Autism, or autism spectrum disorder, is a neurological disorder in children showing deficiencies in communication and reciprocal social interactions, often accompanied by restricted or repetitive interests and behaviors.
Autism Spectrum Disorders include Autistic Disorder (sometimes called infantile autism or childhood autism), Asperger's Disorder and Atypical autism.
A recent study (AJHG, Nov2005) has demonstrated a link between between autism and the Engrailed 2 (EN2) gene, which may contribute to up to 40% of autism cases in the general population. EN2 is involved in normal neural development. Support for the Homeobox Transcription Factor Gene ENGRAILED 2 as an Autism Spectrum Disorder Susceptibility Locus ".....Together, these data provide further genetic evidence that EN2 might act as an ASD susceptibility locus, and they suggest that a risk allele that perturbs the spatial/temporal expression of EN2 could significantly alter normal brain development." (Am. J. Hum. Genet., 77:851-868, November 2005) (More? Neural Development)
The Radio National (Australia) program "All in the Mind" had a recent broadcast (Saturday 17 September 2005) on autism, Missing the Point! – The mysteries of Autism: Broadcast Transcript | MP3 Podcast
The following links are to autism information in online textbooks (NCBI Bookshelf) and the OMIM database within the National Library of Medicine.
GeneReviews Autism Overview
Neuroscience Homeotic Genes and Human Brain Development
Oline Mendelian Inheritence in Man OMIM - Autism | OMIM - Engrailed 2
Australia Autism Council of Australia
Australia Autism Spectrum Australia (Aspect)
Australia ABC Radio National "All in the Mind" (Saturday 17 September 2005) Missing the Point! – The mysteries of Autism: Broadcast Transcript | MP3 Podcast
Medical Journal of Australia Incidence of autism spectrum disorders in children in two Australian state
United Kingdom National Autistic Society
National Institute of Mental Health (USA)Autism Spectrum Disorders (Pervasive Developmental Disorders)
Homeobox Genes DataBase EN2
These developmental abnormalities usually involve only small DNA mutations affecting individual or a few genes, two exceptions are the major chromosomal abnormalities usualy trisomy; trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome) (also trisomy 9, 13, 15). Note that the occurance of chromosomal abnormalities also increases with increasing maternal age. There are many pamphlets providing information about prenatal diagnosis (see NSW State Health Publication Checking your baby's health before birth).
Relate to lifestyle, environment and nutrition. Some examples of this form of abnormality are the impact of excess alcohol on neural development (Fetal alcohol syndrome), viral infection (rubella) at a critical stage of development, inadequate dietry folate intake (neural tube defects), effects of prescription drugs (Thalidomide- limb development) and even maternal endocrine function (thyroid development).
In addition to these obvious maternally-derived abnormalities, there is growing evidence that the interuterine environment has a strong influence on later postnatal health. This theory is based on the early statistical analysis of disease/longevity in babies with low birth weights in England by Barker, and has been called the "Barker Hypothesis". (More? Barker Hypothesis)
Sudden Infant Death Syndrome (SIDS)
Malnutrition
Infection
Trauma
see also Normal Childhood Development
Each section of the notes covering early development and specific systems contain references to specific abnormalities (on Page 2 of each notes section). The best source for Australian statistical data is the Australian Institute of Health and Welfare National Perinatal Statistics Unit, UNSW which publishes "Congenital Malformations Australia" every 2 years. Be aware that some congenital abnormalities, by their nature, affect multiple systems. In the USA, the Center for Disease Control (CDC) keeps and publishes relevant statistical information. A very difficult issue in abnormal development are the many different Ethical implications.
This current page is a link to Normal and Abnormal Development and Population Data.
You should look at normal development. Development Notes
Alternatively, go on to look at Systematic Development of organs and tissues.
For those wanting to see dynamic processes of development (and have a reasonably quick connection) then the Movies pages are good for watching changes occur.
The study of human development has relied extensively on studying the process in other model animals. For those wanting to see the process of development in other species then the other embryos pages are a good start.
Home Page
Embryo stages
Fetal Dev
Dev Notes 1
Dev Notes 2
System Notes
Acknowledgements
Movies
Audio
Class Notes
Serial Images
K12 Students
Abnormal Development
Autism
Embryology in the News
Histology
Site Map
School of Med Sci
UNSW Medicine
University of NSW
UNSW Cell Biology
NCBI Books
Dev Biol (Gilbert)
Page under development (notice removed when complete).
How and why do things go wrong in development?
Abnormalities in human development can be due to many different maternal factors, this page gives a few starting points to look at this topic.
The page links to internal resources coving specific topics and also uses the online Merck Manuals, which cover this topic with some excellent short summaries.
Please email Dr Mark Hill if you wish to make a comment about this current project.