Jamie, a boy who asked for his brain to be donated for research into autism
Autism is a lifelong condition associated with complex changes in the way the brain develops and functions. Autism impairs social interaction, causes problems with verbal and nonverbal communication, and leads to repetitive or severely limited activities and interests. Symptoms vary from very mild to severe—comprising a range of diagnoses known as Autism Spectrum Disorders.
Asperger’s syndrome is a term used for able individuals within the Autism Spectrum who show no evidence of early speech delay and cognitive abilities in the normal range. Individuals with Asperger's Syndrome will experience impairments in social behaviour and will usually have a range of repetitive behaviours and special circumscribed interests and activities.
Asperger’s syndrome is a term used for able individuals within the Autism Spectrum who show no evidence of early speech delay and cognitive abilities in the normal range. Individuals with Asperger's Syndrome will experience impairments in social behaviour and will usually have a range of repetitive behaviours and special circumscribed interests and activities
Every 20 minutes another family receives the news that their child has autism. 1 in 100 children is diagnosed with an autism spectrum condition, making it more common than childhood cancer, juvenile diabetes and paediatric AIDS combined. In the UK 500,000 individuals are affected by autism and tens of millions worldwide.
Some people with autism have significantly challenging behaviours. Most need specialist support and care. A distinction is made in assessing the needs of people with autism between those who have an IQ of less than 70, who are described as learning disabled, and those who have an IQ above 70 who are often described as high functioning.
Boys are four times more likely to be diagnosed with autism than girls and it affects people of all racial, ethnic and socio-economic backgrounds.
No one yet knows what causes autism and finding the cause, or causes, of autism is one of the most challenging areas of medical science. The absence of a clear understanding about what causes autism makes finding effective therapies very difficult.
It is now widely accepted by scientists that a predisposition to autism is inherited but it is not clear why a genetic predisposition affects some family members and not others. Autism is now in no way attributed, as it once was, to lack of affection in the child's mother.
Levels of autism appear to be rising but that may, at least in part, be the result of improved detection, identification and diagnosis. There are no biological tests to confirm a diagnosis of autism. Identification of the condition is still based solely on observed behaviours.
Research is also taking place to establish the part played, if any, by environmental factors either prenatally or after a child is born.
Related Developmental Conditions
The Brain Bank for Autism is committed to research into related developmental conditions since around 70% of people with an Autism Spectrum Disorder have co-morbid conditions and since features of autism are common in related conditions, such as Fragile X and Rett syndromes. It is scientifically appropriate to open the research to a broad, inclusive approach.
There is an increased but variable risk of epilepsy in people who have autism. It has been suggested that about a third of people who have autism will also develop epilepsy. So the Brain Bank for Autism and Related Developmental Research carries out research into how epilepsy is caused and its effects on brain functioning, as well as into autism.
Epilepsy is currently defined as a tendency to have recurrent seizures (sometimes called fits). A seizure is caused by a sudden burst of excess electrical activity in the brain, causing a temporary disruption in the normal message passing between brain cells. Experience during a seizure will depend on where epileptic activity begins in the brain and how widely and rapidly it spreads. For this reason, there are many different types of seizure and each person will experience epilepsy in a way that is unique to them.
Sometimes the reason epilepsy develops is clear. It could be because of brain damage caused by a difficult birth; a severe blow to the head; a stroke which starves the brain of oxygen; or an infection of the brain such as meningitis. Very occasionally the cause is a brain tumour. Epilepsy with a known cause is called ‘symptomatic’ epilepsy. For most people - six out of ten, in fact - there is no known cause and this is called ‘idiopathic’ epilepsy. There is no conclusive test for epilepsy, although tests such as the electroencephalogram (EEG) – which records brainwave patterns - can give doctors useful information.
Because epilepsy is currently defined as the tendency to have recurrent seizures, it is unusual to be diagnosed with epilepsy after only one seizure. In the UK around one in 20 people will have a single seizure at some point in their life, whereas one in 131 people have epilepsy.
At the moment there is no cure for epilepsy. However, with the right type and dosage of anti-epileptic medication, about 70 per cent of people with epilepsy could have their seizures completely controlled.
Fragile X syndrome
The Fragile X Society suggests that it is the most common inherited cause of intellectual impairment and the most common known genetic cause of autism. Fragile X is caused by just one gene, FMR1, which shuts down and is unable to produce a protein vital for normal brain function. Worldwide, 1 in 4000 males and 1 in 6000-8000 females have Fragile X.
The DNA test for Fragile X: A simple and accurate blood test is widely available.
Many children who have this syndrome experience learning problems and anxiety and there are many interventions which can help, but as yet, no way to reverse the syndrome.
Rett syndrome is a complex neurological disorder which is genetic in origin. It affects mainly girls, and only a very few boys. Although present at birth, it becomes more evident during the second year. People with Rett syndrome are profoundly and multiply disabled and highly dependent on others for their needs throughout their lives. There are substantial communication and mobility issues for people with Rett syndrome. Most will not speak and, by adulthood, only 50% will walk. However, there are increasing numbers of people with Rett syndrome who live until they are aged 50 and beyond.
At least one in every 10,000 females born has Rett syndrome. It is believed to be the second most common cause of severe and profound learning disability in girls. A large proportion of people who have Rett syndrome have a mutation, or fault, on the MECP2 gene on the X chromosome.
ADHD (attention deficit hyperactivity disorder)
ADHD becomes apparent in some children in the preschool and early school years. It is hard for these children to control their behaviour and/or to pay attention. It is estimated that between 3 and 5 per cent of children have ADHD.
Attention disorders often run in families, so there are likely to be genetic influences. Studies indicate that 25 per cent of close relatives in the families of children with ADHD also have it, whereas the incidence in the general population is about 5 per cent. Many studies of twins now show that a strong genetic influence exists in the disorder.
Research scientists are searching for a physical basis for attention deficit hyperactivity disorder. One part of the brain that scientists have focused on in their search is the frontal lobes of the brain. The frontal lobes function to help us to solve problems, plan ahead, understand the behaviour of others, and restrain our impulses.
Tuberous sclerosis is a rare, genetic disease that causes benign tumours to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system and results in a combination of symptoms including seizures, developmental delay, behavioural problems, skin abnormalities, and kidney disease. It affects about 1 to 2 million individuals worldwide, with an estimated prevalence of one in 6,000 newborns. It occurs in all races and ethnic groups, and in both genders. Approximately one-half to two-thirds of individuals with Tuberous Sclerosis have learning disabilities. Some individuals with the condition also have autism.
Scientists seek to increase our understanding of this condition by learning more about the TSC1 and TSC2 genes and the function of the proteins produced by these genes. They hope that knowledge gained from their current research will improve the genetic test for TSC and lead to new avenues of treatment and methods of prevention.
Dyslexia is a life-long specific learning difficulty which mainly affects the development of literacy and language-related skills.
It is characterised by difficulties with phonological processing, rapid naming, working memory, processing speed, and the automatic development of skills that may not match up to an individual’s other cognitive abilities.
Dyspraxia affects the way that the brain processes information, which results in messages not being properly or fully transmitted; it affects people's motor co-ordination, and the ability to organise or to plan.
Learning disabilities can affect all aspects of someone's life, from studying in school, to learning how to make a meal. People with autism can have different degrees of learning disability.