1. Baker S, Shaw W. {{Case Study: Rapid Complete Recovery From An Autism Spectrum Disorder After Treatment of Aspergillus With The Antifungal Drugs Itraconazole And Sporanox}}. {Integrative medicine (Encinitas, Calif)}. 2020; 19(4): 20-7.
CONTEXT: A child with symptoms placing him within the autism spectrum and with urine biochemical markers consistent with fungal (Aspergillus) colonization of the gastrointestinal tract was first treated with the antifungal probiotic Saccharomyces boulardii. A dramatic Herxheimer reaction provided strong clinical indications that mold colonization might be a factor in causing autism in this child. OBJECTIVE: The child’s physician (Baker) wished to try a more potent antifungal therapy, itraconazole, in an attempt to reverse the child’s autism since itraconazole is an especially effective agent against Aspergillus species. SETTING: The child was treated as an outpatient by the physician who had first diagnosed the child with an autism spectrum disorder. PARTICIPANT: A child with an autism spectrum disorder. INTERVENTION: The major intervention was increasing doses of the antifungal drug itraconazole. However, the Sporanox(®) brand of itraconazole gave the best results. The child was monitored twice weekly with liver function tests which remained normal throughout the therapy. RESULTS: The child had a complete recovery from all the symptoms of autism and in addition developed excellent academic, athletic, and musical skills. The recovery coincided with a marked reduction of urine markers of Aspergillus colonization. CONCLUSIONS: Escalation of the dose of itraconazole resulted in a complete loss of all symptoms of autism over the course of three months. This rapid complete reversal of autism is consistent with several articles proposing mold in general and Aspergillus specifically as a potential major cause of autism.
2. Blancas M, Maffei G, Sánchez-Fibla M, Vouloutsi V, Verschure P. {{Collaboration Variability in Autism Spectrum Disorder}}. {Front Hum Neurosci}. 2020; 14: 559793.
This paper addresses how impairments in prediction in young adults with autism spectrum disorder (ASD) relate to their behavior during collaboration. To assess it, we developed a task where participants play in collaboration with a synthetic agent to maximize their score. The agent’s behavior changes during the different phases of the game, requiring participants to model the agent’s sensorimotor contingencies to play collaboratively. Our results (n = 30, 15 per group) show differences between autistic and neurotypical individuals in their behavioral adaptation to the other partner. Contrarily, there are no differences in the self-reports of that collaboration.
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3. Bottema-Beutel K, Kim SY, Crowley S, Yoder PJ. {{Developmental associations between joint engagement and autistic children’s vocabulary: A cross-lagged panel analysis}}. {Autism}. 2020: 1362361320968641.
In this study, we used a cross-lagged panel analysis to examine correlations over time between two types of engagement between children and their parents and children’s later expressive and receptive vocabularies. This kind of design can help researchers understand which early developmental achievements « drive » later developmental achievements. It is important for intervention researchers to know which developmental achievements happen first, so that they can set intervention goals appropriately. The two joint engagement variables we examined were (a) higher order supported joint engagement, which occurs when caregivers influence their child’s play with toys and the child reciprocally responds to the caregiver, but does not manage the interaction by shifting gaze between the toys and the caregiver, and (b) higher order supported joint engagement that co-occurs with caregiver’s follow-in talk (higher order supported joint engagement + follow-in). Follow-in talk occurs when the caregiver talks about objects and events that the child is focused on. Ninety-one autistic children (n = 91) with language delay (mean chronological age = 39 months) participated, along with their primary caregivers. Each of the four variables was measured twice, 8 months apart. Our statistical procedures showed that early higher order supported joint engagement and early higher order supported joint engagement + follow-in were significantly associated with later expressive and receptive vocabulary. In contrast, associations between early vocabulary variables and later joint engagement variables were not significant. Our results suggest that higher order supported joint engagement and higher order supported joint engagement + follow-in may be useful initial intervention targets, for developmental interventions aimed at promoting language development in autistic children who are initially language delayed.
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4. Casartelli L, Federici A, Fumagalli L, Cesareo A, Nicoli M, Ronconi L, Vitale A, Molteni M, Rizzolatti G, Sinigaglia C. {{Neurotypical individuals fail to understand action vitality form in children with autism spectrum disorder}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2020; 117(44): 27712-8.
Any defects of sociality in individuals diagnosed with autism spectrum disorder (ASD) are standardly explained in terms of those individuals’ putative impairments in a variety of cognitive functions. Recently, however, the need for a bidirectional approach to social interaction has been emphasized. Such an approach highlights differences in basic ways of acting between ASD and neurotypical individuals which would prevent them from understanding each other. Here we pursue this approach by focusing on basic action features reflecting the agent’s mood and affective states. These are action features Stern named « vitality forms, » and which are widely assumed to substantiate core social interactions [D. N. Stern, The Interpersonal World of the Infant (1985); D. N. Stern, Forms of Vitality Exploring Dynamic Experience in Psychology, Arts, Psychotherapy, and Development (2010)]. Previously we demonstrated that, although ASD and typically developing (TD) children alike differentiate vitality forms when performing actions, ASD children express them in a way that is motorically dissimilar to TD children. To assess whether this motor dissimilarity may have consequences for vitality form recognition, we asked neurotypical participants to identify the vitality form of different types of action performed by ASD or TD children. We found that participants exhibited remarkable inaccuracy in identifying ASD children’s vitality forms. Interestingly, their performance did not benefit from information feedback. This indicates that how people act matters for understanding others and for being understood by them. Because vitality forms pervade every aspect of daily life, our findings promise to open the way to a deeper comprehension of the bidirectional difficulties for both ASD and neurotypical individuals in interacting with one another.
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5. Guidotti L, Musetti A, Barbieri GL, Ballocchi I, Corsano P. {{Conflicting and harmonious sibling relationships of children and adolescent siblings of children with Autism Spectrum Disorder}}. {Child Care Health Dev}. 2020.
BACKGROUND: The presence of a child with Autism Spectrum Disorder (ASD) could have a strong psychological and emotional impact on typical development (TD) siblings, with different ways of adjustment and perception of fraternal relationships. In this study we aimed to investigate the experience of the TD siblings of children with ASD combining both quantitative and qualitative methodologies. METHOD: An explanatory sequential design was employed. Forty-four TD siblings of children with ASD, aged from 6 to 17 years old, participated in the study. Each participant completed the Sibling Relationship Inventory that investigated warmth, rivalry and conflict in sibling relationships. Moreover, in order to thoroughly evaluate the participants’ perception of their sibling relationship, they were asked to draw themselves with their sibling with ASD in a condition of harmony and conflict. The drawings were collected and coded using the well-validated Pictorial Assessment of Interpersonal Relationships. Quantitative and qualitative analyses were conducted. RESULTS: In general, TD siblings showed affection for their siblings with ASD. However, males showed more conflict than females. Quantitative analyses of the drawings showed high levels of Similarity between the siblings, despite the disability. In drawings in conditions of harmony, greater Cohesion emerged and in situations of conflict greater Distancing. Content analysis of the drawings showed that the conflict is represented mainly at home and the siblings often show opposite emotions, with TD siblings experiencing negative emotions. Moreover, adolescent TD siblings displayed more annoyance, shame and embarrassment than child TD siblings. CONCLUSIONS: It is important to combine quantitative and qualitative tools to understand the experience of TD siblings in detail. In particular, drawing is a useful tool for providing quantitative and qualitative information, supplying rich and detailed information that can be well integrated with the results coming from quantitative tools.
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6. Kubota M, Fujino J, Tei S, Takahata K, Matsuoka K, Tagai K, Sano Y, Yamamoto Y, Shimada H, Takado Y, Seki C, Itahashi T, Aoki YY, Ohta H, Hashimoto RI, Zhang MR, Suhara T, Nakamura M, Takahashi H, Kato N, Higuchi M. {{Binding of Dopamine D1 Receptor and Noradrenaline Transporter in Individuals with Autism Spectrum Disorder: A PET Study}}. {Cereb Cortex}. 2020; 30(12): 6458-68.
Although previous studies have suggested the involvement of dopamine (DA) and noradrenaline (NA) neurotransmissions in the autism spectrum disorder (ASD) pathophysiology, few studies have examined these neurotransmissions in individuals with ASD in vivo. Here, we investigated DA D1 receptor (D1R) and noradrenaline transporter (NAT) binding in adults with ASD (n = 18) and neurotypical controls (n = 20) by utilizing two different PET radioligands, [11C]SCH23390 and (S,S)-[18F]FMeNER-D2, respectively. We found no significant group differences in DA D1R (striatum, anterior cingulate cortex, and temporal cortex) or NAT (thalamus and pons) binding. However, in the ASD group, there were significant negative correlations between DA D1R binding (striatum, anterior cingulate cortex and temporal cortex) and the « attention to detail » subscale score of the Autism Spectrum Quotient. Further, there was a significant positive correlation between DA D1R binding (temporal cortex) and emotion perception ability assessed by the neurocognitive battery. Associations of NAT binding with empathic abilities and executive function were found in controls, but were absent in the ASD group. Although a lack of significant group differences in binding might be partly due to the heterogeneity of ASD, our results indicate that central DA and NA function might play certain roles in the clinical characteristics of ASD.
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7. Lehnert-LeHouillier H, Terrazas S, Sandoval S. {{Prosodic Entrainment in Conversations of Verbal Children and Teens on the Autism Spectrum}}. {Front Psychol}. 2020; 11: 582221.
Unusual speech prosody has long been recognized as a characteristic feature of the speech of individuals diagnosed with Autism Spectrum Disorders (ASD). However, research to determine the exact nature of this difference in speech prosody is still ongoing. Many individuals with verbal autism perform well on tasks testing speech prosody. Nonetheless, their expressive prosody is judged to be unusual by others. We propose that one aspect of this perceived difference in speech prosody in individuals with ASD may be due to a deficit in the ability to entrain-or become more similar-to their conversation partners in prosodic features over the course of a conversation. In order to investigate this hypothesis, 24 children and teens between the ages of 9 and 15 years participated in our study. Twelve of the participants had previously been diagnosed with ASD and the other 12 participants were matched to the ASD participants in age, gender, and non-verbal IQ scores. All participants completed a goal-directed conversation task, which was subsequently analyzed acoustically. Our results suggest (1) that youth diagnosed with ASD entrain less to their conversation partners compared to their neurotypical peers-in fact, children and teens diagnosed with ASD tend to dis-entrain from their conversation partners while their neurotypical peers tend to converge to their conversation partners’ prosodic features. (2) Although age interacts differently with prosodic entrainment in youth with and without ASD, this difference is attributable to the entrainment behavior of the conversation partners rather than to those with ASD. (3) Better language skill is negatively correlated with prosodic entrainment for both youth with and without ASD. The observed differences in prosodic entrainment in children and teens with ASD may not only contribute to the perceived unusual prosody in youth with ASD but are also likely to be indicative of their difficulties in social communication, which constitutes a core challenge for individuals with ASD.
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8. Lin Y, Afshar S, Rajadhyaksha AM, Potash JB, Han S. {{A Machine Learning Approach to Predicting Autism Risk Genes: Validation of Known Genes and Discovery of New Candidates}}. {Front Genet}. 2020; 11: 500064.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic basis. The role of de novo mutations in ASD has been well established, but the set of genes implicated to date is still far from complete. The current study employs a machine learning-based approach to predict ASD risk genes using features from spatiotemporal gene expression patterns in human brain, gene-level constraint metrics, and other gene variation features. The genes identified through our prediction model were enriched for independent sets of ASD risk genes, and tended to be down-expressed in ASD brains, especially in frontal and parietal cortex. The highest-ranked genes not only included those with strong prior evidence for involvement in ASD (for example, NBEA, HERC1, and TCF20), but also indicated potentially novel candidates, such as, MYCBP2 and CAND1, which are involved in protein ubiquitination. We also showed that our method outperformed state-of-the-art scoring systems for ranking curated ASD candidate genes. Gene ontology enrichment analysis of our predicted risk genes revealed biological processes clearly relevant to ASD, including neuronal signaling, neurogenesis, and chromatin remodeling, but also highlighted other potential mechanisms that might underlie ASD, such as regulation of RNA alternative splicing and ubiquitination pathway related to protein degradation. Our study demonstrates that human brain spatiotemporal gene expression patterns and gene-level constraint metrics can help predict ASD risk genes. Our gene ranking system provides a useful resource for prioritizing ASD candidate genes.
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9. Mastrangelo M, Manti F, Giannini MT, Guerrini R, Leuzzi V. {{KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood}}. {Neurology Genetics}. 2020; 6(5): e510.
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10. McDonnell CG, DeLucia EA, Hayden EP, Penner M, Curcin K, Anagnostou E, Nicolson R, Kelley E, Georgiades S, Liu X, Stevenson RA. {{Sex Differences in Age of Diagnosis and First Concern among Children with Autism Spectrum Disorder}}. {J Clin Child Adolesc Psychol}. 2020: 1-11.
OBJECTIVE: Early identification of autism spectrum disorder (ASD) is an essential healthcare priority. Girls may be at risk for late diagnosis, although research is equivocal regarding how sex and other factors relate to ASD identification. The goals of the current investigation were to (1) identify how child sex, cognitive abilities, and demographic factors relate to age of first concern (AOC) and age of diagnosis (AOD), (2) evaluate trends in AOC/AOD over time, and (3) consider whether main effects of sex on AOC/AOD are moderated by cognitive abilities or time. METHOD: Children (N = 365; 20% female; 85.6% identified as White) with ASD participated through the Province of Ontario Neurodevelopmental Disorders (POND) Network. Study records included AOD, date/timing of diagnosis (between 1996 and 2017), age of first parent concern, demographics, and standardized cognitive testing results (24.7% of children had IQ scores below standard scores of 70). RESULTS: Average AOC occurred before 2 years of age whereas average AOD occurred after 5 years of age. Girls did not differ on AOC but had a later AOD than boys. Higher verbal IQ was associated with later AOD more strongly in girls than boys. Regarding time-related changes, average AOC and AOD increased across the study period, more strongly for girls. CONCLUSIONS: Results support that sex is a key factor underlying delays in ASD identification and highlight the urgent need to improve diagnostic practices among girls. Limitations and implications for improving the diagnostic process are discussed. Abbreviations: ASD=autism spectrum disorder; IQ=intelligence quotient; AOC=parental report of age of first concern; AOD=age of diagnosis.
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11. Nagabhushan Kalburgi S, Whitten AP, Key AP, Bodfish JW. {{Children With Autism Produce a Unique Pattern of EEG Microstates During an Eyes Closed Resting-State Condition}}. {Front Hum Neurosci}. 2020; 14: 288.
Although fMRI studies have produced considerable evidence for differences in the spatial connectivity of resting-state brain networks in persons with autism spectrum disorder (ASD) relative to typically developing (TD) peers, little is known about the temporal dynamics of these brain networks in ASD. The aim of this study was to examine the EEG microstate architecture in children with ASD as compared to TD at rest in two separate conditions – eyes-closed (EC) and eyes-open (EO). EEG microstate analysis was performed on resting-state data of 13 ASD and 13 TD children matched on age, gender, and IQ. We found that children with ASD and TD peers produced topographically similar canonical microstates at rest. Group differences in the duration and frequency of these microstates were found primarily in the EC resting-state condition. In line with previous fMRI findings that have reported differences in spatial connectivity within the salience network (previously correlated with the activity of microstate C) in ASD, we found that the duration of activation of microstate C was increased, and the frequency of microstate C was decreased in ASD as compared to TD in EC resting-state. Functionally, these results may be reflective of alterations in interoceptive processes in ASD. These results suggest a unique pattern of EEG microstate architecture in ASD relative to TD during resting-states and also that EEG microstate parameters in ASD are susceptible to differences in resting-state conditions.
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12. Niego A, Benítez-Burraco A. {{Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood}}. {Autism}. 2020: 1362361320965074.
Autism spectrum disorders and Williams syndrome are complex cognitive conditions exhibiting quite opposite features in the social domain: whereas people with autism spectrum disorders are mostly hyposocial, subjects with Williams syndrome are usually reported as hypersocial. At the same time, autism spectrum disorders and Williams syndrome share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of people with these conditions. We found a significant overlap between genes dysregulated in the blood of patients compared to neurotypical controls, with most of them being upregulated or, in some cases, downregulated. Still, genes with similar expression trends can exhibit quantitative differences between conditions, with most of them being more dysregulated in Williams syndrome than in autism spectrum disorders. Differentially expressed genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis. Overall, these genes emerge as promising candidates for the similarities and differences between the autism spectrum disorder and the Williams syndrome socio-cognitive profiles.
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13. Resciniti NV, Hong Y, McDermott S. {{Factors contributing to antihypertensive medication adherence among adults with intellectual and developmental disability}}. {Journal of intellectual disabilities : JOID}. 2020: 1744629520961958.
Adults with intellectual or developmental disabilities often have hypertension and mental illness, and are prescribed medications for treatment. This study examined psychotropic medication adherence as a mediator between the association of residence type and antihypertensive medication adherence for adults with intellectual or developmental disabilities. We used Medicaid data of adults with intellectual or developmental disabilities who had hypertension and prescribed antihypertensive medication (N = 1,201) to measure the direct effect, indirect effect, and total effect of residence type (home vs. supervised setting) and antihypertensive medication adherence, with a mediator of psychotropic medication adherence. The indirect effect of psychotropic medication adherence on antihypertensive medication adherence was 1.26 (OR = 1.26, CI: 1.08-1.52), holding residency constant. The direct effect of residential type on antihypertensive medication adherence was 3.75 (OR = 3.75, CI: 1.61-8.75). This association may be due to some features of having a mental illness or maybe the result of being prescribed more than one medication.
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14. Roche L, Adams D, Clark M. {{Research priorities of the autism community: A systematic review of key stakeholder perspectives}}. {Autism}. 2020: 1362361320967790.
It has become very important in autism research to ask the autistic community about what kinds of research they think should be done in order to improve the lives of people with autism. Many studies have reported on research goals from people within the autism community, such as parents of people on the autism spectrum, and practitioners and clinicians who support people on the autism spectrum. So far, the research goals from all of these studies have not been considered together, which is important so that all autism research can be working towards the same goals. We reviewed seven studies that looked at the priorities for autism research from key people within the autism community. Each of the reviewed studies are described according to (a) the types of people involved in the study, (b) the way the research goals from each group of people were identified, (c) the country where they were from and (d) the most common research goals from across all of the studies. Within these seven studies, research that will lead to real-world changes in the daily lives of the autism community and a greater focus on skill training for people with autism across their lives were found to be very important. From this review, we found that it is also very important to include a range of different people from the autism community when deciding what autism research goals should be focused on so that future research can be more helpful for the autism community.
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15. Sablaban IM, Sivananthan M. {{Letter to the Editor: Treating Autism-Associated Sexual Compulsions with Naltrexone}}. {J Child Adolesc Psychopharmacol}. 2020.
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16. Swanson MW, Lee SD, Frazier MG, Bade A, Coulter RA. {{Vision Screening among Children with Autism Spectrum Disorder}}. {Optometry and vision science : official publication of the American Academy of Optometry}. 2020.
SIGNIFICANCE: Vision problems occur at higher rates in children with autism spectrum disorder (ASD) than in the general population. Some professional organizations recommend that children with neurodevelopmental disorders need comprehensive assessment by eye care professionals rather than vision screening. METHODS: Data from the 2011 to 2012 National Survey of Children’s Health (NSCH) were accessed. Logistic regression was used to evaluate differences between vision screening rates in eye care professionals’ offices and other screening locations among children with and without ASD. RESULTS: Overall, 82.21% (95% confidence interval [CI], 78.35 to 86.06%) of children with ASD were reported to have had a vision screening as defined by the NSCH criteria. Among children younger than 5 years with ASD, 8.87% (95% CI, 1.27 to 16.5%) had a vision screening at a pediatrician’s office, 41.1% (95% CI, 20.54 to 61.70%) were screened at school, and 37.62% (95% CI, 9.80 to 55.45%) were examined by an eye care professionals. Among children with ASD older than 5 years, 24.84% (95% CI, 18.42 to 31.26%) were screened at school, 22.24% (95% CI, 17.26 to 27.21%) were screened at the pediatricians’ office, and 50.15% (95% CI, 44.22 to 56.08%) were examined by eye care professionals. Based on estimates from NSCH, no children in the U.S. population younger than 5 years with ASD screened in a pediatrician’s office were also seen by an eye care provider. CONCLUSIONS: If the public health goal is to have all children with ASD assessed in an eye care professional’s office, data from the NSCH indicate that we as a nation are falling far short of that target.
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17. Tassanakijpanich N, Cohen J, Cohen R, Srivatsa UN, Hagerman RJ. {{Cardiovascular Problems in the Fragile X Premutation}}. {Front Genet}. 2020; 11: 586910.
There is a dearth of information about cardiovascular problems in fragile X premutation carriers who have 55-200 CGG repeats in fragile X mental retardation 1 (FMR1) gene. The FMR1 expansion in the premutation range leads to toxic RNA gain-of-function resulting in cellular dysregulation. The mechanism of RNA toxicity underlies all of the premutation disorders including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X-associated neuropsychiatric disorder. Cardiovascular problems particularly autonomic dysfunction, hypertension, and cardiac arrhythmias are not uncommon in premutation carriers. Some arterial problems and valvular heart diseases have also been reported. This article reviews cardiovascular problems in premutation carriers and discusses possible contributing mechanisms including RNA toxicity and mild fragile X mental retardation protein deficiency. Further research studies are needed in order to prove a direct association of the cardiovascular problems in fragile X premutation carriers because such knowledge will lead to better preventative treatment.
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18. Wei J, Ma L, Ju P, Yang B, Wang YX, Chen J. {{Involvement of Oxytocin Receptor/Erk/MAPK Signaling in the mPFC in Early Life Stress-Induced Autistic-Like Behaviors}}. {Frontiers in cell and developmental biology}. 2020; 8: 564485.
The neonatal or infant period is a critical stage for the development of brain neuroplasticity. Early life stresses in the neonatal period, including neonatal maternal separation (NMS), have adverse effects on an increased risk of psychiatric disorders in juveniles and adults. However, the underlying molecular mechanisms are not largely understood. Here, we found that juvenile rats subjected to 4 h daily NMS during postnatal days 1 to 20 exhibited autistic-like behavioral deficits without impairments in learning and memory functions. Molecular mechanism studies showed that oxytocin receptor (OXTR) in the medial prefrontal cortex of NMS rats was evidently downregulated when compared with control pups, especially in neurons. Erk/MAPK signaling, the downstream coupling signaling of OTXR, was also inhibited in NMS juvenile rats. Treatment with oxytocin could relieve NMS-induced social deficit behaviors and activated phosphorylation of Erk/MAPK signaling. Furthermore, medication with the inhibitor of H3K4 demethylase alleviated the abnormal behaviors in NMS rats and increased the expression of OXTR in the medial prefrontal cortex, which showed an epigenetic mechanism underlying social deficits induced by NMS. Taken together, these findings identified a molecular mechanism by which disruptions of mother-infant interactions influenced later displays of typical social behaviors and suggested the potential for NMS-driven epigenetic tuning of OXTR expression.
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19. Windham GC, Pearl M, Poon V, Berger K, Soriano JW, Eyles D, Lyall K, Kharrazi M, Croen LA. {{Maternal Vitamin D Levels During Pregnancy in Association With Autism Spectrum Disorders (ASD) or Intellectual Disability (ID) in Offspring; Exploring Non-linear Patterns and Demographic Sub-groups}}. {Autism Res}. 2020.
Increasing vitamin D deficiency and evidence for vitamin D’s role in brain and immune function have recently led to studies of neurodevelopment; however, few are specific to autism spectrum disorder (ASD) and vitamin D in pregnancy, a likely susceptibility period. We examined this in a case-control study of 2000-2003 Southern Californian births; ASD and intellectual disability (ID) were identified through the Department of Developmental Services and controls from birth certificates (N = 534, 181, and 421, respectively, in this analysis). Total 25-Hydroxyvitamin D (25(OH)D) was measured in mid-pregnancy serum, categorized as deficient (<50 nmol/L), insufficient (50-74 nmol/L), or sufficient (≥75 nmol/L, referent category), and examined continuously (per 25 nmol/L). Crude and adjusted odds ratios (AORs) and 95% confidence intervals (95% CI) were calculated. Non-linearity was examined with cubic splines. AORs (95% CI) for ASD were 0.79 (0.49-1.3) for maternal deficiency (9.5%), 0.93 (0.68-1.3) for insufficiency (25.6%), and 0.95 (0.86, 1.05) for linear continuous 25(OH)D. Results were similarly null for ASD with or without ID, and ID only. Interactions were observed; non-Hispanic whites (NHW) (AOR = 0.82, 95% CI = 0.69-0.98) and males (AOR = 0.89, 95% CI = 0.80-0.99) had protective associations for ASD with continuous 25(OH)D. A positive association with ASD was observed in females (AOR = 1.40, 95% CI = 1.06-1.85). With splines, a non-linear inverted j-shaped pattern was seen overall (P = 0.009 for non-linearity), with the peak around 100 nmol/L; a non-linear pattern was not observed among NHW, females, nor for ID. Our findings from a large study of ASD and prenatal vitamin D levels indicate that further research is needed to investigate non-linear patterns and potentially vulnerable sub-groups. LAY SUMMARY: We studied whether mothers' vitamin D levels during pregnancy were related to their children having autism (or low IQ) later. Low vitamin D levels were not related to greater risk of autism or low IQ in children overall. With higher levels of mothers' vitamin D, risk of autism went down in boys, but went up in girls. Risk of autism also went down in children of non-Hispanic white mothers with higher vitamin D levels, but we did not find a relation in other race/ethnic groups. Lien vers le texte intégral (Open Access ou abonnement)
20. Wood-Downie H, Wong B, Kovshoff H, Cortese S, Hadwin JA. {{Research Review: A systematic review and meta-analysis of sex/gender differences in social interaction and communication in autistic and nonautistic children and adolescents}}. {J Child Psychol Psychiatry}. 2020.
BACKGROUND: Evidence increasingly suggests that ASD manifests differently in females than males. Previous reviews investigating sex/gender differences in social interaction and social communication have focused at the level of broad constructs (e.g. comparing algorithm scores from pre-existing diagnostic instruments) and have typically reported no significant differences between males and females. However, a number of individual studies have found sex/gender differences in narrow construct domains. METHODS: We conducted a systematic review and random effects model meta-analyses (in January 2019 and updated January 2020) that investigated sex/gender differences in narrow construct measures of social communication and interaction in autistic and nonautistic children and adolescents, and adults. Study quality was appraised using the Appraisal Tool for Cross-Sectional Studies (AXIS, BMJ Open, 6, 2016, 1). RESULTS: Across 16 studies (including 2,730 participants), the analysis found that female (vs. male) individuals with ASD had significantly better social interaction and social communication skills (SMD = 0.39, p < .001), which was reflective of a similar sex/gender profile in nonautistic individuals (SMD = 0.35, p < .001). Nonautistic males had significantly better social interaction and communication than males with ASD (SMD = 0.77, p < .001). Nonautistic females also had significantly better social interaction and communication than females with ASD (SMD = 0.72, p <.001). Nonautistic males had better social interaction and communication than females with ASD, though this difference was not significant (SMD = 0.30, p = .07). CONCLUSIONS: This systematic review and meta-analysis highlighted important sex/gender differences in social interaction and communication for individuals with ASD, likely not captured by pre-existing diagnostic instruments, which potentially contribute to the under recognition of autism in females, and may need to be reflected in the diagnostic process. Lien vers le texte intégral (Open Access ou abonnement)
21. Xu M, Minagawa Y, Kumazaki H, Okada KI, Naoi N. {{Prefrontal Responses to Odors in Individuals With Autism Spectrum Disorders: Functional NIRS Measurement Combined With a Fragrance Pulse Ejection System}}. {Front Hum Neurosci}. 2020; 14: 523456.
Individuals with autism spectrum disorders (ASD) are impaired not only in social competencies but also in sensory perception, particularly olfaction. The olfactory ability of individuals with ASD has been examined in several psychophysical studies, but the results have been highly variable, which might be primarily due to methodological difficulties in the control of odor stimuli (e.g., the problem of lingering scents). In addition, the neural correlates of olfactory specificities in individuals with ASD remain largely unknown. To date, only one study has investigated this issue using functional magnetic resonance imaging (fMRI). The present study utilized a sophisticated method-a pulse ejection system-to present well-controlled odor stimuli to participants with ASD using an ASD-friendly application. With this advantageous system, we examined their odor detection, identification, and evaluation abilities and measured their brain activity evoked by odors using functional near-infrared spectroscopy (fNIRS). As the odor detection threshold (DT) of participants with ASD was highly variable, these participants were divided into two groups according to their DT: an ASD-Low DT group and an ASD-High DT group. Behavioral results showed that the ASD-High DT group had a significantly higher DT than the typically developing (control) group and the ASD-Low DT group, indicating their insensitivity to the tested odors. In addition, while there was no significant difference in the odor identification ability between groups, there was some discrepancy between the groups’ evaluations of odor pleasantness. The brain data identified, for the first time, that neural activity in the right dorsolateral prefrontal cortex (DLPFC) was significantly weaker in the ASD-High DT group than in the control group. Moreover, the strength of activity in the right DLPFC was negatively correlated with the DT. These findings suggest that participants with ASD have impairments in the higher-order function of olfactory processing, such as olfactory working memory and/or attention.
