis and treatment, it suggests that accompanying emotional and behavioral problems are mostly secondary, and emphasizes the importance of psychological counseling service in ensuring the adaptation of the family and children to the disease and guiding the attitudes and behaviors of the parents towards their children. [ABSTRACT FROM AUTHOR]

Purpose: The main object of the present study is to assess neuromotor development of high-risk infants by using three tests, and to determine inter-test concordance and the feasibility of these tests. Materials and Methods: One-hundred and nine patients aged between 0 and 6 months and identified as "high-risk infant" according to the Kliegman's criteria were enrolled to the study. Three different tests were used to assess neuromotor development of the patients: Bayley scales of infant development-II (BSID-II), Alberta infant motor scale (AIMS), and Milani Comparetti Motor Development Screening Test (MCMDST). Results: Correlation analysis was performed between pure scores of BSID-II motor scale and total scores of AIMS. These two tests were highly correlated (r:0.92). Moderate concordance was found between BSID-II and AIMS (k:0.35). Slight concordance was found between BSID-II and MCMDST; and the concordance was slight again for AIMS and MCMDST (k:0.11 and k:0.16, respectively) too. Conclusion: AIMS has a high correlation and consistency with BSID-II and can be used with routine neurological examination as it is based on observations, has few items, and requires less time to complete. [ABSTRACT FROM AUTHOR]

Objective: We aimed to analyze the development of epilepsy in a patient group with periventricular leukomalacia followed at a tertiary pediatric neurology center. Patients and methods: The study included 108 children aged between 2 and 8 years with radiologically proven periventricular leukomalacia who had been regularly observed at the Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Neurology outpatient clinic between January 2006 and December 2011. Results: Neonatal seizures were reported in 22 patients (20.3%), 14 of whom developed epilepsy. A significant correlation was found between neonatal seizures and prematurity and newborn asphyxia (p = 0.013 and p = 0.010, respectively). Epilepsy developed in 35 patients (32.4%), history of neonatal seizures and more severe loss of white matter, periventricular hyperintensity and corpus callosum involvement were found to be correlated with epilepsy (p = 0.001, p = 0.004, p = 0.016, and p = 0.004, respectively). The most common seizure pattern observed was generalized tonic clonic seizures (n = 13) and complex partial seizures (n = 11). Those with focal EEG findings had a significantly better neurodevelopmental and cognitive level than those with multifocal/generalized EEG findings (p = 0.024). Seizures continued with varying frequency in 14 epileptic patients (40%) despite antiepileptic treatment. Conclusion: Almost a third of patients with periventricular leukomalacia develop epilepsy that can be intractable in substantial part. Neonatal seizures and severe MRI findings are important clues that can indicate the development of epilepsy in these patients. [ABSTRACT FROM AUTHOR]

Aim: To define clinical features of patients with alternating hemiplegia of childhood. Methods: We retrospectively reviewed the clinical presentation and course of the disease in patients diagnosed between January 2003 and December 2008 at the Pediatric Neurology Department of the Istanbul Medical Faculty. Results: The nine patients had a mean age of 6.6 months (2-15 months) at the onset of symptoms. Paroxysmal eye movements were the early symptom of five patients. All patients had recurrent alternating hemiplegic episodes and relief of symptoms while sleeping. Duration of events varied widely from few minutes to several days and was associated with slowly progressive neurological deterioration. Flunarizine might decrease frequency of events but is not effective to neurological deterioration. Amantadine as an alternative agent is used in add-on therapy, but epileptogenic side effect prevented the evaluation of long-term efficacy. Conclusion: Trials on new agents like amantadine are necessary for more effective control of the disease. [ABSTRACT FROM AUTHOR]

Floppiness in an infant may have a number of different etiologies from disorders of the brain to spinal cord lesions, neuropathies, neuromuscular junction disorders and myopathies.In this study we aimed to investigate the correlation of muscle ultrasonography (US) and electromyography (EMG) in the diagnosis of floppy infants.The study encompassed 41 floppy infants aged 2–24 months. The muscle US and EMG examinations were performed without awareness of the clinical diagnosis. The final diagnosis was established by molecular genetic tests or muscle/nerve biopsy. The neurogenic group consisted of 16 infants according to their US and EMG findings. Fifteen of them had spinal muscular atrophy proven by genetic analysis and one had polyneuropathy diagnosed by nerve biopsy. Six infants were in the myopathic group according to their muscle US and EMG results. All of them underwent muscle biopsy and microscopic examination revealed five congenital muscular dystrophy and one glycogen storage disease. In two infants the US and EMG data conflicted. Their biopsies were also insufficient for the diagnosis. Seventeen infants had normal US and EMG findings but pathologic cranial magnetic resonance imaging or metabolic/genetic tests. They were considered in the group of central hypotonia.Our results suggest a high concordance of US and EMG findings in the diagnostic work-up of neurogenic and myopathic disorders. [Copyright &y& Elsevier]

Introduction This study aimed to investigate selective muscle involvement by shear wave elastography (SWE) in patients with spinal muscular atrophy (SMA) types 2 and 3 and to compare SWE values with magnetic resonance imaging (MRI) in demonstrating muscle involvement. Methods Seventeen patients with SMA types 2 and3 were included in the study. SWE was used to evaluate stiffness of the upper and lower extremities and paraspinal muscles. Involvement of the paraspinal muscles was evaluated using 1.5-T MRI. Results Among the upper extremity muscles, SWE values were the highest for the triceps brachii; however, no significant difference was noted (p = 0.23). In post hoc analysis, a significant difference was observed between triceps brachii and biceps brachii (p = 0.003). Patients with a longer disease duration have the highest SWE values for the triceps brachii (r = 0.67, p = 0.003). Among the lower extremity muscles, SWE values for the iliopsoas were significantly higher than the gluteus maximus (p < 0.001). A positive correlation was found between SWE values and MRI scores of paraspinal muscles (r = 0.49, p = 0.045; r = 0.67, p = 0.003). Conclusion This is the first study to report muscle involvement assessed by SWE in patients with SMA types 2 and 3. Our findings are similar to the presence of selective muscle involvement demonstrated in previous studies, and also SWE and MRI values were similar. SWE is an alternative noninvasive practical method that can be used to demonstrate muscle involvement in patients with SMA, to understand the pathogenesis of segmental involvement, and to guide future treatments or to monitor the effectiveness of existing new treatment options. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to retrospectively evaluate pediatric Guillain-Barré syndrome cases in a tertiary center in Istanbul, Turkey. Materials and Methods: The data of 40 patients with Guillain-Barré syndrome who had been admitted to the Department of Pediatrics at the Istanbul University Medical Faculty between 2005 and 2011 were collected. Mann-Whitney U, Kruskal-Wallis, chi-square, and Fisher's exact tests were used for statistical analysis. Results: Mean patient age was 5.4 ± 3.0 years; 20 out of 40 patients (50%) were female and 20 (50%) were male. Preceding infection was detected in 32 cases (80%). Six patients had speech impairment. Out of eight patients with respiratory distress (20%), five required respiratory support (12.5%) of which three of them had speech impairment as well. According to nerve conduction studies, 21 patients (52.5%) had acute inflammatory demyelinating polyradiculoneuropathy, 14 (35%) had acute motor axonal neuropathy, and five (12.5%) had acute motor-sensory axonal neuropathy. Thirty-three patients (82.5%) received intravenous immunglobulin, 3 (7.5%) underwent plasmapheresis and 4 (10%) received both. Time until recovery (P = 0.022) and time until aided (P = 0.036) and unaided (P = 0.027) walking were longer in patients with acute gastrointestinal infection than in those with upper respiratory tract infection (P < 0.05). Time until response to treatment (P = 0.001), time until aided (P = 0.001) and unaided (P = 0.002) walking, and time until complete recovery (P = 0.002) were longer in acute motor axonal neuropathy cases as compared to acute inflammatory demyelinating polyradiculoneuropathy cases. Conclusion: Recovery was longer with acute gastrointestinal infection and acute motor axonal neuropathy. Speech impairment could be a clinical clue for the need of mechanical ventilation. [ABSTRACT FROM AUTHOR]

Aim: Oral motor dysfunction is a common issue in children with cerebral palsy (CP). Drooling, difficulties with sucking, swallowing, and chewing are some of the problems often seen. In this study, we aimed to research the effect of oral motor therapy on pediatric CP patients with feeding problems. Materials and Methods: Included in this single centered, randomized, prospective study were 81 children aged 12-42 months who had been diagnosed with CP, had oral motor dysfunction and were observed at the Pediatric Neurology outpatient clinic of the Children's Health and Diseases Department, Istanbul Medical Faculty, Istanbul University. Patients were randomized into two groups: The training group and the control group. One patient from the training group dropped out of the study because of not participating regularly. Following initial evaluation of all patients by a blinded physiotherapist and pedagogue, patients in the training group participated in 1 h oral motor training sessions with a different physiotherapist once a week for 6 months. All patients kept on routine physiotherapy by their own physiotherapists. Oral motor assessment form, functional feeding assessment (FFA) subscale of the multidisciplinary feeding profile (MFP) and the Bayley scales of infant development (BSID.II) were used to evaluate oral motor function, swallowing, chewing, the gag reflex, the asymmetrical tonic neck reflex, tongue, jaw, and mouth function, severity of drooling, aspiration, choking, independent feeding and tolerated food texture during the initial examination and 6 months later. Results: When the initial and post.therapy FFA and BSID.II scores received by patients in the training and the study group were compared, the training group showed a statistically significant improvement (P < 0.05). Conclusion: Oral motor therapy has a beneficial effect on feeding problems in children with CP. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the thyroid function alterations in a group of epileptic children taking antiepileptic drugs (AEDs). Patients demographic data and the free throxine (fT4) and thyroid-stimulating hormone (TSH) levels at the beginning of the treatment and at the third, sixth and ninth months of AED treatment were recorded retrospectively. A total of 106 children, 59 males and 47 females, were enrolled in the study. Mean patient age was 3.7 years, ranging between 3 months and 14 years. In total, 54%% of patients were on valproic acid (VPA), 16%% phenobarbital (PB), 14%% were on carbamazepine (CBZ), 6%% were on oxcarbazepine (OXC), 5%% were on levetiracetam, and 5%% were on topiramate therapy. There were no significant differences in average fT4 values between the drug groups. But the mean fT4 levels of the patients on VPA therapy showed a clear decrease within the observation period. No significant difference in average TSH values between the groups was detected in the beginning and in the third and sixth month. However, in the ninth month, a significant increase in TSH values was found in the VPA group ( p == 0.007). In the patients taking VPA, average TSH values rose progressively while staying within normal limits. During follow-up, thyroid dysfunction were found in 21 patients (19.6%%). A statistically significant relationship was found between severe electroencephalography (EEG) findings and thyroid dysfunction ( p == 0.041). It was concluded that epileptic children with severe EEG findings and using VPA could have thyroid dysfunction. These patients should be followed up closely by thyroid function tests during treatment. [ABSTRACT FROM AUTHOR]

In this case we report on an adolescent male with new onset weakness of the low extremities after heavy load lifting. Spinal magnetic resonance imaging (MRI) demonstrated cerebrospinal fluid (CSF) leakage in the lumbar and thoracal region in the T2 sequence. Orthostatic headache was the main symptom in the following period. After bed rest and fluid replacement, the patient's symptoms completely recovered. [ABSTRACT FROM AUTHOR]

Purpose: The aim is to investigate the health-related quality of life (HRQOL) in children with myelomeningocele (MMC), compare the results with those of healthy children, and determine the factors related to HRQOL. Methods: Fifty children with MMC with a mean age of 8.96 ± 2.57 and 50 healthy children with a mean age of 9.50 ± 2.42 were included in the study. The demographic information form and the CHQ-PF-50 (Child Health Questionnaire Parent form 50) were completed to determine the quality of life (QOL) for the children. Ambulation levels of children with MMC and disease-specific findings were recorded. The HRQOL scores of children with MMC were compared with healthy children and assessed according to lesion levels and ambulation status. Results: The CHQ-PF-50 scores of healthy and MMC children had no significant difference in the sub-dimensions of health change (p > 0.05), but the mean QOL score of children with MMC was significantly lower in all other sub-dimensions (p < 0.05). In addition, QOL scores according to lesion levels in children with MMC were significantly different between the three groups (p < 0.05). The QOL scores were the highest in the sacral group and the lowest in the thoracic-high lumbar group. The QOL for non-ambulatory children was significantly lower than for ambulatory children with MMC (p < 0.05). Conclusions: The present study confirms that children with MMC have diminished HRQOL and non-ambulatory and children with high lesion levels are affected the most. Our result suggests that focusing on the activities that will enable children to acquire the ability to walk can positively affect the HRQOL. [ABSTRACT FROM AUTHOR]

To identify the frequency of epilepsy and whether the association of epilepsy with clinical and neuroimaging findings in children with presumed perinatal arterial ischemic stroke (PPAIS). We performed a retrospective analysis of 37 children with PPAIS followed-up at a tertiary referral center between January 1, 2000, and October 31, 2016. Clinical data including demographic features, age at onset of symptoms and seizures, initial clinical presentation, epilepsy features, used antiepileptic drugs, and thrombophilia screening results were abstracted from medical records. Brain magnetic resonance imaging scans were assessed for infarct laterality, location and affected brain regions. The median age of the patients was 12 years (range 2–17.9 years) at last assessment. The initial symptom of PPAIS was early hand preference in 33 children (89%) and seizure in 4 children (11%). A total of 20 children (54%) developed epilepsy at a median age of 0.9 years. There were two peaks of epilepsy onset in infancy and adolescence. Fifteen children (41%) had focal epilepsy and 5 children (14%) had epileptic spasms. Twelve out of 20 children (60%) with epilepsy had drug resistant epilepsy. Cortical involvement was a statistically significant predictor of epilepsy (p = 0.021, relative risk 4.4, 95% confidence interval 0.7–27.7). More than half of the children with PPAIS suffered from epilepsy during childhood, of whom developed drug resistant epilepsy in majority. Children with cortical lesion may have a higher risk to develop epilepsy. [ABSTRACT FROM AUTHOR]

Benign childhood epilepsy with centrotemporal spikes (BECTS), one of the most common idiopathic epilepsy syndromes in children, has been associated with neuropsychological problems. The objective of this study was to investigate the frequency of symptoms related to comorbid neurodevelopmental disorders, the autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in children with typical BECTS, and to identify corresponding risk factors. Children and adolescents with typical BECTS aged 6–16 years were included in the study period from January 1, 2017, to December 31, 2017. Children with atypical presentations of BECTS, other neurological disorders, and preexisting neuropsychiatric disorders were excluded. The ASD and ADHD were assessed by the Social Communication Questionnaire (SCQ) and the Turgay Diagnostic and Statistical Manual of Mental Disorders – 4th Edition – Disruptive Behavior Disorders Rating Scale (T-DSM-IV-S), respectively. Patients' scores were compared with those of healthy subjects. Correlation analyses were performed to evaluate the association between the age at seizure onset, the total number of seizures and the SCQ and T-DSM-IV-S scores. Fifty-eight children with BECTS and 60 healthy children participated in the study. The total SCQ score, the SCQ reciprocal social interaction score, and the SCQ communication score significantly differed between children with BECTS and the control group (p = 0.001 , p < 0.001, p = 0.001, respectively). The total ADHD score was significantly different between patients and controls (p < 0.001). A significant difference was observed between patients and controls in terms of the T-DSM-IV-S hyperactivity–impulsivity score and the T-DSM-IV-S inattention score (p = 0.012, p < 0.001, respectively). The age at seizure onset was significantly correlated with the total SCQ score (p = 0.03). The Spearman's correlation coefficient was 0.352 for the total SCQ score, indicating a positive association between the age at seizure onset and the total SCQ score. Children with typical BECTS may have an increased risk of suffering from symptoms of ASD and ADHD. Children with late onset of seizures may be more likely to develop neuropsychological disturbances regarding ASD and ADHD. • Children with typical BECTS may have an increased risk of suffering from neuropsychological disturbances. • Children with late onset of seizures may develop autism spectrum disorder and attention deficit and hyperactivity disorder. • All children with BECTS should be screened for accompanying neurodevelopmental disorders. [ABSTRACT FROM AUTHOR]

Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with Dravet syndrome. We evaluated the clinical characteristics of patients with Dravet syndrome and their response to stiripentol. We retrospectively collected the data of 21 patients (11 females; mean age, 8.2 years, range: 5.4-15 years) with Dravet syndrome who were treated with stiripentol in our outpatient clinic between June 2016 and June 2017. Patients with seizure reduction ≥50% were considered responders. Most of our patients had severe (47%) or moderate (33%) cognitive disabilities, although 14% had mild cognitive disability. There was a significant difference in both status epilepticus and age between the groups with normal/mild versus severe/moderate neurocognitive prognoses. Of the patients, 85.7% were using stiripentol. The mean duration of stiripentol use was 41.2 months (range: 24-64 months). In 12 patients (57%), the seizure frequency decreased by more than 50%, and 2 of them were seizure-free. Status epilepticus was not recorded after stiripentol treatment in 8 of 11 patients with status epilepticus. Despite the small sample size, our results suggest that stiripentol has a favorable efficacy. In addition, considering the absence of status epilepticus after treatment and the negative effects of status epilepticus on cognitive development, early treatment should be initiated in SD patients, for whom disease control is difficult. [ABSTRACT FROM AUTHOR]

Background Levetiracetam, a widely used antiepileptic drug in children, has been associated with psychosocial and behavioral problems, which are also influenced by epilepsy variables, including duration or seizure frequency. Purpose The objective of this study is to investigate the frequency and timing of treatment-emergent psychosocial and behavioral problems in children receiving levetiracetam, irrespective of seizure variables which are possible confounders. Methods A prospective, case–control study with a 3-month follow-up was conducted. Consecutive children aged 6 to 16 years with new-onset partial seizures were included in case of starting treatment with either levetiracetam or valproic acid. Psychosocial and behavioral functioning were assessed using a set of standardized questionnaires including Strengths and Difficulties Questionnaire (SDQ) and Children's Depression Inventory (CDI) at baseline, 1 and 3-month follow-up. Patients' baseline scores were compared to healthy subjects. The difference in the follow-up SDQ and CDI scores was evaluated in patients receiving levetiracetam and valproic acid. Results A total of 101 participants were analyzed; 32 patients in levetiracetam group, 19 patients in valproic acid group and 50 healthy controls. Baseline SDQ and CDI scores were not statistically different between patients and healthy subjects ( p > 0.05). No statistically significant difference was observed in CDI, total and subscale SDQ scores between patients receiving levetiracetam or valproic acid during the study period ( p > 0.05). A girl aged 15 years receiving levetiracetam had a CDI score of 18 without suicidal ideation at baseline. She developed suicidal ideation and depression, which resolved after switching of levetiracetam to valproic acid, at the 1-month follow-up. No other psychiatric or behavioral side-effects were observed in other patients. Conclusion Psychosocial and behavioral side-effects of levetiracetam treatment are not frequent and they don't emerge in most of children at lower doses. At this dose, and after 3 months, using these specific instruments, we did not observe any difference between the valproic acid and levetiracetam treatment groups. [ABSTRACT FROM AUTHOR]

Background Psychosocial and behavioral problems have been reported in children with benign epilepsy with centrotemporal spikes (BECTS). Distinctive features of typical BECTS associated with cognitive and behavioral problems have not clearly been defined. Purpose We aimed to identify psychosocial and behavioral functioning and their relationship to seizure timing in BECTS. Methods Consecutive patients with BECTS were recruited from the pediatric neurology outpatient clinic between May 2015 and May 2016. The patients were divided into two subgroups in according to seizure timing; group 1 consisted of patients with seizures only in the morning short before awakening, and group 2 consisted of patients with seizure shortly after falling asleep or in both time periods. Neuropsychological and behavioral evaluation in patients and healthy controls were examined using the Wechsler Intelligence Scale for Children-Revised test and the Turkish version of Strengths and Difficulties Questionnaire (SDQ). Results The participants comprised 46 children with BECTS and 49 healthy controls aged 7–16 years. There was no significant difference between group 1, group 2, and control group regarding intelligence quantity in full-scale or verbal and performance subscales. Behavioral scores for overall stress significantly differed between group 2 and controls on the SDQ test, while group 1 and control group had no difference on the SDQ scores. Conclusion Patients with BECTS who have seizure shortly after falling asleep may have a tendency towards behavior difficulties. [ABSTRACT FROM AUTHOR]

Objectives To determine the incidence and clinical relevance of neuronal autoantibodies in children with demyelinating syndromes. Methods We conducted a prospective study including 31 consecutive children with demyelinating syndromes. Four patients with N-Methyl- D -aspartate receptor (NMDAR) encephalitis, 32 patients with Guillain-Barre syndrome, 13 children with benign childhood epilepsy, and 28 healthy children were used as controls. Prior to initiating immunomodulatory therapy, serum samples were tested for antibodies against NMDAR, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) 1, AMPAR2, leucine-rich glioma-activated protein 1, contactin-associated protein 2, gamma-aminobutyric acid B receptors, paraneoplastic ma antigen 2 (PNMA2/Ta), Yo, Ri, Hu, CV2, amphiphysin, and aquaporin-4 by indirect immunofluorescence assays. Results Three anti-neuronal antibodies were detected; NMDAR antibody in one with multiple sclerosis, PNMA2/Ta antibody in one with multiple sclerosis, and Yo antibody in one with clinically isolated syndrome. The positivity rate of neuronal autoantibodies in demyelinating syndrome was 10%. All seropositive patients were found to be negative for tumor screening. None of these patients exhibited symptoms of encephalitis. Conclusion Children with demyelinating syndromes without symptoms of encephalitis can be positive for anti-neuronal antibodies. [ABSTRACT FROM AUTHOR]

BackgroundRufinamide is a novel antiepileptic drug used as adjunctive therapy in patients with Lennox-Gastaut syndrome and provides seizure control especially in tonic and atonic seizures. Rufinamide is expected to be effective in intractable epilepsy when atonic and tonic seizures exist. However, rufinamide induced seizure aggravation has been reported in a few patients, which was not associated with a specific type of seizure. CaseA 12-year-old boy with intractable epilepsy had tonic and atonic seizures despite treatment with valproic acid (3000mg/day), levetiracetam (3000mg/day) and clobazam (40mg/day). Rufinamide was administered as adjuvant therapy. After 2weeks on rufinamide, he experienced atonic seizure worsening, and the frequency of epileptic discharges increased. The deterioration in seizure frequency and epileptiform discharges resolved when rufinamide was discontinued. Conclusion Rufinamide may aggravate atonic seizures in patients with intractable epilepsy. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to examine cases of obstetric brachial plexus palsy (OBPP) treated over 20 years at a single tertiary center. Material and Method: We retrospectively reviewed 777 cases of OBPP who were observed at the Pediatric Neurology Department at Istanbul Medical Faculty between March 1989 and December 2010. The patients were evaluated in terms of demographic characteristics, treatment methods, surgical approaches, complications and functional levels according to Narakas Classification Scale. Results: Out of a total of 777 OBPP patients, 393 were female and 384 were male. The mean birth weight was 3968.9 g. Three of the patients were siblings. OBPP was bilateral In 3 patients; right sided in 463 patients and left sided in 311 patients. In terms of concomitant conditions, 82 patients had torticollis, 62 had Horner's syndrome, 47 had broken clavicle, 3 had broken humerus, 3 had cerebral palsy and 1 had facial paralysis. According to the Narakas classification, 430 patients (55%) were evaluated as stage 1 OBPP, 219 (28.5%) were evaluated as stage 2, 66 (8.5%) were evaluated as stage 3 and 62 (8%) were evaluated as stage 4. One third of the patients (%33) underwent Vojta and neurodevelopmental therapy in addition to routine physiotherapy. Complete recovery was observed in 439 (%56) of all patients, in 66% of the patients with stage 1 OBPP, in 56% of the patients with stage 2 OBPP, in 35% of the patients with stage 3 OBPP and in 18% of the patients with stage 4 OBPP. Botulinum Toxin Type A was applied in 97 cases; 30 patients underwent primary nerve surgery and 94 underwent multiple surgical procedures (25 of them required a second surgery and 15 required a third surgery). Various joint contractures were seen in 200 patients. Conclusions: Despite physiotherapy, Botulinum Toxin Type A application and surgical intervention, one out of three patients had difficulty using their arm and developed contractures and disabilities that affected their every day life. In conclusion, OBPP continues to be a severe problem leading to functional impairment and disability. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to examine cases of obstetric brachial plexus palsy (OBPP) treated over 20 years at a single tertiary center. Material and Method: We retrospectively reviewed 777 cases of OBPP who were observed at the Pediatric Neurology Department at Istanbul Medical Faculty between March 1989 and December 2010. The patients were evaluated in terms of demographic characteristics, treatment methods, surgical approaches, complications and functional levels according to Narakas Classification Scale. Results: Out of a total of 777 OBPP patients, 393 were female and 384 were male. The mean birth weight was 3968.9 g. Three of the patients were siblings. OBPP was bilateral In 3 patients; right sided in 463 patients and left sided in 311 patients. In terms of concomitant conditions, 82 patients had torticollis, 62 had Horner's syndrome, 47 had broken clavicle, 3 had broken humerus, 3 had cerebral palsy and 1 had facial paralysis. According to the Narakas classification, 430 patients (55%) were evaluated as stage 1 OBPP, 219 (28.5%) were evaluated as stage 2, 66 (8.5%) were evaluated as stage 3 and 62 (8%) were evaluated as stage 4. One third of the patients (%33) underwent Vojta and neurodevelopmental therapy in addition to routine physiotherapy. Complete recovery was observed in 439 (%56) of all patients, in 66% of the patients with stage 1 OBPP, in 56% of the patients with stage 2 OBPP, in 35% of the patients with stage 3 OBPP and in 18% of the patients with stage 4 OBPP. Botulinum Toxin Type A was applied in 97 cases; 30 patients underwent primary nerve surgery and 94 underwent multiple surgical procedures (25 of them required a second surgery and 15 required a third surgery). Various joint contractures were seen in 200 patients. Conclusions: Despite physiotherapy, Botulinum Toxin Type A application and surgical intervention, one out of three patients had difficulty using their arm and developed contractures and disabilities that affected their every day life. In conclusion, OBPP continues to be a severe problem leading to functional impairment and disability. [ABSTRACT FROM AUTHOR]

Abstract: This study evaluated etiologic and risk factors affecting long-term prognoses of neurologic outcomes in newborns with neonatal seizures. We enrolled patients at chronologic ages of 23-44 months, referred to the Department of Pediatric Neurology, Istanbul Medical Faculty, from January 1, 2007-December 31, 2009, after manifesting seizures in their first postnatal 28 days. Of 112 newborns, 41 were female, 71 were male, 33 were preterm, and 79 were full-term. Perinatal asphyxia (28.6%) and intracranial hemorrhage (17%) were the most common causes of neonatal seizures. Cerebral palsy developed in 27.6% of patients during follow-up. The incidence of epilepsy was 35.7%. Almost 50% of patients manifested developmental delay in one or more areas. Global developmental delay was the most common (50.8%) neurologic disorder. The correlation between gestational age or birth weight and adverse outcomes was nonsignificant. Etiology, Apgar score, need for resuscitation at birth, background electroencephalogram, neonatal status epilepticus, cranial imaging findings, type/duration of antiepileptic treatment, and response to acute treatment were all strong prognostic factors in neurologic outcomes. Neonatal seizures pose a threat of neurologic sequelae for preterm and full-term infants. Although the number of recognized etiologic factors in neonatal seizures has increased because of improvements in neonatology and diagnostic methods, perinatal asphyxia remains the most common factor. [Copyright &y& Elsevier]

The aim of this study was to demonstrate demographics of 39 consecutive Spinal Muscular Atrophy (SMA) type 1 patients diagnosed genetically in a tertiary center between June 2006 and June 2009. There was history of consanguineous marriage in 27 (69%) patients. The average patient lifespan was 251 days (30-726 days). The average patient age at diagnosis was 129 days (33-297 days). A statistically significant correlation was found between the age at diagnosis and the lifespan ( p = 0.00). No significant correlation was found between the time spent in intensive care and the lifespan ( p = 0.43). Routine physical therapy was found to have no significant impact on the lifespan average ( p = 0.17). The cause of death in all of our patients was respiratory issues. Genetic counseling was given to 35 families. A second child with SMA was born in three out of the 14 families who declined prenatal diagnosis. Conclusion: A national program is needed in Turkey for SMA prevention and creation of expert teams for the management of these patients. [ABSTRACT FROM AUTHOR]

Purpose: Mutations of the α-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. Materials and Methods: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. Results: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. Conclusions: Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients. [ABSTRACT FROM AUTHOR]

Aim: There is a close association between early-onset and severe epilepsies. The aim was to examine autistic features using Autism Behaviour Checklist (ABC) in West syndrome. Material and Method: Details of 267 infants with WS were recorded and 90 cases were followed with ABC. Data were analyzed by SPSS 12.0 for Windows program. All data were signified as median ± standard deviation, standard error and %. Student's t-distribution was used for constant variables and chi-square was used for qualitative variants in analyzing data. The study protocol was approved by the Ethics Committee of Istanbul University (number: 2007/1289). Results: Mean age of 90 cases were 56.2±38 months, onset of seizure was before the age of 6 months in 80% cases. The rate of mortality was 16.1% and mental retardation 86%. Seventeen cases (18.9%) who had total score of 67 or above from ABC was considered to indicate 'high probability'. If 14 cases who had 54-67 score were added, ratio would be found 34.5%. Symptomatic group ratio was 94.1%. Conclusions: We suggested that West syndrome is frequently associated with autistic features. So cases with WS must be checked for autistic disorders at every visits. [ABSTRACT FROM AUTHOR]

Aim: There is a close association between early-onset and severe epilepsies. The aim was to examine autistic features using Autism Behaviour Checklist (ABC) in West syndrome. Material and Method: Details of 267 infants with WS were recorded and 90 cases were followed with ABC. Data were analyzed by SPSS 12.0 for Windows program. All data were signified as median ± standard deviation, standard error and %. Student's t-distribution was used for constant variables and chi-square was used for qualitative variants in analyzing data. The study protocol was approved by the Ethics Committee of Istanbul University (number: 2007/1289). Results: Mean age of 90 cases were 56.2±38 months, onset of seizure was before the age of 6 months in 80% cases. The rate of mortality was 16.1% and mental retardation 86%. Seventeen cases (18.9%) who had total score of 67 or above from ABC was considered to indicate 'high probability'. If 14 cases who had 54-67 score were added, ratio would be found 34.5%. Symptomatic group ratio was 94.1%. Conclusions: We suggested that West syndrome is frequently associated with autistic features. So cases with WS must be checked for autistic disorders at every visits. [ABSTRACT FROM AUTHOR]

• Childhood epilepsy with centrotemporal spikes (CECTS) is associated with cognitive, behavioral, and language problems. • The relationship between epilepsy and eating disorders has not been investigated in childhood. • We did not find any eating disorders in children with CECST. Psychosocial and behavioral disorders have been reported in childhood epilepsy with centrotemporal spikes (CECTS). We aimed to identify the symptoms of eating disorders in CECTS. Patients with CECTS were recruited from the pediatric neurology outpatient clinic between September 2019 and July 2020. The Children's Eating Behaviour Questionnaire (CEBQ) was administered to 39 patients and 31 controls. Patients' scores were compared with those of healthy subjects. There was no significant difference between the CEBQ of patients with CECTS and the control group (p > 0.05). There was no significant difference between the BMI of the patients with CECTS and the control group. In the patient group with CECTS, no significant difference was found in terms of CEBQ according to the antiepileptic drug used and EEG findings (p > 0.05). No difference was found in the eating habits of patients with CECTS compared with the healthy control group. [ABSTRACT FROM AUTHOR]

This prospective study aimed to evaluate long-term neurodevelopmental outcomes and risk factors of the previously reported cohort, at their school age. We included neonates whose seizures were directly observed by the child neurologist or neonatologist based on clinical observations. They were assessed for cognitive and neurological outcomes at the age of 9–11 years. The test battery included a neurological examination, the Wechsler Intelligence Scale for Children—Revised (WISC-R) test, and patients with the diagnosis of cerebral palsy (CP) were graded according to the Gross Motor Function Classification System (GMFCS). The primary outcome of this study was to determine risk factors for the long-term prognosis of neonatal seizures. For the long-term follow-up, 97 out of 112 patients of the initial cohort were available (86.6%). We found that 40 patients (41%) have the normal prognosis, 22 patients (22.7%) have the diagnosis of CP, and 30 patients (30.9%) were diagnosed as having epilepsy. Twelve out of 22 patients with CP had the diagnosis of epilepsy. The WISC-R full-scale IQ scores were < 55 points in 27 patients (27.8%) and were > 85 points in 40 patients (41.2%). According to GMFCS, 10 patients were classified as levels 1–2, and 12 patients were classified as levels 3–5. In multivariate regression analyses, 5-min APGAR score < 6 was found to be an independent risk factor for CP, and 5-min APGAR score < 6 and neonatal status epilepticus were independent risk factors for epilepsy. This prospective cohort study reveals that abnormal school age outcome after neonatal seizures are significantly related to 5-min APGAR score < 6 and neonatal status epilepticus. • Neonatal status epilepticus is significantly related to epilepsy in patients who are in school age. • Perinatal asphyxia was the major risk factor for cerebral palsy. • Bayley-3 is a good predictor for the verbal and performance scores of WISC-R test in school age. [ABSTRACT FROM AUTHOR]