1. Andersen AB, Ehrenstein V, Erichsen R, Froslev T, Sorensen HT. {{Autism spectrum disorders in children of parents with inflammatory bowel disease – a nationwide cohort study in Denmark}}. {Clin Exp Gastroenterol};2014;7:105-110.
PURPOSE: Inflammatory bowel disease (IBD) and autism spectrum disorders (ASD) may share genetic and environmental risk factors. We examined whether parental IBD is associated with an increased risk of ASD in offspring. METHODS: We conducted a registry-based nationwide cohort study including children born alive in Denmark from January 1, 1994 to December 31, 2009, with follow-up throughout 2010. IBD in parents and ASD in offspring were identified using inpatient and outpatient hospital diagnoses. We computed risk of ASD and crude and adjusted incidence rate ratios (aIRRs) with 95% confidence intervals (CI) using Cox proportional-hazards regression. We evaluated the risk of ASD according to maternal and paternal IBD, and separately for maternal and paternal Crohn’s disease (CD) and ulcerative colitis (UC). Children with parents free of IBD were the comparison cohort. RESULTS: We identified 1,005,330 children during the study period. Among them, 11,888 (1.2%) had a parent with IBD and 8,087 (0.8%) had a diagnosis of ASD during up to 17 years of follow-up. The 10-year risks of ASD were 0.7% among children of parents with IBD and 0.9% among children of parents without IBD. The aIRR for ASD among children with parental IBD was 0.8 (95% CI: 0.6-1.0), and results were similar regardless of parent of IBD origin or whether a parent had CD or UC. The estimates were similar for different ASD subtypes. CONCLUSION: We found no evidence of an increased risk of ASD among children born to parents with IBD.
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2. Bader SH, Barry TD. {{A Longitudinal Examination of the Relation Between Parental Expressed Emotion and Externalizing Behaviors in Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (May 23)
The current study explored the longitudinal relation between parental expressed emotion, a well-established predictor of symptom relapse in various other disorders (e.g., schizophrenia) with externalizing behaviors in 84 children, ages 8-18 (at Time 2), with autism spectrum disorder (ASD). It was found that parental expressed emotion, specifically criticism/hostility at Time 1, significantly related to a change in externalizing behaviors from Time 1 to Time 2, even after controlling for Time 1 family income, ASD symptom severity, parental distress, and parenting practices. That is, higher levels of parental criticism/hostility at Time 1 predicted higher levels of child externalizing behaviors at Time 2. However, the reverse was not found. This finding of a unidirectional relation has important clinical implications.
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3. Fava L, Strauss K. {{Response to Early Intensive Behavioral Intervention for autism-An umbrella approach to issues critical to treatment individualization}}. {Int J Dev Neurosci};2014 (May 24)
Integrating knowledge across the disciplines of genetics, neurological, and behavioral science targets, so far, early identification of children with autism and thus early access to intervention. Cross-discipline collaboration might be substantially improve treatment efficacy via individualized treatment based on the child and family needs, consistency across treatment providers and careful planning of skill curricula, setting and techniques. This paper documents the current state of five main issues critical to treatment individualization where cross-discipline collaboration is warranted: (1) developmental timing, (2) treatment intensity, (3) heterogeneity in treatment response, (4) program breath and flexibility, and (5) formats of treatment provision.
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4. Feldman R, Golan O, Hirschler-Guttenberg Y, Ostfeld-Etzion S, Zagoory-Sharon O. {{Parent-child interaction and oxytocin production in pre-schoolers with autism spectrum disorder}}. {Br J Psychiatry};2014 (May 22)
BACKGROUND: Autism spectrum disorder (ASD) is associated with genetic risk on the oxytocin system, suggesting oxytocin involvement in ASD; yet oxytocin functioning in young children with ASD is unknown. AIMS: To assess baseline oxytocin in pre-schoolers with ASD and test whether oxytocin production may be enhanced by parent-child contact. METHOD: Forty pre-schoolers with high-functioning ASD were matched with 40 typically developing controls. Two home visits included an identical 45-minute social battery once with the mother and once with the father. Four saliva oxytocin samples were collected from each parent and the child during each visit. RESULTS: Children with ASD had lower baseline oxytocin. Following 20 min of parent-child interactions, oxytocin normalised and remained high during social contact. Fifteen minutes after contact, oxytocin fell to baseline. Oxytocin correlated with parent-child social synchrony in both groups. CONCLUSIONS: Oxytocin dysfunction in ASD is observed in early childhood. The quick improvement in oxytocin production following parent-child contact underscores the malleability of the system and charts future directions for attachment-based behavioural and pharmacological interventions.
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5. Halliday DW, MacDonald SW, Sherf SK, Tanaka JW. {{A reciprocal model of face recognition and autistic traits: evidence from an individual differences perspective}}. {PLoS One};2014;9(5):e94013.
Although not a core symptom of the disorder, individuals with autism often exhibit selective impairments in their face processing abilities. Importantly, the reciprocal connection between autistic traits and face perception has rarely been examined within the typically developing population. In this study, university participants from the social sciences, physical sciences, and humanities completed a battery of measures that assessed face, object and emotion recognition abilities, general perceptual-cognitive style, and sub-clinical autistic traits (the Autism Quotient (AQ)). We employed separate hierarchical multiple regression analyses to evaluate which factors could predict face recognition scores and AQ scores. Gender, object recognition performance, and AQ scores predicted face recognition behaviour. Specifically, males, individuals with more autistic traits, and those with lower object recognition scores performed more poorly on the face recognition test. Conversely, university major, gender and face recognition performance reliably predicted AQ scores. Science majors, males, and individuals with poor face recognition skills showed more autistic-like traits. These results suggest that the broader autism phenotype is associated with lower face recognition abilities, even among typically developing individuals.
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6. Holmes LG, Himle MB. {{Brief Report: Parent-Child Sexuality Communication and Autism Spectrum Disorders}}. {J Autism Dev Disord};2014 (May 23)
While considerable research has focused on promoting independence and optimizing quality of life for adolescents and young adult with autism spectrum disorder (ASD), sexual development and sexuality education have been largely neglected. Experts recommend that parents be the primary source of sex education for adolescents with ASD, and that sex education be tailored to a child’s developmental level. Prior studies show that parents of youth with ASD are uncertain about how to best communicate about sex and which topics to discuss with their children. In the current study we administered an online survey to 190 parents of adolescents with ASD in order to better understand sexuality communication patterns between parents and adolescents with both low and high functioning ASD.
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7. Ju A, Hammerschmidt K, Tantra M, Krueger D, Brose N, Ehrenreich H. {{Juvenile manifestation of ultrasound communication deficits in the neuroligin-4 null mutant mouse model of autism}}. {Behav Brain Res};2014 (May 20);270C:159-164.
Neuroligin-4 (Nlgn4) is a member of the neuroligin family of postsynaptic cell adhesion molecules. Loss-of-function mutations of NLGN4 are among the most frequent, known genetic causes of heritable autism. Adult Nlgn4 null mutant (Nlgn4-/-) mice are a construct valid model of human autism, with both genders displaying a remarkable autistic phenotype, including deficits in social interaction and communication as well as restricted and repetitive behaviors. In contrast to adults, autism-related abnormalities in neonatal and juvenile Nlgn4-/- mice have not been reported yet. The present study has been designed to systematically investigate in male and female Nlgn4-/- pups versus wildtype littermates (WT, Nlgn4+/+) developmental milestones and stimulus-induced ultrasound vocalization (USV). Neonatal development, followed daily from postnatal days (PND) 4 to 21, including physical development, neurological reflexes and neuromotor coordination, did not yield any differences between Nlgn4-/- and their WT littermates. USV in pups (PND8-9) in response to brief separation from their mothers revealed remarkable gender effects, and a genotype influence in females regarding latency to first call. In juveniles (PND22-23), USV monitoring upon exposure to an anesthetized female intruder mouse uncovered a clear genotype effect with reduced USV in Nlgn4-/- mice, and again a more prominent phenotype in females. Together, these data support an early manifestation of communication deficits in Nlgn4-/- mice that appear more pronounced in immature females with their overall stronger USV as compared to males.
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8. Kruizinga I, Visser JC, van Batenburg-Eddes T, Carter AS, Jansen W, Raat H. {{Screening for autism spectrum disorders with the brief infant-toddler social and emotional assessment}}. {PLoS One};2014;9(5):e97630.
OBJECTIVE: Using parent-completed questionnaires in (preventive) child health care can facilitate the early detection of psychosocial problems and psychopathology, including autism spectrum disorders (ASD). A promising questionnaire for this purpose is the Brief Infant-Toddler Social and Emotional Assessment (BITSEA). The screening accuracy with regard to ASD of the BITSEA Problem and Competence scales and a newly calculated Autism score were evaluated. METHOD: Data, that was collected between April 2010 and April 2011, from a community sample of 2-year-olds (N = 3127), was combined with a sample of preschool children diagnosed with ASD (N = 159). For the total population and for subgroups by child’s gender, area under the Receiver Operating Characteristic (ROC) curve was examined, and across a range of BITSEA Problem, Competence and Autism scores, sensitivity, specificity, positive and negative likelihood ratio’s, diagnostic odds ratio and Youden’s index were reported. RESULTS: The area under the ROC curve (95% confidence interval, [95%CI]) of the Problem scale was 0.90(0.87-0.92), of the Competence scale 0.93(0.91-0.95), and of the Autism score 0.95(0.93-0.97). For the total population, the screening accuracy of the Autism score was significantly better, compared to the Problem scale. The screening accuracy of the Competence scale was significantly better for girls (AUC = 0.97; 95%CI = 0.95-0.98) than for boys (AUC = 0.91; 95%CI = 0.88-0.94). CONCLUSION: The results indicate that the BITSEA scales and newly calculated Autism score have good discriminative power to differentiate children with and without ASD. Therefore, the BITSEA may be helpful in the early detection of ASD, which could have beneficial effects on the child’s development.
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9. Mitchell GE, Locke KD. {{Lay beliefs about autism spectrum disorder among the general public and childcare providers}}. {Autism};2014 (May 22)
We conducted a survey of beliefs about autism among the general public in the United States and Canada (n = 823) and among individuals working in childcare facilities in the state of Idaho (n = 176). Results included the following. Almost all respondents correctly believed that autism’s primary causes are genetic and neurological (not parenting, drugs, or current diet), that it can be identified in early childhood, and that helpful interventions exist. Respondents generally distinguished diagnostic from non-diagnostic traits, but approximately half incorrectly labeled constant squirming as diagnostic and difficulties in making friends as non-diagnostic. College graduates and childcare workers were more likely to have learned about autism in professional/academic settings and to correctly recognize diagnostic traits. Of concern, 10% of respondents considered vaccinations to be among the two main causes of autism. Accurate public understanding of autism spectrum disorders can facilitate early identification and effective intervention; our results suggest that efficient channels for conveying accurate information include broadcast and online media (from which the general public, especially members of ethnic minority groups, were most likely to learn about autism), and professional development courses for childcare providers.
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10. Roberts AL, Koenen KC, Lyall K, Ascherio A, Weisskopf MG. {{Women’s posttraumatic stress symptoms and autism spectrum disorder in their children}}. {Res Autism Spectr Disord};2014 (Jun 1);8(6):608-616.
Maternal posttraumatic stress disorder (PTSD) may be associated with autism spectrum disorder (ASD) in offspring through multiple pathways: maternal stress may affect the fetus; ASD in children may increase risk of PTSD in mothers; and the two disorders may share genetic risk. Understanding whether maternal PTSD is associated with child’s ASD is important for clinicians treating children with ASD, as PTSD in parents is associated with poorer family functioning. We examined the association of maternal PTSD with offspring ASD in a large US cohort (N ASD cases = 413, N controls = 42,868). Mother’s PTSD symptoms were strongly associated with child’s ASD (RR 4-5 PTSD symptoms=1.98, 95% CI=1.39, 2.81; RR 6-7 symptoms=2.89, 95% CI=2.00, 4.18). Clinicians treating persons with ASD should be aware of elevated risk of PTSD in the mother. Genetic studies should investigate PTSD risk alleles in relation to ASD.
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11. Tell D, Davidson D. {{Emotion recognition from congruent and incongruent emotional expressions and situational cues in children with autism spectrum disorder}}. {Autism};2014 (May 22)
In this research, the emotion recognition abilities of children with autism spectrum disorder and typically developing children were compared. When facial expressions and situational cues of emotion were congruent, accuracy in recognizing emotions was good for both children with autism spectrum disorder and typically developing children. When presented with facial expressions incongruent with situational cues, children with autism spectrum disorder relied more on facial cues than situational cues, whereas typically developing children relied more on situational cues. The exception was fear. When presented with incongruent information (i.e. a smiling boy surrounded by a swarm of bees), most children based their response on the situation and indicated that the boy felt scared. While the majority of typically developing children commented on the disparity between facial expressions and situational cues, children with autism spectrum disorder did not mention the conflicting cues. Although typically developing children were more accurate in recognizing emotion with situational cues, children with autism spectrum disorder were still adequate at identifying emotion from situational cues alone. These findings suggest that children with autism spectrum disorder show an understanding of simple emotions in prototypical situations, but may prefer facial expressions when facial expressions and situational cues are incongruent. Reasons for these findings are discussed.
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12. Zeidan-Chulia F, de Oliveira BH, Salmina AB, Casanova MF, Gelain DP, Noda M, Verkhratsky A, Moreira JC. {{Altered expression of Alzheimer’s disease-related genes in the cerebellum of autistic patients: a model for disrupted brain connectome and therapy}}. {Cell Death Dis};2014;5:e1250.
Autism and Alzheimer’s disease (AD) are, respectively, neurodevelopmental and degenerative diseases with an increasing epidemiological burden. The AD-associated amyloid-beta precursor protein-alpha has been shown to be elevated in severe autism, leading to the ‘anabolic hypothesis’ of its etiology. Here we performed a focused microarray analysis of genes belonging to NOTCH and WNT signaling cascades, as well as genes related to AD and apoptosis pathways in cerebellar samples from autistic individuals, to provide further evidence for pathological relevance of these cascades for autism. By using the limma package from R and false discovery rate, we demonstrated that 31% (116 out of 374) of the genes belonging to these pathways displayed significant changes in expression (corrected P-values <0.05), with mitochondria-related genes being the most downregulated. We also found upregulation of GRIN1, the channel-forming subunit of NMDA glutamate receptors, and MAP3K1, known activator of the JNK and ERK pathways with anti-apoptotic effect. Expression of PSEN2 (presinilin 2) and APBB1 (or F65) were significantly lower when compared with control samples. Based on these results, we propose a model of NMDA glutamate receptor-mediated ERK activation of alpha-secretase activity and mitochondrial adaptation to apoptosis that may explain the early brain overgrowth and disruption of synaptic plasticity and connectome in autism. Finally, systems pharmacology analyses of the model that integrates all these genes together (NOWADA) highlighted magnesium (Mg(2+)) and rapamycin as most efficient drugs to target this network model in silico. Their potential therapeutic application, in the context of autism, is therefore discussed.
