1. Baduel S, Guillon Q, Afzali MH, Foudon N, Kruck J, Roge B. {{The French Version of the Modified-Checklist for Autism in Toddlers (M-CHAT): A Validation Study on a French Sample of 24 Month-Old Children}}. {J Autism Dev Disord};2016 (Nov 5)
Early ASD screening has the potential to reduce delays between initial parental concerns and diagnosis, and promote early intervention. The aim of this study was to validate the M-CHAT on a French population sample of 24 month-old children. This study included a low-risk sample of 1227 children. A total of 20 children screened positive on the M-CHAT. Twelve out of 20 of these children received a diagnosis of ASD at 36 months, yielding a PPV of 0.60. These results add to the evidence that the M-CHAT is a useful screening instrument and further demonstrates the importance of the follow-up interview in primary care settings. This study provides French practitioners with guidelines regarding the use of the M-CHAT at 24 months.
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2. Choi CS, Gonzales EL, Kim KC, Yang SM, Kim JW, Mabunga DF, Cheong JH, Han SH, Bahn GH, Shin CY. {{The transgenerational inheritance of autism-like phenotypes in mice exposed to valproic acid during pregnancy}}. {Sci Rep};2016 (Nov 07);6:36250.
Autism spectrum disorder (ASD) is a heterogeneously pervasive developmental disorder in which various genetic and environmental factors are believed to underlie its development. Recently, epigenetics has been suggested as a novel concept for ASD aetiology with a proposition that epigenetic marks can be transgenerationally inherited. Based on this assumption of epigenetics, we investigated the transgenerational inheritance of ASD-like behaviours and their related synaptic changes in the VPA animal model of ASD. The first generation (F1) VPA-exposed offspring exhibited autistic-like impaired sociability and increased marble burying. They also showed increased seizure susceptibility, hyperactivity and decreased anxiety. We mated the VPA-exposed F1 male offspring with naive females to produce the second generation (F2), and then similarly mated the F2 to deliver the third generation (F3). Remarkably, the autism-like behavioural phenotypes found in F1 persisted to the F2 and F3. Additionally, the frontal cortices of F1 and F3 showed some imbalanced expressions of excitatory/inhibitory synaptic markers, suggesting a transgenerational epigenetic inheritance. These results open the idea that E/I imbalance and ASD-like behavioural changes induced by environmental insults in mice can be epigenetically transmitted, at least, to the third generation. This study could help explain the unprecedented increase in ASD prevalence.
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3. Conceicao IC, Rama MM, Oliveira B, Cafe C, Almeida J, Mouga S, Duque F, Oliveira G, Vicente AM. {{Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through insilico analysis of its functional structure}}. {Psychiatr Genet};2016 (Nov 7)
OBJECTIVE: The PARK2 gene encodes Parkin, a component of a multiprotein E3 ubiquitin ligase complex that targets substrate proteins for proteasomal degradation. PARK2 mutations are frequently associated with Parkinson’s disease, but structural alterations have also been described in patients with neurodevelopmental disorders (NDD), suggesting a pathological effect ubiquitous to neurodevelopmental and neurodegenerative brain processes. The present study aimed to define the critical regions for NDD within PARK2. MATERIALS AND METHODS: To clarify PARK2 involvement in NDDs, we examined the frequency and location of copy number variants (CNVs) identified in patients from our sample and reported in the literature and relevant databases, and compared with control populations. RESULTS: Overall, the frequency of PARK2 CNVs was higher in controls than in NDD cases. However, closer inspection of the CNV location in PARK2 showed that the frequency of CNVs targeting the Parkin C-terminal, corresponding to the ring-between-ring (RBR) domain responsible for Parkin activity, is significantly higher in NDD cases than in controls. In contrast, CNVs targeting the N-terminal of Parkin, including domains that regulate ubiquitination activity, are very common both in cases and in controls. CONCLUSION: Although PARK2 may be a pathological factor for NDDs, likely not all variants are pathogenic, and a conclusive assessment of PARK2 variant pathogenicity requires an accurate analysis of their location within the coding region and encoded functional domains.
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4. Da Paz NS, Wallander JL. {{Interventions that target improvements in mental health for parents of children with autism spectrum disorders: A narrative review}}. {Clin Psychol Rev};2016 (Oct 27);51:1-14.
Prevalence of autism spectrum disorders (ASD) suggest that one in 68 children is affected. With convincing evidence that parenting a child with ASD is associated with elevated distress and mental health problems, researchers have begun to investigate treatments that directly target parents’ psychological well-being. We conducted a narrative review of studies that empirically tested the effects of interventions targeting improvements in the mental health of parents of children with ASD. Following a range of search strategies, a total of 13 studies, seven randomized controlled trials (RCTs) and six pre-post test designs, met inclusion criteria. We calculated and reported effect sizes for all RCTs. On average, treatment produced medium to large effect sizes with improvements in parenting stress and general health, and reductions in depression and anxiety. Interventions that appeared promising included: Stress Management and Relaxation Techniques, Expressive Writing, Mindfulness-Based Stress Reduction, and Acceptance and Commitment Therapy. However, only one study conducted a follow-up assessment >3months post intervention. Study populations primarily consisted of English-speaking mothers, ages 39 to 42years. Conclusions were limited by small sample sizes, homogeneity of sample population, and reliance on self-report. Therefore, this body of research contains significant limitations in need of improvement for this field to move forward and benefit a sizable number of parents.
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5. de Valenzuela JS, Bird EK, Parkington K, Mirenda P, Cain K, MacLeod AA, Segers E. {{Access to Opportunities for Bilingualism for Individuals with Developmental Disabilities: Key Informant Interviews}}. {J Commun Disord};2016 (Sep – Oct);63:32-46.
The purpose of this article is to describe the results of a thematic analysis of 79 semi-structured interviews collected at six research sites in four countries in relation to the inclusion and exclusion of students with developmental disabilities (DD) in and from special education and bilingual opportunities. The participants were individuals with expertise either in special needs and/or language education to support bilingualism (e.g., second language (L2) instruction), who served as key informants about service delivery and/or policy in these areas. Six themes emerged as salient during the analysis: we include all kids, special needs drives it, time/scheduling conflicts, IEP/IPP/statement drives it, it’s up to the parents, and service availability. The results suggested that access to language programs and services is limited for children with DD, even though participants at all sites reported adherence to a philosophy of inclusion. A priority on special education services over language services was identified, as well as barriers to providing children with DD access to programs and services to support bilingual development. Some of these barriers included time and scheduling conflicts and limited service availability. Additionally, the role of parents in decision making was affirmed, although, in contrast to special education services, decision-making about participation or exemption from language programs was typically left up to the parents. Overall, the results suggest a need for greater attention to providing supports for both first (L1) and L2 language development for bilingual children with DD and greater access to available language programs.
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6. Duifhuis EA, den Boer JC, Doornbos A, Buitelaar JK, Oosterling IJ, Klip H. {{The Effect of Pivotal Response Treatment in Children with Autism Spectrum Disorders: A Non-randomized Study with a Blinded Outcome Measure}}. {J Autism Dev Disord};2016 (Nov 4)
Purpose of this quasi-experimental trial was to investigate the effect of Pivotal response treatment (PRT) versus treatment as usual (TAU) on autism symptoms. Children with autism spectrum disorder (ASD), aged 3-8 years, received either PRT (n = 11) or TAU (n = 13). Primary outcome measure was the total score on the Autism Diagnostic Observation Schedule at pre- and posttreatment. Additionally, general problem behavior and parental stress levels were measured. Children in the PRT condition improved on the primary outcome measure compared to the TAU group with a small effect size [partial eta2 = 0.22 (95 % CI 0.00-0.46)]. Neither group demonstrated significant changes in the secondary outcomes. This study suggests that PRT may improve autism symptoms in children with ASD over TAU.
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7. Escobar LF. {{Edward Aull, MD: The Parent’s Guide to the Medical World of Autism : Future Horizons, Inc 2013, ISBN 978-1-935274-89-6, $19.95 (soft cover)}}. {J Autism Dev Disord};2016 (Nov 5)
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8. Luleci NE, Hidiroglu S, Karavus M, Karavus A, Sanver FF, Ozgur F, Celik M, Celik SC. {{The pharmacists’ awareness, knowledge and attitude about childhood autism in Istanbul}}. {Int J Clin Pharm};2016 (Nov 5)
Background Being one of the key players in healthcare, pharmacists could have an important role in the early detection and care of children with autism, by familiarizing themselves with autism-related resources and helping families to find relevant professional resources. Objective The purpose of this study was to determine the awareness of pharmacists about autism, and their knowledge and attitude towards autism. Setting Istanbul Province of Turkey. Method This descriptive study was carried out in pharmacists working in Istanbul Province of Turkey in 7 municipalities out of 39. One hundred forty-one out of 150 pharmacists who agreed to participate in our study were interviewed with the help of questionnaires. Main outcome measure Knowledge about childhood ASD and the social characteristics thereoff amongst pharmacists. Results Minimum 33.4 and maximum 73.1 % of the pharmacists gave correct answers to each question. Furthermore pharmacists’ knowledge about causative factors of childhood ASD proved to be lacking and they tend to believe in outdated theories. The percentage of pharmacists believing that autism holds social stigma in this community was 66.0 %. Conclusion Pharmacists’ knowledge regarding ASD needs to be improved. Enhancing their awareness, especially about basic social characteristics of childhood ASD will help pharmacists direct families of children with ASD to responsible health authorities.
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9. Madden JM, Lakoma MD, Lynch FL, Rusinak D, Owen-Smith AA, Coleman KJ, Quinn VP, Yau VM, Qian YX, Croen LA. {{Psychotropic Medication Use among Insured Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov 5)
This study examined psychotropic medication use among 7901 children aged 1-17 with autism spectrum disorder (ASD) in five health systems, comparing to matched cohorts with no ASD. Nearly half (48.5 %) of children with ASD received psychotropics in the year observed; the most common classes were stimulants, alpha-agonists, or atomoxetine (30.2 %), antipsychotics (20.5 %), and antidepressants (17.8 %). Psychotropic treatment was far more prevalent among children with ASD, as compared to children with no ASD (7.7 % overall), even within strata defined by the presence or absence of other psychiatric diagnoses. The widespread use of psychotropics we observed, particularly given weak evidence supporting the effectiveness of these medications for most children with ASD, highlights challenges in ASD treatment and the need for greater investment in its evaluation.
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10. Marinova-Todd SH, Colozzo P, Mirenda P, Stahl H, Kay-Raining Bird E, Parkington K, Cain K, Scherba de Valenzuela J, Segers E, MacLeod AA, Genesee F. {{Professional practices and opinions about services available to bilingual children with developmental disabilities: An international study}}. {J Commun Disord};2016 (Sep – Oct);63:47-62.
This study aimed to gather information from school- and clinic-based professionals about their practices and opinions pertaining to the provision of bilingual supports to students with developmental disabilities. Using an online survey, data were collected in six socio-culturally and linguistically diverse locations across four countries: the United States, Canada, the United Kingdom, and the Netherlands. In total, 361 surveys were included in the analysis from respondents who were primarily teachers and speech-language pathologists working in schools, daycares/preschools, or community-based clinics. The overall picture that emerged from the data reflected a disconnection between practice and opinion. In general, respondents believed that children with both mild and severe disabilities are capable of learning a second language, although their opinions were more neutral for the latter group. However, children with both mild and severe disabilities who spoke only a minority language at home had less access to services for second language learners than did their typically developing peers, although respondents agreed that such services should be more available. Regardless of clinical group, children who lived in homes where a minority language was spoken were often exposed to, assessed in, and treated in the majority language only; again, respondents generally disagreed with these practices. Finally, second language classes were less available to children in the two disability groups compared to typically developing bilingual children, with general agreement that the opportunity to acquire a second language should be more available, especially to those with mild disabilities. Although the results indicate that there is a considerable gap between current practices and professional opinions, professionals appear to be more supportive of bilingual educational opportunities for these populations than was suggested by previous research.
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11. Pesco D, MacLeod AA, Kay-Raining Bird E, Cleave P, Trudeau N, de Valenzuela JS, Cain K, Marinova-Todd SH, Colozzo P, Stahl H, Segers E, Verhoeven L. {{A multi-site review of policies affecting opportunities for children with developmental disabilities to become bilingual}}. {J Commun Disord};2016 (Sep – Oct);63:15-31.
This review of special education and language-in-education policies at six sites in four countries (Canada, United States, United Kingdom, and Netherlands) aimed to determine the opportunities for bilingualism provided at school for children with developmental disabilities (DD). While research has demonstrated that children with DD are capable of learning more than one language (see Kay Raining Bird, Genesee, & Verhoeven, this issue), it was not clear whether recent policies reflect these findings. The review, conducted using the same protocol across sites, showed that special education policies rarely addressed second language learning explicitly. However, at all sites, the policies favoured inclusion and educational planning based on individual needs, and thus implied that students with DD would have opportunities for second language learning. The language-in-education policies occasionally specified the support individuals with special needs would receive. At some sites, policies and educational options provided little support for minority languages, a factor that could contribute to subtractive bilingualism. At others, we found stronger support for minority languages and optional majority languages: conditions that could be more conducive to additive bilingualism.
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12. Tillmann J, Swettenham J. {{Visual Perceptual Load Reduces Auditory Detection in Typically Developing Individuals but Not in Individuals With Autism Spectrum Disorders}}. {Neuropsychology};2016 (Nov 7)
Objective: Previous studies examining selective attention in individuals with autism spectrum disorder (ASD) have yielded conflicting results, some suggesting superior focused attention (e.g., on visual search tasks), others demonstrating greater distractibility. This pattern could be accounted for by the proposal (derived by applying the Load theory of attention, e.g., Lavie, 2005) that ASD is characterized by an increased perceptual capacity (Remington, Swettenham, Campbell, & Coleman, 2009). Recent studies in the visual domain support this proposal. Here we hypothesize that ASD involves an enhanced perceptual capacity that also operates across sensory modalities, and test this prediction, for the first time using a signal detection paradigm. Method: Seventeen neurotypical (NT) and 15 ASD adolescents performed a visual search task under varying levels of visual perceptual load while simultaneously detecting presence/absence of an auditory tone embedded in noise. Results: Detection sensitivity (d’) for the auditory stimulus was similarly high for both groups in the low visual perceptual load condition (e.g., 2 items: p = .391, d = 0.31, 95% confidence interval [CI] [-0.39, 1.00]). However, at a higher level of visual load, auditory d’ reduced for the NT group but not the ASD group, leading to a group difference (p = .002, d = 1.2, 95% CI [0.44, 1.96]). As predicted, when visual perceptual load was highest, both groups then showed a similarly low auditory d’ (p = .9, d = 0.05, 95% CI [-0.65, 0.74]). Conclusions: These findings demonstrate that increased perceptual capacity in ASD operates across modalities. (PsycINFO Database Record
