| The causes and etiology of autism are areas of | | | | accompany autism in those who are non-mentally |
| debate and controversy; there is currently no | | | | retarded, but the reasons for this and its effects |
| consensus, and researchers are studying a wide | | | | are still unknown. |
| range of possible genetic and environmental | | | | Research has not yet established exactly what is |
| causes. Since the way autism manifests is | | | | specific to autism and what may be seen in other |
| different for each person, there are likely multiple | | | | disorders however. |
| "causes" that interact with each other in subtle | | | | Individuals with autism are also far more likely to |
| and complex ways, and thus give slightly differing | | | | develop epilepsy than would otherwise be |
| outcomes in each individual. Two environmental | | | | expected (estimated 10-30% incidence). |
| theories include the impact of vaccines on the | | | | Genetic component |
| immune system (of which a statistically significant | | | | Genetic influence comprises a significant aspect of |
| link has never been found despite many | | | | research in the causes of autism. A large |
| attempts; see the vaccine theory for a more | | | | database showing theoretical links between autism |
| extensive treatment) and a more recent theory | | | | and genetic loci summarises research indicating |
| relating autism to high levels of television viewing | | | | that the genetic influence may extend to every |
| while young. A correlation has also been found | | | | human chromosome. It has been observed in one |
| between autism and the mercury emitted from | | | | twin-study in Britain that there was about a 60% |
| coal power plants, though the implications of this | | | | concordance rate for autism in monozygotic |
| correlation is uncertain. Mercury measurements of | | | | (identical) twins, while dizygotic (non-identical) twins |
| hair samples from autistic children's first haircuts | | | | and other siblings comparatively exhibited about |
| were significantly lower than a matched group of | | | | 4% concordance rates. Some research posits |
| normal children, declining as measures of severity | | | | that the chances that an identical twin of an |
| increased. | | | | autistic person will also be autistic are 85-90%. |
| Research claims also link autism with abnormal | | | | The increased probabilities of siblings having autism |
| blood vessel function, and oxidative stress. This | | | | has been calculated at about 35-fold more than |
| line of research may lead to new medical | | | | normal. |
| therapies. | | | | Accompanying impairments are also a common |
| Physiology and neurology | | | | feature of autism. Some people with autism also |
| Autism appears to involve a greater amount of | | | | have gastrointestinal, immunological or neurological |
| the brain than previously thought. A study of 112 | | | | symptoms in addition to behavioral impairments. |
| children (56 with autism and 56 without), published | | | | These associated complexes have also lead to |
| in the Journal of Child Neuropsychology, found | | | | the search for specific genetic connections and |
| those with autism to have more problems with | | | | helped to focus on reasonable genetic implications. |
| complex tasks, such as tying their shoelaces or | | | | Since genes provide the information for |
| writing, which suggests that many areas of the | | | | processes and structure at the level of the cell |
| brain are involved. Children with autism performed | | | | and its components during the growth and |
| simple tasks as well as or better than those | | | | development of a human as well as maintenance |
| without. In tests of visual and spatial skills, autistic | | | | during life, gene mutations (altered versions) and |
| children did well at finding small objects in complex | | | | deletions (complete absence of genetic material) |
| pictures (e.g., finding the character Waldo in | | | | and possibly extra copies of genes would mean |
| "Where's Waldo" pictures). However, they found it | | | | that the causes of autism begin very early. If a |
| difficult to tell the difference between | | | | mutated gene fails to perform properly, then cells, |
| similar-looking people. Children with autism tended | | | | proteins, enzymes and other crucial aspects of |
| to do well in spelling and grammar, but found it | | | | normal function may be significantly altered and |
| much more difficult to understand complex | | | | operate incorrectly. Deletions could mean the |
| speech, such as idioms or similes when the | | | | complete absence of a sequence of events due |
| meaning of the phrase is figurative. They would, | | | | to missing proteins or cell components for |
| for example, not understand that "He kicked the | | | | example. These genetic alterations and deletions |
| bucket" meant someone had died, or were likely | | | | will simply bring about a changed structure or |
| to actually hop if told to "hop to it". | | | | process which effects a great many other |
| The inference from this research, according to | | | | needed structures and processes. |
| researchers at the Pittsburgh School of Medicine, | | | | Another important aspect of research in genetic |
| is that "These findings show that you cannot | | | | factors is environmental effects and the incidence |
| compartmentalize autism. It's much more | | | | of autism. During the lifetime of a person, gene |
| complex.†| | | | mutations and deletions may be environmentally |
| The research from this perspective has a number | | | | triggered or exacerbated. Conversely, it may also |
| of implications: | | | | be that environment will not be a factor and |
| Autism is more than likely a global disorder which | | | | nothing will change the autism characteristics. For |
| affects how the brain processes the information it | | | | autism, the answer to these possible explanations |
| receives, while complex information tends to | | | | is still being researched and there is evidence that |
| make this more readily apparent. | | | | both may be true simply because there is more |
| Neurological ‘wiring’ in people | | | | than one way a person may develop autism. |
| with autism manifest abnormalities in the areas of | | | | Deletions and Mutations |
| the brain that communicate with each other. | | | | Deleted genes have been noted as a probable |
| Observed abnormalities provide a reasonable | | | | influence or cause in autism. By locating specific |
| explanation for why children with autism have | | | | missing genetic material the significance may be |
| problems with complex tasks which require | | | | that specific genetic sites for autism controlling or |
| multiple areas of the brain to work together; | | | | causing autism (autism susceptibility alleles) may |
| autistic people tend to do better in tasks that only | | | | be located precisely. Another significant aspect of |
| require one region of the brain. | | | | this research is that these deletions of genetic |
| The causes of autism are possibly more | | | | material indicate that autism may be established in |
| pervasive than previously believed; for example, | | | | some cases during meiosis (error-prone meiosis |
| more areas of the brain are affected than just | | | | model) and this places the genesis of autism in |
| those involving social interaction, communication, | | | | some at the very beginning of life. |
| interests, and imagination. | | | | One very important question in this line of |
| Autism may not be primarily a disorder of social | | | | research is whether or not gene deletions are a |
| interaction; research must now take into account | | | | cause or consequence of autism-susceptibility loci |
| non-social aspects. | | | | located elsewhere in the chromosomes. |
| A possible explanation for the characteristics of | | | | Gene mutations may mean a gene does not |
| the syndrome is a variation in the way the brain | | | | function at all or does not function in the normal |
| itself reacts to sensory input and how parts of | | | | way. Since genes direct how the body grows and |
| the brain then handle the information. An | | | | develops, mutations, like deletions, will effect a |
| electroencephalographic (EEG) study of 36 adults | | | | person at the most basic levels. |
| (half of whom had autism) at Washington | | | | Mutation and deletion effects have been |
| University in St. Louis found that adults with | | | | delineated in numerous research publications. |
| autism show differences in the manner in which | | | | Correlated characteristics include global |
| neural activity is coordinated. The implication | | | | developmental delay, mild to severe delay of |
| seems to be that there is poor internal | | | | speech, social communication disorders and |
| communication between different areas of the | | | | cognitive abilities, autistic like behaviour, high |
| brain. (Electroencephalographs, or EEGs, measure | | | | tolerance of pain, and repetitive mannerisms (e.g. |
| the activity of brain cells.) | | | | chewing or mouthing). |
| The study indicated that there were abnormal | | | | Gene interaction may also complicate the causes |
| patterns in the way the brain cells were | | | | leading to multiple genetic origins of autism, In a |
| connected in the temporal lobe of the brain. (The | | | | cascade like effect, when a gene loci is altered or |
| temporal lobe deals with language.) These | | | | omitted, others are effected due to change in |
| abnormal patterns would seem to indicate | | | | interaction between genes and/or their functions. |
| inefficient and inconsistent communication inside | | | | Though not present in all individuals with autism, |
| the brain of autistic people. | | | | these mutations and deletions hold potential to |
| Studies in neuropathology indicate abnormalities in | | | | point the way to more the genetic components |
| the amygdala, hippocampus, septum, mamillary | | | | of spectrum disorders. The research also |
| bodies, limbic system, and the cerebellum. | | | | advanced basic understanding in the genetic |
| Autistic brains are slightly larger and heavier and a | | | | architecture of the genome of autistic individuals |
| larger than normal head circumference is | | | | and will help in focusing future research. |
| commonly noted. | | | | One practical aspect of this type of research may |
| In the limbic system, there is an excess of cells | | | | be the development of a test that would confirm |
| and they are too small. The neurons themselves | | | | the autism diagnosis in children exhibiting |
| appear to be underdeveloped. Dendritic trees | | | | symptoms and identify families who carry genetic |
| which provide the basis for connections between | | | | defects that could be inherited by their children. |
| neurons are truncated (i.e. shortened). | | | | Mirror neurons |
| In the cerebellum, purkinje cells are widely | | | | A theory featuring mirror neurons states that |
| affected. The anatomic differences correlate to | | | | autism may involve a dysfunction of specialized |
| the curtailment of development earlier than 30 | | | | neurons in the brain that should activate when |
| weeks gestation. In other words, the | | | | observing other people. In typically-developing |
| development of the cells appears to have | | | | people, these mirror neurons are thought to |
| stopped at some time before the 30th week in | | | | perhaps play a major part in social learning and |
| utero | | | | general comprehension of the actions of others. |
| An enlarged third ventricle of the brain appears to | | | | |