1. Amiet C, Gourfinkel-An I, Consoli A, Perisse D, Cohen D. {{[Epilepsy and autism: a complex issue]}}. {Arch Pediatr} (Jun);17(6):650-651.
2. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu S, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI, Jr., Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J. {{A genomewide scan for common alleles affecting risk for autism}}. {Hum Mol Genet} (Jul 27)
While autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1,558 rigorously defined ASD families for one million single nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P<5×10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner’s curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P<5×10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2, and TAF1C.
3. Assouline B. {{[Autism announcement at consultation is a therapeutic step]}}. {Arch Pediatr} (Jun);17(6):647-648.
4. Bishop DV, Jacobs PA, Lachlan K, Wellesley D, Barnicoat A, Boyd PA, Fryer A, Middlemiss P, Smithson S, Metcalfe K, Shears D, Leggett V, Nation K, Scerif G. {{Autism, language and communication in children with sex chromosome trisomies}}. {Arch Dis Child} (Jul 23)
Purpose Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3-3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in postnatally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. The authors recruited the largest sample including all three SCTs to be reported to date, including children identified on prenatal screening, to clarify this issue. Design Parents of children with a SCT were recruited either via prenatal screening or via a parental support group, to give a sample of 58 XXX, 19 XXY and 58 XYY cases. Parents were interviewed using the Vineland Adaptive Behavior Scales and completed questionnaires about the communicative development of children with SCTs and their siblings (42 brothers and 26 sisters). Results Rates of language and communication problems were high in all three trisomies. Diagnoses of autism spectrum disorder (ASD) were found in 2/19 cases of XXY (11%) and 11/58 XYY (19%). After excluding those with an ASD diagnosis, communicative profiles indicative of mild autistic features were common, although there was wide individual variation. Conclusions Autistic features have not previously been remarked upon in studies of non-referred samples with SCTs, yet the rate is substantially above population levels in this sample, even when attention is restricted to early-identified cases. The authors hypothesise that X-linked and Y-linked neuroligins may play a significant role in the aetiology of communication impairments and ASD.
5. Booth R, Happe F. {{« Hunting with a knife and … fork »: Examining central coherence in autism, attention deficit/hyperactivity disorder, and typical development with a linguistic task}}. {J Exp Child Psychol} (Jul 21)
A local processing bias, referred to as « weak central coherence, » has been postulated to underlie key aspects of autism spectrum disorder (ASD). Little research has examined whether individual differences in this cognitive style can be found in typical development, independent of intelligence, and how local processing relates to executive control. We present a brief and easy-to-administer test of coherence requiring global sentence completions. We report results from three studies assessing (a) 176 typically developing (TD) 8- to 25-year-olds, (b) individuals with ASD and matched controls, and (c) matched groups with ASD or attention deficit/hyperactivity disorder (ADHD). The results suggest that the Sentence Completion Task can reveal individual differences in cognitive style unrelated to IQ in typical development, that most (but not all) people with ASD show weak coherence on this task, and that performance is not related to inhibitory control. The Sentence Completion Task was found to be a useful test instrument, capable of tapping local processing bias in a range of populations.
6. Chaste P, Clement N, Mercati O, Guillaume JL, Delorme R, Botros HG, Pagan C, Perivier S, Scheid I, Nygren G, Anckarsater H, Rastam M, Stahlberg O, Gillberg C, Serrano E, Lemiere N, Launay JM, Mouren-Simeoni MC, Leboyer M, Gillberg C, Jockers R, Bourgeron T. {{Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population}}. {PLoS One};5(7):e11495.
Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration of the melatonin pathway has been reported in circadian disorders, diabetes and autism spectrum disorders (ASD). However, very little is known about the genetic variability of melatonin receptors in humans. Here, we sequenced the melatonin receptor MTNR1A and MTNR1B, genes coding for MT1 and MT2 receptors, respectively, in a large panel of 941 individuals including 295 patients with ASD, 362 controls and 284 individuals from different ethnic backgrounds. We also sequenced GPR50, coding for the orphan melatonin-related receptor GPR50 in patients and controls. We identified six non-synonymous mutations for MTNR1A and ten for MTNR1B. The majority of these variations altered receptor function. Particularly interesting mutants are MT1-I49N, which is devoid of any melatonin binding and cell surface expression, and MT1-G166E and MT1-I212T, which showed severely impaired cell surface expression. Of note, several mutants possessed pathway-selective signaling properties, some preferentially inhibiting the adenylyl cyclase pathway, others preferentially activating the MAPK pathway. The prevalence of these deleterious mutations in cases and controls indicates that they do not represent major risk factor for ASD (MTNR1A case 3.6% vs controls 4.4%; MTNR1B case 4.7% vs 3% controls). Concerning GPR50, we detected a significant association between ASD and two variations, Delta502-505 and T532A, in affected males, but it did not hold up after Bonferonni correction for multiple testing. Our results represent the first functional ascertainment of melatonin receptors in humans and constitute a basis for future structure-function studies and for interpreting genetic data on the melatonin pathway in patients.
7. Ghanizadeh A. {{Factor analysis on ADHD and autism spectrum disorder DSM-IV-derived items shows lack of overlap}}. {Eur Child Adolesc Psychiatry} (Jul 24)
8. Kemp ML, Hart MB. {{MMR vaccine and autism: is there a link?}}. {Jaapa} (Jun);23(6):48, 50.
9. Kleinhans NM, Richards T, Weaver K, Johnson LC, Greenson J, Dawson G, Aylward E. {{Association between amygdala response to emotional faces and social anxiety in autism spectrum disorders}}. {Neuropsychologia} (Jul 22)
Difficulty interpreting facial expressions has been reported in autism spectrum disorders (ASD) and is thought to be associated with amygdala abnormalities. To further explore the neural basis of abnormal emotional face processing in ASD, we conducted an fMRI study of emotional face matching in high-functioning adults with ASD and age, IQ, and gender matched controls. In addition, we investigated whether there was a relationship between self-reported social anxiety and fMRI activation. During fMRI scanning, study participants were instructed to match facial expressions depicting fear or anger. The control condition was a comparable shape-matching task. The control group evidenced significantly increased left prefrontal activation and decreased activation in the occipital lobes compared to the ASD group during emotional face matching. Further, within the ASD group, greater social anxiety was associated with increased activation in right amygdala and left middle temporal gyrus, and decreased activation in the fusiform face area. These results indicate that level of social anxiety mediates the neural response to emotional face perception in ASD.
10. Kochhar P, Batty MJ, Liddle EB, Groom MJ, Scerif G, Liddle PF, Hollis CP. {{Autistic spectrum disorder traits in children with attention deficit hyperactivity disorder}}. {Child Care Health Dev} (Jul 27)
Abstract Background Current classification systems do not allow for comorbid diagnoses of attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder (ASD). Children with ADHD are often screened for ASD during clinical assessment and when recruited to clinical trials. We predicted that children with ADHD would have more autistic traits than controls and that certain traits would be more prevalent. Methods The clinically referred sample consisted of 30 children with ADHD and 30 matched controls aged 9-15 years. Children were screened for ASD traits using the Social Aptitudes Scale (SAS) and the Social Communication Questionnaire (SCQ). Results We found that ASD traits were significantly higher in children with ADHD than controls. None of the children received a diagnosis of autism or ASD. However, a large proportion (28% using the SCQ and 62% using the SAS) of children with ADHD reached screening thresholds for a predictive diagnosis of ASD. Relative to controls, children with ADHD had significantly higher levels of communication and social deficits, but not repetitive behaviours. Conclusion Further work is needed to establish whether autistic-like communication and social difficulties in children with ADHD are part of the broader ASD phenotype or are specific to ADHD.
11. Kring SR, Greenberg JS, Seltzer MM. {{The Impact of Health Problems on Behavior Problems in Adolescents and Adults With Autism Spectrum Disorders: Implications for Maternal Burden}}. {Soc Work Ment Health} (Jan);8(1):54-71.
Recent research on individuals with autism spectrum disorders (ASD) highlights that they may be at increased risk for health problems when compared to the general population, and that these differences appear to increase with age. Relatively little research has examined the psychosocial impact of poorer health in this population, even though the clinical literature suggests that health problems put individuals with ASD at risk for elevated behavioral problems and their mothers at risk for elevated caregiving burden. This study examined the associations of physical health and behavior problems, as well as the associations of these factors with maternal burden, using longitudinal data. Results indicated that prior ratings of physical health problems predicted subsequent levels of behavior problems. Further, behavior problems partially mediated the effect of health problems on maternal burden. Implications for policies and interventions that focus on health promotion in conjunction with treatment of behavior problems are discussed, along with directions for future research.
12. Mouridsen SE, Rich B, Isager T. {{A longitudinal study of epilepsy and other central nervous system diseases in individuals with and without a history of infantile autism}}. {Brain Dev} (Jul 22)
Objective: To compare the prevalence and types of epilepsy and other central nervous system (CNS) diseases in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. Methods: All participants were screened through the nationwide Danish National Hospital Register (DNHR). The average observation time was 30.3years (range 27-30years), and mean age at follow-up was 42.7years (range 27-57years). Results: Of the 118 individuals with IA, 29 (24.6%) were registered with at least one epilepsy diagnosis against 5 (1.5%) in the comparison group (p<0.0001; OR=21.6; 95% CI 8.1-57.3). Other CNS diseases occurred with low frequency in both groups and only cerebral palsy, unspecified (p=0.02) was significantly more frequent among participants with a history of IA. Conclusions: Our study lends further support to the notion that epilepsy, but not other CNS diseases, is a common comorbid condition in IA. Low intelligence, but not gender, was a risk factor for epilepsy in IA.
13. Oller DK, Niyogi P, Gray S, Richards JA, Gilkerson J, Xu D, Yapanel U, Warren SF. {{Automated vocal analysis of naturalistic recordings from children with autism, language delay, and typical development}}. {Proc Natl Acad Sci U S A} (Jul 27);107(30):13354-13359.
For generations the study of vocal development and its role in language has been conducted laboriously, with human transcribers and analysts coding and taking measurements from small recorded samples. Our research illustrates a method to obtain measures of early speech development through automated analysis of massive quantities of day-long audio recordings collected naturalistically in children’s homes. A primary goal is to provide insights into the development of infant control over infrastructural characteristics of speech through large-scale statistical analysis of strategically selected acoustic parameters. In pursuit of this goal we have discovered that the first automated approach we implemented is not only able to track children’s development on acoustic parameters known to play key roles in speech, but also is able to differentiate vocalizations from typically developing children and children with autism or language delay. The method is totally automated, with no human intervention, allowing efficient sampling and analysis at unprecedented scales. The work shows the potential to fundamentally enhance research in vocal development and to add a fully objective measure to the battery used to detect speech-related disorders in early childhood. Thus, automated analysis should soon be able to contribute to screening and diagnosis procedures for early disorders, and more generally, the findings suggest fundamental methods for the study of language in natural environments.
14. Schiff M, Delorme R, Benoist JF, Ogier de Baulny H. {{[Should a metabolic work-up be performed in autism?]}}. {Arch Pediatr} (Jun);17(6):802-803.
15. South M, Larson MJ, Krauskopf E, Clawson A. {{Error processing in high-functioning Autism Spectrum Disorders}}. {Biol Psychol} (Jul 21)
Studies report error-processing abnormalities in high-functioning individuals with Autism Spectrum Disorders (ASD) that may be influenced by intelligence and autism severity. Error processing can be measured using the error-related negativity (ERN) and post-error positivity (Pe) components of the event-related potential (ERP), along with behavioral indices such as post-error reaction time (RT) slowing. We used a modified Flanker task to test the hypothesis that high-functioning individuals with ASD would show decreased amplitude ERN in 24 individuals with ASD and 21 age- and IQ-matched typically-developing control participants. Behaviorally, individuals with ASD committed more errors than controls, but groups did not significantly differ on RTs, although there was a trend-level difference in post-error slowing. For ERPs, ERN amplitude was significantly attenuated in individuals with ASD relative to controls; groups did not differ in Pe amplitude. Amplitude of the ERN was not significantly correlated with measures of intelligence, anxiety, behavioral inhibition, or general autism severity.
