Bangalore, December 19, 2007
http://www.livemint.com/2007/12/19230109/Pathbreaking-leads-in-treatme.html
One theory regarding FXS has it that many of the symptoms associated with it are caused by the unchecked activation of a chemical (called mGluR5) found in the nervous system.
An Indian scientist at the National Centre for Biological Sciences (NCBS) is part of a team that may have found a possible cure for the most common form of mental retardation and autism.
Researching on mice that have the same genetic mutation that causes the so-called fragile X syndrome (FXS) as this condition is called in humans, Sumantra Chattarji at NCBS and his colleagues at the National Institute of Mental Health and Neuro Sciences (Nimhans), in Bangalore and Massachusetts Institute of Technology, in Cambridge, Massachussetts have discovered path-breaking leads to curing FXS. The condition currently has no treatment and its symptoms include mental retardation, epilepsy and abnormal body growth.
In a paper published in the 20 December issue of Neuron, one of the world’s best known neurosciences journal, Chattarji and his colleagues show that by altering a single gene, a wide range of FXS abnormalities can be corrected.
“It’s a dramatic further support of the fact that FXS.... can be treated. It makes us more hopeful that not only behaviour but even cognitive impairment can be corrected,” said Randi J. Hagerman, an expert on FXS and medical director at the MIND Institute at University of California, Davis. She added that the finding has the potential to treat many sub-types of autism.
One theory regarding FXS has it that many of the symptoms associated with it are caused by the unchecked activation of a chemical (called mGluR5) found in the nervous system. By reducing the activation of this chemical, this theory argues, some of the symptoms can be controlled. Chattarji’s experiments with mice have essentially proven this theory.
Chattarji has been an active contributor to the global quest for FXS cure, led by Fragile X Research Foundation (FRAXA) in Newburyport, Massachussetts. He has also been collaborating with clinicians in India and the US to get a screening programme off the ground in India. “Before we get India on the global FXS drug trial network, we need to have an identified population. We have no idea what’s the incidence of this disease in India,” he said.
Hagerman, who last week started a “blood spot screening technique” (to diagnose FXS) at NCBS and has visually inspected many clinics here, said that India has much higher incidence of FXS than estimated. “I toured many clinics and found many children with FXS who had not been diagnosed,” she added.
Once the technique is standardized, researchers will begin screening children at the Madhuram Narayanan Centre for Exceptional Children in Chennai, which, Chattarji, said is one of the few centres in the country focusing on autism and other related disorders. Centres such as Nimahans and St Johns Hospital in Bangalore and Christian Medical College in Vellore will join the programme after this, he added.
Hagerman said that the new screening tests would be cheaper than the currently sporadically available diagnostics.
Seema Singh, © Copyright 2007 Live Mint
New Delhi, December 19, 2007
http://www.telegraphindia.com/1071220/jsp/nation/story_8689035.jsp
Indian and US scientists have pushed medicine a big step closer towards correcting the most common form of inherited mental retardation and a leading cause of autism.
In studies on mice, researchers at the Massachusetts Institute of Technology (MIT) and two national laboratories in Bangalore have corrected symptoms caused by the genetic disorder called Fragile X Syndrome (FXS).
Their findings, to appear tomorrow in the journal Neuron, are based on the genetic correction of FXS in mice. But the research leap has bolstered hopes that drugs may also be able to achieve the same effect in humans.
“The mutation that causes FXS leads to abnormalities in the structure and functions of the brain. These studies show us how they might be corrected through a very specific mechanism,” said team member Sumantra Chattarji, a neurobiologist at the National Centre for Biological Sciences in Bangalore.
“This is the first mechanism of treatment for FXS for which drugs are already in the pipeline,” Chattarji said.
The studies have cemented evidence for the idea that the FXS mutation leads to over-activation of a gateway, called mGluR5, on the surfaces of brain cells. In people — or mice — with FXS, mGluR5 runs rampant.
“Fragile X is a disorder of excess — excess protein synthesis, memory extinction, body growth and excitability — and remarkably all the excesses can be reduced by reducing mGluR5,” said Mark Bear, lead author of the study and neuroscience professor at MIT.
The studies have shown that a 50 per cent reduction in mGluR5 — achieved by a genetic route — corrected the abnormal connections between brain cells, improved brain development and memory, restored body growth and reduced seizures — symptoms experienced by FXS-affected humans.
Doctors estimate that one in 3,600 males and one in 4,000 to 6,000 females have FXS, which has no known cure. It is caused by mutation in a single gene and its symptoms can range from learning disabilities to severe mental retardation, social and emotional problems as well as growth abnormalities.
The findings have raised hopes among parents of children affected by FXS.
Chattarji and neurophysiologist B. Shankaranarayan Rao, from the National Institute of Mental Health and Neurosciences in Bangalore, found that mice with FXS mutation, along with lower levels of mGluR5, had healthy connections between brain cells.
“Their brains looked no different from those of ordinary mice. It’s encouraging,” Chattarji said. The move from the genetic route in FXS animals to drug trials in humans might be fast because drugs that lower mGluR5 had been developed decades ago by companies for other conditions.
G. S. Mudur, © Copyright 2007 The Telegraph
Mumbai, December 19, 2007
http://www.hindustantimes.com/StoryPage/StoryPage.aspx?id=181da33d-777d-4eff-939e-a4cbbce6d1c2
Scientists in Bangalore and the Massachusetts Institute of Technology (MIT), USA, have reversed major symptoms of mental retardation and autism in mice.
The breakthrough makes headway in the faster development of drugs to treat these disorders, that impair social and learning skills.
With MIT’s Picower Institute for Learning and Memory, the team corrected many symptoms of Fragile X syndrome — the most common inherited cause of mental retardation and autism — in mice engineered to have the same symptoms as humans with the syndrome.
The results were published in the international journal Neuron this week.
The researchers used genetic engineering to treat mice by manipulating a single brain protein, but future drugs could accomplish this effect too. Currently, there is no sure cure available. “Several drugs to treat Fragile X syndrome that are being developed in the US, target the brain receptor our study focused on,’’ neuroscientist Sumantra Chattarji of the National Centre for Biological Sciences, Bangalore, told HT. “Now the time scale for developing better drugs could be just two years.’’ Many of the syndrome’s symptoms like learning disabilities and childhood epilepsy stem from over activation of one of the brain’s chief network managers. Reducing its activation by half, fixed multiple defects in the mice, like restoring normal body growth and reducing seizures.
“Insights from this study suggest novel therapeutic approaches, not only for Fragile X but also for autism and mental retardation of unknown origin,” said Mark Bear, Director of the Picower Institute, in a statement. The team included B. S. Shankaranarayna Rao of the National Institute of Mental Health and Neuroscience.
Chattarji’s team is now experimenting on treating emotional symptoms of autism in mice, using potential drugs. Just last month, Indian-origin researcher Vivek Rangnekar said his team in the UK had created mice resistant to aggressive types of cancer.
Reshma Patil , Hindustan Times © Copyright 2007 Hindustan Times
District Revenue Officer A. Suganthi inaugurated an orientation workshop on “Creation of Database on Disabilities — Tamil Nadu”, organised by the Madhuram Narayanan Centre for Exceptional Children (MNCEC) at the Collectorate here on Thursday.
Ms. Suganthi stressed the need for simplifying the procedures to enable the physically and mentally challenged persons to get benefits of the Government schemes on time. She said that every fifth child in the district was either physically or mentally challenged, while in some areas, every second child was physically or mentally challenged.
Almost 98 per cent coverage had been achieved in the enumeration of the physically and mentally challenged people in the district. The success of the rehabilitation programmes lay in the genuineness of the data, she said.
Jaya Krishnaswamy, managing director of the MNCEC, said that the State Commissioner of the Disabled had entrusted the organisation with the task of conducting a survey of the disabled and creating a database on the disability in the State. She requested the enumerators to ensure total coverage of the physically and mentally challenged persons in the district, and provide a proper database.
She wanted them to visit every house and properly enter the details on the questionnaire. Even if there was no physically or mentally challenged person in a house, that fact should also be entered into the database.
Ananditha Mukherjee, special educator, MNCEC, said it was important to create a database for it would facilitate the dissemination of services to the disabled.
Priya Rajkumar, principal of MNCEC, said that this was the first time in the country that a comprehensive survey was undertaken and a database on disability created.
During the survey, the centre would identify the physically and mentally challenged persons, and assess the type of disabilities in order to facilitate the Government to extend support to them.
Special Correspondent © Copyright 2000 - 2007 The Hindu
OBSERVE YOUR CHILD Is he reaching normal milestones like crawling at the appropriate time?
About 10 per cent of all children are born with some kind of impairment, at some level — from mild to severe. Some of it can be prevented by measures like vaccination of all infants and adolescent girls for German measles (Vilaiyattu Ammai in Tamil), which is supposedly responsible for over 35 per cent of mental impairment and associated problems, protecting the carrying mother from exposure to other infections too, keeping off consanguineous marriages, staying off crippling medicines like thalidomide and ensuring proper nutrition.
In other cases, mental impairment occurs by genetic factors beyond our control.
Carrying mothers must be taught to recognise early signs of mental impairment, so that early intervention can be undertaken to offset the disability. The earlier, the better. By age two, 60 per cent of the child's neural pathways are set. Between age two and six, another 20 per cent of the process gets completed. "So, when we work with babies aged between zero to two, there is a big possibility of non-damaged nerve cells taking over the role of the damaged neural cells which allow the child to develop almost normally," says Jaya Krishnaswamy, programme coordinator, Madhuram Narayanan Centre for Exceptional Children (MNC), which has been working with mentally impaired children.
So, what are the things we need to watch out for? To begin with, demand to be shown your child's APGAR (Appearance, Pulse rate, Grimace or expression, Action and Respiration) score evaluated by paediatricians at childbirth. Each aspect is allotted 10 points. A score in the whereabouts of 40 is pending risk, below that indicates a definite possibility of the child being affected, warns Jaya Krishnaswamy.
As the days progress, a mother should observe how the child plays, reacts to touch, etc. She also needs to check if her baby is reaching normal milestones like crawling and eye contact at the appropriate time. "Keep a check on the baby's motor skills (kicking limbs, turning on its back, rolling and crawling), self-help skills (chewing, holding the feeding bottle, toilet indication and hunger indication), language skills (sound recognition, turning when its name is called), cognitive skills (understanding cause and effect of activities) and socialisation (differentiating unfamiliar faces from familiar faces)," elaborates Special educator Sumathi. "If there is a delay, ask your child's paediatrician why your child has not done the appropriate action," advises Jaya Krishnaswamy.
Sometimes doctors wave away these worries asking the mother not to be impatient. "Mothers must then ask the right questions like, why the baby has not done so, how long she is to wait, and what exactly is acceptable," she adds. Do not fight shy of asking these questions. After all, it is your child's normal development at stake. Counselling the pregnant mother on just eating well and taking her vaccines will not do. Expectant mothers should also be made familiar with the baby's crucial, early years of development.
Hema Vijay © Copyright 2000 - 2007 The Hindu
There were a few impromptu deviations from the script when animated children enacted the fox-and-crow fable at the Madhuram Narayanan Centre for Exceptional Children on Friday.
The `crow', which made away with a `vadai' from the old woman, politely returned the goody, before off-stage prompts restored the skit to its original plot. The `crow' — now perched on a tree with the `vadai' in its beak — turns overfriendly once again, happily handing over the `vadai' to the `wily fox' even before being asked to sing a song.
Each twist provided to the tale by the children drew enthusiastic approval from an audience that comprised parents, child development trainers and well-wishers.
Enjoying these `creative violations of script' was Amelia, a British disability volunteer, who directed the skit.
Amelia hails from the Alden family in U.K. under whose coordination scores of children at Oxford's Dragon School have been contributing toys and other gifts for their peers here.
The one-hour show by the special children included games, music and dance. The programmes marked the graduation of 22 special children who completed at least four years of development training at the institution. While eight children will move to mainstream schools, the rest will enter the fold of institutions for further special education.
"The entertainment is actually an extension of the mainstreaming interventions at the centre," said Jaya Krishnaswamy, coordinator. The programmes involved an array of functions ranging from memory recall to the ability to mingle in a group.
According to Vimala Kannan, principal, the Centre also organised outings, sports and arts meets and yoga to facilitate social integration.
In fact, the preparatory for the mainstreaming process begins almost a year in advance and involves mentoring the parents. The Centre also sensitises teachers of mainstream schools on the disability issue and trains them to manage special children. However, very few schools in the city have a total understanding of the issue, said Ms. Krishnaswamy.
Each year, at least 20 children, out of an estimated 120 special children under the fold, would have improved enough to move to other institutions. The flip side, as Ms. Krishnaswamy, pointed out was that 20 out of 100 children would require lifelong custodial care. "The rehabilitation of this category is a shared responsibility of Government and NGOs."
What sets apart the mainstreaming effort at the Centre is the thrust on early intervention (0-6 years).
The programmes are structured, indigenous and easy to replicate. The Centre also insists on the involvement of parents through a child's tenure with the institution.
S. Anandalakshmy, child development consultant and Bala Mandir Research Foundation president, was chief guest.
M. Dinesh Varma © Copyright 2000 - 2007 The Hindu
Three-day workshop calls for systematic and vocational training
Community involvement at all levels and systematic vocational training could create a barrier-free environment for the mentally challenged and others with multiple disabilities: This was the crux of a three-day workshop that came to an end here on Wednesday.
It was conducted under the aegis of the office of State Commissioner for Disabled by State Resource and Training Centre and Arivalayam School for Mentally Retarded at BHEL Township.
The workshop saw participants from various non-governmental organisations, panchayat presidents, village leaders, primary school teachers and parents of physically and mentally challenged children.
P. Jeyachandran, director of Vijay Human Services, Chennai, chaired the workshop.
The first day saw a discussion on `Community participation in care and management of persons with mental retardation and multiple disabilities.' Addressing the NGOs and panchayat presidents, Prof. Jeyachandran said that village communities could be effective informal counselling and training centres for the children and a systematic support from villagers would bolster rehabilitation.
On the second day, resource persons from other NGOs interacted with parents and special educators of various homes for the physically challenged.
Jaya Krishnaswamy, programme coordinator of Madhuram Narayanan Centre for Exceptional Children, Chennai, said that Tiruchi has set a valuable precedence of what the organisations could achieve in extending mutual cooperation. Frequent thought sharing among organisations would support early intervention programme and equip all of them with sound knowledge at all levels of disabilities, she said. The parents interacted with Prof. Jeyachandran on the third day and got to learn the importance of continuing training at home to sustain development of their children. Teachers from special schools including Asha Deepam, Udaya, Intact Special School, SOCSEAD and Spastic Society of Tiruchi, attended the programme.
Staff Reporter © Copyright 2000 - 2007 The Hindu
The annual sports day of Madhuram Narayanan Centre for Exceptional Children in T. Nagar on Friday last had participants from nearby mainstream schools Bala Mandir and the Little Flower Convent School for hearing and visually impaired children.
The event drew 100 participants, including from the Maithree group of schools begun by parents of children who underwent early intervention programme at MNC. The event began with a march past and lighting of the torch. Cricketer Tinu Yohannan took the salute and distributed the prizes.
Among the events were competitions such as sack race that included a special child from MNC and another child from Bala Mandir.
In the running race, a hearing-impaired girl child competed with a boy from MNC. The idea of including mainstream school children is to ensure that the special children do not miss out on opportunities offered to other children, said principal Vimala Kannan.
Over the past years, the school has developed outreach programmes to ensure that children who graduate from the 0-6 age group training programme continue their training even after leaving school. Special educators keep in touch with the students and parents to ensure that the children are trained to be self-dependent, said Jaya Krishnaswamy, who designs programmes for the children.
Special educators Anindita Mukherjee and Sumithra Manoharan chronicle the progress of the children and hold workshops for parents of the special children and teachers from mainstream schools.
This year the school will send 10 children into mainstream schools - mostly Montessori schools.
Last year, seven children were sent to regular schools.
Staff Reporter © Copyright 2000 - 2007 The Hindu