1. {{NewsCAP: Tracking people with dementia or autism who wander}}. {The American journal of nursing}. 2018; 118(12): 14.
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2. Ahlers K, Gabrielsen TP, Ellzey A, Brady A, Litchford A, Fox J, Nguyen QT, Carbone PS. {{A Pilot Project Using Pediatricians as Initial Diagnosticians in Multidisciplinary Autism Evaluations for Young Children}}. {Journal of developmental and behavioral pediatrics : JDBP}. 2018.
OBJECTIVES: Wait times for autism spectrum disorder (ASD) evaluations are long, thereby delaying access to ASD-specific services. We asked how our traditional care model (requiring all patients to see psychologists for ASD diagnostic decisions) compared to an alternative model that better utilizes the available clinicians, including initial evaluation by speech, audiology, and pediatrics (trained in Level 2 autism screening tools). Pediatricians could diagnose immediately if certain about diagnosis but could refer uncertain cases to psychology. Accuracy and time to diagnosis, charges, and parent satisfaction were our main outcome measures. METHODS: Data were gathered through record extraction (n = 244) and parent questionnaire (n = 57). We compared time to diagnosis, charges, and parent satisfaction between traditional and alternative models. Agreement between pediatrician and psychologist diagnoses was examined for a subset (n = 18). RESULTS: The alternative model’s time to diagnosis was 44% faster (85 vs 152 d) and 33% less costly overall. Diagnostic agreement was 93% for children with ASD diagnoses and 100% for children without ASD diagnoses. Pediatricians expressed higher diagnostic certainty about children with higher levels of ASD symptoms. Parents reported no differences in high satisfaction with experiences, family-centered care, and shared decision making. CONCLUSION: Efficient use of available clinicians with additional training in Level 2 autism screening resulted in improvements in time to diagnosis and reduced charges for families. Coordination of multidisciplinary teams makes this possible, with strategic sequencing of patients through workflow. Flexibility was key to not only allowing pediatricians to refer uncertain cases to psychology for diagnosis but also allowing for diagnosis by a pediatrician when symptomatic presentation clearly met diagnostic criteria.
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3. Ahmad SA, Al Thobiti TA, El Toum M, Al Harbi F. {{Florid Scurvy in an Autistic Child on a Ketogenic Diet}}. {Pediatric emergency care}. 2018.
Ketogenic diets used for treating various neurological disorders can have potentially serious adverse effects. Among these is scurvy, a rarely reported, yet potentially fatal adverse effect of the ketogenic diet caused by vitamin C deficiency. We report a case of a 5-year-old patient with autism, who presented with scurvy secondary to the dietary restrictions of a ketogenic diet. Our review of the literature showed a single previously reported case of vitamin C deficiency in a patient on ketogenic diet. We have also reviewed the clinical indications and adverse effects of ketogenic diets with special reference to scurvy. This case emphasizes the importance of vitamin supplements in patients consuming a special diet.
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4. Barber C. {{Working with a patient with an autism spectrum condition}}. {British journal of nursing (Mark Allen Publishing)}. 2018; 27(21): 1232.
Chris Barber, Visiting Lecturer (Learning Disabilities), Birmingham City University ( chris.barber@bcu.ac.uk ), offers tips for nurses working with adults with autism spectrum conditions.
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5. Brignell A, May T, Morgan AT, Williams K. {{Predictors and growth in receptive vocabulary from 4 to 8 years in children with and without autism spectrum disorder: A population-based study}}. {Autism : the international journal of research and practice}. 2018: 1362361318801617.
Few studies have examined growth and predictors of receptive vocabulary in children with autism spectrum disorder. Here we aimed to compare receptive vocabulary from 4 to 8 years and identify predictors of receptive vocabulary, at 8 years, in children with and without autism spectrum disorder. Participants were drawn from a nationally representative population-based study with two cohorts recruited at birth (N = 4983) and kindergarten (N = 5107). Receptive vocabulary growth was compared for children with and without autism spectrum disorder at 4 (n = 188, n = 7136), 6 (n = 215, n = 7297) and 8 (n = 216, n = 7408) years. Predictors of receptive vocabulary were analysed. Estimated mean receptive vocabulary scores for children without autism spectrum disorder were 2.3 units higher than the autism spectrum disorder group across three time points. This difference was significant (p = 0.004; 95% confidence interval 0.769-3.927). Children with and without autism spectrum disorder progressed at a similar pace. There was no significant difference between the proportions of children with and without autism spectrum disorder who had stable, improving and declining trajectories. Age was the only significant predictor of greater receptive vocabulary growth in children with autism spectrum disorder. Baseline receptive language and nonverbal IQ were significant predictors of receptive vocabulary ability at 8 years. These findings inform prognostic advice given to families on language outcomes.
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6. Fernandes JM, Cajao R, Lopes R, Jeronimo R, Barahona-Correa JB. {{Social Cognition in Schizophrenia and Autism Spectrum Disorders: A Systematic Review and Meta-Analysis of Direct Comparisons}}. {Frontiers in psychiatry}. 2018; 9: 504.
Background: Deficits in social cognition are well-recognized in both schizophrenia and autism spectrum disorders (ASD). However, it is less clear how social cognition deficits differ between both disorders and what distinct mechanisms may underlie such differences. We aimed at reviewing available evidence from studies directly comparing social cognitive performance between individuals with schizophrenia and ASD. Methods: We performed a systematic review of literature up to May 22, 2018 on Pubmed, Web of Science, and Scopus. Search terms included combinations of the keywords « social cognition, » « theory of mind, » « autism, » « Asperger, » « psychosis, » and « schizophrenia. » Two researchers independently selected and extracted data according to PRISMA guidelines. Random-effects meta-analyses were conducted for performance on social cognitive tasks evaluating: (1) emotion perception; (2) theory of mind (ToM); (3) emotional intelligence (managing emotions score of the Mayer-Salovey-Caruso Emotional Intelligence Test); and (4) social skills. Results: We identified 19 eligible studies for meta-analysis including a total of 1,040 patients (558 with schizophrenia and 482 with ASD). Eight studies provided data on facial emotion perception that evidenced a better performance by participants with schizophrenia compared to those with ASD (Hedges’ g = 0.43; p = 0.031). No significant differences were found between groups in the Reading the Mind in the Eyes Test (8 studies; Hedges’ g = 0.22; p = 0.351), other ToM tasks (9 studies; Hedges’ g = -0.03; p = 0.903), emotional intelligence (3 studies; Hedges’ g = -0.17; p = 0.490), and social skills (3 studies; Hedges’ g = 0.86; p = 0.056). Participants’ age was a significant moderator of effect size in emotion perception and RMET analyzes, with larger differences favoring patients with schizophrenia being observed in studies with younger participants. Conclusions: The instruments that are currently available to evaluate social cognition poorly differentiate between individuals with schizophrenia and ASD. Combining behavioral tasks with neurophysiologic assessments may better characterize the differences in social cognition between both disorders.
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7. Iglesias Vazquez L, Canals J, Arija V. {{Review and meta-analysis found that prenatal folic acid was associated with a 58% reduction in autism but had no effect on mental and motor development}}. {Acta paediatrica (Oslo, Norway : 1992)}. 2018.
AIM: The impact of prenatal folic acid on children’s neurodevelopment and the risk of autism spectrum disorder (ASD) remain unclear and this review and meta-analysis aimed to quantify any associations. METHODS: We systematically searched PubMed, Scopus and The Cochrane Library until June 2018 with no language restrictions. Standardised mean differences and odds ratio with 95% confidence intervals are used to describe any associations between folic acid and mental development, motor development and ASD. RESULTS: The search strategy identified 647 papers and 16 were finally included in the meta-analysis after the application of the exclusion criteria. These provided a total cohort size of 756,365 children aged 11 months to 15 years from 10 countries. The main finding was that prenatal use of folic acid was associated with a 58% reduction in the risk of ASD in children. We were surprised that better scores for mental development were associated with low prenatal exposure to folic acid. CONCLUSION: Although the results should be interpreted with caution, they showed that routine prenatal supplements of folic acid were associated with significantly lower levels of ASD. Further studies are needed to reach a firm conclusion, given the multifactorial aetiology of neurodevelopment. This article is protected by copyright. All rights reserved.
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8. Roux S, Bailly Y, Bossu JL. {{Regional and sex-dependent alterations in Purkinje cell density in the valproate mouse model of autism}}. {Neuroreport}. 2018.
Neuropathological and neuroimaging studies indicate a decrease in Purkinje cell (PC) density in the cerebellum of autistic patients and rodent models of autism. Autism is far more prevalent in males than females, and sex-specific properties of PCs have been reported recently. We investigated the differential sensitivity of PCs in the valproate acid (VPA) mouse model of autism by estimating the linear density of PCs immununolabelled with calbindin in the cerebellum of males and females. Whereas prenatal VPA treatment surprisingly increased PC linear density in both sexes 13 days after birth (P13), it significantly reduced the linear density of PCs in the cerebellum of 40-day-old (P40) males, but not females. In males, PC loss was more pronounced in the posterior part of the cerebellum and was significant in the VIth, VIIth, IXth and paramedian lobules. In females, PC loss was restricted to the paramedian lobule. These results suggest that this sex-specific sensitivity of PCs to VPA may contribute towards the motor disturbances and behavioural abnormalities observed in autism.
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9. Schalbroeck R, Termorshuizen F, Visser E, van Amelsvoort T, Selten JP. {{Risk of non-affective psychotic disorder or bipolar disorder in autism spectrum disorder: a longitudinal register-based study in the Netherlands}}. {Psychological medicine}. 2018: 1-8.
BACKGROUND: Individuals with autism spectrum disorder (ASD) appear to be at increased risk of non-affective psychotic disorder (NAPD) and bipolar disorder (BD). However, most previous studies examined the co-occurrence of ASD and NAPD or BD, ignoring possible diagnostic bias and selection bias. We used longitudinal data from Dutch psychiatric case registers to assess the risk of NAPD or BD among individuals with ASD, and compared the results to those obtained for the Dutch population in earlier studies. METHODS: Individuals with ASD (n = 17 234) were followed up between 16 and 35 years of age. Kaplan-Meier estimates were used to calculate the risk of NAPD or BD. We conducted separate analyses to reduce possible bias, including an analysis among individuals diagnosed with ASD before age 16 years (n = 8337). RESULTS: Of the individuals with ASD, 23.50% (95% confidence interval 21.87-25.22) were diagnosed with NAPD and 3.79% (3.06-4.69) with BD before age 35 years. The corresponding figures for the general population were 0.91% (0.63-1.28) and 0.13% (0.08-0.20). Risk estimates were substantially lower, but still higher than general population estimates, when we restricted our analyses to individuals diagnosed with ASD before age 16, with 1.87% (1.33-2.61) being diagnosed with NAPD and 0.57% (0.21-1.53) with BD before age 25 years. The corresponding figures for the general population were 0.63% (0.44-0.86) and 0.08% (0.05-0.12). CONCLUSIONS: Individuals with ASD are at increased risk of NAPD or BD. This is likely not the result of diagnostic or selection bias.
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10. Soussia M, Rekik I. {{Unsupervised Manifold Learning Using High-Order Morphological Brain Networks Derived From T1-w MRI for Autism Diagnosis}}. {Frontiers in neuroinformatics}. 2018; 12: 70.
Brain disorders, such as Autism Spectrum Disorder (ASD), alter brain functional (from fMRI) and structural (from diffusion MRI) connectivities at multiple levels and in varying degrees. While unraveling such alterations have been the focus of a large number of studies, morphological brain connectivity has been out of the research scope. In particular, shape-to-shape relationships across brain regions of interest (ROIs) were rarely investigated. As such, the use of networks based on morphological brain data in neurological disorder diagnosis, while leveraging the advent of machine learning, could complement our knowledge on brain wiring alterations in unprecedented ways. In this paper, we use conventional T1-weighted MRI to define morphological brain networks (MBNs), each quantifying shape relationship between different cortical regions for a specific cortical attribute at both low-order and high-order levels. While typical brain connectomes investigate the relationship between two ROIs, we propose high-order MBN which better captures brain complex interactions by modeling the morphological relationship between pairs of ROIs. For ASD identification, we present a connectomic manifold learning framework, which learns multiple kernels to estimate a similarity measure between ASD and normal controls (NC) connectional features, to perform dimensionality reduction for clustering ASD and NC subjects. We benchmark our ASD identification method against both supervised and unsupervised state-of-the-art methods, while depicting the most discriminative high- and low-order relationships between morphological regions in the left and right hemispheres.
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11. Tejada MI, Elcoroaristizabal X, Ibarluzea N, Botella MP, de la Hoz AB, Ocio I. {{A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism}}. {Clinical genetics}. 2018.
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12. Wang R, Hausknecht K, Shen RY, Haj-Dahmane S. {{Potentiation of Glutamatergic Synaptic Transmission Onto Dorsal Raphe Serotonergic Neurons in the Valproic Acid Model of Autism}}. {Frontiers in pharmacology}. 2018; 9: 1185.
Autism spectrum disorder (ASD) is characterized by social and communicative impairments and increased repetitive behaviors. These symptoms are often comorbid with increased anxiety. Prenatal exposure to valproic acid (VPA), an anti-seizure and mood stabilizer medication, is a major environmental risk factor of ASD. Given the important role of the serotonergic (5-HT) system in anxiety, we examined the impact of prenatal VPA exposure on the function of dorsal raphe nucleus (DRn) 5-HT neurons. We found that male rats prenatally exposed to VPA exhibited increased anxiety-like behaviors revealed by a decreased time spent on the open arms of the elevated plus maze. Prenatal VPA exposed rats also exhibited a stereotypic behavior as indicated by excessive self-grooming in a novel environment. These behavioral phenotypes were associated with increased electrical activity of putative DRn 5-HT neurons recorded in vitro. Examination of underlying mechanisms revealed that prenatal VPA exposure increased excitation/inhibition ratio in synapses onto these neurons. The effect was mainly mediated by enhanced glutamate but not GABA release. We found reduced paired-pulse ratio (PPR) of evoked excitatory postsynaptic currents (EPSCs) and increased frequency but not amplitude of miniature EPSCs in VPA exposed rats. On the other hand, presynaptic GABA release did not change in VPA exposed rats, as the PPR of evoked inhibitory postsynaptic currents was unaltered. Furthermore, the spike-timing-dependent long-term potentiation at the glutamatergic synapses was occluded, indicating glutamatergic synaptic transmission is maximized. Lastly, VPA exposure did not alter the intrinsic membrane properties of DRn 5-HT neurons. Taken together, these results indicate that prenatal VPA exposure profoundly enhances glutamatergic synaptic transmission in the DRn and increases spontaneous firing in DRn 5-HT neurons, which could lead to increased serotonergic tone and underlie the increased anxiety and stereotypy after prenatal VPA exposure.
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13. Welsh F, Najdowski AC, Strauss D, Gallegos L, Fullen JA. {{Teaching a perspective-taking component skill to children with autism in the natural environment}}. {Journal of applied behavior analysis}. 2018.
We evaluated procedures for teaching three children diagnosed with autism spectrum disorder the perspective-taking component skill of tacting what others are sensing across all five senses: see, taste, feel, hear, and smell. Using a multiple baseline across participants design, we evaluated a training package consisting of multiple exemplar training, reinforcement, and error correction. The treatment package was implemented in the natural environment and was effective for teaching participants to tact what others sensed. Generalization across untrained stimuli and people was observed from baseline to posttraining for all participants. We discuss how this component skill may be related to teaching further skills related to perspective taking such as tacting what others know, predicting future behavior based upon one’s beliefs, and creating false beliefs in others for the purpose of adaptive deceptive behaviors such as keeping secrets, surprises, and bluffing during games.
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14. Wheeler AC, Miller S, Wylie A, Edwards A. {{Mindfulness and Acceptance as Potential Protective Factors for Mothers of Children With Fragile X Syndrome}}. {Frontiers in public health}. 2018; 6: 316.
Women with an FMR1 premutation may be at increased genetic risk for stress vulnerability. This increased vulnerability, when combined with stressful parenting that can result from raising children with fragile X syndrome (FXS), may result in negative physical and emotional outcomes. Mindfulness and acceptance have been found to be protective factors for parents of children with similar behavioral challenges, but these traits have not previously been explored among mothers with a child with FXS. This study explored the associations of child disability severity with maternal stress, anxiety, depression, and physical health symptoms in 155 biological mothers of children with FXS. Women completed an online survey using standardized measures of stress, mindfulness, and acceptance. General mindfulness, mindfulness in the parenting role, and general acceptance were explored as potential protective factors between the child disability severity and maternal outcomes. Trait mindfulness and acceptance were significant predictors of lower stress, anxiety, depression, and daily health symptoms, while mindful parenting was associated with lower stress, anxiety, and depression. Acceptance was found to attenuate the effects of child severity on maternal stress and depression. These findings suggest that interventions focused on improving mindfulness and acceptance may promote health and well-being for mothers of children with FXS and have important health implications for all individuals with an FMR1 premutation.
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15. Xixis KI, Ham A, Farmer A, Allman A, Augustyn M. {{Focal Electrographic Seizures in a Patient With Autism Spectrum Disorder and Speech Delay}}. {Journal of developmental and behavioral pediatrics : JDBP}. 2018.
CASE: A 6-year-old boy with a diagnosis of autism spectrum disorder (ASD) presented to primary care for a new-patient, transfer-of-care evaluation. At the initial encounter, the patient used a maximum of 60 words and was receiving speech and language therapy (SLT) through school. Family history was positive for seizures in the father and paternal grandfather as well as ASD in an older brother. Referrals to genetics, private SLT, and an autism specialist were offered, although the latter was declined by family. The subsequent genetics evaluation resulted in discovery of a small gain on chromosome 1q42.2 and associated partial duplication of the DISC1 gene. The assay could not determine the exact clinical significance of the abnormality, but similarly sized and located abnormalities involving the DISC1 gene are reported in some patients with ASD and developmental delay. During a follow-up pediatrics appointment, the father expressed his wish for further evaluation of causes of autism spectrum disorder (ASD) and requested an electroencephalography (EEG) evaluation. The family concomitantly reported slow improvement in speech with therapy, the use of up to 200 words, and the ability to count to 10. The primary care physician reiterated that EEG and imaging studies are not indicated for an isolated ASD diagnosis with no supporting history or physical examination indications. The clinician discussed ASD-recommended therapies with the family. Neurology referral was made per parental request. The patient subsequently presented to neurology at the age of 7 years. The parents reiterated during the initial neurologic developmental history that the patient had shown some improvement with speech and language therapy in the past 18 months, knew as many as 200 to 300 words, and could put some words together into simple sentences. Gross and fine motor development were felt to be within the normal range for age. The parents also reported some scripting, and mild echolalia was noted on examination. Notably, there was no history of language regression. Apart from language delay, the neurologic examination was otherwise normal at initial evaluation. Given this clinical picture, ASD treatment options were again discussed. Despite education, parents continued to request for EEG evaluation as a workup for the etiology of the patient’s ASD. Electroencephalography was ultimately ordered owing to the strong and repeated paternal request despite denial of any seizure-like episodes in the patient. EEG unexpectedly showed extremely frequent, almost constant focal electrographic seizures arising from the T3/T5 electrodes in the speech area of the left temporal lobe, prompting the initiation of oxcarbazepine maintenance therapy. Because of the noted abnormalities on EEG, magnetic resonance imaging (MRI) was obtained. Mild abnormalities were noted on MRI study including possible minimal inferior cerebellar vermian hypoplasia, mildly prominent bodies of the lateral ventricles, and nonspecific, nonenhancing punctate T2 hyperintensities in the subcortical white matter. These findings were not felt to be clinically relevant to the patient’s presentation or seizure evaluation. No repeat imaging was ordered. Hindsight is always 20/20. As a clinician evaluating the patient initially, would you have pursued further workup sooner?
