Thursday, 29 December 2011

Autism; - It may be all in the wiring pattern.

As evidenced by my book 'Brain Injured Children. - Tapping the Potential Within.' I have long argued for the role of abnormal brain connectivity in autism, - whether that abnormal connectivity is caused by the expression of specific genes, or by brain injury.  The point i

Studying a rare disorder known as tuberous sclerosis complex (TSC), researchers at Children's Hospital Boston add to a growing body of evidence suggesting that autism spectrum disorders, which affect 25 to 50 percent of TSC patients, result from a miswiring of connections in the developing brain, leading to improper information flow. The finding may also help explain why many people with TSC have seizures and intellectual disabilities. Findings were published online in Nature Neuroscience.

TSC causes benign tumors throughout the body, including the brain. But patients with TSC may have autism, epilepsy or intellectual disabilities even in the absence of these growths. Now, researchers led by Mustafa Sahin, MD, PhD, of Children's Department of Neurology, provide evidence that mutations in one of the TSC's causative genes, known as TSC2, prevent growing nerve fibers (axons) from finding their proper destinations in the developing brain.

Studying a well-characterized axon route – between the eye's retina and the visual area of the brain – Sahin and colleagues showed that when mouse neurons were deficient in TSC2, their axons failed to land in the right places. Further investigation showed that the axons' tips, known as "growth cones," did not respond to navigation cues from a group of molecules called ephrins. "Normally ephrins cause growth cones to collapse in neurons, but in tuberous sclerosis the axons don't heed these repulsive cues, so keep growing," says Sahin, the study's senior investigator.

Additional experiments indicated that the loss of responsiveness to ephrin signals resulted from activation of a molecular pathway called mTOR, whose activity increased when neurons were deficient in TSC2. Axon tracing in the mice showed that many axons originating in the retina were not mapping to the expected part of the brain.

Although the study looked only at retinal connections to the brain, the researchers believe their findings may have general relevance for the organization of the developing brain. Scientists speculate that in autism, wiring may be abnormal in the areas of the brain involved in social cognition.
"People have started to look at autism as a developmental disconnection syndrome – there are either too many connections or too few connections between different parts of the brain," says Sahin. "In the mouse models, we're seeing an exuberance of connections, consistent with the idea that autism may involve a sensory overload, and/or a lack of filtering of information."

Sahin hopes that the brain's miswiring can be corrected by drugs targeting the molecular pathways that cause it. The mTOR pathway is emerging as central to various kinds of axon abnormalities, and drugs inhibiting mTOR has already been approved by the FDA. For example, one mTOR inhibitor, rapamycin, is currently used mainly to prevent organ rejection in transplant patients, and Sahin plans to launch a clinical trial of a rapamycin-like drug in approximately 50 patients with TSC later this year, to see if the drug improves neurocognition, autism and seizures.

In 2008, Sahin and colleagues published related research in Genes & Development showing that when TSC1 and TSC2 are inactivated, brain cells grow more than one axon – an abnormal configuration that exacerbates abnormal brain connectivity. The mTOR pathway was, again, shown to be involved, and when it was inhibited with rapamycin, neurons grew normally, sprouting just one axon.

Supporting the mouse data, a study by Sahin and his colleague Simon Warfield, PhD, in the Computational Radiology Laboratory at Children's, examined the brains of 10 patients with TSC, 7 of whom also had autism or developmental delay, and 6 unaffected controls. Using an advanced kind of MRI imaging called diffusion tensor imaging, they documented disorganized and structurally abnormal tracts of axons in the TSC group, particularly in the visual and social cognition areas of the brain (see image). The axons also were poorly myelinated – their fatty coating, which helps axons conduct electrical signals, was compromised. (In other studies, done in collaboration with David Kwiatkowski at Brigham and Women's Hospital, giving rapamycin normalized myelination in mice.)

Sahin has also been studying additional genes previously found to be deleted or duplicated in patients with autism, and finding that deletion of some of them causes neurons to produce multiple axons – an abnormality that, again, appears to be reversed with rapamycin.

"Many of the genes implicated in autism may possibly converge on a few common pathways controlling the wiring of nerve cells," says Sahin. "Rare genetic disorders like TSC are providing us with vital clues about brain mechanisms leading to autism spectrum disorders. Understanding the neurobiology of these disorders is likely to lead to new treatment options not only for TSC patients, but also for patients with other neurodevelopmental diseases caused by defective myelination and connectivity, such as autism, epilepsy and intellectual disability."

The point is that we have evidence that the brain can be encouraged to change its wiring pattern through being exposed to appropriate stimulation from the environment.  This is what the Snowdrop programme is designed to do, - to provide the appropriate environmental conditions to encourage the brain to respond by changing its wiring structure.

Friday, 23 December 2011

The Importance of Tummy Time.

When you consider the size of a newborn’s head compared to the rest of his tiny body and add the fact that for many months after birth his muscle strength is low, you can see why spending time on his tummy can be frustrating.  This is even more so for our babies who have developmental disabilities which bring additional problems with regard to muscle tone, coordination and sometimes hydrocephalus.
Nowadays we also have a fear of Sudden Infant Death Syndrome, which quite rightly keeps babies on their backs for a huge amount of time.  However, this does have developmental drawbacks because in terms of mobility development, when a baby is on his back, he is upside down. 

Tummy time: strength, head shape, and smarts
Placing a baby on his tummy not only gives his neck muscles a workout, it strengthens the torso and provides him with more reaching and looking practice. That’s a big boost for development; in fact, researchers have seen that more tummy time correlates to better motor skills in babies. Not only that, but, amazingly, encouraging motor skills is also known to help babies with social development, since the stimulation to motor pathways in the brain seems to encourage growth in other regions as well.  In other words, tummy time isn’t just a physical workout — it’s a boost to other areas of development too.
Seeing the world belly-down and head up also makes it easier for your baby to correlate the sounds in his surroundings with their exact location (rather than being stuck looking at the ceiling or seeing things upside-down all the time). That’s also why carrying your baby is good for the brain because it does not block his ability to turn and locate sounds as say a car seat would.

When and how much?
Most authorities agree that around two to four weeks after birth is a good window to start tummy time. Remember, at this point your baby and his large cranium are fighting an uphill gravity battle, so don’t be surprised if you don’t get far with the exercise, especially if your little one has developmental problems. Try once a day to start, and if it helps, (and if he is small enough),  place baby on your stomach (this counts) and talk to him whilst he does what could be all of a 30-second workout.  
From there, tummy time will grow in length. Recommendations range from trying for 30 minutes a day or several stints of five to 10 minutes, to a looser goal of whenever possible. But many babies don’t enjoy the exercise until they get stronger (around four months of age). Within a month or two after that, the belly becomes one of their favorite positions because it allows them to see, reach, and play more easily.  All of this will take longer with a child with say cerebral palsy because of the aforementioned difficulties which are also working against them, but keep trying, - start small and second by second work the time so that he is spending longer and longer on his tummy.

Tummy time how-to
If your baby is just starting out, you can roll up a receiving blanket and put it high on his chest, under the armpits, but don't place him so high that it restricts his movement.  Instead of plopping your baby down directly on his tummy (where he’s not used to being), start by lying him on the floor on his back. Look at him, give him a smile, and make contact first. Tell him something like: “I’m going to help you roll to your belly, okay?” (With repetition, he’ll know what’s about to happen) and roll him from the hips gently. If his arm gets stuck underneath him, lift up the hip on the same side of his body to allow him to pull his arm out. The idea is to let your baby participate in getting into the position so he’s practicing the movements and feeling more in control, instead of having you simply stick him there.
Once your baby is on his belly, get down on the floor in front of him to talk.
Put one or two toys within reaching distance or a mirror close up so he can see himself.
Once your baby can lift his head enough to see in front of him, one of his favorite things to look at might be a book of faces. Get an accordion-style baby faces book with clear, large photographs.
Use a comfortable but flat mat without too much padding so he has more control over his arms.
Your best bet is to try tummy time when your baby is fed, rested, and ready to play. His tolerance for frustration will be higher when he’s in a good mood.
Just because your baby is grunting and making noises, or kicking and struggling a bit, it doesn’t mean you have to rescue him. It’s a difficult exercise for babies, so sometimes their noises just signal effort. But when your baby truly seems unhappy or starts to cry, roll him over to his back and scoop him up to a more familiar place.
Remember that since it’s an unfamiliar position nowadays, it takes a lot of practice and repetition for some babies to like being on their bellies. But even a two-minute session counts, and it’s something to build on. Keep at it, and you’ll see your baby’s comfort, and even enjoyment, of tummy time grow.
The developmental consequences of tummy time is the development of crawling, which has profound knock - on effects upon the development of the visual system and upon cognitive development, so keep trying, but also try to make it fun.

Thursday, 22 December 2011

How Snowdrop was formed.

My name is Andrew Brereton and I was the father of a child who suffered with profound brain injuries, which caused a mixture of symptoms, - some of quadriplegic cerebral palsy and some of autism, although neither of those diagnoses do justice to the true nature and severity of his brain injuries, -suffice it to say that he was described as being in the worst 5% of possible injuries! Unfortunately, Daniel passed away eight years ago, suffering a series of brainstem strokes. We always knew that for someone with his level of disability, the length of his life would be severely limited, but unfortunately, knowing that something is going to hurt, doesn't actually stop it hurting when it happens!

Daniel was born at the North Staffordshire Maternity Hospital in Stoke –On – Trent on the 4th September 1987 and within a few short weeks was diagnosed with cerebral palsy. We were warned by the paediatrician that the fact he was able to make such an early diagnosis indicated a high degree of severity of the condition. – He was not wrong and within a few weeks it became clear that I would be forced to give up my work as a chemist in the ceramics industry, in order to help my wife, Janet look after him. - Daniel rarely slept, he could stay awake for days and nights on end. This was an impossible situation for my wife to deal with alone and soon she was struggling to cope, whilst I went out to work.

Although in the early months of Daniel’s life, I was largely at home, I became increasingly interested in Daniel's problems and in human cognitive processes, so I decided to enrol for a university degree in psychology / child development at our local college of higher education, which is part of Manchester University. The structure of my chosen courses meant that I only had to be on campus part of the time, so I was still largely available to help with Daniel's care. Three years later I passed my degree with upper second class honours, my final dissertation being on the subject of 'Programmes of rehabilitation and their effects upon brain - injured children and their families.'

The three years of my degree studies paid off in more than one way, - not only did they foster in me a greater understanding of the difficulties Daniel faced, they also highlighted some useful techniques which we could employ in treating some of those difficulties; some of these techniques really had an impact upon his quality of life. My success in my studies also further fuelled my interest in this field and so I enrolled on further courses, eventually gaining post graduate qualifications in ‘child development,’ 'language and communication impairments in children,' and ultimately an MSc based in neuroscience and child development. I was also fortunate to be involved in several research projects such as the construction of neural networks to mimic cognitive processes in children, the design and employment of sociocultural learning programmes with children who experience learning difficulties and the design and employment of various communication therapies for children who experience language and communication difficulties.

My studies at university also opened our eyes to alternative therapeutic interventions which were available and consequently, over time, we not only travelled the globe to seek help for Daniel's difficulties from these approaches, but I was given the opportunity to study at various clinics. We studied and employed alternatives at clinics in the UK and internationally. Some of these approaches we found useful and productive, - others we did not. In fact, more accurately, I would say we found some techniques within most approaches to be beneficial, whilst finding many other techniques within each approach to be of no benefit. We also found the intensive philosophy of some alternatives to be detrimental to Daniel and to us as a family. I guess what I am saying is that there is an element of truth in all approaches, but no one approach has a monopoly on the facts!
Also, as we discovered, there are also people out there who are proposing preposterous, easily disproveable theories of brain function / development; - people who are not qualified to be doing what they are doing and people who are charging unjustifiable amounts of money for their preposterous, underqualified theories.

Our employment of many of these alternative approaches created a great deal of hostility within the ranks of the medical professionals who treated Daniel and over the years of his life we were subjected to a constant tirade of enmity. We arrived at the conclusion that this was as a consequence of their perceived loss of powers; - they seemed to think that any approach which we chose which was out of their circle of control, was a direct threat to their perceived competence, and they acted accordingly towards us. In truth, all we were trying to achieve was greater quality of life for Daniel by enhancing his developmental prospects. We found it amazing that we were subject to so much criticism for seeking answers to Daniel’s difficulties from a group of people who possessed no answers to those problems themselves.

Although throughout his lifetime, Daniel remained very severely handicapped, our efforts at helping him were far from fruitless. At birth, Daniel was cortically blind and deaf. This meant that although his eyes and ears were working normally, his brain was not interpreting the sensory information, which they were collecting. However gradually, through utilising our new knowledge, we were able to restore both his vision and his hearing. This may sound small beer in the global picture of overwhelming global handicap, but for Daniel it meant that he could now see his Mum and Dad; - that he could see, hear and begin to interact with his two younger brothers. – This revolutionised Daniel’s whole being.

Sadly as I say, Daniel passed away eight years ago. He had sustained injuries in his lower brainstem which were life threatening and which we knew could take him at any moment in his life. The fact that we managed to avoid this for 16 years is testament to what can be achieved through hard work. We miss him terribly and there will always be a massive hole in our lives. How do you get over the death of a child?  However, the snowball of enthusiasm and interest, which he created in me, - interest in helping to solve the problems many children face, rolls on.

Using all of the knowledge, which my son passed to me, (despite all my qualifications and research experience, he remains my most astute tutor), I have established 'Snowdrop.' It is in its infancy, but it aims to take all the knowledge and experience amassed over the years and to utilise it for the benefit of children and families like ourselves. Snowdrop provides programmes of neuroscience based therapy for children who experience a wide range of developmental disabilities. Those problems may express themselves as more global difficulties such as cerebral palsy or autism, or more specific difficulties such as dyslexia, dyspraxia, or specific language impairment. We also treat children who have a wide range of genetic disorders.

Treatment is carried out by the family in the child's own home. Our ‘programmes’ are variable in their intensity, depending upon the particular problems displayed by the child and are designed to fit in with what the family can practicably achieve without placing them under an undue burden of stress. We believe that the best environment for development to have a chance of taking place is one where both child and family are happily motivated and jointly focussed on the same objectives.

Although Snowdrop is based in the UK, in it's short life so far, it is already having an appeal internationally and we have children on our books from all over the world.  All we want to do is to be of service to children and their families. In this way, my son's life and everything he taught me about brain injury and the developmental problems children face will have not been wasted.

Please peruse our website, which can be found on

I have also published a book titled, 'Brain Injured Children. - Tapping the Potential Within.' This can be accessed through this link and through the website.

Monday, 5 December 2011

Can a Child Have Both Cerebral Palsy and Autism?

For me, the answer has to be, 'Yes,' I have seen many children who have mixed symptoms of both. There are many roads to the 'destination' of autism.  There is increasing evidence that one such road is genetic, - the gene(s) in expressing itself / themselves create an anomaly in brain development,- (the evidence points to the adoption of an abnormal wiring pattern), which produces the symptoms of autism. Another road is now thought to be methylation difficulties, another through oxygen starvation, etc. All these differing 'roads' lead to brain dysfunction, which produces what we observe as autism. So, autism consists of a set of symptoms, (distorted sensory perception, faulure of socialisation, communication and imagination, stereotypical behaviours, etc). - These symptoms, all caused by brain dysfunction, are the way in which the condition we call 'autism' expresses itself, - so autism is an expression of brain dysfunction.
There are approximately one hundred billion neurons in the human brain, each cell having the potential to create ten thousand connections to other cells to form complex groupings of connections known as neural networks. This is an unbelievably complex operating system and when it becomes injured, the pattern of injury is therefore like a fingerprint, - unique to the child. Some children may have common symptoms, but no two children will display exactly the same problems. - This is why autism is a 'spectrum disorder,' with a child at one end of the autistic spectrum, displaying totally different problems to a child at the other end of the autistic spectrum.

We have already established that autism is caused by brain dysfunction, - well there are many other problems, which are also caused by brain dysfunction, one of which is cerebral palsy. 
CP can be caused by oxygen starvation, genetics (rarely), drug abuse, infection, jaundice, malnutrition, or one of many other causes. So it is brain dysfunction, which produces the sets of symptoms we know as CP just as it is brain dysfunction, which produces the sets of symptoms we know as autism.
So it is correct to say that both autism and CP are caused by brain dysfunction, - indeed, they are both 'expressions' of brain dysfunction, or if you like, 'brain injury.'
Now, the more severe and widespread the brain dysfunction, the more symptoms, (or expressions) will be displayed. So whilst a child who has suffered only a moderate amount of damage to the neural networks of the brain might display the symptoms or EITHER autism OR cerebral palsy, (or some other expression), the child who has suffered more severe damage, may display multiple expressions! These might include some symptoms which are considered to be on the autistic spectrum, alongside some symptoms which are considered to fall within CP (or indeed any other expression of brain dysfunction, - there are many!).
So the answer is yes, I believe it is possible and not uncommon for a child to have a dual diagnosis of both autism and cerebral palsy. Does this mean they have two different conditions? No. They just suffer from severe brain dysfunction. At Snowdrop we provide programmes of rehabilitation for all types of and severity of brain injury