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