Explaining child disorders


Causes of autism

The causes and etiology of autism arereasons for this and its effects are
areas of debate and controversy; therestill unknown.
is currently no consensus, andResearch has not yet established exactly
researchers are studying a wide range ofwhat is specific to autism and what may
possible genetic and environmentalbe seen in other disorders however.
causes. Since the way autism manifestsIndividuals with autism are also far
is different for each person, there aremore likely to develop epilepsy than
likely multiple "causes" that interactwould otherwise be expected (estimated
with each other in subtle and complex10-30% incidence).
ways, and thus give slightly differingGenetic component
outcomes in each individual. TwoGenetic influence comprises a
environmental theories include thesignificant aspect of research in the
impact of vaccines on the immune systemcauses of autism. A large database
(of which a statistically significantshowing theoretical links between autism
link has never been found despite manyand genetic loci summarises research
attempts; see the vaccine theory for aindicating that the genetic influence
more extensive treatment) and a moremay extend to every human chromosome. It
recent theory relating autism to highhas been observed in one twin-study in
levels of television viewing whileBritain that there was about a 60%
young. A correlation has also been foundconcordance rate for autism in
between autism and the mercury emittedmonozygotic (identical) twins, while
from coal power plants, though thedizygotic (non-identical) twins and
implications of this correlation isother siblings comparatively exhibited
uncertain. Mercury measurements of hairabout 4% concordance rates. Some
samples from autistic children's firstresearch posits that the chances that an
haircuts were significantly lower than aidentical twin of an autistic person
matched group of normal children,will also be autistic are 85-90%. The
declining as measures of severityincreased probabilities of siblings
increased.having autism has been calculated at
Research claims also link autism withabout 35-fold more than normal.
abnormal blood vessel function, andAccompanying impairments are also a
oxidative stress. This line of researchcommon feature of autism. Some people
may lead to new medical therapies.with autism also have gastrointestinal,
Physiology and neurologyimmunological or neurological symptoms
Autism appears to involve a greaterin addition to behavioral impairments.
amount of the brain than previouslyThese associated complexes have also
thought. A study of 112 children (56lead to the search for specific genetic
with autism and 56 without), publishedconnections and helped to focus on
in the Journal of Child Neuropsychology,reasonable genetic implications.
found those with autism to have moreSince genes provide the information for
problems with complex tasks, such asprocesses and structure at the level of
tying their shoelaces or writing, whichthe cell and its components during the
suggests that many areas of the braingrowth and development of a human as
are involved. Children with autismwell as maintenance during life, gene
performed simple tasks as well as ormutations (altered versions) and
better than those without. In tests ofdeletions (complete absence of genetic
visual and spatial skills, autisticmaterial) and possibly extra copies of
children did well at finding smallgenes 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'sgene fails to perform properly, then
Waldo" pictures). However, they found itcells, proteins, enzymes and other
difficult to tell the difference betweencrucial aspects of normal function may
similar-looking people. Children withbe significantly altered and operate
autism tended to do well in spelling andincorrectly. Deletions could mean the
grammar, but found it much morecomplete absence of a sequence of events
difficult to understand complex speech,due to missing proteins or cell
such as idioms or similes when thecomponents for example. These genetic
meaning of the phrase is figurative.alterations and deletions will simply
They would, for example, not understandbring about a changed structure or
that "He kicked the bucket" meantprocess which effects a great many other
someone had died, or were likely toneeded 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 theand the incidence of autism. During the
Pittsburgh School of Medicine, is thatlifetime of a person, gene mutations and
"These findings show that you cannotdeletions may be environmentally
compartmentalize autism. It's much moretriggered or exacerbated. Conversely, it
complex.”may also be that environment will not be
The research from this perspective has aa factor and nothing will change the
number of implications:autism characteristics. For autism, the
Autism is more than likely a globalanswer to these possible explanations is
disorder which affects how the brainstill being researched and there is
processes the information it receives,evidence that both may be true simply
while complex information tends to makebecause there is more than one way a
this more readily apparent.person may develop autism.
Neurological ‘wiring’ in people withDeletions and Mutations
autism manifest abnormalities in theDeleted genes have been noted as a
areas of the brain that communicate withprobable influence or cause in autism.
each other.By locating specific missing genetic
Observed abnormalities provide amaterial the significance may be that
reasonable explanation for why childrenspecific genetic sites for autism
with autism have problems with complexcontrolling or causing autism (autism
tasks which require multiple areas ofsusceptibility alleles) may be located
the brain to work together; autisticprecisely. Another significant aspect of
people tend to do better in tasks thatthis research is that these deletions of
only require one region of the brain.genetic material indicate that autism
The causes of autism are possibly moremay be established in some cases during
pervasive than previously believed; formeiosis (error-prone meiosis model) and
example, more areas of the brain arethis places the genesis of autism in
affected than just those involvingsome 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 disorderdeletions are a cause or consequence of
of social interaction; research must nowautism-susceptibility loci located
take into account non-social aspects.elsewhere in the chromosomes.
A possible explanation for theGene mutations may mean a gene does not
characteristics of the syndrome is afunction at all or does not function in
variation in the way the brain itselfthe normal way. Since genes direct how
reacts to sensory input and how parts ofthe body grows and develops, mutations,
the brain then handle the information.like deletions, will effect a person at
An electroencephalographic (EEG) studythe most basic levels.
of 36 adults (half of whom had autism)Mutation and deletion effects have been
at Washington University in St. Louisdelineated in numerous research
found that adults with autism showpublications.
differences in the manner in whichCorrelated characteristics include
neural activity is coordinated. Theglobal developmental delay, mild to
implication seems to be that there issevere delay of speech, social
poor internal communication betweencommunication 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 wereGene interaction may also complicate the
abnormal patterns in the way the braincauses leading to multiple genetic
cells were connected in the temporalorigins of autism, In a cascade like
lobe of the brain. (The temporal lobeeffect, when a gene loci is altered or
deals with language.) These abnormalomitted, others are effected due to
patterns would seem to indicatechange in interaction between genes and
inefficient and inconsistentor their functions.
communication inside the brain ofThough not present in all individuals
autistic people.with autism, these mutations and
Studies in neuropathology indicatedeletions 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 andgenetic architecture of the genome of
heavier and a larger than normal headautistic individuals and will help in
circumference is commonly noted.focusing future research.
In the limbic system, there is an excessOne practical aspect of this type of
of cells and they are too small. Theresearch may be the development of a
neurons themselves appear to betest that would confirm the autism
underdeveloped. Dendritic trees whichdiagnosis in children exhibiting
provide the basis for connectionssymptoms 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 areMirror neurons
widely affected. The anatomicA theory featuring mirror neurons states
differences correlate to the curtailmentthat autism may involve a dysfunction of
of development earlier than 30 weeksspecialized neurons in the brain that
gestation. In other words, theshould activate when observing other
development of the cells appears to havepeople. In typically-developing people,
stopped at some time before the 30ththese mirror neurons are thought to
week in uteroperhaps play a major part in social
An enlarged third ventricle of the brainlearning and general comprehension of
appears to accompany autism in those whothe actions of others.
are non-mentally retarded, but the



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