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Autism
Autistic spectrum
disorder
(ASD) is a genetic neurological disease. What we call autism include
very
diversed phenotypes. The diagnosis can not be based on a biochemical or
genetic
test because none are available. What you may remember from the Rain
Main are
actually among the most important criteria.
World Health
Organization (1993) diagnostic criteria can be summarized as
follows:
Abnormal development before
the age of 3 in at least one of the following areas: language,
reciprocal
social interactions, functional or symbolic play. Abnormalities in
communication means delay or lack of development of language or
alternative
modes of communication such as mime. It can include abnormal pitch,
stress,
intonation but the most striking features could be described as no need
to
communicate and stereotyped and repetitive language. This is connected
to what
is called lack of reciprocal social interaction, exemplified as failure
to make
eye contact, use facial expression and gesture, share interests and
emotions.
Also stereotyped patterns of behavior are not limited to speech but
could
manifest in adherence to routines and rituals, distress over changes in
small
details, repetitive mannerisms that can involve for example hand
flapping. Very
typical is intense focus of interest, especially preoccupation with
non-functional elements of toys such us their odor, feel of their
surface or
noise that they make.
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| Leo Kanner | Hans Asperger | Michael Rutter and Susan Folstein |
| Picture source:http://www.exploringautism.com/ | ||
Autism was first described as a distinct
condition in 1943 by Leo Kanner. A similar condition was then described
by Hans
Asperger in 1944 and is now called Asperger syndrome. Sex ratio
man:woman in
Asperger syndrome is 8:1, for autism is it 4:1. The frequency depends
on the
precise definition of autism but can be estimated as few in 10000. The
most
compelling evidence for a genetic basis
for autism comes from twin studies.
First such results were published in 1977 by Michael
Rutter and Susan Folstein. For
monozygotic twins, which are genetically identical, the concordance
rate is
60-90% and for dizygotic twins it is 0-6%. Among the most often
chromosomal aberrations
are ones involving the region on chromosome 15 long arm described as
15q11-q13.
Interestingly exactly the same region is involved in Prader-Willi and
Angelman
syndrome which have some features in common with autism. There are many
candidate
genes for autism, among those NLGN3 and
NLGN4.
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IF
YOU WANT TO KNOW MORE... BIBLIOGRAPHY |
| http://www.exploringautism.com/ Polleux, F. and Lauder, J.M. (2004) Toward a developmental neurobiology of autism. Ment. Retard. Dev. Disabil. Res. Rev. 10, 303–317 |
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