About Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common inherited, single-gene cause of intellectual disability and autism worldwide. It can cause intellectual disabilities, ADHD, autism, speech delay. It can be diagnosed by a DNA blood test and it is estimated that 5% of people with a diagnosis of an Autism Spectrum disorder also have Fragile X Syndrome.
The prevalence of FXS in males is approximately 1 in 3,600 and in females is approximately 1 in 4,000. Around 5% of people with Autism Spectrum Disorder also have FXS. It is estimated that in India we have approximately 4 lac children with FXS, most of whom are undiagnosed and untreated.
FXS is caused by the expansion of the FMR1 gene on the X chromosome, known as a gene mutation. In ‘carriers’ this gene may contain between 50-200 repeats. FXS is caused when this gene lengthens to over 200 repeats interfering with the normal production of this protein and therefore normal brain development.
The gene may be passed down through each generation. Daughters of male carriers will inherit their fathers affected X chromosome and they will also be carriers. Sons of male carriers will not inherit their fathers X chromosome and won’t be affected. As females have two X chromosomes, children of female carriers have a 50% chance of inheriting the affected gene.
Know The Signs
- Behavioural characteristics – ADD, ADHD, autism and autistic behaviours, social anxiety, hand-biting, flapping, poor eye contact, sensory disorders, and increased risk for aggression.
- Intellectual disabilities – Ranges from moderate to more severe intellectual disabilities. The majority of males with Fragile X syndrome demonstrate significant intellectual disability.
- Physical features – Include large ears, long face, soft skin, and large testicles in post-pubertal males. Connective tissue problems may include ear infections, flat feet, high arched palate, double-jointed fingers, and hyper-flexible joints. No one individual will have all the features of FXS, and some features, such as a long face, are more common after puberty.
- Disposition – They are also very social and friendly, have excellent imitation skills, have a strong visual memory/long term memory, like to help others, are nice, thoughtful people and have a wonderful sense of humour.
- Behavioural characteristics – The same characteristics seen in males can also be seen in females, though females often have milder intellectual disability and a milder presentation of the features.
- Intellectual disabilities- About one third of females with FXS have a significant intellectual disability. Others may have moderate learning disabilities, emotional/mental health issues, general anxiety, or social anxiety.
- Physical features – Similar to males, these include large ears and a long face. These also include similar connective tissue problems like ear infections, flat feet, high arched palate, double-jointed fingers, and hyper-flexible joints. No one individual child will have all the features of Fragile X Syndrome.
- Disposition – Females a similar disposition to males. However, due to their milder presentation of the syndrome’s physical traits and behavioural charecteristics, the condtion may not be as outwardly noticeable.
What is the Fragile X Society – India?
The Fragile X Society is based in Mumbai, India, and has successfully created a network all over the country with parents and eminent doctors. The society promotes public and professional awareness. We extend help to families with affected children in terms of literature (translated versions available on request), guidance and a deep understanding of how Fragile X Society can impact families. We also hold seminars, workshops and conferences in Mumbai and various parts of the country.
Our founder members are Nirmal B. Kedia and Nitin S. Kedia who have always been very supportive and prove to be the spine of the organization.
Founded in 2003
For over 2 decades, Fragile X Society – India continues to stand as a beacon of hope for families impacted by the condition. The organization’s dedication to spreading awareness and serving as a support system for affected families remains unwavering.
7,000 families and counting
The Fragile X Society – India has become a lifeline for over 7,000 families, offering them much-needed guidance, information, and support.
“We strive to provide a deep understanding of the condition and guide families on their journey forward. We walk alongside them, every step of the way,” affirms Shalini Kedia.
Dr. Anaita Udwadia Hegde
Dr. Anaita Udwadia Hegde is a well-known Consultant Paediatric Neurologist in India. She is attached to Jaslok Hospital and Research Centre, Breach Candy Hospital Trust, SRCC Children’s Hospital and Bai Jerbai Wadia Hospital for Children’s, Mumbai. She is a member of several national and international neurological societies, and also organizing secretary for upcoming International Child Neurology Congress Mumbai 2018. She is also involved in Paediatric Neurology Rural Project from 2010, treating over 5010 patients till date. Dr. Hegde has published several papers in national and international journals. Her interest area includes Paediatric Epilepsy, Epilepsy Surgery, Movement disorders, and Disability.
Dr. C. N. Purandare
Obstetrician Gynaecologist Sec. Gen. FOGSI-Mumbai
President – FIGO
President FOGSI – 2009
Dean – Indian College of Obstetricians and Gynaecologists
Editor Emeritus – Journal Obstetrics & Gynaecological Societies of India.
Professor Emeritus – National Research ObGyn Institute, Moscow
Awarded – Medscape India Best Gynaecologist Award. Awarded – “Rashtriya Gaurav Award” for contribution and excellence in the field of Obstetrics and Gynaecology.
Consultant Obstetrics & Gynaecology- St. Elizabeth Hospital, BSES and Saifee Hospital Mumbai
Specialisation in Ultrasound in OBGYN and various Ultrasound Guided Invasive Procedures and management of High Risk Pregnancy. First to perform – Foetal Surgery in India.
Member – Editorial Board, Journal, FOGSI.
Conferred – Hon. Fellowship of the European Board of Obstetricians & Gynaecologists, European Board College, EBCOG – 2018
Dr. Randi Hagerman
Medical Director of the M.I.N.D. Institute – California
Medical Director, UC Davis MIND Institute-Professor of Paediatrics. In 2008. Received Lifetime Achievement Award from the National Fragile X Foundation. Randi Jensen Hagerman is a developmental and behavioural paediatrician and have studied patients with fragile X syndrome (FXS), autism, and other neurodevelopmental disorders for her entire career, which is longer than 25 years. Randi Jensen Hagerman heads the Clinical Trials Program at the MIND Institute, where she is also the medical director, and holds an Endowed Chair in Fragile X Research. Randi Jensen Hagerman heads the Clinical Trials Program at the MIND Institute, where she is also the medical director, and holds an Endowed Chair in Fragile X Research. Randi Jensen Hagerman has carried out significant work regarding treatment and phenotypic involvement in permutation carriers of all ages.
Dr. Sumantra Chattarjee
National Center for Biological Sciences – Bangalore
Professor of Neurobiology-National Centre for Biological Sciences. Tata Institute of Fundamental Research .Director-Centre for Brain Development and Repair at the Institute for Stem Cell Biology and Regenerative Medicine. Dr. Chattarji was awarded the International Senior Research Fellowship by The Welcome Trust, UK and the Vision 2008 Award by the Fragile X Research Foundation, USA. His lab also studies synaptic defects and their reversal in Fragile X Syndrome, the leading identified cause of autism. He is also the founding Director of the recently established Centre for Brain Development and Repair at inStem, Bangalore, an international collaborative centre with the University of Edinburgh dedicated to research on autism spectrum disorders.
Dr. B.K. Thelma
Department of Genetics, University of Delhi – South Campus
Professor Thelma B.K. is a faculty member and Team leader of the Centre of excellence in Genome sciences and predictive medicine in the department of Genetics at the University of Delhi south campus, New Delhi. Unravelling the genetic basis of both Mendelian disorders and common complex traits is the major focus of her research work. Identification of novel disease causing/risk conferring gene variants for X-linked intellectual disability, Parkinson’s disease, Schizophrenia, Rheumatoid arthritis and Ulcerative colitis are some of the highlights of her recent work. Prof. Thelma has several national and international research projects and has published her research in international journals of repute. Prof. Thelma is a fellow of all the three science academies in India. She serves as an expert member in several task force committees of funding agencies and has also served as a member on the Science and Engineering Research Board, India and on the Scientific Advisory Council to the Prime Minister of India.
Dr. P. G. Samdani
Dr. Prahalad Ghanshyam Samdani is a Paediatric Consultant since 47 years. Dr. Samdani made his first diagnosis of “Fragile X Syndrome” way back in the year 1999 when the child was only 18 months old. He is a Post Graduate Teacher for M.D. & DNB Paediatrics. Dr. Samdani is a Paediatrician at Jaslok Hospital, Motiben Dalvi Hospital, and Bhatia Hospital. Founder, President of Indian Children’s Continence Society (ICCS) affiliated to I.C.C.S. Denmark .Hon. Vice President Research Society at Grant Medical College J.J Hospital. Speaker on Cyber Conference by IERC International Enuresis Research Centre at Ghent Belgium, 2000.
Robert M. Miller
Director of Clinic and International Relations- NFXF, USA
From 1999 through 2013 He has served as executive director of the National Fragile X Foundation, where Robert played a leading role in the formation of a nationwide network of evaluation, treatment and research clinics. In 2014 Robert launched a human service consulting business. His clients range from a university medical centre to a number of rare disorder parent support organizations, all focused on improving outreach and services to families and better engagement with clinicians and researchers in the development of consensus and evidence-based treatments. For over 45 years Robert has been working with families who have a child or children with special needs, along with the professionals who work with those children and families. Robert is particularly interested in how families learn about, access and receive meaningful information and services from competent professionals, organizations and institutions.
Dr. Vibha Krishnamurthy
Developmental Paediatrician, Founder and Medical Director of Ummeed – Mumbai
Dr. Vibha Krishnamurthy is a Developmental Paediatrician with 20 years of experience in working with children with disabilities and their families in India. She trained in Developmental Paediatrics at Children’s Hospital, Boston, and founded Ummeed Child Development Centre in 2001 where she is currently the Executive Director. Ummeed is one of India’s leading not for profits that works with children with disabilities and their families. She has led the team at Ummeed in its delivery of services, training, advocacy and research in the field of child development and disability. She serves as an expert on Early Childhood Development and Disability for the Govt of India, WHO and UNICEF.