1. Buxbaum JD. {{Multiple rare variants in the etiology of autism spectrum disorders}}. {Dialogues Clin Neurosci};2009;11(1):35-43.
Recent studies in autism spectrum disorders (ASDs) support an important role for multiple rare variants in these conditions. This is a clinically important finding, as, with the demonstration that a significant proportion of ASDs are the result of rare, etiological genetic variants, it becomes possible to make use of genetic testing to supplement behavioral analyses for an earlier diagnosis. As it appears that earlier interventions in ASDs will produce better outcomes, the development of genetic testing to augment behaviorally based evaluations in ASDs holds promise for improved treatment. Furthermore, these rare variants involve synaptic and neuronal genes that implicate specific pathways, cells, and subcellular compartments in ASDs, which in turn will suggest novel therapeutic approaches in ASDs. Of particular recent interest are the synaptic cell adhesion and associated molecules, including neurexin 1, neuroligin 3 and 4, and SHANK3, which implicate glutamatergic synapse abnormalities in ASDs. In the current review we will overview the evidence for a genetic etiology for ASDs, and summarize recent genetic findings in these disorders.
2. Dickie VA, Baranek GT, Schultz B, Watson LR, McComish CS. {{Parent reports of sensory experiences of preschool children with and without autism: a qualitative study}}. {Am J Occup Ther};2009 (Mar-Apr);63(2):172-181.
This study describes sensory experiences of children with and without autism. Parents of 66 preschoolers (29 typically developing; 37 with autism) described situations in which their child had « good » and « bad » sensory experiences and their perception of how these situations felt to the child. The most common unpleasant experiences for both groups related to sound; the most common pleasant experiences involved touch and movement. Children with autism were reported to have more extreme or unusual experiences and negative food-related experiences than typically developing peers. Parental explanations for children’s responses focused on the qualities of the child, stimulus, or context. Parents of children with autism were more likely to recognize elements in their children’s experiences as being sensory and to attribute those responses to aspects of autism. Parents’ positive response to the interview itself was an unexpected result with clinical relevance.
3. Esbensen AJ, Greenberg JS, Seltzer MM, Aman MG. {{A Longitudinal Investigation of Psychotropic and Non-Psychotropic Medication Use Among Adolescents and Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2009 (May 12)
Medication use was examined in 286 adolescents and adults with ASD over a 4.5 year period. A total of 70% were taking a psychotropic or non-psychotropic medication at the beginning of the study. Both the number of psychotropic and non-psychotropic medications taken, and the proportion of individuals taking these medications, increased significantly over the study period, with 81% taking at least one medication 4.5 years later. Our findings suggested a high likelihood of staying medicated over time. Thus, adolescents and adults with ASD are a highly and increasingly medicated population.
4. Heijnen-Kohl SM, van Alphen SP. {{[Diagnosis of autism spectrum disorders in older adults.]}}. {Tijdschr Psychiatr};2009;51(5):339-343.Diagnostiek van autismespectrumstoornissen bij ouderen.
BACKGROUND: Older adults are hardly ever diagnosed as having autism spectrum disorders (asd). Only a few case-studies have been published and there has been no quantitative research into these developmental disorders in the 60-plus age group. Diagnosis is made more complicated because it is difficult to obtain a developmental history in older adults. It is possible that behavioural aspects are different in later life because of the biopsychosocial factors that are linked to ageing. Further scientific research is needed into differential diagnoses in older adults.
