1. Burke M, Arnold C, Owen A. {{Identifying the Correlates and Barriers of Future Planning Among Parents of Individuals With Intellectual and Developmental Disabilities}}. {Intellectual and developmental disabilities}. 2018; 56(2): 90-100.
Although individuals with intellectual and developmental disabilities (IDD) are living longer lives, fewer than half of parents of individuals with IDD conduct future planning. The correlates and barriers to future planning must be identified to develop targeted interventions to facilitate future planning. In this study, 388 parents of individuals with IDD responded to a national, web-based survey. Participants who were older, more educated, attended more parent training and support activities, and had children with fewer functional abilities, were more likely to engage in future planning. Reported barriers to future planning included: (a) lack of available services, (b) financial challenges, (c) reluctance of family members, (d) lack of time, (e) the emotional nature of future planning, (f) inertia, and (g) a lack of family members to be caregivers. Implications for policy, practice, and future research are discussed.
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2. Carlsson E, Miniscalco C, Gillberg C, Asberg Johnels J. {{Assessing False-Belief Understanding in Children with Autism Using a Computer Application: A Pilot Study}}. {Journal of psycholinguistic research}. 2018.
We have developed a False-Belief (FB) understanding task for use on a computer tablet, trying to assess FB understanding in a less social way. It is based on classical FB protocols, and additionally includes a manipulation of language in an attempt to explore the facilitating effect of linguistic support during FB processing. Specifically, the FB task was presented in three auditory conditions: narrative, silent, and interference. The task was assumed to shed new light on the FB difficulties often observed in Autism Spectrum Disorder (ASD). Sixty-eight children with ASD (M = 7.5 years) and an age matched comparison group with 98 typically developing (TD) children were assessed with the FB task. The children with ASD did not perform above chance level in any condition, and significant differences in success rates were found between the groups in two conditions (silent and narrative), with TD children performing better. We discuss implications, limitations, and further developments.
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3. El-Ansary A, Bacha AB, Bjorklund G, Al-Orf N, Bhat RS, Moubayed N, Abed K. {{Probiotic treatment reduces the autistic-like excitation/inhibition imbalance in juvenile hamsters induced by orally administered propionic acid and clindamycin}}. {Metabolic brain disease}. 2018.
Increasing evidence suggests that the gut microbiota plays a key role in the central nervous system (CNS), and alterations of the gut microbiota composition due to environmental factors can contribute to neurodevelopmental disorders. Animal modeling may help to identify drugs that can normalize the altered gut microbiota and thereby ameliorate abnormal brain signaling pathways. The purpose of the present study was to investigate the therapeutic potency of probiotics such as Bifidobacteria and Lactobacilli on glutamate excitotoxicity as a neurotoxic effect induced by clindamycin and propionic acid (PPA) in juvenile hamsters. Fifty young golden Syrian hamsters weighing between 60 and 70 g were enrolled in the study. The hamsters were randomly divided into five groups, each with ten hamsters. The hamsters in the control group only received phosphate-buffered saline orally. The PPA-treated group received a neurotoxic dose of 250 mg PPA/kg body weight (BW)/day for three days. The clindamycin-treated group received 30 mg clindamycin/kg BW as a single orogastric dose on the day the experiment started. The two therapeutic groups received the same doses of PPA and clindamycin followed by 0.2 g probiotic/kg BW for three weeks. Biochemical parameters related to glutamate excitotoxicity were investigated in brain homogenates from each group of hamsters. Additionally, the development of pathogenic bacteria was monitored in stool samples from all groups. The microbiology results of the present study revealed descriptive changes in the fecal microbiota and the appearance of Clostridium species in the hamsters treated with clindamycin and PPA. Additionally, the effectiveness of the probiotic in the restoration of the normal gut microbiota was demonstrated. Moreover, clindamycin and PPA were found to induce a significant depletion of Mg(2+) and gamma-aminobutyric acid (GABA) and a remarkable increase in the Na(+)/Mg(2+) and glutamate/GABA ratios but non-significant changes in the absolute levels of K(+), Na(+) and glutamate. The bacteria overgrowth induced by PPA and clindamycin in the present study effectively showed signs of neuronal toxicity. The study indicates that probiotics can be used safely to ameliorate glutamate excitotoxicity mostly through increasing depleted GABA and Mg(2+) and decreasing the excitatory neurotransmitter, glutamate.
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4. Fabio RA, Gangemi A, Capri T, Budden S, Falzone A. {{Neurophysiological and cognitive effects of Transcranial Direct Current Stimulation in three girls with Rett Syndrome with chronic language impairments}}. {Res Dev Disabil}. 2018; 76: 76-87.
BACKGROUND: this study was based on both neurophysiological decelerated activity and communication deficits in Rett Syndrome (RTT). AIMS: the aim was to examine the neurophysiological and cognitive effects of Transcranial Direct Current Stimulation (tDCS) in three girls with RTT with chronic language impairments. METHODS AND PROCEDURES: we proposed an integrated intervention: tDCS and cognitive empowerment applied to language in order to enhance speech production (new functional sounds and new words). Because maximal gains usually are achieved when tDCS is coupled with behavioral training, we applied tDCS stimulation on Broca’s area together with linguistic training. OUTCOMES AND RESULTS: the results indicated a general enhancement in language abilities (an increase in the number of vowel/consonant sounds and words and the production and comprehension through discrimination), motor coordination (functional movements), and neurophysiological parameters (an increase in the frequency and power of alpha, beta and theta bands). CONCLUSION AND IMPLICATIONS: we assume that tDCS stimulation combined with the cognitive empowerment applied to language can significantly influence a chronic impairment even in genetic syndromes. Our results provide data that support the role of tDCS in fostering brain plasticity and in particular in empowering speech production and comprehension in girls with RTT.
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5. Frank F, Jablotschkin M, Arthen T, Riedel A, Fangmeier T, Holzel LP, Tebartz van Elst L. {{Education and employment status of adults with autism spectrum disorders in Germany – a cross-sectional-survey}}. {BMC Psychiatry}. 2018; 18(1): 75.
BACKGROUND: Adults with autism spectrum disorders (ASD) experience challenges in participating in the labour market and struggle to achieve and maintain appropriate professional positions, possibly due to impairments of communication and social interaction. Studies have shown high rates of unemployment as well as evidence of inadequate employment. As knowledge on the participation in the German labour market is scarce, the aim of our study was to examine employment status, type of occupation and inadequate employment in a sample of clinically mostly late-diagnosed and most likely not intellectually disabled adults with ASD in Germany. METHODS: We conducted a cross-sectional-survey in clinically mostly late-diagnosed adults with ASD. Employment status, type of occupation, and the level of formal education and training were examined through a postal questionnaire. Inadequate employment regarding participants’ current and longest practised occupation was assessed by transforming participants’ information into skill levels of the « Classification of Occupations 2010 » of the German Federal Employment Agency, and comparing these with participants’ level of formal education and training. RESULTS: The response rate was 43.2% (N = 185 of N = 428 potential participants). 94.6% were first-time diagnosed when being 18 years of age or older. 56.8% held a general university entrance-level qualification and 24.9% had obtained a Masters’ or diploma degree as their highest vocational qualification. 94.1% had been employed at some time. Of these, 68.4% reported being currently employed, 13.5% being currently unemployed and 17.0% being retired for health reasons. Regarding the longest-practised and the current occupation, the highest proportion of participants was found in the occupational area « health and social sector, teaching and education » (22.4% and 23.3%, respectively). With respect to inadequate employment, 22.1% were found to be overeducated in relation to their longest-practised occupation and 31.3% in relation to their current occupation. This is significantly higher than the percentage of overeducation in the general population. CONCLUSIONS: Despite largely high formal qualifications, the clinically mostly late-diagnosed adults with ASD represented in our sample are disadvantaged regarding their participation in the German labour market, especially with respect to rates of unemployment, early retirement and overeducation. Employment support programs should be developed to improve employment outcomes.
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6. Fujiura GT, Li H, Magana S. {{Health Services Use and Costs for Americans With Intellectual and Developmental Disabilities: A National Analysis}}. {Intellectual and developmental disabilities}. 2018; 56(2): 101-18.
Health services and associated costs for adults with intellectual and developmental disabilities (IDD) were nationally profiled and the predictors of high expense users statistically modeled. Using linked data from the National Health Interview Survey and Medical Expenditure Panel Survey for the years 2002 through 2011, the study found a mixed pattern of differences in rates of service use and costs when compared to the general population depending upon personal characteristics, health status, and type of health care service. Prescription medication costs were the primary driver of total health care expenditures for Americans with IDD. The presence of secondary chronic health conditions and poor mental health status were the consistent predictors of high expense users across types of health care. Study results are discussed in terms of implications for more nuanced evaluations of health care costs and need for recurring surveillance of health care for Americans with IDD in the years following passage of the Patient Protection and Affordable Care Act.
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7. Lemay JF, Lanzinger S, Pacaud D, Plener PL, Furst-Burger A, Biester T, Hilgard D, Lilienthal E, Galler A, Berger G, Holl RW. {{Metabolic Control of Type 1 Diabetes in Youth with Autism Spectrum Disorder: a Multicenter DPV analysis based on 61,749 patients up to 20 years of age}}. {Pediatric diabetes}. 2018.
A paucity of reports in the literature exists concerning the co-existence between Autism Spectrum Disorder (ASD) and type 1 diabetes (T1D). OBJECTIVE: To compare clinical characteristics, diabetes management and metabolic control in youth with T1D and ASD (T1D-ASD) with youth without ASD (T1D-non ASD). PATIENTS AND METHODS: Using the German/Austrian diabetes patient follow-up registry (DPV), this study analyzed aggregated data from the last available year of observation for each patient with T1D, ages 1-20 with consistent data on insulin regimen and glycated hemoglobin (A1C), between January 2005-March 2017. RESULTS: From 61,749 patients, 150 (0.24%) were identified as T1D-ASD. Non-adjusted comparisons showed similar results for mean age at onset and duration of diabetes, but not for gender (male: T1D-ASD: 85.3%; T1D-non ASD: 52.8%; p<0.001). Unadjusted comparisons showed no difference for severe hypoglycemia, diabetic ketoacidosis, insulin doses, insulin pump therapy, and body mass index. A statistical difference was observed for A1C (p-value 0.01) and in the number of blood glucose (SMBG) tests/day (median [interquartile range]: T1D-ASD 6.0 [4.4-7.0]; T1D-non ASD 5.0 [4.4-7.0]; p-value<0.001). After adjusting for age, gender, duration of diabetes, and year of observation, only SMBG remained significant (p-value 0.003). T1D-ASD used psycho-stimulants (15.3% vs. 2.2%; p-value<0.001), anti-psychotics (10.7% vs. 0.6%; p-value<0.001), and anti-depressive medications (3.6% vs. 0.7%; p-value<0.001) more frequently. CONCLUSION: Metabolic control was similar in the T1D-ASD group compared to T1D-non ASD despite their comorbidity. Awareness of ASD remains important in T1D treatment, as both conditions require long-term multi-disciplinary medical follow-up for optimal outcomes. Lien vers le texte intégral (Open Access ou abonnement)
8. Li SJ, Wang Y, Qian L, Liu G, Liu SF, Zou LP, Zhang JS, Hu N, Chen XQ, Yu SY, Guo SL, Li K, He MW, Wu HT, Qiu JX, Zhang L, Wang YL, Lou X, Ma L. {{Alterations of White Matter Connectivity in Preschool Children with Autism Spectrum Disorder}}. {Radiology}. 2018: 170059.
Purpose To investigate the topologic architecture of white matter connectivity networks in preschool-aged children with a diagnosis of autism spectrum disorder (ASD) versus typical development (TD). Materials and Methods Forty-two participants were enrolled, including 21 preschool children with ASD (14 male children and seven female children; mean age, 4.56 years +/- 0.97 [standard deviation]) and 21 children with TD (11 males and 10 females; mean age, 5.13 years +/- 0.82). The diagnosis of ASD was determined according to the Diagnostic and Statistical Manual of Mental Disorders Global Assessment of Functioning scores (mean score, 8.00 +/- 0.50). All participants underwent diffusion-tensor imaging (DTI) and T2-weighted imaging on a 3-T magnetic resonance system. A graph theoretical analysis was applied to investigate the topologic organization of the brain network including global and local topologic parameters. Statistical analysis was then performed for the comparison between the groups. Results Compared with the TD group, children with ASD demonstrated shortened characteristic path length (t1 = 0.536, t2 = 0.534, t3 = 0.523, t4 = 0.510, and t5 = 0.501; P < .05) and increased global efficiency (t1 = 0.499, t2 = 0.497, t3 = 0.486, t4 = 0.473, and t5 = 0.465; P < .05) and clustering coefficient (t1 = 0.673, t2 = 0.750, t3 = 0.757, t4 = 0.738, and t5 = 0.741; P < .05). Significant increases in nodal efficiency were mainly found in left pallidum (0.037 vs 0.032, respectively; P < .01) and right caudate nucleus (0.037 vs 0.032, respectively; P < .01) of the basal ganglia network. Conclusion Significantly altered patterns of global and local brain network topography may underlie the abnormal brain development in preschool children with ASD compared with those who have TD. The identification of altered structural connectivity in basal ganglia and paralimbic-limbic networks may point toward potential imaging biomarkers for preschool-age patients with ASD. ((c)) RSNA, 2018. Lien vers le texte intégral (Open Access ou abonnement)
9. Lin MA, Cannon SC, Papazian DM. {{Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018.
A de novo mutation in the KCND2 gene, which encodes the Kv4.2 K(+) channel, was identified in twin boys with intractable, infant-onset epilepsy and autism. Kv4.2 channels undergo closed-state inactivation (CSI), a mechanism by which channels inactivate without opening during subthreshold depolarizations. CSI dynamically modulates neuronal excitability and action potential back propagation in response to excitatory synaptic input, controlling Ca(2+) influx into dendrites and regulating spike timing-dependent plasticity. Here, we show that the V404M mutation specifically affects the mechanism of CSI, enhancing the inactivation of channels that have not opened while dramatically impairing the inactivation of channels that have opened. The mutation gives rise to these opposing effects by increasing the stability of the inactivated state and in parallel, profoundly slowing the closure of open channels, which according to our data, is required for CSI. The larger volume of methionine compared with valine is a major factor underlying altered inactivation gating. Our results suggest that V404M increases the strength of the physical interaction between the pore gate and the voltage sensor regardless of whether the gate is open or closed. Furthermore, in contrast to previous proposals, our data strongly suggest that physical coupling between the voltage sensor and the pore gate is maintained in the inactivated state. The state-dependent effects of V404M on CSI are expected to disturb the regulation of neuronal excitability and the induction of spike timing-dependent plasticity. Our results strongly support a role for altered CSI gating in the etiology of epilepsy and autism in the affected twins.
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10. Livingston LA, Colvert E, Bolton P, Happe F. {{Good social skills despite poor theory of mind: exploring compensation in autism spectrum disorder}}. {J Child Psychol Psychiatry}. 2018.
BACKGROUND: It is proposed that some individuals with Autism Spectrum Disorder (ASD) can ‘compensate’ for their underlying difficulties (e.g. in theory of mind; ToM), thus demonstrating relatively few behavioural symptoms, despite continued core cognitive deficits. The mechanisms underpinning compensation are largely unexplored, as is its potential impact on mental health. This study aimed to estimate compensation patterns in ASD, by contrasting overt social behaviour with ToM task performance, in order to compare the characteristics of ‘Low’ and ‘High’ Compensators. METHODS: A total of 136 autistic adolescents, from the ongoing Social Relationships Study, completed a range of cognitive tasks, the Autistic Diagnostic Observation Schedule (ADOS) and a self-report anxiety questionnaire. Participants were assigned compensation group status; High Compensators demonstrated good ADOS scores despite poor ToM performance, while Low Compensators demonstrated similarly poor ToM, accompanied by poor ADOS scores. RESULTS: High Compensators demonstrated better IQ and executive function (EF), but greater self-reported anxiety, compared with Low Compensators. Such differences were not found when comparing individuals who had good versus poor ADOS scores, when ToM performance was good. Other core autistic characteristics (weak central coherence, nonsocial symptoms) did not differentiate the High and Low Compensators. CONCLUSIONS: IQ, EF and anxiety appear to be implicated in the processes by which certain autistic young people can compensate for their underlying ToM difficulties. This tendency to compensate does not appear to reflect the severity of ‘hit’ for ASD per se, suggesting that well-compensated individuals are not experiencing a milder form of ASD. The construct of compensation in ASD has implications for research and clinical practice.
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11. Moore A, Wozniak M, Yousef A, Barnes CC, Cha D, Courchesne E, Pierce K. {{The geometric preference subtype in ASD: identifying a consistent, early-emerging phenomenon through eye tracking}}. {Mol Autism}. 2018; 9: 19.
Background: The wide range of ability and disability in ASD creates a need for tools that parse the phenotypic heterogeneity into meaningful subtypes. Using eye tracking, our past studies revealed that when presented with social and geometric images, a subset of ASD toddlers preferred viewing geometric images, and these toddlers also had greater symptom severity than ASD toddlers with greater social attention. This study tests whether this « GeoPref test » effect would generalize across different social stimuli. Methods: Two hundred and twenty-seven toddlers (76 ASD) watched a 90-s video, the Complex Social GeoPref test, of dynamic geometric images paired with social images of children interacting and moving. Proportion of visual fixation time and number of saccades per second to both images were calculated. To allow for cross-paradigm comparisons, a subset of 126 toddlers also participated in the original GeoPref test. Measures of cognitive and social functioning (MSEL, ADOS, VABS) were collected and related to eye tracking data. To examine utility as a diagnostic indicator to detect ASD toddlers, validation statistics (e.g., sensitivity, specificity, ROC, AUC) were calculated for the Complex Social GeoPref test alone and when combined with the original GeoPref test. Results: ASD toddlers spent a significantly greater amount of time viewing geometric images than any other diagnostic group. Fixation patterns from ASD toddlers who participated in both tests revealed a significant correlation, supporting the idea that these tests identify a phenotypically meaningful ASD subgroup. Combined use of both original and Complex Social GeoPref tests identified a subgroup of about 1 in 3 ASD toddlers from the « GeoPref » subtype (sensitivity 35%, specificity 94%, AUC 0.75.) Replicating our previous studies, more time looking at geometric images was associated with significantly greater ADOS symptom severity. Conclusions: Regardless of the complexity of the social images used (low in the original GeoPref test vs high in the new Complex Social GeoPref test), eye tracking of toddlers can accurately identify a specific ASD « GeoPref » subtype with elevated symptom severity. The GeoPref tests are predictive of ASD at the individual subject level and thus potentially useful for various clinical applications (e.g., early identification, prognosis, or development of subtype-specific treatments).
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12. Yamaki K, Wing C, Mitchell D, Owen R, Heller T. {{Impact of Medicaid Managed Care on Illinois’s Acute Health Services Expenditures for Adults With Intellectual and Developmental Disabilities}}. {Intellectual and developmental disabilities}. 2018; 56(2): 133-46.
States have increasingly transitioned Medicaid enrollees with disabilities from fee-for-service (FFS) to Medicaid Managed Care (MMC), intending to reduce state Medicaid spending and to provide better access to health services. Yet, previous studies on the impact of MMC are limited and findings are inconsistent. We analyzed the impact of MMC on costs by tracking Illinois’s Medicaid acute health services expenditures for adults with intellectual and developmental disabilities (IDD) living in the community ( n = 1,216) before and after their transition to MMC. Results of the difference-in-differences (DID) regression analysis using an inverse propensity score weight (IPW) matched comparison group ( n = 1,134) design suggest that there were no significant state Medicaid cost savings in transitioning people with IDD from FFS to MMC.
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13. Zerbo O, Modaressi S, Goddard K, Lewis E, Fireman BH, Daley MF, Irving SA, Jackson LA, Donahue JG, Qian L, Getahun D, DeStefano F, McNeil MM, Klein NP. {{Vaccination Patterns in Children After Autism Spectrum Disorder Diagnosis and in Their Younger Siblings}}. {JAMA Pediatr}. 2018.
Importance: In recent years, rates of vaccination have been declining. Whether this phenomenon disproportionately affects children with autism spectrum disorder (ASD) or their younger siblings is unknown. Objectives: To investigate if children after receiving an ASD diagnosis obtain their remaining scheduled vaccines according to the Advisory Committee on Immunization Practices (ACIP) recommendations and to compare the vaccination patterns of younger siblings of children with ASD with the vaccination patterns of younger siblings of children without ASD. Design, Setting, and Participants: This investigation was a retrospective matched cohort study. The setting was 6 integrated health care delivery systems across the United States within the Vaccine Safety Datalink. Participants were children born between January 1, 1995, and September 30, 2010, and their younger siblings born between January 1, 1997, and September 30, 2014. The end of follow-up was September 30, 2015. Exposures: Recommended childhood vaccines between ages 1 month and 12 years. Main Outcome and Measure: The proportion of children who received all of their vaccine doses according to ACIP recommendations. Results: The study included 3729 children with ASD (676 [18.1%] female), 592907 children without ASD, and their respective younger siblings. Among children without ASD, 250193 (42.2%) were female. For vaccines recommended between ages 4 and 6 years, children with ASD were significantly less likely to be fully vaccinated compared with children without ASD (adjusted rate ratio, 0.87; 95% CI, 0.85-0.88). Within each age category, vaccination rates were significantly lower among younger siblings of children with ASD compared with younger siblings of children without ASD. The adjusted rate ratios varied from 0.86 for siblings younger than 1 year to 0.96 for those 11 to 12 years old. Parents who had a child with ASD were more likely to refuse at least 1 recommended vaccine for that child’s younger sibling and to limit the number of vaccines administered during the younger sibling’s first year of life. Conclusions and Relevance: Children with ASD and their younger siblings were undervaccinated compared with the general population. The results of this study suggest that children with ASD and their younger siblings are at increased risk of vaccine-preventable diseases.
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14. Zhang Z, Li S, Yu L, Liu J. {{Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder}}. {Disease markers}. 2018; 2018: 7862892.
Both genetic and environmental factors have been implicated in the etiology of autism spectrum disorder (ASD). This case-control study aimed to determine the association of single-nucleotide polymorphisms (SNPs) rs731276 (TaqI), rs1568820 (Cdx2), rs1544410 (BsmI), and rs2228570 (FokI) in the vitamin D receptor (VDR) gene with susceptibility of childhood ASD and severity of the disease. A total of 201 children with ASD and 200 healthy controls from the Han Chinese population were recruited. SNP genotyping was carried out by TaqMan probe-based real-time PCR using genomic DNA extracted from blood cells. Among four examined SNPs, only the CT genotype (odds ratio (OR) = 1.96, 95% confidence interval (CI) = 1.05-3.68, P = 0.0351) and the C allele (OR = 1.88, 95% CI = 1.02-3.46, P = 0.0416) of the rs731276 were significantly associated with increased risks of childhood ASD. None of the SNPs were associated with severity of childhood ASD. Our results reveal that certain polymorphisms in the VDR gene are a risk factor related to childhood ASD in the Han Chinese population.
