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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]

Byline: Muhammet. Varkal, Tu?çe. Uzunhan, Nur. Ayd?nl?, Bar??. Ekici, Mine. Çal??kan, Meral. Özmen Objectives: This study aims to retrospectively evaluate pediatric Guillain-Barré syndrome cases in a tertiary center in Istanbul, [...]

Background and objectives. This study was conducted to determine the differences in clinical and radiological features at the first demyelinating event in children with clinically isolated syndrome (CIS) and multiple sclerosis (MS). Methods. This was a single center retrospective cohort study of the children with CIS followed-up at Istanbul University Faculty of Medicine, Department of Pediatric Neurology, between 2010 and 2018. Children with CIS who were assessed at 3, 6, 12 and 24 months following their first identified demyelinating event were included. Demographic data, mode of presentation and the presence of the oligoclonal band in the cerebrospinal fluid (CSF) were abstracted from the medical records. Magnetic resonance imaging of the brain and spinal cord was analyzed for the location, number, size and gadolinium enhancement of the lesions. Results. A total of 51 patients' data was assessed, 38 patients at a mean age of 12.3 years were enrolled in the study. Twenty-seven children (71%) evolved into clinically definite MS after a mean follow-up of 11 months. Older age at first demyelinating event and the presence of the oligoclonal band in CSF were tended to be more common in patients with MS than patients with CIS (p <0.05). The increased number of T2-hyperintense lesion and the presence of the lesion in periventricular, infratentorial and corpus callosum were associated with a tendency for development of MS (p <0.05). Conclusion. Older age at first demyelinating event, the presence of the oligoclonal band in CSF, the number and localization of T2-hyperintense lesion were associated with a tendency for development of MS. [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]

Lymphomas are solid tumors characterized by the malignant proliferation of lymphoid cells. Neurologic signs encountered in patients with Hodgkin's lymphoma can be due to the direct spread of tumor to the nervous system, secondary to chemotherapy or radiation, secondary to tumor mass compression, infectious causes and paraneoplastic syndromes. Paraneoplastic neurologic syndromes are rarely encountered in patients with Hodgkin's lymphoma and non-Hodgkin's lymphoma. Except for paraneoplastic cerebellar degeneration in Hodgkin's lymphoma and dermato/ polymyositis in both Hodgkin's lymphoma and non-Hodgkin's lymphoma, other paraneoplastic syndromes are uncommon and have only been reported as isolated case reports or short series. Here, we present a patient with Hodgkin's lymphoma with symptoms of bilateral lower extremity weakness and loss of sensation before the start of therapy, who was eventually diagnosed as having motor and sensory axonal neuropathy. [ABSTRACT FROM AUTHOR]

Rufinamide has been used as a new antiepileptic drug in the treatment of drug-resistant epilepsy, in recent years. The objective of this study was to evaluate the reliability of rufinamide and its impact on seizure frequency in patients diagnosed with drug-resistant epilepsy, where seizures could not be controlled with 'classical' antiepileptic drugs. We retrospectively reviewed the data of epileptic patients who were followed up between January 2004 and December 2014 in the Pediatric Neurology Department. Patients who were diagnosed with 'drug resistant epilepsy' and treated with rufinamide were evaluated. Decrease in seizure frequency and drug side effects were assessed as parameters. A total of 38 patients (14 girls, 24 boys) with a mean age of 8.5 (range, 3.5-17) years were included in the study. The mean follow-up duration was 25.5 (23-29.5) months, while the mean maximal dose of rufinamide was 32.5 (28-42) mg/kg/day. Response to treatment was assessed by the reduction in frequency of seizures. The decrease was <50% (essentially unresponsive to treatment) in 20 patients and 50-99% in 8 patients. Ten patients (26.3%) remained seizure-free. The response rate for tonic seizures was 50%. In drop/attacks seizures, this ratio was found as 73%, which was quite high. Patients with myoclonic and tonic-clonic seizures did not significantly benefit from rufinamide. The rate of patients with Lennox-Gestaut syndrome (LGS) who responded very well (reduction in seizure frequency >50%) was 55.5%. In the LGS group, patients with drop/attacks showed the best response to treatment. Rufinamide was not effective in two patients diagnosed with Dravet syndrome. Rufinamide can be safely used in pediatric patients who use multiple antiepileptic drugs and are unresponsive to the treatment. It was seen to be effective especially in patients diagnosed with LGS and drop/attacks types of seizures. [ABSTRACT FROM AUTHOR]

Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid 2-hydroxylase (FA2H) gene in different loci are responsible for phenotypic variability. We aimed to define the phenotype of SPG35 linked to a novel homozygous mutation c.160_169dup (p.Asp57Glyfs*48) in the FA2H gene, and compared with the clinical characteristics and neuroimaging findings of the patients with mutation in the FA2H gene. We describe a 5-year-old boy presenting with spastic paraplegia. He developed a rapid progressive spastic paraplegia and loss of ambulation at an early age, despite the absence of accompanying seizure, neuropathy, cognitive impairment, speech disturbance, and optic atrophy. Neuroimaging revealed white matter changes without brain iron accumulation. A duplication variation; leading to a truncated protein c.160_169dup in the FA2H gene was found on the homozygous state. A homozygous mutation c.160_169dup in the FA2H gene, which resulted in SPG35 phenotype, may present with rapid progressive spastic paraplegia at an early age. [ABSTRACT FROM AUTHOR]

This prospective single-blinded study was performed to evaluate general movements (GMs) in group of high-risk, low-birth-weight and preterm infants and to compare results with neurologic examination. All infants' neurologic examinations, Gross Motor Function Measurement (GMFM) and Bayley-III Scale were performed at the corrected age of 12 months. A total of 22 infants were included. Eight infants (group-1) (mean: 31.6±3.29 weeks, range: 25-36 weeks) had normal GMs in all recordings and were ultimately evaluated as "normal"; 12 (group-2) (mean: 31.6±3.29 weeks, range:2 5-35 weeks) had abnormal GMs during writhing movements period but had normal GMs in subsequent recordings and were evaluated as "normal"; and 2 infants (group-3) (mean:29.5±7.78 weeks, range:24-35 weeks) with consistent abnormal GMs who were evaluated as "abnormal." Complete agreement (kappa=1) was found between GMs and neurologic examination and significant agreement between GMs and cranial ultrasonography (kappa=0.76). When results of GMFM and Bayley-III were compared; statistically significant differences were found between group-1 and group-2 in "standing" parameter of GMFM (p<0.05) and "cognitive" parameter of Bayley-III (p<0.05). GMs assessment can help determine neurologic disorders in high-risk infant populations as an adjunct to other diagnostic techniques. [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]

Abstract: The purpose of this study was to evaluate positron emission tomography (PET) findings in patients diagnosed with infantile spasms and autism. This study includes 90 patients who were diagnosed with infantile spasms at the Department of Pediatric Neurology in the Istanbul University Medical Faculty between 1995 and 2007. Of the 90 patients, 15 patients who were diagnosed with autism using the Autism Behaviour Checklist and Childhood Autism Rating Scale and a control group of nine patients without autism but with infantile spasms underwent PET examination. Mean patient age (± standard error, SE) varied between 3years and 16years (7.8±4years), while the mean follow-up time (±SE) varied between 2years and 16years (average: 7.1±4years). Autism was present in 11 patients with symptomatic spasms and in four patients with cryptogenic spasms (p =0.009). On the PET scans of the 15 patients with autism, 13 (86.7%) had significantly decreased metabolic activity in the temporal lobe (p <0.001), nine (60%) had significantly decreased activity in the frontal lobe (p =0.004), and seven (46.7%) had significantly decreased activity in the parietal lobe (p =0.022). In our opinion, hypometabolism in the frontal and parietal lobes, in addition to that previously reported in the temporal lobe, plays a role in the development of autism in patients with infantile spasms. [Copyright &y& Elsevier]

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]

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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]

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]

The article describes the case of a 5-month old male patient admitted with global developmental delay. Topics covered include a diagnosis of Cri-du-chat syndrome suggested by the patient's syndromic face and MRI findings and confirmed when karyotype analysis showed a deletion in the short arm of chromosome 5, hypoplasia of the brainstem as an important radiological feature of Cri-du-chat syndrome and the role of pontine and brainstem hypoplasia on MRI on the correct diagnosis of the syndrome.

A letter to the editor is presented which is concerned with the case study of a six month old boy who was diagnosed with reversible temporal lobe edema and Menkes disease.

A letter to the editor is presented which is concerned with a case study of a 10 month old boy who was referred to medical professionals for hoarseness and joint contractures and received a diagnosis of Farber disease.

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]

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]

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]

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]

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]

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]

Kabuki syndrome is a rare dysmorphic disorder characterized by peculiar facial appearance, developmental delay, skeletal abnormalities, mental retardation, and dermatoglyphic abnormalities. Neurologic anomalies are frequently observed. This report presents a 2-year-old male with Kabuki syndrome who had a quadrigeminal cistern arachnoid cyst: the second case of such an association to be reported in the literature. [Copyright &y& Elsevier]

Humans' voice offers the widest variety of motor phenomena of any human activity. However, its clinical evaluation in people with movement disorders such as Parkinson's disease (PD) lags behind current knowledge on advanced analytical automatic speech processing methodology. Here, we use deep learning-based speech processing to differentially analyze voice recordings in 14 people with PD before and after dopaminergic medication using personalized Convolutional Recurrent Neural Networks (p-CRNN) and Phone Attribute Codebooks (PAC). p-CRNN yields an accuracy of 82.35% in the binary classification of ON and OFF motor states at a sensitivity/specificity of 0.86/0.78. The PAC-based approach's accuracy was slightly lower with 73.08% at a sensitivity/specificity of 0.69/0.77, but this method offers easier interpretation and understanding of the computational biomarkers. Both p-CRNN and PAC provide a differentiated view and novel insights into the distinctive components of the speech of persons with PD. Both methods detect voice qualities that are amenable to dopaminergic treatment, including active phonetic and prosodic features. Our findings may pave the way for quantitative measurements of speech in persons with PD., Competing Interests: MMÇ was employed by the company xMint. MC was employed by the company Logitech. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Jain, Abedinpour, Polat, Çalışkan, Asaei, Pfister, Fietzek and Cernak.)