1. Babinska K, Tomova A, Celusakova H, Babkova J, Repiska G, Kubranska A, Filcikova D, Siklenkova L, Ostatnikova D. {{Fecal calprotectin levels correlate with main domains of the autism diagnostic interview-revised (ADI-R) in a sample of individuals with autism spectrum disorders from Slovakia}}. {Physiol Res}. 2017; 66(Supplementum 4): S517-s22.
Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by impaired social interaction and communication, as well as repetitive behavior and restricted interests. There is convincing evidence that the intestinal inflammation is involved in etiology of ASD. Increased levels of inflammatory markers were shown to be associated with more aberrant behaviors and communication of subjects with ASD. Calprotectin in the feces is produced by activated neutrophils and epithelial cells of the gut mucosa, and its levels reflect local inflammation of the gastrointestinal tract. Concentration of fecal calprotectin was determined by ELISA method in 87 individuals with ASD and 51 controls, of that 29 siblings of children with ASD and 22 non-related controls. In non-relatives significantly lower values of fecal calprotectin were observed than in both subjects with ASD and their siblings. In the group with ASD significant correlations of fecal calprotectin with all domains of the ADI-R diagnostic tool were found: qualitative abnormalities in reciprocal social interaction and communication, restrictive and repetitive patterns of behavior. Results suggest that low grade intestinal inflammation may be one of factors implicated in the pathophysiology of ASD.
2. Blanken LME, Dass A, Alvares G, van der Ende J, Schoemaker NK, El Marroun H, Hickey M, Pennell C, White S, Maybery MT, Dissanayake C, Jaddoe VWV, Verhulst FC, Tiemeier H, McIntosh W, White T, Whitehouse A. {{A prospective study of fetal head growth, autistic traits and autism spectrum disorder}}. {Autism Res}. 2018.
Altered trajectories of brain growth are often reported in Autism Spectrum Disorder (ASD), particularly during the first year of life. However, less is known about prenatal head growth trajectories, and no study has examined the relation with postnatal autistic symptom severity. The current study prospectively examined the association between fetal head growth and the spectrum of autistic symptom severity in two large population-based cohorts, including a sample of individuals with clinically diagnosed ASD. This study included 3,820 children from two longitudinal prenatal cohorts in The Netherlands and Australia, comprising 60 individuals with a confirmed diagnosis of ASD. Latent growth curve models were used to examine the relationship between fetal head circumference measured at three different time points and autistic traits measured in postnatal life using either the Social Responsiveness Scale or the Autism-Spectrum Quotient. While lower initial prenatal HC was weakly associated with increasing autistic traits in the Dutch cohort, this relationship was not observed in the Australian cohort, nor when the two cohorts were analysed together. No differences in prenatal head growth were found between individuals with ASD and controls. This large population-based study identified no consistent association across two cohorts between prenatal head growth and postnatal autistic traits. Our mixed findings suggest that further research in this area is needed. Autism Res 2018. (c) 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: It is not known whether different patterns of postnatal brain growth in Autism Spectrum Disorder (ASD) also occurs prenatally. We examined fetal head growth and autistic symptoms in two large groups from The Netherlands and Australia. Lower initial prenatal head circumference was associated with autistic traits in the Dutch, but not the Australian, group. No differences in head growth were found in individuals with ASD and controls when the data was combined. Our mixed findings suggest that more research in this area is needed.
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3. Bottema-Beutel K, Lloyd B, Watson L, Yoder P. {{Bidirectional influences of caregiver utterances and supported joint engagement in children with and without autism spectrum disorder}}. {Autism Res}. 2018.
This study examined sequential associations between pairs of caregiver talk and caregiver-child joint engagement categories. Sequential associations quantify the extent to which one event (such as a particular type of caregiver talk) follows another event (such as a particular type of joint engagement) in a pre-specified time window, while controlling for the chance occurrence of the sequence. Although unable to support strong conclusions about causality, the requirement of sequential analysis that key events occur within a close temporal sequence rules out alternative explanation for associations that summary-level correlations cannot. We applied sequential analysis to observational data on 98 caregiver-child dyads, fifty of which included a child with autism spectrum disorder (ASD). Groups were matched on mental age, and all were just beginning to develop spoken vocabulary. Sequential associations between supported joint engagement and caregiver follow-in utterances were stronger in ASD dyads as compared to dyads with typically developing children. Further, sequential associations between utterances related to the child’s focus of attention followed by higher order supported joint engagement (HSJE) were stronger than between utterances that related to the caregiver’s focus of attention and HSJE, across both groups. Finally, sequential associations between follow-in directives followed by HSJE were stronger than between follow-in comments followed by HSJE, again across both groups of children. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary: Our findings suggest that caregivers of children with autism spectrum disorder (ASD) may be particularly adept at timing their talk to follow moments of high-level joint engagement, and that follow-in directives are particularly facilitative of high-level joint engagement. Future intervention work can capitalize on these findings to support high level caregiver-child engagement around toys, which may promote development in children with ASD.
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4. Burhop J, Gibson J, de Boer J, Heydarian C. {{Do You C What I C: Emergency Department Evaluation and Diagnosis of Pediatric Scurvy in an Autistic Child With a Restricted Diet}}. {Pediatric emergency care}. 2018.
Scurvy in modern times may not be as rare as previously thought. The link between adequate intake of vitamin C and scurvy has been known since ancient times and is recorded in Ebers Papyrus. Recent reports indicate that, with restricted diets, vitamin C deficiency is being seen in infants exclusively fed plant-based formula and children with oral aversion, autism, restricted diets, and cerebral palsy. Additional at-risk groups include the older adults and patients having alcoholism. Often costly, emergency department visits and elaborate diagnostic studies lead to fruitless results when a simple diet history is often overlooked. Here, we report a case of pediatric scurvy in an 11-year-old autistic child with a restricted diet who presented with refusal to walk, fatigue, a purpuric rash, and gingival bleeding. The diagnosis was made based on diet history, physical examination findings, and symptom resolution with vitamin C supplementation. Our case report reaffirms that vitamin C deficiency still occurs and should be considered in children with restrictive diets. Early recognition of this disease by physicians provides early diagnosis, avoids costly diagnostic workup and hospitalization, and expedites effective treatment.
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5. Carrette LLG, Wang CY, Wei C, Press W, Ma W, Kelleher RJ, 3rd, Lee JT. {{A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018; 115(4): E668-e75.
The X-chromosome harbors hundreds of disease genes whose associated diseases predominantly affect males. However, a subset, including neurodevelopmental disorders, Rett syndrome (RTT), fragile X syndrome, and CDKL5 syndrome, also affects females. These disorders lack disease-specific treatment. Because female cells carry two X chromosomes, an emerging treatment strategy has been to reawaken the healthy allele on the inactive X (Xi). Here, we focus on methyl-CpG binding protein 2 (MECP2) restoration for RTT and combinatorially target factors in the interactome of Xist, the noncoding RNA responsible for X inactivation. We identify a mixed modality approach combining an Xist antisense oligonucleotide and a small-molecule inhibitor of DNA methylation, which, together, achieve 30,000-fold MECP2 up-regulation from the Xi in cultured cells. Combining a brain-specific genetic Xist ablation with short-term 5-aza-2′-deoxycytidine (Aza) treatment models the synergy in vivo without evident toxicity. The Xi is selectively reactivated. These experiments provide proof of concept for a mixed modality approach for treating X-linked disorders in females.
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6. Cassidy SA, Bradley L, Bowen E, Wigham S, Rodgers J. {{Measurement properties of tools used to assess depression in adults with and without autism spectrum conditions: A systematic review}}. {Autism Res}. 2018.
Depression is the most commonly experienced mental health condition in adults with autism spectrum conditions (ASC). However, it is unclear what tools are currently being used to assess depression in ASC, or whether tools need to be adapted for this group. This systematic review therefore aimed to identify tools used to assess depression in adults with and without ASC, and then evaluate these tools for their appropriateness and measurement properties. Medline, PsychINFO and Web of Knowledge were searched for studies of depression in: (a) adults with ASC, without co-morbid intellectual disability; and (b) adults from the general population without co-morbid conditions. Articles examining the measurement properties of these tools were then searched for using a methodological filter in PubMed, and the quality of the evidence was evaluated using the COSMIN checklist. Twelve articles were identified which utilized three tools to assess depression in adults with ASC, but only one article which assessed the measurement properties of one of these tools was identified and thus evaluated. Sixty-four articles were identified which utilized five tools to assess depression in general population adults, and fourteen articles had assessed the measurement properties of these tools. Overall, two tools were found to be robust in their measurement properties in the general population-the Beck Depression Inventory (BDI-II), and the patient health questionnaire (PHQ-9). Crucially only one study was identified from the COSMIN search, which showed weak evidence in support of the measurement properties of the BDI-II in an ASC sample. Implications for effective measurement of depression in ASC are discussed. Autism Res 2018. (c) 2018 The Authors Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. LAY SUMMARY: Depression is the most common mental health problem experienced by adults with autism. However, the current study found very limited evidence regarding how useful tools developed for the general population are for adults with autism. We therefore suggest how these tools could be adapted to more effectively assess depression in adults with autism, and improve these individuals access to mental health assessment and support.
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7. Coo H, Ouellette-Kuntz H, Brownell M, Shooshtari S, Hanlon-Dearman A. {{Validating an administrative data-based case definition for identifying children and youth with autism spectrum disorder for surveillance purposes}}. {Canadian journal of public health = Revue canadienne de sante publique}. 2018; 108(5-6): e530-e8.
OBJECTIVES: To evaluate the sensitivity and positive predictive value (PPV) of administrative health and education data for identifying cases of autism spectrum disorder (ASD) in Manitoba, and to recommend a surveillance case definition. METHODS: Four service providers abstracted information on children who had been clinically diagnosed with ASD (« sensitivity cohort »). That information was linked to Manitoba’s administrative health and education data and records were extracted into the study dataset. Records were also included for children who had an administrative diagnosis of ASD but who were not part of the sensitivity cohort. Study packages were mailed to the parents of the latter group in order to verify their diagnostic status. The sensitivity and PPV of various case definitions were calculated. RESULTS: Among the 1728 service provider-reported cases, 1532 had an administrative diagnosis of ASD. A total of 2414 children had an administrative diagnosis, of whom 882 were not part of the sensitivity cohort. The response to the mail-out was very poor (<3%). Accordingly, we calculated minimum PPVs. Our recommended surveillance case definitions are >/=1 physician claim (ICD-9-CM 299) or >/=1 « ASD » special education record (2-5 years of age), and >/=2 physician claims or >/=1 « ASD » special education record (6-14 years of age). The sensitivity ranged from 80% (95% CI: 77-83) to 88% (95% CI: 83-91) and the minimum PPV from 70% (95% CI: 67-73) to 78% (95% CI: 75-81) for these definitions. CONCLUSION: This work advances the goal of establishing a cost-effective national surveillance system for ASD.
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8. Falck-Ytter T, Nystrom P, Gredeback G, Gliga T, Bolte S. {{Reduced orienting to audiovisual synchrony in infancy predicts autism diagnosis at 3 years of age}}. {J Child Psychol Psychiatry}. 2018.
BACKGROUND: Effective multisensory processing develops in infancy and is thought to be important for the perception of unified and multimodal objects and events. Previous research suggests impaired multisensory processing in autism, but its role in the early development of the disorder is yet uncertain. Here, using a prospective longitudinal design, we tested whether reduced visual attention to audiovisual synchrony is an infant marker of later-emerging autism diagnosis. METHODS: We studied 10-month-old siblings of children with autism using an eye tracking task previously used in studies of preschoolers. The task assessed the effect of manipulations of audiovisual synchrony on viewing patterns while the infants were observing point light displays of biological motion. We analyzed the gaze data recorded in infancy according to diagnostic status at 3 years of age (DSM-5). RESULTS: Ten-month-old infants who later received an autism diagnosis did not orient to audiovisual synchrony expressed within biological motion. In contrast, both infants at low-risk and high-risk siblings without autism at follow-up had a strong preference for this type of information. No group differences were observed in terms of orienting to upright biological motion. CONCLUSIONS: This study suggests that reduced orienting to audiovisual synchrony within biological motion is an early sign of autism. The findings support the view that poor multisensory processing could be an important antecedent marker of this neurodevelopmental condition.
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9. George R, Stokes MA. {{A Quantitative Analysis of Mental Health Among Sexual and Gender Minority Groups in ASD}}. {J Autism Dev Disord}. 2018.
There is increased mental-health adversity among individuals with autism spectrum disorder. At the same time, sexual and gender minority groups experience poorer mental-health when compared to heteronormative populations. Recent research suggests that autistic individuals report increased non-heterosexuality and gender-dysphoric traits. The current study aimed to investigate whether as membership of minority grouping becomes increasingly narrowed, mental health worsened. The present study compared the rates of depression, anxiety, and stress using the DASS-21 and Personal Well-Being using the personal well-being index between 261 typically-developing individuals and 309 autistic individuals. As membership to a minority group became more restrictive, mental health symptoms worsened (p < .01), suggesting stressors added. Specialized care is recommended for this vulnerable cohort. Lien vers le texte intégral (Open Access ou abonnement)
10. Hamed NO, Al-Ayadhi L, Osman MA, Elkhawad AO, Qasem H, Al-Marshoud M, Merghani NM, El-Ansary A. {{Understanding the roles of glutamine synthetase, glutaminase, and glutamate decarboxylase autoantibodies in imbalanced excitatory/inhibitory neurotransmission as etiological mechanisms of autism}}. {Psychiatry and clinical neurosciences}. 2018.
AIM: Autism is a heterogeneous neurological disorder that is characterized by impairments in communication and social interactions, repetitive behaviors, and sensory abnormalities. The etiology of autism remains unclear. Animal, genetic, and post-mortem studies suggest that an imbalance exists in the neuronal excitation and inhibition system in autism. The aim of this study was to determine whether alterations of the measured parameters in children with autism are significantly associated with the risk of a sensory dysfunction. METHODS: The glutamine synthetase (GS), kidney-type glutaminase (GLS1), and glutamic acid decarboxylase autoantibody levels were analyzed in 38 autistic children and 33 age- and sex-matched controls using enzyme-linked immunosorbent assays. RESULTS: The obtained data demonstrated significant alterations in glutamate and glutamine cycle enzymes, as represented by GS and GLS1, respectively. While the glutamic acid decarboxylase autoantibodies levels were remarkably increased, no significant difference was observed compared to the healthy control participants. CONCLUSION: The obtained data indicate that GS and GLS1 are promising indicators of a neuronal excitation and inhibition system imbalance and that combined measured parameters are good predictive biomarkers of autism.
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11. McCormick CEB, Sheinkopf SJ, Levine TP, LaGasse LL, Tronick E, Lester BL. {{Diminished respiratory sinus arrhythmia response in infants later diagnosed with autism spectrum disorder}}. {Autism Res}. 2018.
Indicators of risk for developing Autism Spectrum Disorder (ASD) are difficult to detect within the first year of life. In this study, infants who were originally followed prospectively to examine general developmental risks due to substance exposure interacted with their mother and an unfamiliar experimenter for 2-min episodes at 4 months of age. Electrocardiogram was collected to measure respiratory sinus arrhythmia (RSA) and the session was video recorded for behavioral coding. Two groups of infants were compared: infants with a diagnosed ASD outcome (N = 8) and matched controls (N = 186). Infants were compared on mean RSA and infant behavioral codes for each 2-min episode. No significant group differences were revealed on RSA or behavior during interactions between the infants and mothers. However, in response to play with a stranger, infants with an ASD outcome had lower RSA (M = 2.49, 95% CI [2.30, 2.98]) than controls (M = 3.12, 95% CI [3.06, 3.18]). During the interaction with a stranger, lower RSA response was associated with more protesting behaviors (P < 0.01), whereas higher RSA response was associated with more social monitoring (P = 0.001). Lower RSA suggests that 4-month-old infants later diagnosed with ASD exhibited poorer autonomic regulation during interaction with an unfamiliar adult than did controls. Physiological regulation during interactions with a new social partner may be disrupted early in infancy in children with ASD, as indicated here by lower RSA, and therefore be a potential target for developing early risk screening tools for ASD. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism Spectrum Disorder (ASD) emerges within the first years of life; however, it is difficult to identify children who will develop autism before 12 months of age based on behavioral measures. In a study of infants who were followed from birth, infants who were later diagnosed with ASD had poorer physiological regulation during play with a new adult. With additional evidence, poorer physiological regulation may function as an early sign of ASD risk. Lien vers le texte intégral (Open Access ou abonnement)
12. Nunes AS, Peatfield N, Vakorin V, Doesburg SM. {{Idiosyncratic organization of cortical networks in autism spectrum disorder}}. {Neuroimage}. 2018.
Neuroimaging studies of Autism Spectrum Disorder (ASD) have yielded inconsistent results indicating either increases or decreases in functional connectivity, or both. Recent findings suggest that these seemingly divergent results might be underpinned by greater inter-individual variability in brain network connectivity in ASD. We tested the hypothesis that the spatial patterns of intrinsic connectivity networks (ICNs) are more idiosyncratic in ASD, and demonstrated that this increased variability is associated with symptomatology. We estimated whole brain functional connectivity based on resting state functional magnetic resonance imaging (fMRI) data obtained from the Autism Brain Imaging Data Exchange I & II (ABIDE I & II) repository: 422 (69 females) participants with ASD and 424 (59 females) typically developing (TD) participants between 6 and 30 years of age. We clustered individuals’ patterns of resting state functional connectivity into seven networks, each representing an ICN, and assessed the heterogeneity of each vertex on the cortical surface across individuals in terms of its incorporation into a particular ICN. We found that the incorporation of individual anatomical locations (vertices) to a common network was less consistent across individuals in ASD, indicating a more idiosyncratic organization of ICNs in the ASD brain. This spatial shifting effect was particularly pronounced in the Sensory-Motor Network (SMN) and the Default Mode Network (DMN). We also found that this idiosyncrasy in large-scale brain network organization was correlated with ASD symptomatology (ADOS). These results support the view that idiosyncratic functional connectivity is a hallmark of the ASD brain. We provide the first evidence that the anatomical organization of ICNs is idiosyncratic in ASD, as well as providing evidence that such abnormalities in brain network organization may contribute to the symptoms of ASD.
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13. Roberts JMA, Adams D, Heussler H, Keen D, Paynter J, Trembath D, Westerveld M, Williams K. {{Protocol for a prospective longitudinal study investigating the participation and educational trajectories of Australian students with autism}}. {BMJ Open}. 2018; 8(1): e017082.
INTRODUCTION: Autism is associated with high cost to individuals, families, communities and government. Understanding educational and participation trajectories during the school years, and factors influencing these, is fundamental to reducing financial and personal costs. The primary aim of this study is to document the trajectories of Australian students with autism during their education. The secondary aim is to examine personal (eg, student skills) and environmental (eg, school setting) factors associated with differing trajectories and outcomes. METHODS AND ANALYSIS: The cross-sequential longitudinal study will recruit two cohorts of 120 parents/caregivers of children with autism. Cohort 1 aged between 4 and 5 years and cohort 2 between 9 and 10 years to start the study. Information will be gathered from parents, teachers and school principals at six annual time points (T1 to T6). Parents will be emailed a link to an online initial questionnaire (T1) and then contacted annually and asked to complete either an extended questionnaire (T3, T5 and T6) or an abbreviated questionnaire (T2, T4). Where consent is given, the child’s current school will be contacted annually (T1 to T6) and teacher and school principal asked to complete questionnaires about the child and school. Parent and school questionnaires are comprised of questions about demographic and school factors that could influence trajectories and a battery of developmental and behavioural assessment tools designed to assess educational and participation trajectories and outcomes. Surveys will provide longitudinal data on educational and participation trajectories for children and adolescents with autism. In addition cross-sectional comparisons (within or between age groups) at each time point and cohort effects will be explored. ETHICS AND DISSEMINATION: Ethics approvals have been granted for this study by all recruiting sites and universities in the project. Study findings will inform policy and practice to promote successful inclusion and participation of children with autism in education. Results will be disseminated through journal publication, conference and seminar presentation.
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14. Rodgers J, Ofield A. {{Understanding, Recognising and Treating Co-occurring Anxiety in Autism}}. {Current developmental disorders reports}. 2018; 5(1): 58-64.
Purpose of Review: Autistic people are at increased risk of anxiety, with around 50% of autistic adults and children experiencing this debilitating mental health condition. The purpose of this review is to consider some contemporary ideas about underlying mechanisms for anxiety in autism, explore issues in the identification and assessment of anxiety and discuss emerging trends in anxiety interventions for autistic people, before identifying some important next steps in the field. Recent Findings: Emerging evidence suggests that anxiety may present differently in autism compared to the general population and that whilst CBT holds promise, there may be important differences in neurobiological, affective and cognitive responses to stressors for autistic people, which warrant tailored anxiety models, assessments and interventions. Summary: We conclude that research is needed to develop and evaluate theoretical frameworks, assessment methods and interventions for anxiety in autism, particularly for autistic adults and those with co-occurring intellectual disability.
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15. Sacrey LR, Zwaigenbaum L, Bryson S, Brian J, Smith IM, Roberts W, Szatmari P, Vaillancourt T, Roncadin C, Garon N. {{Parent and clinician agreement regarding early behavioral signs in 12- and 18-month-old infants at-risk of autism spectrum disorder}}. {Autism Res}. 2018.
Parent and clinician agreement regarding early behavioral signs of Autism Spectrum Disorder (ASD) in children from a high-risk cohort (siblings of children diagnosed with ASD, n = 188) was examined. Infants were assessed prospectively at 12 and 18 months of age using the clinician administered Autism Observational Scale for Infants (AOSI) and the Autism Parent Screen for Infants (APSI) and underwent a blind independent diagnostic assessment for ASD at 36 months of age. Direct comparison of parent and clinician ratings showed poor agreement on all early behavioral signs, with parent-reported symptoms being better able to differentiate between children with and without ASD at both 12 and 18 months of age compared to clinician observations during a brief office visit. The results suggest that parents may detect some clinically informative behaviors based on their day-to-day observations more readily than do clinicians during brief clinical assessments, a result that needs to be replicated in a non-sibling cohort. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Parents of children at high-risk of autism spectrum disorder (ASD; have an older sibling with ASD) and clinicians were compared on their reporting of 19 early signs of autism. Direct comparison of parent and clinician ratings showed poor agreement on all early behavioral signs, with parent-reported symptoms being better able to differentiate between children with and without ASD at both 12 and 18 months of age compared to clinician observations during a brief office visit. This suggests that parents may have important information regarding early development of their high-risk child.
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16. Thompson GA, Abel LA. {{Fostering Spontaneous Visual Attention in Children on the Autism Spectrum: A Proof-of-Concept Study Comparing Singing and Speech}}. {Autism Res}. 2018.
Children on the autism spectrum are reported to have lower rates of social gaze as early as toddlerhood, and this pattern persists across the lifespan. Finding ways to promote more natural and spontaneous engagement in social interactions may help to boost developmental opportunities in the child’s home and community settings. This proof-of-concept study hypothesized that a video of a singer would elicit more attention to the performer, particularly to her face, than a video of her reading a story, and that the child’s familiarity with the material would enhance attention. Sixteen children on the autism spectrum (7-10 years old) watched 4 videos 1 min long comprising a favorite song or story, and an unfamiliar song and story. Eye movements were recorded, and three-way repeated measures ANOVAs examined the proportion of total valid visual dwell time and fixations, in each trial and each target area. For proportion of both dwell time and fixation counts, children were significantly more likely to look at the performer’s face and body and less at the prop during singing than story-telling and when familiar rather than unfamiliar material was presented. These findings raise important issues for supporting children to naturally initiate looking toward a person’s face. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Children on the autism spectrum may have difficulty looking at people, particularly their faces. In this study, children watched videos of someone singing or reading a story. The results show that children look more at the person if they were singing and if the story was familiar to them. Using songs and familiar stories may be a way to help children with autism to naturally engage with others.
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17. Ullman JC, Yang J, Sullivan M, Bendor J, Levy J, Pham E, Silm K, Seifikar H, Sohal VS, Nicoll RA, Edwards RH. {{A mouse model of autism implicates endosome pH in the regulation of presynaptic calcium entry}}. {Nat Commun}. 2018; 9(1): 330.
Psychoactive compounds such as chloroquine and amphetamine act by dissipating the pH gradient across intracellular membranes, but the physiological mechanisms that normally regulate organelle pH remain poorly understood. Interestingly, recent human genetic studies have implicated the endosomal Na(+)/H(+) exchanger NHE9 in both autism spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD). Plasma membrane NHEs regulate cytosolic pH, but the role of intracellular isoforms has remained unclear. We now find that inactivation of NHE9 in mice reproduces behavioral features of ASD including impaired social interaction, repetitive behaviors, and altered sensory processing. Physiological characterization reveals hyperacidic endosomes, a cell-autonomous defect in glutamate receptor expression and impaired neurotransmitter release due to a defect in presynaptic Ca(2+) entry. Acute inhibition of synaptic vesicle acidification rescues release but without affecting the primary defect due to loss of NHE9.
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18. Ummer-Christian R, Iacono T, Grills N, Pradhan A, Hughes N, Gussy M. {{Access to dental services for children with intellectual and developmental disabilities – A scoping review}}. {Res Dev Disabil}. 2018; 74: 1-13.
BACKGROUND: Children with Intellectual and Developmental Disabilities (IDD) face considerable challenges in participating in dental services. These challenges include resource constraints and inadequate skills of health service providers to work with this population. AIM: The aim was to scope published studies that addressed access to dental services for children with IDD in order to determine the extent to which various barriers have been researched, using an access framework derived from the literature. Access was defined to include the six dimensions of accessibility, availability, affordability, accommodation, acceptability, and appropriateness. METHOD: Arksey and O’Malley’s scoping review framework was used. Relevant databases (e.g., Medline) were searched for all empirical studies conducted from January 2000 to February 2017 that met inclusion criteria. Data were extracted along the six dimensions of the access framework. RESULTS: Sixteen international studies were identified which indicated common key barriers to dental service use: the difficulties of physical inaccessibility, lack of access to information among carers, lack of knowledge of disability issues, and low experience and skills in caring for children with IDD among dental practitioners. CONCLUSIONS: Key recommendations made were exploring dental practitioners’ understanding of disability legislation and developing training for practitioners to expand on issues specific to IDD.
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19. Zaidman-Zait A, Mirenda P, Szatmari P, Duku E, Smith IM, Vaillancourt T, Volden J, Waddell C, Bennett T, Zwaigenbaum L, Elsabaggh M, Georgiades S. {{Profiles of Social and Coping Resources in Families of Children with Autism Spectrum Disorder: Relations to Parent and Child Outcomes}}. {J Autism Dev Disord}. 2018.
This study described empirically derived profiles of parents’ personal and social coping resources in a sample of 207 families of children diagnosed with autism spectrum disorder. Latent Profile Analysis identified four family profiles based on socieoeconomic risk, coping strategy utilization, family functioning, available social supports, and perceptions of family-centered support. During the time of children’s transition to school, parents in the most disadvantaged group experienced the highest levels of parenting stress and depression, and their children had significantly lower adaptive behaviour scores and more parent-reported behavior problems than children in the other three groups. Results highlight the need for systematic surveillance of family risk factors so that supports can be provided to enhance both parental well-being and children’s developmental health.
