1. Caria A, Venuti P, de Falco S. {{Functional and Dysfunctional Brain Circuits Underlying Emotional Processing of Music in Autism Spectrum Disorders}}. {Cereb Cortex};2011 (Apr 28)
Despite intersubject variability, dramatic impairments of socio-communicative skills are core features of autistic spectrum disorder (ASD). A deficit in the ability to express and understand emotions has often been hypothesized to be an important correlate of such impairments. Little is known about individuals with ASD’s ability to sense emotions conveyed by nonsocial stimuli such as music. Music has been found to be capable of evoking and conveying strong and consistent positive and negative emotions in healthy subjects. The ability to process perceptual and emotional aspects of music seems to be maintained in ASD. Individuals with ASD and neurotypical (NT) controls underwent a single functional magnetic resonance imaging (fMRI) session while processing happy and sad music excerpts. Overall, fMRI results indicated that while listening to both happy and sad music, individuals with ASD activated cortical and subcortical brain regions known to be involved in emotion processing and reward. A comparison of ASD participants with NT individuals demonstrated decreased brain activity was observed in the premotor area and in the left anterior insula, especially in response to happy music excerpts. Our findings shed new light on the neurobiological correlates of preserved and altered emotional processing in ASD.
2. Dudova I, Vodicka J, Havlovicova M, Sedlacek Z, Urbanek T, Hrdlicka M. {{Odor detection threshold, but not odor identification, is impaired in children with autism}}. {Eur Child Adolesc Psychiatry};2011 (Apr 29)
The aim of our study was to examine odor detection thresholds and odor identification in autistic subjects. Thirty-five patients with Asperger’s syndrome and high functioning autism (mean age 10.8 +/- 3.6 years; 31 boys) were compared with 35 healthy control subjects (mean age 10.4 +/- 2.4 years; 28 boys). There were no significant differences between groups with regard to mean age (p = 0.598) and gender proportion (p = 0.324). Olfactory testing used the Sniffin’ Sticks test (threshold and identification parts only). Participants with Asperger’s syndrome and high functioning autism, in comparison with healthy controls, were significantly impaired relative to odor detection thresholds (6.3 +/- 3.1 vs. 7.9 +/- 2.0; p = 0.025). Autistic participants were significantly better in correctly identifying the odor of an orange (94 vs. 63%; p < 0.05) and significantly worse at correctly identifying the odor of cloves (40 vs. 74%; p < 0.05). With regard to identification of fourteen other substances, there were no significant differences. There was no significant difference between autistic and control subjects on the total score of olfactory identification (p = 0.799). Odor identification ability (as expressed by this total score) correlated significantly with age in the control group (p = 0.049), but not in the autism group (p = 0.103). We found impaired odor detection and almost normal odor identification in children with autism. Implications for further research are discussed.
3. Gabis LV, Kesner Baruch Y, Jokel A, Raz R. {{Psychiatric and Autistic Comorbidity in Fragile X Syndrome Across Ages}}. {J Child Neurol};2011 (Apr 27)
Fragile X syndrome is caused by CGG trinucleotide repeat expansion within the fragile X mental retardation 1 gene, when repeat number exceeds 200. The typical psychiatric profile of fragile X syndrome patients includes cognitive and behavioral deficits, psychiatric comorbidity, and autistic characteristics. Specific psychiatric features have not yet been clarified, specifically in relationship to age and genetic characteristics. The objective of this study was to characterize psychiatric comorbidities in subjects with fragile X syndrome at different ages. Subjects with fragile X syndrome and their unaffected siblings were recruited and their parents filled out functional-behavioral and psychiatric comorbidities questionnaires. Adolescents with fragile X syndrome showed decreased prevalence of functional-behavioral deficits. Incidence and severity of most psychiatric comorbidities were lower in older subjects. Incidence of generalized anxiety disorder increased with age in the fragile X syndrome group. The typical profile of patients with fragile X syndrome changes with age. Unaffected siblings exhibit anxiety and motor tics.
4. Lo YC, Soong WT, Gau SS, Wu YY, Lai MC, Yeh FC, Chiang WY, Kuo LW, Jaw FS, Tseng WY. {{The loss of asymmetry and reduced interhemispheric connectivity in adolescents with autism: a study using diffusion spectrum imaging tractography}}. {Psychiatry Res};2011 (Apr 30);192(1):60-66.
Evidence from neuroimaging and neurobiological studies suggests that abnormalities in cortical-cortical connectivity involving both local and long-distance scales may be related to autism. The present study analyzed the microstructural integrity of the long-range connectivity related to social cognition and language processing with diffusion tractography among adolescents with autism compared with neurotypical adolescents. Tract-specific analyses were used to study the long-range connectivity responsible for integrating social cognition and language processing. Specifically, three pairs of association fibers and three portions of callosal fiber tracts were analyzed. Generalized fractional anisotropy (GFA) values were measured along individual targeted fiber tracts to investigate alterations in microstructure integrity. The asymmetry patterns were also assessed in three pairs of association fibers. In neurotypical participants, we found a consistent leftward asymmetry in three pairs of association fibers. However, adolescents with autism did not demonstrate such asymmetry. Moreover, adolescents with autism had significantly lower mean GFA in three callosal fiber tracts than neurotypical participants. The loss of leftward asymmetry and reduction of interhemispheric connection in adolescents with autism suggest alterations of the long-range connectivity involved in social cognition and language processing. Our results warrant further investigation by combining developmental and neurocognitive data.
5. Mayes SD, Calhoun SL, Murray MJ, Morrow JD, Yurich KK, Cothren S, Purichia H, Bouder JN. {{Use of Gilliam Asperger’s disorder scale in differentiating high and low functioning autism and ADHD}}. {Psychol Rep};2011 (Feb);108(1):3-13.
Little is known about the validity of Gilliam Asperger’s Disorder Scale (GADS), although it is widely used. This study of 199 children with high functioning autism or Asperger’s disorder, 195 with low functioning autism, and 83 with attention deficit hyperactivity disorder (ADHD) showed high classification accuracy (autism vs. ADHD) for clinicians’ GADS Quotients (92%), and somewhat lower accuracy (77%) for parents’ Quotients. Both children with high and low functioning autism had clinicians’ Quotients (M=99 and 101, respectively) similar to the Asperger’s Disorder mean of 100 for the GADS normative sample. Children with high functioning autism scored significantly higher on the cognitive patterns subscale than children with low functioning autism, and the latter had higher scores on the remaining subscales: social interaction, restricted patterns of behavior, and pragmatic skills. Using the clinicians’ Quotient and Cognitive Patterns score, 70% of children were correctly identified as having high or low functioning autism or ADHD.
6. Nadig A, Shaw H. {{Acoustic and Perceptual Measurement of Expressive Prosody in High-Functioning Autism: Increased Pitch Range and What it Means to Listeners}}. {J Autism Dev Disord};2011 (Apr 29)
Are there consistent markers of atypical prosody in speakers with high functioning autism (HFA) compared to typically-developing speakers? We examined: (1) acoustic measurements of pitch range, mean pitch and speech rate in conversation, (2) perceptual ratings of conversation for these features and overall prosody, and (3) acoustic measurements of speech from a structured task. Increased pitch range was found in speakers with HFA during both conversation and structured communication. In global ratings listeners rated speakers with HFA as having atypical prosody. Although the HFA group demonstrated increased acoustic pitch range, listeners did not rate speakers with HFA as having increased pitch variation. We suggest that the quality of pitch variation used by speakers with HFA was non-conventional and thus not registered as such by listeners.
7. Poustka F. {{[Pathways of research in autism]}}. {Z Kinder Jugendpsychiatr Psychother};2011 (Mar);39(2):73-77.
8. Riebold M, Mankuta D, Lerer E, Israel S, Zhong S, Nemanov L, Monakhov MV, Levi S, Yirmiya N, Yaari M, Malavasi F, Ebstein RP. {{all-trans-Retinoic-Acid (ATRA) upregulates reduced CD38 transcription in lymphoblastoid cell lines from autism spectrum disorder}}. {Mol Med};2011 (Apr 25)
Deficits in social behavior in mice lacking the CD38 gene have been attributed to impaired secretion of oxytocin. In humans, similar deficits in social behavior are associated with autistic spectrum disorder (ASD), for which genetic variants of CD38 have been pinpointed as provisional risk factors. We sought to explore in an in vitro model the feasibility that restoring the level of CD38 in ASD patients could be of potential clinical benefit. CD38 transcription is highly sensitive to several cytokines and vitamins. One of these, ATRA- a known inducer of CD38, was added during cell culture and tested on a large sample of N=120 lymphoblastoid cell lines (LBC) lines from ASD patients and their parents. Analysis of CD38 mRNA levels shows that ATRA has an up-modulatory potential on LBC derived from both ASD patients as well as from their parents. The next crucial issue addressed in our study is the relationship between levels of CD38 expression and psychological parameters. The results obtained indicate a positive correlation between CD38 expression levels and patient scores on the Vineland Adaptive Behavior Seale (VABS). Additionally, analysis of the role of genetic polymorphisms on the dynamics of the molecule revealed that the genotype of a single SNP (rs6449182; C>G variation) in the CpG island of intron 1, harboring the retinoic-acid response element, exerts differential roles on CD38 expression in ASD and in parental LBC. In conclusion, our results provide an empirical basis for the development of a pharmacological treatment strategy in ASD based on retinoids.
