^{31st Clinical Neuroscience and Neurogenetics Conference: Mobilizing Neurons to Rehabilitate} August 13-14, 2018 Dubai, UAE

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Fetal medicine is an expanding branch of medicine. Fetal ultrasound screening becomes one of the main targets of health ministries all over the world especially in developed countries. Its aim is early detection of major handicapping fetal anomalies and proper management of each pregnancy. Three main fetal scans are recommended during pregnancy to screen for any fetal or placental anomalies, one scan at a specific time in each trimester. Each scan is characterized by specific fetal features with well-known normal parameters and ranges. Some of the neurogenetic diseases will result in abnormal fetal features which will vary according to the timing of the scan. A deviation of any fetal parameter out of expected range should be treated with a careful and meticulous interpretation and follow up in order to reach the proper diagnosis, prognosis and management. We will present here the three main fetal scans and the abnormal fetal features which can be associated with some neurogenetic diseases. We will present also the complementary required genetic and or other radiological test which are required to confirm the diagnosis and hence the prognosis and the management. However, despite of advanced fetal echography and different detection techniques, we are still facing a lot of challenges regarding predictive factors and family counseling. 

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All kids tend to misbehave at times but if over a period of six months there is a noticeable patterns of misbehavior involved hostile, aggressive or disruptive or even behaviors which is not age appropriate. Then it is time to step in and guide them towards more positive direction/behavior. The most common disruptive behavior disorders are Oppositional Defiant Disorder (ODD), Conduct Disorder (CD), Attention Deficit Hyperactivity Disorder (ADHD) and a child or adolescent may have two disorders at the same time. Other exacerbating factors can include emotional problems, mood disorders, family difficulties and substance abuse. 8% of children under the age of 12 years around the world exhibit oppositional defiant disorder with boys outnumbering girls by two to one. Some of the typical behaviors’ of a child with ODD include aggressive, irritating and disturbing attitude. Around 5% of 10 year olds are thought to have CD with boys outnumbering girls by four to one. Around one-third of children with CD also have attention deficit hyperactivity disorder. Severe symptoms of the typical behavior of a child with ODD include physical fights, use of drugs and suicidal attempts. Around two to five percent of children are thought to have attention deficit hyperactivity disorder with boys outnumbering girls by three to one. The characteristics of ADHD can include: inattention, impulsivity and over activity. All children with symptoms of ADHD and ODD/CD need to be assessed so that both types of problem behaviors can be treated. These children are difficult to live with and parents need to understand that they do not need to deal with their ADHD and ODD/CD child alone. Interventions such as parent training at home and behavioral support in the school can make a difference and parents should not hesitate to ask for assistance. Providing appropriate instructional supports in the classroom can also lessen disruptive behavior which include, creating an accepting and supportive classroom climate, promoting social and emotional skills, establishing clear rules and procedures, monitoring child behavior, utilizing rewards effectively, responding to mild problem behaviors consistently and effectively managing anger or aggressive behavior. Risk factors in children’s behavioral disorders related with education field are learning difficulties; problems with reading and writing are often associated with behavior problems. Common problems noticeable with students in education are Auditory processing disorder, dyscalculia, dysgraphia, dyslexia and language processing disorder. Children with intellectual disabilities are twice as likely to have behavioral disorders, non-verbal learning disorder, visual perceptual disorder, dyspraxia, insufficient intellectual functioning and impaired memory.

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Sami Salahia is co-founder at MRSA Group and GMRA in the UAE. He is a 5th year medical student (Candidate medical Doctor) at Ain Shams University in Egypt with an interest in medical research and have a number of publications in peer reviewed journals. Being a Team Leader, he gives training workshops to Undergraduate Medical Students in Egypt and the UAE Specially for Secondary Research. 

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Dr Vittorio Iantorno is a Consultant Neurologist with 20 Years of European experience in the Neurology field. He completed his study in Rome (Italy) and then moved to UK. He is Fellow of the Royal College of Physicians (FRCP- London, UK), Past Member of the Movement Disorder Society, Past-Councillor of Italian Medical Society of Great Britain and Member of the Emirates Neurological Society. He spent nearly two decades working in the United Kingdom in various prestigious Hospitals such as the Royal Free Hospital London and the Regional Neuroscience Centre at King’s College Hospital. For many years he served as the Head of Neurology Department for Heart of England NHS Trust - which is one of the largest Foundation Trusts in the West Midlands in UK - as Educational Co-ordinator for Neurology and also as the Chairperson of the local Movement Disorders/Parkinson’s Disease Operational Group. He has always been fascinated by Movement Disorders since early stage of his career especially by either the excess of movement or paucity of voluntary or involuntary movement patients experience with such conditions. He has been fundamental in setting Multidisciplinary Teams approach which he feels being a cornerstone in managing patients with Movement Disorders and he believes that such clinical conditions are an evolving field which will hopefully bring a better insight of the pathogenesis of the related diseases and improve clinical care for patients  

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Some Movement Disorders represent a challenging condition for Neurologists to diagnose and treat. The basal ganglia were originally thought to be associated purely with motor control. However, dysfunction and pathology of different regions and circuits are now known to give rise to many clinical manifestations beyond the association of basal ganglia dysfunction with movement disorders. Hepatolenticular Degeneration has for a long time been of particular interest to the Neurologists. It exemplifies a specific metabolic disorder involving some special relation between hepatic cirrhosis and degeneration of the brain. The disease is a microcosm of the history of neurology, beginning with seminal clinical observations followed by pioneering work translating a specific deficiency in sheep to human treatment, and continuing on to identification of causative gene mutations. For nearly half a century the cause of the disease remained unclear and patients continued to die without definitive treatment. Things changed rapidly once the clear pathogenesis was demonstrated. Recognition of the disorder is important because effective treatment can prevent or improve disease features.

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Temitope H Farombi is a graduate of University of Ibadan, Nigeria. She trained in Internal Medicine at the University College Hospital (UCH) and Neurology at UCH Ibadan, Nigeria. She was a Visiting Scholar to the Northwestern University Chicago, USA and has published articles in scientific journals.

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Mehdi Fathi has fellowship of Cardiac Anesthesia. He is an Associated Professor in Imam Rezqa Hospital which is central hospital of Mashhad University, Mashhad, Iran. He is also an international Lecturer in the hypnosis field and he is a Secretary of Iranian Scientific Society of Clinical Hypnosis.

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Pain is an individual somatosensory-emotive experience. This emphasizes that we must deal with pain case by case because patients’ personality is different. Their cognition about pain, their competence and their life style and attitude would affect their pain perception and pain tolerance, then many of psychological intervention can help pain sensation. There are some well-known interventions for this manner including cognitive therapy, mental relaxation, biofeedback and hypnosis. Hypnosis is an attentive receptive brain state. Its principle components are absorption, dissociation and reduce peripheral awareness. Hypnoanalgesia has defined as guided imagery that may lead to dissociation to pain sensation or distortion of pain perception. Hypnotic suggestions induce hypnotic state and then hypnotherapist guides them to association of manners that associated to calmness, painless or sensation of other senses far as pain like pressure instead of pain. This suggestion may control pain during surgery. Many reports are about wide variety of surgeries that had done under hypnotic state without using anesthesia drugs (Cesarian section, labor abdominal surgery, orthopedic operation and so on). Also suggestion can lead to induce postoperative painless period. It needs to induce conditioning state during surgery and suggest patient to be pain free on postoperative period. This presentation would include some brief movies about surgeries that have done them without anesthesia just only through hypnosis and they show intra and postoperative analgesia.

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Background: Next-generation sequencing (NGS) have become more accessible and widely available technology to detect genetic causations of diseases. While NGS technology has already benefited different clinical phenotypes, some areas have adapted less quickly than others, as in seizures and epileptic disorders, where genetic diagnosis were mainly based on epilepsy gene panels and not whole exome and/or genome sequencing. Method: We retrospectively analyzed 689 cases that have been sent for NGS over period of 18 months to investigate challenges in diagnosing epilepsy. Result: 74 (10.7%) cases out of 689 cases were sent for epilepsy, half of these cases have a positive family history. The results of NGS were divided as the following: 39 (52.7%) cases were negative, 26 positive cases (35%), and 11 inconclusive cases (14.8%). Out of the inconclusive and positive cases, only one gene has been detected twice in different cases. Comparative Genomic Hybridization (CGH) has been performed for all negative cases, only one case showed de novo duplication in 2q24.3. Conclusion: These findings have implications for our understanding of genetic testing approach and genetic counseling for patients affected with seizures and epilepsy disorders. The overall diagnostic yield of exome/genome sequencing in our cohort was 35%. And the main characteristics is genetic heterogeneity suggests NGS technology as suitable testing approach for seizures and epilepsy disorders. Genetic counseling for newly identified disease-causing variants depends on pedigree interpretation keeping in mind disease penetrance and variable expressivity. 

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Dr Vittorio Iantorno is a Consultant Neurologist with 20 Years of European experience in the Neurology field. He completed his study in Rome (Italy) and then moved to UK. He is Fellow of the Royal College of Physicians (FRCP- London, UK), Past Member of the Movement Disorder Society, Past-Councillor of Italian Medical Society of Great Britain and Member of the Emirates Neurological Society. He spent nearly two decades working in the United Kingdom in various prestigious Hospitals such as the Royal Free Hospital London and the Regional Neuroscience Centre at King’s College Hospital. For many years he served as the Head of Neurology Department for Heart of England NHS Trust - which is one of the largest Foundation Trusts in the West Midlands in UK - as Educational Co-ordinator for Neurology and also as the Chairperson of the local Movement Disorders/Parkinson’s Disease Operational Group. He has always been fascinated by Movement Disorders since early stage of his career especially by either the excess of movement or paucity of voluntary or involuntary movement patients experience with such conditions. He has been fundamental in setting Multidisciplinary Teams approach which he feels being a cornerstone in managing patients with Movement Disorders and he believes that such clinical conditions are an evolving field which will hopefully bring a better insight of the pathogenesis of the related diseases and improve clinical care for patients  

Abstract:

Some Movement Disorders represent a challenging condition for Neurologists to diagnose and treat. The basal ganglia were originally thought to be associated purely with motor control. However, dysfunction and pathology of different regions and circuits are now known to give rise to many clinical manifestations beyond the association of basal ganglia dysfunction with movement disorders. Hepatolenticular Degeneration has for a long time been of particular interest to the Neurologists. It exemplifies a specific metabolic disorder involving some special relation between hepatic cirrhosis and degeneration of the brain. The disease is a microcosm of the history of neurology, beginning with seminal clinical observations followed by pioneering work translating a specific deficiency in sheep to human treatment, and continuing on to identification of causative gene mutations. For nearly half a century the cause of the disease remained unclear and patients continued to die without definitive treatment. Things changed rapidly once the clear pathogenesis was demonstrated. Recognition of the disorder is important because effective treatment can prevent or improve disease features.

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Lamia F Alsubaie is a Senior Genetic Counselor at the National Guard Health Affairs in Riyadh, KSA since 2011 and part-time Instructor at Al-Faisal University, College of Medicine. She is working on variant calling and interpretation in genomic medicine since 2015. She holds a Master’s degree in Human Genetics and Genetic Counseling from Joan H. Marks-Human Genetic Program at Sarah Lawrence College in New York, USA. Her main areas of professional interest are cancer genetic counseling, genomic counseling and ethical challenges surrounding genetic testing and genetic information sharing.

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Background: Next-generation sequencing (NGS) have become more accessible and widely available technology to detect genetic causations of diseases. While NGS technology has already benefited different clinical phenotypes, some areas have adapted less quickly than others, as in seizures and epileptic disorders, where genetic diagnosis were mainly based on epilepsy gene panels and not whole exome and/or genome sequencing. Method: We retrospectively analyzed 689 cases that have been sent for NGS over period of 18 months to investigate challenges in diagnosing epilepsy. Result: 74 (10.7%) cases out of 689 cases were sent for epilepsy, half of these cases have a positive family history. The results of NGS were divided as the following: 39 (52.7%) cases were negative, 26 positive cases (35%), and 11 inconclusive cases (14.8%). Out of the inconclusive and positive cases, only one gene has been detected twice in different cases. Comparative Genomic Hybridization (CGH) has been performed for all negative cases, only one case showed de novo duplication in 2q24.3. Conclusion: These findings have implications for our understanding of genetic testing approach and genetic counseling for patients affected with seizures and epilepsy disorders. The overall diagnostic yield of exome/genome sequencing in our cohort was 35%. And the main characteristics is genetic heterogeneity suggests NGS technology as suitable testing approach for seizures and epilepsy disorders. Genetic counseling for newly identified disease-causing variants depends on pedigree interpretation keeping in mind disease penetrance and variable expressivity.

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