Rare Disease Show: Episode 4 - Understanding Angelman Syndrome - Video
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Overview
Medical Dialogues presents a rare disease series, delving into the realm of uncommon medical conditions. Rare diseases are medical conditions that affect only a small percentage of the population. Throughout this series, we'll discuss these rare diseases in various episodes, with medical experts providing clear explanations and insights.
Rare Disease Show Episode 4-- In today's show we will cover Angelman Syndrome.
Angelman syndrome is a rare genetic disorder caused by a malfunction in the UBE3A gene on chromosome 15. It leads to developmental delays, severe speech impairment, intellectual disability, and movement issues. People with this syndrome often have a happy, excitable demeanor with frequent smiling and laughter. While there is no cure, therapies can improve quality of life by managing symptoms and enhancing communication and motor skills.
In this episode, Dr Pratibha Singhi, a Pediatric Neurologist shares her insights by addressing following questions:
1. Can you provide an overview of Angelman Syndrome, as why is it considered a rare disorder? Also if you can explain its causes and genetic basis?
2. What are the primary symptoms and characteristics of Angelman Syndrome?
3. How is Angelman Syndrome diagnosed, and what tests are typically used to confirm the diagnosis?
4. What treatment options are available for managing the symptoms of Angelman Syndrome?
5. Can you discuss any recent advancements in research or treatment for Angelman Syndrome?
6. What role do genetic counseling and testing play for families with a history of Angelman Syndrome?
7. What therapies can help manage the behavioral and sleep issues often seen in Angelman Syndrome?
Speakers
Dr. Nandita Mohan
BDS, MDS( Pedodontics and Preventive Dentistry)
Dr. Nandita Mohan is a practicing pediatric dentist with more than 5 years of clinical work experience. Along with this, she is equally interested in keeping herself up to date about the latest developments in the field of medicine and dentistry which is the driving force for her to be in association with Medical Dialogues. She also has her name attached with many publications; both national and international. She has pursued her BDS from Rajiv Gandhi University of Health Sciences, Bangalore and later went to enter her dream specialty (MDS) in the Department of Pedodontics and Preventive Dentistry from Pt. B.D. Sharma University of Health Sciences. Through all the years of experience, her core interest in learning something new has never stopped. She can be contacted at editorial@medicaldialogues.in. Contact no. 011-43720751
Dr. Pratibha Singhi (MBBS, MD (Paediatrics), FIAP, FNAMS) is the HOD (Paediatric Neurology) at Amrita Hospital, Faridabad, with over 40 years of experience in the field of Paediatric Neurology. Dr Pratibha specialises in treating Seizures and Epilepsy in infants and children, Autism Spectrum Disorders, Cerebral palsy, ADHD and Learning Disabilities, Neurodevelopmental, Behavioral and Psychosomatic disorders, Infections of the Nervous System including Meningitis and Encephalitis, Neurocysticercosis, Tuberculosis of the Nervous System, Headaches, Acute weakness, Paralysis and stroke in children, Nerve and Muscle Diseases, Movement Disorders. She is currently the President of the International Child Neurology Association (ICNA) and founder member of the Child Neurology and Childhood Disability groups in India. She has been listed among the top 2 scientists in the world in a study published by the Stanford University USA. She completed several international research projects - WHO, INDO UK, INDO-EU and INDO-Swedish, published about 500 scientific papers and book chapters. She authored a book on “Seizures and Epilepsy in Children” and edited 4 books including the ICNA book on “CNS Infections”.
