Syndromic autism: causes and pathogenetic pathways. [World J Pediatr. 2009] - PubMed resultOf course even if we abandon use of the term "autism" in quality clinical care and research it will remain tightly bound to service delivery. It will take decades to remove the concept from legal, reimbursement, educational and policy frameworks - and the slow, ponderous, archaic evolution of the DSM "classification" will keep it in psychiatry texts.... Genetic syndromes, defined mutations, and metabolic diseases account for less than 20% of autistic patients. Alterations of the neocortical excitatory/inhibitory balance and perturbations of interneurons' development represent the most probable pathogenetic mechanisms underlying the autistic phenotype in fragile X syndrome and tuberous sclerosis complex. Chromosomal abnormalities and potential candidate genes are strongly implicated in the disruption of neural connections, brain growth and synaptic/dendritic morphology. Metabolic and mitochondrial defects may have toxic effects on the brain cells, causing neuronal loss and altered modulation of neurotransmission systems...
Autism will be preceded, I hope, with the end of "Asperger's" - at least in scientific writing. "Asperger's" will join "the planet Pluto" in the netherworld of meaningless terms. Within 10 years "autism" should also be replaced with a classification of neurodevelopmental disorders (the neuroconnectopathies?)
It's not mere pedantics. Names are powerful. Names determine how we interpret research results, how we predict outcomes, and, above all, how we decide which therapies to try first, and how we assign services and support. More precise names for the the complex mix of neurologic injury and repair we currently call "autism" will mean less time wasted on ineffective treatments, quicker use of what works, better targeted research, and more creative thinking.
- Be the Best You can Be: diagnostic definition
- Be the Best You can Be: Controlling nerve cell connectivity - more developments
- Autism turns into Asperger's - how did that happen?
- Be the Best You can Be: Autism: the label given to a wide and diverse variety of neurodevelopmental disorders (May 2007)
- Be the Best You can Be: Autism no more -- the end of a diagnosis (Dec 2006)
- Be the Best You can Be: Psychiatric diagnoses: 200 years behind
- Be the Best You can Be: Very annoying: the diagnostic criteria for Asperger's are not all that useful (2005)
- Be the Best You can Be: A breakthrough in understanding the genetics of schizophrenia -- and perhaps of autism too