1. Bopp KD, Mirenda P. {{Prelinguistic predictors of language development in children with autism spectrum disorders over four-five years}}. {J Child Lang} (Jul 8):1-19.
ABSTRACTThis study examined relationships between prelinguistic variables from the MacArthur-Bates CDI and the development of language comprehension and production in children with autism. Forty-four children were assessed at baseline and 6, 12, 24, 33 and 53 months later. Growth Curve Modeling was used to examine the extent to which three composite CDI variables and three CDI item groupings predicted language development over 4-5 years. When examined individually, prespeech and early gestures were significant predictors of change for both comprehension and production, but late gestures were not. In addition, initiating joint attention and games and routines predicted comprehension and production over 4-5 years, and conventional gestures also predicted production. When all factors were considered simultaneously, children’s ability to participate in games and routines was the only significant predictor of language production over time. The results are discussed with regard to their implications for understanding the complex factors that affect developmental outcomes.
2. Brown NB, Dunn W. {{Relationship between context and sensory processing in children with autism}}. {Am J Occup Ther} (May-Jun);64(3):474-483.
OBJECTIVE: The purpose of the study was to determine the relationship between sensory processing and context for children with autism. We examined home and school contexts using the Sensory Profile (Dunn, 1999) and the Sensory Profile School Companion (Dunn, 2006a) questionnaires. METHOD: Teachers of 49 students with autism completed the Sensory Profile School Companion, and parents completed the Sensory Profile. We conducted correlational analyses using the avoiding and seeking quadrant scores from the School Companion and corresponding avoiding and seeking quadrant scores from the Sensory Profile. RESULTS: The avoiding quadrant score coefficient (.59) and the seeking quadrant score coefficient (.45) were statistically significant (p = .01) with good and fair correlations, respectively, suggesting that sensory processing patterns have both universal qualities and context-specific qualities in children with autism. CONCLUSION: Findings from this study provide initial evidence that sensory processing and context for children with autism are related.
3. de Bildt A, Oosterling IJ, van Lang ND, Sytema S, Minderaa RB, van Engeland H, Roos S, Buitelaar JK, van der Gaag RJ, de Jonge MV. {{Standardized ADOS Scores: Measuring Severity of Autism Spectrum Disorders in a Dutch Sample}}. {J Autism Dev Disord} (Jul 9)
The validity of the calibrated severity scores on the ADOS as reported by Gotham et al. (J Autism Dev Disord 39: 693-705, 2009), was investigated in an independent sample of 1248 Dutch children with 1455 ADOS administrations (modules 1, 2 and 3). The greater comparability between ADOS administrations at different times, ages and in different modules, as reached by Gotham et al. with the calibrated severity measures, seems to be corroborated by the current study for module 1 and to a lesser extent for module 3. For module 2, the calibrated severity scores need to be further investigated within a sample that resembles Gotham’s sample in age and level of verbal functioning.
4. Guffanti G, Lievers LS, Bonati MT, Marchi M, Geronazzo L, Nardocci N, Estienne M, Larizza L, Macciardi F, Russo S. {{Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: A positive replication for UBE3A}}. {Psychiatry Res} (Jul 5)
The aetiology of autism is still largely unknown despite analyses from family and twin studies demonstrating substantial genetic role in the aetiology of the disorder. Data from linkage studies and analyses of chromosomal abnormalities identified 15q11-q13 as a region of particular aetiopathogenesis interest. We screened a set of markers spanning two known imprinted, maternally expressed genes, UBE3A and ATP10A, harboured in this candidate region. We replicated evidence of linkage disequilibrium (LD) at marker D15S122, located at the 5′ end of UBE3A and originally reported by Nurmi et al. (2001). The potential role of UBE3A in our family-based association study is further supported by the association of two haplotypes that include one of the alleles of D15S122 and by the transmission disequilibrium test (TDT) evidence of the same allele in a parent of origin effect analysis. In a secondary analysis, we provided the first evidence of a significant association between first word delay and psychomotor regression with the 15q11-q13 region. Our data support a potential role of UBE3A in the complex pathogenic mechanisms of autism.
5. Holmboe K, Elsabbagh M, Volein A, Tucker LA, Baron-Cohen S, Bolton P, Charman T, Johnson MH. {{Frontal cortex functioning in the infant broader autism phenotype}}. {Infant Behav Dev} (Jul 5)
Atypical attention has been proposed as a marker of the broader autism phenotype. In the present study we investigated this and the related process of inhibitory control at the youngest possible age through the study of infant siblings of children with an autism spectrum disorder (Sibs-ASD). Both attention and inhibition have been related to the frontal cortex of the brain. Nine- to ten-month-old Sibs-ASD and low-risk control infants completed the Freeze-Frame task, in which infants are encouraged to inhibit looks to peripherally presented distractors whilst looking at a central animation. The attractiveness of the central stimulus is varied in order to investigate the selectivity of infants’ responses. In line with previous studies, it was found that a subset of Sibs-ASD infants had difficulty disengaging attention from a central stimulus in order to orient to a peripheral stimulus. The Sibs-ASD group also showed less Selective Inhibition than controls. However, Sibs-ASD infants did demonstrate Selective Inhibitory Learning. These results provide preliminary evidence for atypical frontal cortex functioning in the infant broader autism phenotype.
6. Lemonnier E, Ben-Ari Y. {{The diuretic bumetanide decreases autistic behaviour in 5 infants treated during 3 months with no side effects}}. {Acta Paediatr} (Jul 1)
Abstract The inhibitory transmitter GABA has been suggested to play an important role in Infantile Autistic syndrome (IAS) and extensive investigations suggest that excitatory actions of GABA in neurological disorders because of a persistent increase of [Cl (-)](I). Aims: To test the effects of the chloride co-transporter NKCC1 diuretic compound Bumetanide that reduces [Cl (-)](I) on IAS. Methods: Bumetanide was administered daily (1mg daily) during a 3 months period and clinical and biological tests made. We used 5 standard IAS severity tests -Childhood Autism Rating Scale, Aberrant Behaviour Checklist, Clinical Global Impressions; Repetitive and Restrictive Behaviour and the Regulation Disorder Evaluation Grid. Results: We report a significant improvement in IAS with no side effects. Conclusion: Bumetanide decreases autistic behaviour with no side effects suggesting that diuretic agents may exert beneficial effects on IAS and that alterations of the actions of GABA may be efficient in IAS treatment calling for large scale randomized trials.
7. Liu K, Zerubavel N, Bearman P. {{Social demographic change and autism}}. {Demography} (May);47(2):327-343.
Parental age at child’s birth–which has increased for U.S. children in the 1992-2000 birth cohorts–is strongly associated with an increased risk of autism. By turning a social demographic lens on the historical patterning of concordance among twin pairs, we identify a central mechanism for this association: de novo mutations, which are deletions, insertions, and duplications of DNA in the germ cells that are not present in the parents’ DNA. Along the way, we show that a demographic eye on the rising prevalence of autism leads to three major discoveries. First, the estimated heritability of autism has been dramatically overstated. Second, heritability estimates can change over remarkably short periods of time because of increases in germ cell mutations. Third, social demographic change can yield genetic changes that, at the population level, combine to contribute to the increased prevalence of autism.
8. Nijmeijer JS, Arias-Vasquez A, Rommelse NN, Altink ME, Anney RJ, Asherson P, Banaschewski T, Buschgens CJ, Fliers EA, Gill M, Minderaa RB, Poustka L, Sergeant JA, Buitelaar JK, Franke B, Ebstein RP, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sonuga-Barke EJ, Steinhausen HC, Faraone SV, Hartman CA, Hoekstra PJ. {{Identifying Loci for the Overlap Between Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder Using a Genome-wide QTL Linkage Approach}}. {J Am Acad Child Adolesc Psychiatry} (Jul);49(7):675-685.
OBJECTIVE: The genetic basis for autism spectrum disorder (ASD) symptoms in children with attention-deficit/hyperactivity disorder (ADHD) was addressed using a genome-wide linkage approach. METHOD: Participants of the International Multi-Center ADHD Genetics study comprising 1,143 probands with ADHD and 1,453 siblings were analyzed. The total and subscale scores of the Social Communication Questionnaire (SCQ) were used as quantitative traits for multipoint regression-based linkage analyses on 5,407 autosomal single-nucleotide polymorphisms applying MERLIN-regress software, both without and with inclusion of ADHD symptom scores as covariates. RESULTS: The analyses without ADHD symptom scores as covariates resulted in three suggestive linkage signals, i.e., on chromosomes 15q24, 16p13, and 18p11. Inclusion of ADHD symptom scores as covariates resulted in additional suggestive loci on chromosomes 7q36 and 12q24, whereas the LOD score of the locus on chromosome 15q decreased below the threshold for suggestive linkage. The loci on 7q, 16p, and 18p were found for the SCQ restricted and repetitive subscale, that on 15q was found for the SCQ communication subscale, and that on 12q for the SCQ total score. CONCLUSIONS: Our findings suggest that QTLs identified in this study are ASD specific, although the 15q QTL potentially has pleiotropic effects for ADHD and ASD. This study confirms that genetic factors influence ASD traits along a continuum of severity, as loci potentially underlying ASD symptoms in children with ADHD were identified even though subjects with autism had been excluded from the IMAGE sample, and supports the hypothesis that differential genetic factors underlie the three ASD dimensions.
9. Provost B, Crowe TK, Osbourn PL, McClain C, Skipper BJ. {{Mealtime behaviors of preschool children: comparison of children with autism spectrum disorder and children with typical development}}. {Phys Occup Ther Pediatr} (Aug);30(3):220-233.
ABSTRACT This study identified mealtime behaviors of young children (3-6 years old) with autism spectrum disorder (ASD) and compared these behaviors to children with typical development matched for age, gender, and ethnicity. The parents of children with ASD (n = 24) and children with typical development (n = 24) completed a mealtime survey to assess early mealtime history, mealtime location and behaviors, food preferences and behaviors, and eating problems. Parental concerns increased significantly after age 1 year in the children with ASD. Matched analysis results showed significant differences between the pairs of children in specific mealtime behaviors. More children with ASD were picky eaters, mouthed nonfood items, resisted new foods, limited foods based on textures, had problems with gagging, had difficulty eating at regular restaurants or at school, resisted sitting at the table, and threw or dumped food. Knowledge of these early differences can help pediatric therapists to assess feeding issues and plan interventions.
10. Sheth BR, Liu J, Olagbaju O, Varghese L, Mansour R, Reddoch S, Pearson DA, Loveland KA. {{Detecting Social and Non-Social Changes in Natural Scenes: Performance of Children with and Without Autism Spectrum Disorders and Typical Adults}}. {J Autism Dev Disord} (Jul 8)
We probed differences in the ability to detect and interpret social cues in adults and in children and young adolescents with and without autism spectrum disorders (ASD) by investigating the effect of various social and non-social contexts on the visual exploration of pictures of natural scenes. Children and adolescents relied more on social referencing cues in the scene as compared to adults, and in the presence of such cues, were less able to use other kinds of cues. Typically developing children and adolescents were no better than those with ASD at detecting changes within the various social contexts. Results suggest children and adolescents with ASD use relevant social cues while searching a scene just as typical children do.
11. Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, Fauchereau F, Coleman M, Leboyer M, Gillberg C, Bourgeron T. {{Key role for gene dosage and synaptic homeostasis in autism spectrum disorders}}. {Trends Genet} (Jul 5)
Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication, and repetitive, stereotyped verbal and non-verbal behaviors. Genetic studies have provided a relatively large number of genes that constitute a comprehensive framework to better understand this complex and heterogeneous syndrome. Based on the most robust findings, three observations can be made. First, genetic contributions to ASD are highly heterogeneous and most probably involve a combination of alleles with low and high penetrance. Second, the majority of the mutations apparently affect a single allele, suggesting a key role for gene dosage in susceptibility to ASD. Finally, the broad expression and function of the causative genes suggest that alteration of synaptic homeostasis could be a common biological process associated with ASD. Understanding the mechanisms that regulate synaptic homeostasis should shed new light on the causes of ASD and could provide a means to modulate the severity of the symptoms.
12. Underwood L, McCarthy J, Tsakanikos E. {{Mental health of adults with autism spectrum disorders and intellectual disability}}. {Curr Opin Psychiatry} (Jul 6)
PURPOSE OF REVIEW: The literature has often suggested that individuals with intellectual disability who have an autism spectrum disorder (ASD) experience higher rates of mental health problems than those without ASD. This finding has been challenged in recent years and so the purpose of this article was to critically review relevant studies since March 2009. The review focuses on studies specifically about the mental health of adults with intellectual disability who have ASD. RECENT FINDINGS: Recent studies do not support the hypothesis that adults with intellectual disability and ASD are more vulnerable to psychiatric disorders than those without ASD. Factors found to be associated with poorer mental health include severity of intellectual disability, adaptive behaviour skills and social skills. SUMMARY: The evidence base on the mental health of adults with intellectual disability and ASD is small but rapidly increasing. Studies tend to have relatively small sample sizes and there remain difficulties in accurately assessing ASD and psychopathology in adults with intellectual disability.
