Autism spectrum disorder

Roberts EM, English PB, Grether JK, Windham GC, Somberg L, Wolff C (2007) Maternal residence near agricultural pesticide applications and autism spectrum disorders among children in the California Central Valley. Environ Health Perspect 115 1482-1489... 

Lord, C., Leventhal, B.L., and Cook, E.H. (2001). Quantifying the phenotype in autism spectrum disorders. Am J Med Genet (Neuropsychiatr Genet) 105 36-38. 

Neurobiology of affiliation implications for autism spectrum disorders... 

In human beings and most mammals, affiliation is an essential part of the life process, as it is necessary for both reproduction and survival. There are nonetheless instances in nature of profound lack of affiliative behavior. For example, children with autism spectrum disorders have significant difficulties in social skills, including lack of positive reinforcement from social interaction, poor eye gaze, impairment in social interactions, difficulties in attachment, and difficulties in nonverbal and, often, verbal communication. Deficits of this kind have led us to the study of the neurobiology underlying attachment and affiliation. 

Although social attachment and impairment of social behaviors are evident in a wide range of psychopathology, including childhood trauma, personality disorders, and anxiety disorders, an extensive review of this subject is beyond the scope of this chapter. The focus of this section will thus be primarily limited to the neurobiology of affiliation as it relates to autism spectrum disorders. 

Hollander, E., Novotny, S., Hanratty, M., Allen, A., Yafte, R., De Caria, e., Aronowitz, B., Moscovish, S. Oxytocin infusion reduces repetitive behaviors in adults with autism spectrum disorders. Neuropsychopharmacology (subm itted). 

Until the publication of Kolvin (1971), the disorders now subsumed under the label of autism spectrum disorders (Wing, 1996) or developmental pervasive disorders (American Psychiatric Association [APA], 1994) were referred to as childhood schizophrenia (Bender, 1969). Kolvin demonstrated different age-of-onset patterns between autism and EOS, which was the beginning of the notion that these disorders are separate nosological entities. Early-onset schizophrenia can be... 

Hollander, E., Kaplan, A., Cartwright, C., and Reichman, D. (2000) Venlafaxine in children, adolescents, and young adults with autism spectrum disorders an open retrospective clinical report. / Child Neural 15 132-135. 

Hollander, E., Dolgoff-Kaspar, R., Cartwright, C., Rawitt, R., and Novotny, S. (2000) Divalproex sodium in autism spectrum disorders a pilot trail [NCDEU abstract] / Child Adolesc Psychopharmacol 10 251-252. 

Gilberg C. Disorders of empathy autism and autism spectrum disorders (including childhood onset schizophrenia). In Clinical Child Neuropsychiatry. Gillberg C (editor). Cambridge Cambridge University Press, 1995 54-111. 

Table 6. CACNA1C (Cav1.2, alc) Functional results for mutations associated with TS = Timothy Syndrome and implicated in ASD = autism spectrum disorder...

Figure 5. Mutations in the human Cav3.2 (T-type) voltage-gated calcium channel associated with Childhood Absence Epilepsy (CAE), Idiopathic Generalized Epilepsy (IGE) and Autism Spectrum Disorder (ASD)...

Table 7. CACNA1H (Cav3.2, ct1H) Functional results for mutations associated with CAE = childhood absence epilepsy, IGE = Idiopathic generalized epilepsy and ASD = Autism Spectrum Disorder (only those mutations with functional data are listed)...

DiCicco-Bloom E, Lord C, Zwaigenbaum L, Courchesne E, Dager SR, Schmitz C, Schultz RT, Crawley J, Young LJ (2006) The developmental neurobiology of autism spectrum disorder. J Neurosci 26 6897-6906. 

Splawski I, Yoo DS, Stotz SC, Cherry A, Clapham DE, Keating MT (2006) CACNA1H Mutations in Autism Spectrum Disorders. J Biol Chem 281 22085—22091. 

GABRB3 Gene Deficient Mice A Potential Model of Autism Spectrum Disorder Timothy M. DeLorey... 

A Systematic Examination of Catatonia-Like Clinical Pictures in Autism Spectrum Disorders Loma Wing and Amitta Shah... 

Catatonia in Individuals with Autism Spectrum Disorders in Adolescence and Early Adulthood A Long-Term Prospective Study... 

Psychological Approaches to Chronic Catatonia-Like Deterioration in Autism Spectrum Disorders... 

Troost PW, Lahuis BE, Steenhuis MP, Ketelaars CE, Buitelaar JK, van Engeland H, Scahill L, Minderaa RB, Hoekstra PJ. Long-term effects of risperidone in children with autism spectrum disorders a placebo discontinuation study. J Am Acad Child Adolesc Psychiatry 2005 44 1137-44. 

Ashwood, P., Schauer, J., et al. (2009) Preliminary evidence of the in vitro effects of BDE4-7 on innate immune responses in children with autism spectrum disorders. Journal of Neuroimmunology, 208 (1-2) 130-135. 

Bednar I, Paterson D, Marutle A, Pham TM, Svedberg M, HeUstrom-Lindahl E, Mousavi M, Court J, Morris C, Perry E, Mohammed A, Zhang X, Nordberg A (2002) Selective nicotinic receptor consequences in APP(SWE) transgenic mice. Mol Cell Neurosci 20 354-365 Bejerot S, Nylander L (2003) Low prevalence of smoking in patients with autism spectrum disorders. Psychiatry Res 119 177-182... 

Centers for Disease Control and Prevention. New data on autism spectrum disorders, Atlanta, GA, February 8, 2007, www.cdc.gov... 

Owley T, Brune CW, Salt J et al (2010) A pharmacogenetic study of escitalopram in autism spectrum disorders. Autism Res 3 1-7... 

Ethylmercury (EtHg) is used in the form of thimerosal as a preservative in vaccines given to children. In recent years, there has been concern that EtHg exposure may induce neurodevelopmental disabilities such as language delay and attention deficit-hyperactivity disorder, but especially autism spectrum disorder. It has been removed from most vaccines in the USA and Europe but is stiU used in some developing countries. 

Autism Spectrum Disorders Clinical and Medical Perspectives... 

Recently, Campbell et al. (2009) have reported that disrupted MET gene signaling may contribute to increased risk for autism spectrum disorder that includes familial GI dysfunction. A functional variant in the promoter of the gene encoding the MET receptor tyrosine kinase has been associated with ASD, and MET protein expression has been found to be decreased in the temporal lobe cortex in ASD postmortem brain tissue. MET is a pleiotropic receptor that is known to function in both brain development and GI repair. Thus, the identification of medical disorders in ASD individuals, in this case GI disorders, may not only improve quality of life for those affected with ASD but may lead to improved or more precise definition of genetic and phenotypic subtypes in this complex heterogeneous disorder. 

Campbell, DB, D Oronzio, R, Garbett, K, Ebert, PJ, Mimics, K, Levitt, P, and Persico, AM. (2007) Dismption of cerebral cortex MET signaling in autism spectrum disorder. Ann Neurol 62 243-250. 

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