34^th Conference on Clinical Neuroscience and Neurogenetics February 24-25, 2023 Tokyo, Japan

Biography:

Dr. Romario M. Ramos is a neurologist and psychiatrist. He graduated with a degree in Bachelor of Science in Psychology (Cum Laude) and in Medicine from the University of Santo Tomas (UST). He completed his residency training in Neurology and Psychiatry from the UST Hospital Department of Neurology and Psychiatry. He is Head of Section of Neurology at the MMGHMCOM, a member of the Oriental Mindoro Medical Society, a fellow of  the Philippine Neurological Association (PNA), Cluster Head of Mindoro PNA Southern Luzon Chapter and a member of PNA Advocacy Committee. His research interests include stroke, digital and mental health.

Abstract:

A diagnositic and a therapeutic dilemma arise when radiologic findings point to several medical conditions each with a different approach to management. We present a 61-year-old male admitted due to decreased sensorium, hyperglycemia, seizures and right-sided hemiparesis. A computed axial tomography (CT) scan of the brain showed a hyperdense focus in the left caudate and lentiform nucleus suggestive of diabetic striatopathy (DS). The patient was mananged as a case of acute ischemic stroke and was given an antithrombotic drug among other medications due to the radiologic features that point more toward DS, in spite the absence of hemiballismus-hemichorea typical in this disorder, rather than as a hemorrhagic stroke. The patient’s symptoms improved including his blood sugar levels. A repeat cranial CT scan done after 3 days showed an interval decrease in the density of the lesion. DS is considered uncommon and the absence of hyperkinetic movements typical of DS as seen in this patient makes it challenging to the physician in terms of treatment especially in the acute setting. Recognizing the possibility of a purely radiologic DS diagnosis as well as the association of DS with other comorbidities such as stroke and seizures are future directions we can take to fully understand this rare condition.

Biography:

Huan-Ling Yuan is a Ph.D. student at The Hong Kong Polytechnic University. Her research topic is “Auditory sensitivity processing in individuals with autism spectrum disorder: A psychophysiological study”. My research goals are to explore the characteristics of auditory sensitivity from different perspectives, provide evidence and ideas for effective interventions that are beneficial to the development of children with autism, and stimulate the development of more equipment and instruments.

Abstract:

Background:

Auditory hypersensitivity is common among children with Autism Spectral Disorders (ASD). Nevertheless, there have been inconsistent findings on its measurement and homogeneity. The negative emotions and disruptive behaviors due to this sound oversensitivity affect these children’s daily lives. Previous studies in auditory hypersensitivity reported inconsistent characteristics and patterns of symptoms by questionnaires.

Research purpose:

This study aimed to use both self-perceived like-dislike measure and electrophysiology to characterize auditory hypersensitivity by pure tone sounds.

Method：

Fifty children with ASD were screened by auditory profile showing comparable positive hypersensitivity symptoms. The control group was 32 age-matched typically developed (TD) children without the symptoms. Auditory hypersensitivity assigned like-dislike ratings to 36 pure tone sounds in different magnitudes and frequencies. In the next step, the participants then passively heard the sounds, and their cortical auditory evoked potential (CAEP) was captured by electroencephalogram. Their levels of intelligence, emotion, auditory filtering ability, and autistic traits were also measured.

Result:

The ASD participants formed two clusters based on their like-dislike ratings, i.e., the more-disliking (ASD-MDL, n=34) versus more-liking groups (ASD-ML, n=16) by model-based cluster analyses. Significant between-group CAEP amplitude differences were found in the P1, N1, and P2, and latency differences in the P2. The CAEP differences further confirmed ASD subgroup memberships. The ASD-MDL showed significantly higher non-verbal intelligence and lower arousal level than the ASD-ML.

Finding：

Our findings revealed consistent and different patterns of auditory hypersensitivity among the ASD participants, suggestive of diverse underlying neural dysfunctions.

Future studies should aim to gain better understanding of the neural mechanisms behind auditory hypersensitivity and investigate differences in hearing novel versus environmental sounds in ASD individuals. Researchers should also design clinical test with a sub-type differentiation, and explore the effective interventions associated with the auditory hypersensitivity.

Biography:

Dr Boulenouar Mesraoua is Consultant Neurologist at Hamad Medical Corporation, Neuroscience Department ,and also Associate Professor of Clinical Neurology/Epilepsy at Weill Cornell Medical College Qatar; He is the Director of the Comprehensive Epilepsy Program and also the Director of the Neurology Fellowship Program at HMC ; Dr Mesraoua is the author and co-author of many peer reviewed publications in reputed epilepsy journals ,and editor of one book on status epilepticus and eight book chapters in the field of Epilepsy and Clinical Neurology Neurology

Abstract:

Major disruption in the delivery of healthcare services can occur in exceptional situations such as natural disasters, conflicts, periods of severe economic hardship, and epidemics. These disruptions typically affect to the greatest extent the most vulnerable segments of the population, including people with epilepsy. Inability to access healthcare services can lead to failure to undergo necessary diagnostic investigations, or to receive needed therapeutic interventions, including epilepsy surgery. Stress and other factors associated with the nature or the cause of the disruption can adversely affect seizure control status, or precipitate the occurrence of psychiatric disorders and other comorbid conditions. Failure to access antiseizure medications is a common occurrence in these situations and can result in loss of seizure control, withdrawal seizures, and status epilepticus. In this article, we provide examples of recent disruptions in healthcare and their implications for people with epilepsy. We discuss the consequences of natural disasters, conflicts, economic sanctions, and focus in greater detail on lessons learnt during the COVID-19 pandemic. We also discuss possible mitigation procedures, focusing in particular on the application of telemedicine to epilepsy care. Finally, we underline the need for governments, healthcare authorities, and international organizations to improve their preparedness to deal with exceptional situations that may arise in the future.

Biography:

Dr Boulenouar Mesraoua is Consultant Neurologist at Hamad Medical Corporation, Neuroscience Department ,and also Associate Professor of Clinical Neurology/Epilepsy at Weill Cornell Medical College Qatar; He is the Director of the Comprehensive Epilepsy Program and also the Director of the Neurology Fellowship Program at HMC ; Dr Mesraoua is the author and co-author of many peer reviewed publications in reputed epilepsy journals ,and editor of one book on status epilepticus and eight book chapters in the field of Epilepsy and Clinical Neurology Neurology

Abstract:

Introduction: The aim of this study is to provide the reader with a review on Complementary and Alternative Medicine (CAM) treatment in epilepsy in the Middle East and North Africa (MENA) region, to describe the extent and factors associated with its use among patients with epilepsy (PWE), and to recommend how effectively we will be able to reduce this alarming use

Material and methods: Retrospective literature search from 1945 to December 2019, regarding CAM use in the MENA region, using electronic databases

Conclusion: The use of CAM and consultation of traditional healers for the treatment of epilepsy has so far been widespread practice for centuries in the MENA region. Lack of health professionals and non-adherence to conventional epilepsy treatment are strongly associated with the use of CAM. Improvement in the level of knowledge of epilepsy among PWE, healthcare professionals, including traditional healers, will educate PWE and their caregivers on potentially unsafe practices and promote adherence to Antiseizure Drugs (ASDs). Additionally, randomized controlled trials are needed to study the role and value of various CAM treatment options in PWEs.

Biography:

Currently, Elizaveta Volodyaeva is the head of the department of rehabilitation of children of the Rehabilitation Center for the Disabled "Tsaritsyno", Moscow. Graduated from the Evdokimov Moscow State Medical University. After graduation, she studied in clinical residency in neurology at the Central Medical Academy of the Presidential Administration of the Russian Federation. She worked at the Scientific and Practical Center of Child Psychoneurology. Collaborates with the Department of Pediatric Neurology of the Russian Medical Academy of Postgraduate Education, Moscow, under the guidance of Professor Valery Zykov. Works with Natalia V. Chebanenko, Associate Professor of the Department of Pediatric Neurology. Studies neurogenetics: genetic heterogeneity of cerebral palsy, genetics of epilepsy, genetics of autism, the role of genetic factors for the rehabilitation of children with cerebral palsy and hereditary diseases of the nervous system. Elizaveta Volodyaeva is the author of scientific publications and articles in journals.

Abstract:

Purpose: Study of genetic abnormalities in patients with cerebral palsy suffering from epilepsy.

Method:  The next generation sequencing (NGS) study was conducted in 373 patients with cerebral palsy and epilepsy. In 136 (36.5%) patients  identified genetic variants were validated by Sanger sequencing and classified as pathogenic. The pathogenic variants were detected in 91 genes. The distribution of genes into groups of determinants was carried out (Sokolov PI et al. Russian Journal of Child Neurology. 2020;15:65-77).

Result: There were more genes in the determinant groups ENM (regulation of neuronal membrane excitability) 20,5%, CMTR (control of chromatin modifications, transcription and replication processes) 14,7%, CS (regulation of cytoskeleton formation and functioning) 13,2%, NTS (regulation of neurotransmitter metabolism and synapse functioning) 10,3%. The distribution of genes according to the degree of motor deficiency was specific: in all groups, except for canalopathy genes (ENM). Brain defects revealed in the CMTR (control of chromatin modifications, transcription and replication processes) 25,5%, CS (regulation of the formation and functioning of the cytoskeleton) 9,6% and ENM (regulation of the excitability of the neuronal membrane) 9,6% groups. The RMF group (regulation of the functions of the mitochondrial apparatus) was characterized by the highest resistance to epilepsy. In cases from the group with the canalopathy genes (ENM), the epileptic process was not the most refractory.

Conclusions: According to the contribution to the pathogenesis of cerebral palsy with epilepsy, the distribution of determinants for the provision of excitability and conduction of the nervous tissue (ENM and NTS), the regulation of neuroontogenesis processes (NOG and CMTR), and the predetermination of enzymatic defects leading to storage diseases (GSD) are permissible. The determinant ENM is responsible for both the formation of motor deficits and the formation of the epileptic process. At the same time, its influence on motor deficit is nonspecific.

Key words: cerebral palsy, epilepsy, genes, determinations, next generation sequencing, refractoriness.

Biography:

Currently, Elizaveta Volodyaeva is the head of the department of rehabilitation of children of the Rehabilitation Center for the Disabled "Tsaritsyno", Moscow. Graduated from the Evdokimov Moscow State Medical University. After graduation, she studied in clinical residency in neurology at the Central Medical Academy of the Presidential Administration of the Russian Federation. She worked at the Scientific and Practical Center of Child Psychoneurology. Collaborates with the Department of Pediatric Neurology of the Russian Medical Academy of Postgraduate Education, Moscow, under the guidance of Professor Valery Zykov. Works with Natalia V. Chebanenko, Associate Professor of the Department of Pediatric Neurology. Studies neurogenetics: genetic heterogeneity of cerebral palsy, genetics of epilepsy, genetics of autism, the role of genetic factors for the rehabilitation of children with cerebral palsy and hereditary diseases of the nervous system. Elizaveta Volodyaeva is the author of scientific publications and articles in journals.

Abstract:

Introduction In more than half of full-term children with a hyperkinetic form of cerebral palsy, it is not possible to identify the etiological factor in the development of the disease. 

Patients and methods. Under observation was a girl of 12 years old with a hyperkinetic form of cerebral palsy. The neurological examination, brain MRI and the NGS-based “Inherited Epilepsy” gene panel was performed

Results. Diffuse muscle weakness with subsequently appeared dystonic attacks and facial myokimia presented at birth. At date of examination a girl had also delayed mental and motor development, dysarthria and hypersalivation. Structural pathology was not detected on brain MRI. By NGS-testing a heterozygous mutation c.919G>A in ADCY5 gene was reported. According recommendations of ACMG this variant classified as a variant of uncertain clinical significance. The database of the Genomed laboratory contains information about 5 patients with mutations in the ADCY5 gene. Of these, in one patient the mutation was previously described as pathogenic, causing familial dyskinesia with facial myokymia (OMIM: 606703). For other patients, mutations in the ADCY5 gene are considered as possible causes of the disease and require additional testing.

Conclusion. When confirming the clinical significance of mutations in the ADCY5 gene in the described patient, this clinical case will be a vivid example of allelic genetic heterogeneity. The polymorphism of clinical manifestations in patients with mutations in the same gene confirms the effectiveness of using multi-gene panels in patients with motor disorders.

Key words: cerebral palsy, genes, determinations, next generation sequencing.

Biography:

Ilana Cohen earned her Ph.D. in neurobiology at the Weizmann Institute of Science, Israel.  She has more than 20 years of experience in scientific management of drug development, leading multidisciplinary projects from initial drug discovery stages to clinical trials. As part of Immunity Pharma (IPL) management her main goal is helping people living with neurodegenerating disorders by developing innovative therapies.  She leads the development of Immunity Pharma’s novel technology platform that focuses on receptor-independent activation of the pro-survival Akt pathway, a key pathway in preventing neurodegeneration. IPL's first drug candidate targets Amyotrophic Lateral sclerosis (ALS) is currently evaluated in exploratory open label Phase 2a clinical trial with ALS patients.

Abstract:

ALS in humans and mouse models features lowered levels of AKT in motor neurons and skeletal muscles (1-3).  A synthetic peptide of 7 amino acids IPL344 (Stressin) was found to activate AKT and inhibit apoptosis induced in different ways in various cell cultures (4).  Here we report that IPL344 administered therapeutically IV and IP to SOD1G93A transgenic mice at disease onset, detected by weight loss according to guidelines (5), led to clinical benefits: enhanced survival, arrested weight loss, and neurologic preservation (measured by limb function).  Previous experiments determined dose and site of administration in a total of 100 mice. The concluding experiment was done with two groups of 21 mice each, supported statistically (6); 21 mice were vehicle-treated controls and 21 test mice were given 200 micrograms IP and 200 micrograms IV daily to individual mice at the onset of their weight loss.  The results are shown in Figure 1: Median survival was longer by 9 days in the treated mice compared to controls (P=0.02); loss of neurologic function over days 107-119 was 40% in controls and 12% in treated mice (p=0.001); and weight loss on days 114-125 was 11% and 4%, respectively (p=0.01).  Thus, IPL344 administered after the onset of clinical disease benefited the course of the disease.  In view of these positive benefits in an ALS animal model, we have initiated daily IV treatments of human ALS patients.