1. Abu-Akel A, Philip RCM, Lawrie SM, Johnstone EC, Stanfield AC. {{Categorical and Dimensional Approaches to Examining the Joint Effect of Autism and Schizotypal Personality Disorder on Sustained Attention}}. {Front Psychiatry};2020;11:798.
INTRODUCTION: Accumulating evidence for the co-occurrence autism spectrum disorder (ASD) and schizotypal personality disorder (SPD) at both the diagnostic and symptom levels raises important questions about the nature of their association and the effect of their co-occurrence on the individual’s phenotype and functional outcome. Research comparing adults with ASD and SPD, as well as the impact of their co-occurrence on outcomes is extremely limited. We investigated executive functioning in terms of response inhibition and sustained attention, candidate endophenotypes of both conditions, in adults with ASD, SPD, comorbid ASD and SPD, and neurotypical adults using both categorical and dimensional approaches. METHODS: A total of 88 adults (Mean Age = 37.54; SD = 10.17): ASD (n = 26; M/F = 20/6); SPD (n = 20; M/F = 14/6); comorbid ASD and SPD (n=9; M/F=6/3) and neurotypicals (n=33; M/F=23/10) completed the Sustained Attention to Response Task (SART) in both its fixed and random forms. Positive and autistic symptom severity was assessed with the positive subscale of the Positive and Negative Syndrome Scale (PANSSpos) and the PANSS Autism Severity Score (PAUSS), respectively. RESULTS: Controlling for full scale IQ, working memory and medication dosage, group analyses revealed that the comorbid group committed fewer omission errors than the ASD group on the fixed SART, and fewer omission errors than the ASD and SPD groups on the random SART. The individual difference analyses of the entire sample revealed that the PANSSpos and PAUSS interactively reduced omission errors in both the fixed and random SARTs, as well as increased d’ scores, indicative of improved overall performance. We observed no significant results for commission errors or reaction time. CONCLUSIONS: Concurrent elevated levels of autistic and positive psychotic symptoms seem to be associated with improved sustained attention abilities (reduced omission errors) but not inhibition (commission errors). Our findings highlight the importance of investigating the concurrent effect of ASD and SPD at both the symptom and diagnostic levels, and raise important questions for future research regarding the clinical and behavioral phenotypes of adults with dual diagnosis and, more generally, about the nature of the relationship between ASD and SPD.
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2. Alink A, Charest I. {{Clinically relevant autistic traits predict greater reliance on detail for image recognition}}. {Sci Rep};2020 (Aug 28);10(1):14239.
Individuals with an autism spectrum disorder (ASD) diagnosis are often described as having an eye for detail. But it remains to be shown that a detail-focused processing bias is a ubiquitous property of vision in individuals with ASD. To address this question, we investigated whether a greater number of autistic traits in neurotypical subjects is associated with an increased reliance on image details during a natural image recognition task. To this end, we use a novel reverse correlation-based method (feature diagnosticity mapping) for measuring the relative importance of low-level image features for object recognition. The main finding of this study is that image recognition in participants with an above-median number of autistic traits benefited more from the presence of high-spatial frequency image features. Furthermore, we found that this reliance-on-detail effect was best predicted by the presence of the most clinically relevant autistic traits. Therefore, our findings suggest that a greater number of autistic traits in neurotypical individuals is associated with a more detail-oriented visual information processing strategy and that this effect might generalize to a clinical ASD population.
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3. Allen L, Leon-Attia O, Shaham M, Shefer S, Gabis LV. {{Autism risk linked to prematurity is more accentuated in girls}}. {PLoS One};2020;15(8):e0236994.
INTRODUCTION: Prematurity has been identified as a risk factor for Autism Spectrum Disorder (ASD). The link between Autism Spectrum Disorder (ASD) and birth-week has not been strongly evidenced. We evaluated the correlation between the degree of prematurity and the incidence of autism in a cohort of 871 children born prematurely and followed from birth. The cohort was reduced to 416 premature infants born between 2011-2017 who were followed for 2-14 years, and analyzed according to birth week (degree of prematurity), and according to gender. RESULTS: 43 children (10.3%) received a definite diagnosis of ASD. There was a significant correlation between birth week and the risk of ASD, with 22.6% of children diagnosed with ASD when born at 25 weeks, versus 6% of ASD diagnoses at 31 weeks of prematurity. For children born after 32 weeks, the incidence decreased to 8-12.5%. A strong link was found between earlier birth week and increased autism risk; the risk remained elevated during near-term prematurity in boys. A correlation between early birth week and an elevated risk for ASD was seen in all children, but accentuated in females, gradually decreasing as birth week progresses; in males the risk for ASD remains elevated for any birth week. CONCLUSION: A statistically significant increase in rates of autism was found with each additional week of prematurity. Females drove this direct risk related to degree of prematurity, while males had an elevated risk throughout prematurity weeks, even at near-term. We recommend including ASD screening in follow up of infants born prematurely, at all levels of prematurity.
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4. Andersson M, Tangen Ä, Farde L, Bölte S, Halldin C, Borg J, Lundberg J. {{Serotonin transporter availability in adults with autism-a positron emission tomography study}}. {Mol Psychiatry};2020 (Aug 26)
Impairments in social interaction and communication, in combination with restricted, repetitive behaviors and interests, define the neurodevelopmental diagnosis of autism spectrum disorder (ASD). The biological underpinnings of ASD are not well known, but the hypothesis of serotonin (5-HT) involvement in the neurodevelopment of ASD is one of the longest standing. Reuptake through the 5-HT transporter (5-HTT) is the main pathway decreasing extracellular 5-HT in the brain and a marker for the 5-HT system, but in vivo investigations of the 5-HTT and the 5-HT system in ASD are scarce and so far inconclusive. To quantify possible alterations in the 5-HT system in ASD, we used positron emission tomography and the radioligand [(11)C]MADAM to measure 5-HTT availability in the brain of 15 adults with ASD and 15 controls. Moreover, we examined correlations between regional 5-HTT availability and behavioral phenotype assessments regarding ASD core symptoms. In the ASD group, we found significantly lower 5-HTT availability in total gray matter, brainstem, and 9 of 18 examined subregions of gray matter. In addition, several correlations between regional 5-HTT availability and social cognitive test performance were found. The results confirm the hypothesis that 5-HTT availability is lower in the brain of adult individuals with ASD, and are consistent with the theory of 5-HT involvement in ASD neurodevelopment. The findings endorse the central role of 5-HT in the physiology of ASD, and confirm the need for a continued investigation of the 5-HT system in order to disentangle the biology of ASD.
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5. Barnett A, Edwards K, Harper R, Evans E, Alexander D, Choudhary M, Richards G. {{The Association Between Autistic Traits and Disordered Eating is Moderated by Sex/Gender and Independent of Anxiety and Depression}}. {J Autism Dev Disord};2020 (Aug 27)
Previous studies have reported positive correlations between autistic traits and disordered eating, though it is unclear whether the association is moderated by sex/gender or whether it is independent of anxiety or depression. We present the findings of an online survey of 691 participants who completed the Autism Spectrum Quotient (AQ), Hospital Anxiety and Depression Scale (HADS), and Eating Attitudes Test-26 (EAT-26). Following a pre-registered analysis plan, we observed positive correlations between AQ and EAT-26 in males and females, with the association being significantly stronger in females. AQ also remained a significant predictor of EAT-26 when anxiety and depression were controlled for statistically. These findings may be relevant when considering therapeutic interventions in disordered eating populations that exhibit autistic traits.
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6. Berenguer C, Baixauli I, Gómez S, Andrés MEP, De Stasio S. {{Exploring the Impact of Augmented Reality in Children and Adolescents with Autism Spectrum Disorder: A Systematic Review}}. {Int J Environ Res Public Health};2020 (Aug 24);17(17)
Autistic Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by persistent difficulties in communication and social interaction along with a restriction in interests and the presence of repetitive behaviors. The development and use of augmented reality technology for autism has increased in recent years. However, little is known about the impact of these virtual reality technologies on clinical health symptoms. The aim of this systematic review was to investigate the impact of augmented reality through social, cognitive, and behavioral domains in children and adolescents with autism. This study is the first contribution that has carried out an evidence-based systematic review including relevant science databases about the effectiveness of augmented reality-based intervention in ASD. The initial search identified a total of 387 records. After the exclusion of papers that are not research studies and are duplicated articles and after screening the abstract and full text, 20 articles were selected for analysis. The studies examined suggest promising findings about the effectiveness of augmented reality-based treatments for the promotion, support, and protection of health and wellbeing in children and adolescents with autism. Finally, possible directions for future work are discussed.
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7. Boutrus M, Gilani Z, Maybery MT, Alvares GA, Tan DW, Eastwood PR, Mian A, Whitehouse AJO. {{Brief Report: Facial Asymmetry and Autistic-Like Traits in the General Population}}. {J Autism Dev Disord};2020 (Aug 26)
Atypical facial morphology, particularly increased facial asymmetry, has been identified in some individuals with Autism Spectrum Conditions (ASC). Many cognitive, behavioural and biological features associated with ASC also occur on a continuum in the general population. The aim of the present study was to examine subthreshold levels of autistic traits and facial morphology in non-autistic individuals. Facial asymmetry was measured using three-dimensional facial photogrammetry, and the Autism-spectrum Quotient was used to measure autistic-like traits in a community-ascertained sample of young adults (n = 289). After accounting for covariates, there were no significant associations observed between autistic-like traits and facial asymmetry, suggesting that any potential facial morphology differences linked to ASC may be limited to the clinical condition.
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8. Bunch L. {{Forced Nutrition of a Pediatric Patient with Autism Spectrum Disorder}}. {HEC Forum};2020 (Aug 27)
Autism spectrum disorder (ASD) affects an estimated 1 in 54 children aged 8 years in the United States (Maenner MJ, Shaw KA, Baio et al., 2020). For many of these children, there are concomitant eating and/or behavioral challenges that can make managing their nutritional health challenging. This commentary responds to a particularly challenging case in which a pediatric patient with ASD presented to the local hospital’s emergency department with severe weight loss and malnutrition.
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9. Carrington SJ, Barrett SL, Sivagamasundari U, Fretwell C, Noens I, Maljaars J, Leekam SR. {{Correction to: Describing the Profile of Diagnostic Features in Autistic Adults Using an Abbreviated Version of the Diagnostic Interview for Social and Communication Disorders (DISCO-Abbreviated)}}. {J Autism Dev Disord};2020 (Aug 27)
The original version of this article unfortunately contained two labelling errors in Fig. 3 and Figure S4.
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10. Chen X, Han X, Blanchi B, Guan W, Ge W, Yu YC, Sun YE. {{Graded and pan-neural disease phenotypes of Rett Syndrome linked with dosage of functional MeCP2}}. {Protein Cell};2020 (Aug 27)
Rett syndrome (RTT) is a progressive neurodevelopmental disorder, mainly caused by mutations in MeCP2 and currently with no cure. We report here that neurons from R106W MeCP2 RTT human iPSCs as well as human embryonic stem cells after MeCP2 knockdown exhibit consistent and long-lasting impairment in maturation as indicated by impaired action potentials and passive membrane properties as well as reduced soma size and spine density. Moreover, RTT-inherent defects in neuronal maturation could be pan-neuronal and occurred in neurons with both dorsal and ventral forebrain features. Knockdown of MeCP2 led to more severe neuronal deficits as compared to RTT iPSC-derived neurons, which appeared to retain partial function. Strikingly, consistent deficits in nuclear size, dendritic complexity and circuitry-dependent spontaneous postsynaptic currents could only be observed in MeCP2 knockdown neurons but not RTT iPSC-derived neurons. Both neuron-intrinsic and circuitry-dependent deficits of MeCP2-deficient neurons could be fully or partially rescued by re-expression of wild type or T158M MeCP2, strengthening the dosage dependency of MeCP2 on disease phenotypes and also the partial function of the mutant. Our findings thus reveal stable neuronal maturation deficits and unexpectedly, graded sensitivities of neuron-inherent and neural transmission phenotypes towards the extent of MeCP2 deficiency, which is informative for future therapeutic development.
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11. Constantino JN, Sahin M, Piven J, Rodgers R, Tschida J. {{The Impact of COVID-19 on Individuals With Intellectual and Developmental Disabilities: Clinical and Scientific Priorities}}. {Am J Psychiatry};2020 (Aug 28):appiajp202020060780.
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12. Costilla R, Kemper KE, Byrne EM, Porto-Neto LR, Carvalheiro R, Purfield DC, Doyle JL, Berry DP, Moore SS, Wray NR, Hayes BJ. {{Genetic control of temperament traits across species: association of autism spectrum disorder risk genes with cattle temperament}}. {Genet Sel Evol};2020 (Aug 26);52(1):51.
BACKGROUND: Temperament traits are of high importance across species. In humans, temperament or personality traits correlate with psychological traits and psychiatric disorders. In cattle, they impact animal welfare, product quality and human safety, and are therefore of direct commercial importance. We hypothesized that genetic factors that contribute to variation in temperament among individuals within a species will be shared between humans and cattle. Using imputed whole-genome sequence data from 9223 beef cattle from three cohorts, a series of genome-wide association studies was undertaken on cattle flight time, a temperament phenotype measured as the time taken for an animal to cover a short-fixed distance after release from an enclosure. We also investigated the association of cattle temperament with polymorphisms in bovine orthologs of risk genes for neuroticism, schizophrenia, autism spectrum disorders (ASD), and developmental delay disorders in humans. RESULTS: Variants with the strongest associations were located in the bovine orthologous region that is involved in several behavioural and cognitive disorders in humans. These variants were also partially validated in independent cattle cohorts. Genes in these regions (BARHL2, NDN, SNRPN, MAGEL2, ABCA12, KIFAP3, TOPAZ1, FZD3, UBE3A, and GABRA5) were enriched for the GO term neuron migration and were differentially expressed in brain and pituitary tissues in humans. Moreover, variants within 100 kb of ASD susceptibility genes were associated with cattle temperament and explained 6.5% of the total additive genetic variance in the largest cattle cohort. The ASD genes with the most significant associations were GABRB3 and CUL3. Using the same 100 kb window, a weak association was found with polymorphisms in schizophrenia risk genes and no association with polymorphisms in neuroticism and developmental delay disorders risk genes. CONCLUSIONS: Our analysis showed that genes identified in a meta-analysis of cattle temperament contribute to neuron development functions and are differentially expressed in human brain tissues. Furthermore, some ASD susceptibility genes are associated with cattle temperament. These findings provide evidence that genetic control of temperament might be shared between humans and cattle and highlight the potential for future analyses to leverage results between species.
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13. Cummings KK, Lawrence KE, Hernandez LM, Wood ET, Bookheimer SY, Dapretto M, Green SA. {{Sex Differences in Salience Network Connectivity and its Relationship to Sensory Over-Responsivity in Youth with Autism Spectrum Disorder}}. {Autism Res};2020 (Aug 28)
Individuals with autism spectrum disorder (ASD) are significantly more likely to experience sensory over-responsivity (SOR) compared to neurotypical controls. SOR in autism has been shown to be related to atypical functional connectivity in the salience network (SN), a brain network thought to help direct attention to the most relevant stimuli in one’s environment. However, all studies to date which have examined the neurobiological basis of sensory processing in ASD have used primarily male samples so little is known about sex differences in the neural processing of sensory information. This study examined the relationship between SOR and resting-state functional connectivity in the SN for 37 males and 16 females with autism, ages 8-17 years. While there were no sex differences in parent-rated SOR symptoms, there were significant sex differences in how SOR related to SN connectivity. Relative to females with ASD, males with ASD showed a stronger association between SOR and increased connectivity between the salience and primary sensory networks, suggesting increased allocation to sensory information. Conversely, for females with ASD, SOR was more strongly related to increased connectivity between the SN and prefrontal cortex. Results suggest that the underlying mechanisms of SOR in ASD are sex specific, providing insight into the differences seen in the diagnosis rate and symptom profiles of males and females with ASD. LAY SUMMARY: Sensory over-responsivity (SOR) is common in autism. Most research on the neural basis of SOR has focused on males, so little is known about SOR or its neurobiology in females with autism spectrum disorder. Here despite no sex differences in SOR symptoms, we found sex differences in how SOR related to intrinsic connectivity in a salience detection network. Results show sex differences in the neural mechanisms underlying SOR and inform sex differences seen in diagnosis rates and symptom profiles in autism.
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14. Dawson M, Fletcher-Watson S. {{Commentary: What conflicts of interest tell us about autism intervention research-a commentary on Bottema-Beutel et al. (2020)}}. {J Child Psychol Psychiatry};2020 (Aug 26)
Bottema-Beutel, Crowley, Sandbank, and Woynaroski (Journal of Child Psychology and Psychiatry, 2020) have performed a Herculean and invaluable task in their investigation of conflicts of interest (COIs) in nonpharmacological early autism intervention research. Drawing on a meta-analysis of 150 articles reporting group designs, they found COIs in 105 (70%), only 6 (5.7%) of which had fully accurate COI statements. Most reports had no COI statements, but among the 48 (32%) which did, the majority of those declaring no COIs had detectable COIs (23 of 30; 77%). Thus, COI reporting in the literature examined is routinely missing, misleading, and/or incomplete; accurate reporting is the exception rather than the rule. That 120 of the 150 reports were published in 2010 or later, compared to 6 pre-2000, tells us this is not about practices confined to decades past. Instead, it reflects and is a telling indictment of established standards in autism intervention research.
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15. Di Renzo M, Guerriero V, Zavattini GC, Petrillo M, Racinaro L, Bianchi di Castelbianco F. {{Parental Attunement, Insightfulness, and Acceptance of Child Diagnosis in Parents of Children With Autism: Clinical Implications}}. {Front Psychol};2020;11:1849.
Early parent-child relationships are an important factor influencing many domains of child development, even in the presence of autism. In this study, we investigated the associations between parent-child attunement during play, parental insightfulness, and parental acceptance of their child’s diagnosis of an autism spectrum disorder. A sample of 50 parents (26 mothers and 24 fathers) of 26 children aged between 24 and 58 months were videotaped during parent-child play interactions and then interviewed about what they thought had gone through their child’s head during the play interaction, and about their feelings and thoughts about their child’s diagnosis. Play interactions were evaluated using a coding protocol to assess parental attunement. The results showed that parents who were more able to accept their child’s diagnosis and to see things from their child’s perspective were more likely to also be attuned during play interactions with their children. These findings highlight the importance of studying the parental ability of insightfulness and acceptance of their child diagnosis of ASD for the implementation of intervention programs for supporting parental attunement and improving the interactions between the parents and the children with autism spectrum disorders.
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16. Dickter CL, Burk JA, Anthony LG, Robertson HA, Verbalis A, Seese S, Myrick Y, Anthony BJ. {{Assessment of Sesame Street online autism resources: Impacts on parental implicit and explicit attitudes toward children with autism}}. {Autism};2020 (Aug 25):1362361320949346.
The current study sought to characterize implicit bias toward children with autism and examine whether viewing educational materials about autism would change attitudes toward children with autism. A website developed by Sesame Street containing information about autism and resources for families was distributed to parents of children with autism (n = 473) and parents of children without autism (n = 707). Pre- and post-test measures of implicit bias toward children with autism; explicit attitudes and knowledge about autism; and parenting confidence, strain, and stigma were completed before and after the website was presented. Results indicated that parents of children with autism showed less implicit bias compared with those of non-autistic children during the pre-test, but the groups did not differ at the post-test. Parents without autistic children and those with more negative explicit attitudes showed a greater reduction in implicit bias from the pre- to the post-test. In addition, for parents of children with autism, a more positive change in explicit attitudes and increased knowledge from the pre- to the post-test was associated with more empowerment at the post-test. Together, our findings suggest that the online educational resources can reduce implicit bias against children with autism and help mitigate some of the psychological issues associated with parenting children with autism.
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17. Eissa N, Jayaprakash P, Stark H, Łażewska D, Kieć-Kononowicz K, Sadek B. {{Simultaneous Blockade of Histamine H(3) Receptors and Inhibition of Acetylcholine Esterase Alleviate Autistic-Like Behaviors in BTBR T+ tf/J Mouse Model of Autism}}. {Biomolecules};2020 (Aug 28);10(9)
Autism spectrum disorder (ASD) is a heterogenous neurodevelopmental disorder defined by persistent deficits in social interaction and the presence of patterns of repetitive and restricted behaviors. The central neurotransmitters histamine (HA) and acetylcholine (ACh) play pleiotropic roles in physiological brain functions that include the maintenance of wakefulness, depression, schizophrenia, epilepsy, anxiety and narcolepsy, all of which are found to be comorbid with ASD. Therefore, the palliative effects of subchronic systemic treatment using the multiple-active test compound E100 with high H(3)R antagonist affinity and AChE inhibitory effect on ASD-like behaviors in male BTBR T+tf/J (BTBR) mice as an idiopathic ASD model were assessed. E100 (5, 10 and 15 mg/kg, i.p.) dose-dependently palliated social deficits of BTBR mice and significantly alleviated the repetitive/compulsive behaviors of tested animals. Moreover, E100 modulated disturbed anxiety levels, but failed to modulate hyperactivity parameters, whereas the reference AChE inhibitor donepezil (DOZ, one milligram per kilogram) significantly obliterated the increased hyperactivity measures of tested mice. Furthermore, E100 mitigated the increased levels of AChE activity in BTBR mice with observed effects comparable to that of DOZ and significantly reduced the number of activated microglial cells compared to the saline-treated BTBR mice. In addition, the E100-provided effects on ASD-like parameters, AChE activity, and activated microglial cells were entirely reversed by co-administration of the H(3)R agonist (R)-α-methylhistamine (RAM). These initial overall results observed in an idiopathic ASD mice model show that E100 (5 mg/kg) alleviated the assessed behavioral deficits and demonstrate that simultaneous targeting of brain histaminergic and cholinergic neurotransmissions is crucial for palliation of ASD-like features, albeit further in vivo assessments on its effects on brain levels of ACh as well as HA are still needed.
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18. Gandhi A, Zhou D, Alaimo J, Chon E, Fountain MD, Elsea SH. {{Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD}}. {J Autism Dev Disord};2020 (Aug 26)
Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental syndromes, data were compared to reports of sleep disturbance in children with autism spectrum disorder (ASD). While similarities were observed with ASD, specific concerns between disorders differed, including mean nighttime sleep duration, daytime sleepiness, night wakings, parasomnias, restless sleep, and bedwetting. Overall, sleep disturbance in PTHS is significant but less severe than in SMS and MAND. The complexity of these conditions and the challenges of underlying sleep disturbance indicate the need for more support, education, and ongoing management of sleep for these individuals.
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19. Haigh SM, Endevelt-Shapira Y, Behrmann M. {{Trial-to-Trial Variability in Electrodermal Activity to Odor in Autism}}. {Autism Res};2020 (Aug 28)
Abnormal trial-to-trial variability (TTV) has been identified as a key feature of neural processing that is related to increased symptom severity in autism. The majority of studies evaluating TTV have focused on cortical processing. However, identifying whether similar atypicalities are evident in the peripheral nervous system will help isolate perturbed mechanisms in autism. The current study focuses on TTV in responses from the peripheral nervous system, specifically from electrodermal activity (EDA). We analyzed previously collected EDA data from 17 adults with autism and 19 neurotypical controls who viewed faces while being simultaneously exposed to fear (fear-induced sweat) and neutral odors. Average EDA peaks were significantly smaller and TTV was reduced in the autism group compared to controls, particularly during the fear odor condition. Amplitude and TTV were positively correlated in both groups, but the relationship was stronger in the control group. In addition, TTV was reduced in those with higher Autism Quotient scores but only for the individuals with autism. These findings confirm the existing results that atypical TTV is a key feature of autism and that it reflects symptom severity, although the smaller TTV in EDA contrasts with the previous findings of greater TTV in cortical responses. Identifying the relationship between cortical and peripheral TTV in autism is key for furthering our understanding of autism physiology. LAY SUMMARY: We compared the changes in electrodermal activity (EDA) to emotional faces over the course of repeated faces in adults with autism and their matched controls. The faces were accompanied by smelling fear-inducing odors. We found smaller and less variable responses to the faces in autism when smelling fear odors, suggesting that the peripheral nervous system may be more rigid. These findings were exaggerated in those who had more severe autism-related symptoms.
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20. Hill TL, White TC, Anthony BJ, Reaven J, Harris B, Reyes N, Anthony LG. {{Disparities in autism spectrum disorder diagnoses among 8-year-old children in Colorado: Who are we missing?}}. {Autism};2020 (Aug 28):1362361320950058.
Although autism can be reliably diagnosed as early as 2 years of age, many children are not diagnosed with autism until much later. We analyzed data to determine why many of the 8-year-old children who resided in Colorado and were identified as having autism through a review of their health and/or educational records did not have a documented clinical diagnosis of autism and were not eligible for special education services under an autism eligibility. We found that children who did not have a documented clinical diagnosis of autism and were not eligible for special education services under an autism eligibility were more likely to be female, aggressive, and argumentative. They had a poorer quality of information in their records and were less likely to have had a developmental regression, sleep problems, or an autism screener or diagnostic measure in their records. These results suggest that the symptoms characteristic of autism among this group of children may have been attributed to another disorder and that clinicians may be able to recognize autism more readily in children with more functional impairment and those who experience a developmental regression. We also discovered that differences in symptom presentations among children who had a documented clinical diagnosis of autism and/or were eligible for special education services under an autism eligibility were associated with different ages at autism diagnosis.
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21. Imamura T, Nakayama T, Nakayama J, Iwasaki N. {{A Patient with Rett Syndrome Maintained Motor Function by Periodic Rehabilitation Therapy and Proactive Daily Activities}}. {Prog Rehabil Med};2020;5:20200014.
BACKGROUND: The motor functions of Rett syndrome patients degrade during the course of the disease. Some patients, however, are able to maintain their motor functions by undertaking exercise programs. CASE: A 2-year-old girl was diagnosed with Rett syndrome after the identification of a mutation in the gene encoding the methyl-CpG-binding protein. The patient started weekly rehabilitation therapy; however, over time, this reduced to monthly sessions, and subsequently, because of worsening epileptic seizures, even fewer sessions were possible. When the patient was 12 years old, intensive rehabilitation therapy was undertaken for 1 month; therapy involved 80 min of in-hospital therapy on weekdays and walking exercises at home at the weekend. An accelerometer (Actiwatch 2, standard type, Philips Respironics) indicated that more than 60 min of daily training at an intensity of 3 metabolic equivalents (METs) or more was achieved at weekends. The patient took the 10-m walk test, and the average time reduced from 18.6 to 13.5 s and the number of steps reduced from 32 to 23 between the start and finish of the first 1-month intensive training regime. After being discharged from the hospital, the patient maintained walking exercises at school during weekdays and performed more than 50 min/day of activity at at least 3 METs at home on weekends, in addition to a weekly home-visit rehabilitation therapy and the annual in-hospital 1-month rehabilitation therapy. Four years later, the patent’s average time and number of steps required to walk 10 m remained lower (12.7 s, 24 steps) than those recorded at the first evaluation. DISCUSSION: Periodic rehabilitation therapy and proactive walking exercises at more than 3 METs for a duration of up to 50 min/day were instrumental in maintaining the motor functions of a Rett syndrome patient.
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22. Katsiana A, Strimpakos N, Ioannis V, Kapreli E, Sofologi M, Bonti E, Stiliani K, Stalikas A. {{Health-related Quality of Life in Children with Autism Spectrum Disorder and Children with Down Syndrome}}. {Mater Sociomed};2020 (Jun);32(2):93-98.
INTRODUCTION: Measuring health- related quality of life (HRQoL) is very important for children with developmental disorders such as autism spectrum disorder (ASD) and Down syndrome (DS). However, no HRQoL studies found in the literature for the differences between children with ASD and children with DS. AIM: The aim of this study was to examine HRQoL in children with ASD and children with DS. METHODS: The participants consisted of 206 children with ASD (61), DS (55) and typical development (TD) (90), aged 5-10 years old, after administering anonymous questionnaires to their parents-caregivers. The Pediatric Quality of Life Inventory ™ 4.0- Parent Report (PedsQL) was used to measure HRQoL. One-way analysis of variance and χ(2) were applied for comparisons among groups. RESULTS: TD group scored higher than ASD and DS in all comparisons. Post-hoc (Tukey) comparisons revealed that the statistically univariate effect was due to differences between the TD group and the other two groups, ASD and DS (p<0.01). The ASD group achieved significantly lower scores than DS in the emotional functioning scale. Post-hoc analysis did not reveal any significant differences between the DS and the ASD group in the physical health, psychosocial health and the total PedsQL summary scores. CONCLUSIONS: Children with ASD and DS had significantly lower HRQoL compared to a TD population, and this finding was not affected by age. Children with ASD demonstrated a significantly lower score in the emotional functioning scale than children with DS but are similar in the physical health scale. It is thus considered necessary to take the physical health scale into account when assessing and designing treatment for children with ASD. Future research studies should focus on HRQoL indicators that could serve as a standard diagnostic tool for the development of therapies and outcomes of assessment findings in ASD and DS. Lien vers le texte intégral (Open Access ou abonnement)
23. Kaufman NK. {{Rethinking « gold standards » and « best practices » in the assessment of autism}}. {Appl Neuropsychol Child};2020 (Aug 27):1-12.
Failure to correctly diagnosis autism is problematic in both the false-positive and false-negative directions. Diagnosing autism when it is not truly present can direct limited resources away from those who actually need the services, while also creating stress and confusion for individuals and families. In contrast, failure to correctly identify autism when it is indeed present can prevent individuals and families from receiving needed support, including early intervention services. Those familiar with current trends in autism assessment are likely aware of « gold standards » involving specific autism tests and « best practices » involving multi-disciplinary autism teams. Curiously, these « gold standard » and « best practice » proclamations have not been adequately scrutinized. The present article aims to address this gap in the literature by (a) discussing the value of autism tests/tools; (b) drawing attention to biasing influences in autism assessment; (c) identifying methodological flaws in « gold standard » autism assessment research; and (d) proposing that more assessment, not less, might be better in autism assessment. It is concluded that it is time to rethink « gold standards » and « best practices » in the assessment of autism.
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24. Kazeminejad A, Sotero RC. {{The Importance of Anti-correlations in Graph Theory Based Classification of Autism Spectrum Disorder}}. {Front Neurosci};2020;14:676.
With the release of the multi-site Autism Brain Imaging Data Exchange, many researchers have applied machine learning methods to distinguish between healthy subjects and autistic individuals by using features extracted from resting state functional MRI data. An important part of applying machine learning to this problem is extracting these features. Specifically, whether to include negative correlations between brain region activities as relevant features and how best to define these features. For the second question, the graph theoretical properties of the brain network may provide a reasonable answer. In this study, we investigated the first issue by comparing three different approaches. These included using the positive correlation matrix (comprising only the positive values of the original correlation matrix), the absolute value of the correlation matrix, or the anticorrelation matrix (comprising only the negative correlation values) as the starting point for extracting relevant features using graph theory. We then trained a multi-layer perceptron in a leave-one-site out manner in which the data from a single site was left out as testing data and the model was trained on the data from the other sites. Our results show that on average, using graph features extracted from the anti-correlation matrix led to the highest accuracy and AUC scores. This suggests that anti-correlations should not simply be discarded as they may include useful information that would aid the classification task. We also show that adding the PCA transformation of the original correlation matrix to the feature space leads to an increase in accuracy.
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25. Lai MC. {{Editorial: Meaningfully Stratifying the Autism Spectra}}. {J Am Acad Child Adolesc Psychiatry};2020 (Aug 21)
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26. Lee HY, Vigen C, Zwaigenbaum L, Smith IM, Brian J, Watson LR, Crais ER, Baranek GT. {{Construct validity of the First-Year Inventory (FYI Version 2.0) in 12-month-olds at high-risk for Autism Spectrum Disorder}}. {Autism};2020 (Aug 27):1362361320947325.
The First-Year Inventory 2.0 is a parent-report screening instrument designed to identify 12-month-old infants at risk for an eventual diagnosis of Autism Spectrum Disorder. This instrument focuses on Social-Communication and Sensory-Regulatory areas of infant behavior. Although the First-Year Inventory 2.0 screening performance has been previously studied, its validity has not been examined. Establishing validity of an instrument is important because it supports the effectiveness and the reliability of the instrument. In this study, we examined relationship between the First-Year Inventory 2.0 (Social-Communication and Sensory-Regulatory areas) and other instruments that measure similar areas of infant behavior in a sample of high-risk infant siblings of children with Autism Spectrum Disorder. These other instruments share some common aims and theoretical areas with the First-Year Inventory 2.0: the Autism Observation Scale for Infants, the Mullen Scales of Early Learning, the Vineland Adaptive Behavior Scales-II, and the Infant Behavior Questionnaire. Findings generally supported the validity of the First-Year Inventory 2.0 with other instruments. In particular, the Social-Communication area of the First-Year Inventory 2.0 showed greater commonality with other instruments than in the Sensory-Regulatory area. The Sensory-Regulatory area seemed to be a unique feature of the First-Year Inventory 2.0 instrument. Considering different aims and strengths of assessments, researchers and clinicians are encouraged to utilize a variety of instruments in a comprehensive evaluation of a child.
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27. Leeb RT, Danielson ML, Bitsko RH, Cree RA, Godfred-Cato S, Hughes MM, Powell P, Firchow B, Hart LC, Lebrun-Harris LA. {{Support for Transition from Adolescent to Adult Health Care Among Adolescents With and Without Mental, Behavioral, and Developmental Disorders – United States, 2016-2017}}. {MMWR Morb Mortal Wkly Rep};2020 (Aug 28);69(34):1156-1160.
Clinical guidelines recommend that primary care providers (PCPs) provide guidance and support to ensure a planned transition from pediatric to adult health care for adolescents, beginning at age 12 years (1). However, most adolescents do not receive the recommended health care transition planning (2). This is particularly concerning for adolescents with diagnosed mental, behavioral, and developmental disorders (MBDDs) (3), who account for approximately 20% of U.S. adolescents (4). Childhood MBDDs are linked to increased long-term morbidity and mortality; timely health care transition planning might mitigate adverse outcomes (5,6). CDC analyzed pooled, parent-reported data from the 2016 and 2017 National Survey of Children’s Health (NSCH), comparing adolescents, aged 12-17 years, with and without MBDDs on a composite measure and specific indicators of recommended health care transition planning by PCPs. Overall, approximately 15% of adolescents received recommended health care transition planning: 15.8% (95% confidence interval [CI] = 14.1%-17.5%) of adolescents with MBDDs, compared with 14.2% (95% CI = 13.2%-15.3%) of adolescents without MBDDs. Relative to peers without MBDDs and after adjusting for age, adolescents with anxiety were 36% more likely to receive recommended health care transition planning, and those with depression were 69% more likely; adolescents with autism spectrum disorder (ASD) were 35% less likely to receive such transition planning, and those with developmental delay* were 25% less likely. Fewer than 20% of adolescents with MBDDs receiving current treatment met the transition measure. These findings suggest that a minority of adolescents with MBDDs receive recommended transition planning, indicating a potential missed public health opportunity to prevent morbidity and mortality in a population at high risk for health care disengagement (1). Improving access to comprehensive and coordinated programs and services,(†) as well as increasing provider training concerning adolescents’ unique mental and physical health care needs (7), could help increase the number of adolescents benefiting from successful health care transitions (4).
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28. Liu F, Liu S, Chai J. {{Problems in treatment and training of autistic children growing up in China: A follow-up case report}}. {Pediatr Investig};2020 (Jun);4(2):138-140.
INTRODUCTION: Currently, interventions for children with autism spectrum disorders (ASD) in China are mainly carried out by professionals in rehabilitation institutions and special schools. However, when autistic children are older, they do not receive effective training and treatment, and there is no specific place in society to accommodate autistic adults. Mental hospitals are usually their ultimate home. CASE PRESENTATION: We report a 22-year-old male with ASD. The manifestation and/or intervention from the age of 3 years to now were recorded. He has been hospitalized in the closed ward of a mental hospital since 2015. CONCLUSION: This report typically present the current problems in treatment and training of autistic children growing up in China. Life-long rehabilitation training is important for every patient with ASD. Relevant policies and resources in China should be optimized in terms of medical treatment and health care, education and training, social assistance, social security, labor employment, and social culture.
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29. Lovelace JW, Ethell IM, Binder DK, Razak KA. {{Minocycline Treatment Reverses Sound Evoked EEG Abnormalities in a Mouse Model of Fragile X Syndrome}}. {Front Neurosci};2020;14:771.
Fragile X Syndrome (FXS) is a leading known genetic cause of intellectual disability. Many symptoms of FXS overlap with those in autism including repetitive behaviors, language delays, anxiety, social impairments and sensory processing deficits. Electroencephalogram (EEG) recordings from humans with FXS and an animal model, the Fmr1 knockout (KO) mouse, show remarkably similar phenotypes suggesting that EEG phenotypes can serve as biomarkers for developing treatments. This includes enhanced resting gamma band power and sound evoked total power, and reduced fidelity of temporal processing and habituation of responses to repeated sounds. Given the therapeutic potential of the antibiotic minocycline in humans with FXS and animal models, it is important to determine sensitivity and selectivity of EEG responses to minocycline. Therefore, in this study, we examined if a 10-day treatment of adult Fmr1 KO mice with minocycline (oral gavage, 30 mg/kg per day) would reduce EEG abnormalities. We tested if minocycline treatment has specific effects based on the EEG measurement type (e.g., resting versus sound-evoked) from the frontal and auditory cortex of the Fmr1 KO mice. We show increased resting EEG gamma power and reduced phase locking to time varying stimuli as well as the 40 Hz auditory steady state response in the Fmr1 KO mice in the pre-drug condition. Minocycline treatment increased gamma band phase locking in response to auditory stimuli, and reduced sound-evoked power of auditory event related potentials (ERP) in Fmr1 KO mice compared to vehicle treatment. Minocycline reduced resting EEG gamma power in Fmr1 KO mice, but this effect was similar to vehicle treatment. We also report frequency band-specific effects on EEG responses. Taken together, these data indicate that sound-evoked EEG responses may serve as more sensitive measures, compared to resting EEG measures, to isolate minocycline effects from placebo in humans with FXS. Given the use of minocycline and EEG recordings in a number of neurodegenerative and neurodevelopmental conditions, these findings may be more broadly applicable in translational neuroscience.
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30. Maat A, Therman S, Swaab H, Ziermans T. {{The Attenuated Psychosis Syndrome and Facial Affect Processing in Adolescents With and Without Autism}}. {Front Psychiatry};2020;11:759.
BACKGROUND: Autism and schizophrenia spectrum disorders both represent severely disabling neurodevelopmental disorders with marked impairments in social functioning. Despite an increased incidence of psychosis in autism, and substantial overlap in symptoms and cognitive markers, it is unclear whether such phenotypes are specifically related to risk for psychosis or perhaps reflect more general, idiosyncratic autism traits. The attenuated psychosis syndrome (APS) is primarily defined by the presence of attenuated psychotic symptoms, which currently constitute the best and most-replicated clinical predictors of psychosis, and are common in clinical youth with and without autism. The aims of this study were to test the hypothesis that facial affect processing is impaired in adolescents with APS and to explore whether such deficits are more indicative of psychotic or autistic phenotypes on a categorical and dimensional level. MATERIALS AND METHOD: Fifty-three adolescents with APS and 81 typically developing controls (aged 12-18) were included. The APS group consisted of adolescents with (n = 21) and without (n = 32) a diagnosis of autism spectrum disorder. Facial affect recognition was assessed with the Amsterdam Neuropsychological Tasks using a cascade model of cognitive processing, in which disturbances in « lower-level » cognitive abilities (pattern recognition), affect « higher-level » cognitive processes (face recognition and facial affect recognition). For associations with schizotypal and autistic-like traits the Schizotypal Personality Questionnaire and Social Communication Questionnaire were used in a confirmatory item factor analysis framework. RESULTS: Contrary to expectation, APS in adolescents was not associated with impairments in pattern, face, or facial affect recognition. However, the APS group with autism spectrum disorder showed a general latency in response time to social and non-social stimuli. Dimensionally assessed schizotypal and autistic-like traits did not predict the accuracy or the speed of face or facial affect recognition. CONCLUSION: Facial affect processing performance was not associated with APS in adolescence and represents an unlikely early vulnerability marker for psychosis. APS individuals with a more autistic-like profile were characterized by slower responses to social- and non-social stimuli, suggesting that the combined effect of APS and autism spectrum disorder on cognition is larger than for APS alone.
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31. McCauley JB, Pickles A, Huerta M, Lord C. {{Defining Positive Outcomes in More and Less Cognitively Able Autistic Adults}}. {Autism Res};2020 (Aug 27)
Identifying positive outcomes for a wide range of intellectual abilities in autism spectrum disorder (ASD) remains a challenge. Several past studies of autistic adults have used outcome definitions that do not reflect the experiences of less cognitively able adults. The aim of the current study was to (1) define three domains of outcomes: autonomy, social relationships, and purpose, and (2) examine how these outcomes relate to concurrent aspects of adult functioning. Using data from a longitudinal sample of 126 adults (85% diagnosed with ASD at some point), mean age 26, who first entered the study in early childhood, we generated distinct outcomes for less (daily living skills above an 8-year-old level, having regular activities outside the home, and social contacts outside the family) and more cognitively able adults (living independently, having paid employment, and at least one true friend). Verbal IQ, assessed in adulthood, was a significant predictor of more outcomes achieved for individuals within more and less cognitively able groups. For less cognitively able adults, having ever received a formal ASD diagnosis (in contrast to current Autism Diagnostic Observation Schedule [ADOS] CSS scores) was associated with lower odds of positive outcomes. For more cognitively able adults, living skills and happiness measures were positively associated with number of outcomes met; higher ADOS CSS, internalizing and externalizing symptoms, being racially diverse, and having caregiver education below college graduation were all negatively associated with the number of positive outcomes. Tailoring outcomes to ability levels may lead to better identification of goals and service needs. LAY SUMMARY: This article describes the outcomes of autistic adults who are more and less cognitively able. For less cognitively able individuals, an earlier autism diagnosis was negatively related to outcomes. Several factors that were associated with positive outcomes for more cognitively able individuals, including daily living skills, fewer mental health problems, family demographics, and subjective measures of happiness. Our study identifies several important factors for families, individuals, and service providers to consider and discuss when planning the transition to adulthood.
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32. Mendoza J, Downs J, Wong K, Leonard H. {{Determinants of quality of life in Rett syndrome: new findings on associations with genotype}}. {J Med Genet};2020 (Aug 25)
BACKGROUND: Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. METHODS: The International Rett Syndrome Database, InterRett, was used as a sampling frame for this observational study. Information was collected to describe functional abilities (walking and feeding), health (Sleep Disorder Scale for Children, the Rett Syndrome Behavioural Questionnaire), parental health (12-item Short Form Health Survey) sociodemographic factors (parental employment and education) and quality of life (Quality of Life Inventory-Disability) for 210 individuals with Rett syndrome. Univariate and multivariate regressions were used to analyse the relationships between the independent variables and quality of life. RESULTS: Compared with individuals with the p.Arg270* mutation, those with the p.Arg294* mutation type had the poorest quality of life (coeff -12.81, 95% CI -23.49 to 2.12), despite this being recognised as a clinically milder genotype. Overall better walking and feeding skills and seizure parameters were more associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life. CONCLUSIONS: These findings suggest that genotype, functioning and health each have implications for quality of life and should be considered when counselling families and planning clinical and support management strategies.
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33. Moreno-Pérez FJ, Rodríguez-Ortiz IR, Tavares G, Saldaña D. {{Comprehending reflexive and clitic constructions in children with autism spectrum disorder and developmental language disorder}}. {Int J Lang Commun Disord};2020 (Aug 26)
BACKGROUND: It has been established that people with autism spectrum disorder (ASD) often have difficulties understanding spoken language. Understanding reflexive and clitic pronouns is vital to establishing reference-based inference, but it is as yet unclear whether such constructions pose specific difficulties for those with ASD. Pronoun interpretation seems be connected to the development of pragmatic abilities, and can therefore be considered a plausible marker in the differential diagnosis between ASD and developmental language disorder (DLD). AIMS: To establish whether or not there are differences between ASD and DLD in relation to their understanding of pronoun constructions (both reflexive and clitic). The working hypothesis was that although no differences were expected between groups in relation to automatic (online) pronoun processing, the comprehension of reflexive pronouns would constitute a diagnostic marker between the group with ASD and language disorder and the DLD group. METHODS & PROCEDURES: The study carried out two experiments with three clinical groups (two with ASD and different levels of language proficiency and one with DLD) and two control groups with typically developing people (with equivalent language levels), analysing their on- and offline processing in pronoun resolution tasks. The first experiment uses an online method (eye-tracking) to record pronoun processing in real time. The second uses an offline method to analyse comprehension accuracy. OUTCOMES & RESULTS: The results of the two experiments indicated no differences in the way in which the clinical and control groups resolved the tasks, but a shorter reaction time was observed only in the age-matched control group in comparison with the ASD group without language disorder in the first experiment, perhaps due to the fact that processing pronouns involves a greater cognitive load among the latter group. CONCLUSIONS & IMPLICATIONS: The comprehension of reflexive pronouns cannot be considered a diagnostic marker for distinguishing ASD from DLD. What this paper adds What is already known on the subject Previous studies have found that the performance of children with ASD in the comprehension of personal pronouns is equivalent to youngest control groups, but poorer regarding the interpretation of reflective pronouns. However, children with DLD do not usually have problems with the use of pronouns, which suggests that their pronoun processing is not affected. As pronoun interpretation seems be connected to the development of pragmatic abilities, it could be considered a plausible marker in the differential diagnosis between ASD and DLD. What this paper adds to existing knowledge This paper presents the results of two experiments involving pronoun processing by those with ASD (both with and without language disorder) and those with DLD. The design enables us to analyse the reflexive and clitic pronoun processing in people with ASD and DLD, regardless of their language proficiency. One experiment uses an eye-tracking methodology that allows us to obtain data about how the pronouns are processed in real time. It represents an attempt to identify language markers that may help distinguish between the two groups and adapt the interventions to the specific problems experienced by each one. What are the potential or actual clinical implications of this work? The results indicate that it is not possible to identify any specific impairment in pronoun processing among the clinical groups (ASD and DLD).
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34. Moyses-Oliveira M, Yadav R, Erdin S, Talkowski ME. {{New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders}}. {Curr Opin Genet Dev};2020 (Aug 23);65:195-206.
Over the last two years, remarkable gene discovery efforts have implicated disruption of pathways involving gene regulatory functions and neuronal processes in autism spectrum disorder (ASD), and more broadly defined neurodevelopmental disorders (NDDs). Functional studies in the developing brain and across cell types demonstrate that the spatiotemporal expression patterns of many of these genes coalesce on subnetworks with distinct developmental trajectories. Here, we review the convergent biological processes derived from gene discovery and functional genomics in ASD and NDD from 2018-2020. We further probe the mechanistic insights that suggest these frequently perturbed pathways are interconnected and, ultimately, converge on specific functional deficits in human neurodevelopment.
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35. Murugesan BG, Jafroodifar A, Anilkumar AC, Leontieva L. {{Differential Diagnosis of Landau-Kleffner Syndrome Versus Post Encephalitis Syndrome in a 13-year-old Boy With Autism Spectrum Disorder}}. {Cureus};2020 (Jul 25);12(7):e9385.
Landau-Kleffner syndrome (LKS) is a rare childhood neurological condition that causes developmental regression, loss of language skills and abnormal electroencephalogram (EEG) patterns. Its etiology is unknown. This report describes a case of a 13-year-old boy who at 3.5 years of age was bitten by a tick. Two months thereafter, he began losing previously acquired developmental and language skills, and developed seizures. The seizures subsided with valproic acid treatment, but the developmental delays persisted. Family history and disease progression reports obtained from the patient’s father revealed that the patient displayed repetitive behaviors prior to the age of three. Clinical observation also showed the patient having numerous repetitive vocalizations and movements along with difficulty with switching sets. His developmental age at the time of presentation was determined to be 3 to 4 years of age. During the course of diagnostic testing, we were able to rule out tick-borne encephalitis (TBE) and rule in LKS in a premorbidly autistic child. This case describes the similarities between the three conditions and the diagnostic investigations used to arrive at a final diagnosis.
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36. Nicolaidis C, Schnider G, Lee J, Raymaker DM, Kapp SK, Croen LA, Urbanowicz A, Maslak J. {{Development and psychometric testing of the AASPIRE Adult Autism Healthcare Provider Self-Efficacy Scale}}. {Autism};2020 (Aug 28):1362361320949734.
The adult healthcare system is ill-prepared to provide high-quality care to autistic adults. Lack of provider training may contribute to the problem, but there are few previously tested survey instruments to guide provider training efforts. Our objective was to develop and test a measure of healthcare providers’ confidence (or « self-efficacy ») in providing healthcare to autistic adults and to use it to better understand their training needs. We used a community-based participatory research (CBPR) approach, in partnership with academic researchers, autistic adults, supporters, and healthcare providers, throughout the project. We developed a one-page questionnaire and surveyed 143 primary care providers from eight primary care clinics in Oregon and California, United States. Preliminary testing of the AASPIRE Adult Autism Healthcare Provider Self-Efficacy Scale suggests that the measure is reliable and valid. Using this scale, we found only a minority of providers reported high confidence in communicating with patients (25%); performing physical exams or procedures (43%); accurately diagnosing and treating other medical issues (40%); helping patients stay calm and comfortable during visits (38%); identifying accommodation needs (14%); and making necessary accommodations (16%). While providers need training across all aspects of care related to autism in adulthood, interventions should pay particular attention to helping providers communicate with patients, and identify and make necessary accommodations. Future research is needed to further validate this scale and to understand how to meet providers’ training needs most effectively.
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37. Nuzzo T, Sekine M, Punzo D, Miroballo M, Katane M, Saitoh Y, Galbusera A, Pasqualetti M, Errico F, Gozzi A, Mothet JP, Homma H, Usiello A. {{Dysfunctional d-aspartate metabolism in BTBR mouse model of idiopathic autism}}. {Biochim Biophys Acta Proteins Proteom};2020 (Aug 25);1868(12):140531.
BACKGROUND: Autism spectrum disorders (ASD) comprise a heterogeneous group of neurodevelopmental conditions characterized by impairment in social interaction, deviance in communication, and repetitive behaviors. Dysfunctional ionotropic NMDA and AMPA receptors, and metabotropic glutamate receptor 5 activity at excitatory synapses has been recently linked to multiple forms of ASD. Despite emerging evidence showing that d-aspartate and d-serine are important neuromodulators of glutamatergic transmission, no systematic investigation on the occurrence of these D-amino acids in preclinical ASD models has been carried out. METHODS: Through HPLC and qPCR analyses we investigated d-aspartate and d-serine metabolism in the brain and serum of four ASD mouse models. These include BTBR mice, an idiopathic model of ASD, and Cntnap2(-/-), Shank3(-/-), and 16p11.2(+/-) mice, three established genetic mouse lines recapitulating high confidence ASD-associated mutations. RESULTS: Biochemical and gene expression mapping in Cntnap2(-/-), Shank3(-/-), and 16p11.2(+/-) failed to find gross cerebral and serum alterations in d-aspartate and d-serine metabolism. Conversely, we found a striking and stereoselective increased d-aspartate content in the prefrontal cortex, hippocampus and serum of inbred BTBR mice. Consistent with biochemical assessments, in the same brain areas we also found a robust reduction in mRNA levels of d-aspartate oxidase, encoding the enzyme responsible for d-aspartate catabolism. CONCLUSIONS: Our results demonstrated the presence of disrupted d-aspartate metabolism in a widely used animal model of idiopathic ASD. GENERAL SIGNIFICANCE: Overall, this work calls for a deeper investigation of D-amino acids in the etiopathology of ASD and related developmental disorders.
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38. Papp LM, Drastal KC, Lorang EK, Hartley SL. {{Mother-father physiological synchrony during conflict and moderation by parenting challenges: Findings from parents of children with autism spectrum disorder}}. {Fam Syst Health};2020 (Aug 27)
INTRODUCTION: Despite robust evidence in the broader family process literature for within-couple associations between romantic partners’ physiological responding, this linkage has not been tested directly among parents raising a child with autism spectrum disorder (ASD). Explicit attention to these parents is warranted on the basis of the established family-wide challenges associated with the persistent emotional, functional, and behavior impairments typically observed in children with ASD (see Karst & Van Hecke, 2012). The first purpose of this study is to extend examination of within-couple associations between electrodermal activity (EDA) to mothers and fathers of children with ASD. The second purpose is to test 2 potential moderators of EDA synchrony reflecting heightened challenges among parents of children with ASD, namely parenting as an observed conflict topic and global parenting stress. METHOD: Both parents wore wrist sensors that captured continuous EDA during a recorded marital conflict interaction. Trained coders provided ratings of emotional intensity and conflict topics, including whether the topic of parenting was discussed. Parents reported their global level of parenting stress. Dyadic multilevel modeling was used to test our hypotheses and accounted for interaction factors (e.g., movement data, emotional intensity). RESULTS: Findings identified significant positive associations between parents’ EDA. One moderator result emerged; specifically, father EDA was a stronger predictor of mother EDA when parenting was discussed as a conflict topic. CONCLUSION: This study extends evidence of within-couple physiological linkage to parents raising a child with ASD and provides a foundation for future research examining the family-wide implications of this linkage. (PsycInfo Database Record (c) 2020 APA, all rights reserved).
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39. Pehlivanidis A, Papanikolaou K, Mantas V, Kalantzi E, Korobili K, Xenaki LA, Vassiliou G, Papageorgiou C. {{Lifetime co-occurring psychiatric disorders in newly diagnosed adults with attention deficit hyperactivity disorder (ADHD) or/and autism spectrum disorder (ASD)}}. {BMC Psychiatry};2020 (Aug 26);20(1):423.
BACKGROUND: Co-occurring psychiatric disorders in adults with Attention Deficit Hyperactivity Disorder (ADHD) and/or Autism Spectrum Disorder (ASD) contribute to the burden of the healthcare and possibly to the delay of diagnosis. Aim of the study was to clinically assess the prevalence and compare lifetime co-occurring psychopathology in a sample of newly diagnosed ADHD and/or ASD adults and discuss the diagnostic challenges they pose. METHODS: The lifetime prevalence rates of ten of the most frequently co-occurring psychiatric diagnoses was registered in 336 adults of normal intelligence who underwent a thorough clinical evaluation for the diagnosis of ADHD and/or ASD for the first time in their lives. Four study groups were formed: the ADHD (n = 151), the ASD (n = 58), the ADHD+ASD (n = 28) and the nonADHD/nonASD (NN) (n = 88) group. RESULTS: At least one co-occurring psychopathology was found in 72.8% of the ADHD group, in 50% of the ASD group, in 72.4% of the ADHD+ASD group and in 76.1% of the NN group (p = 0.004). In all groups the most frequent psychiatric disorder was depressive disorder. The only significant difference regarding the patterns of psychiatric co-occurrence between the ADHD and the nonADHD groups (ASD and NN groups) was found for SUD (p = 0.001). Also, the proportion of subjects with Bipolar Disorder was significantly greater in the NN group as compared to those with ASD (p = 0.025). CONCLUSIONS: Our results support the high prevalence of co-occurring psychiatric disorders in adults with ADHD and/or ASD with the ASD group presenting the lowest rate. The most marked difference between the ADHD and the nonADHD groups was found for SUD. Moreover, our findings highlight the need for a thorough clinical assessment of all referred patients both in the presence and absence of ADHD and/or ASD.
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40. Peña M, Ng Y, Ripat J, Anagnostou E. {{Brief Report: Parent Perspectives on Sensory-Based Interventions for Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2020 (Aug 27)
Sensory-Based Interventions (SBIs) are often recommended to enable function/participation in children with ASD. Still, there are limited studies to evaluate their effectiveness. Acceptability studies are an important step towards establishing effective interventions. We examined parents’ perceptions of the uptake and acceptability of such interventions. An online survey was sent to 399 families; response rate was 39%. The most frequently therapist-recommended interventions were trampoline (54.6%), massage (47.8%), and oral-motor tools (43.8%). Highest use was reported for massage (96.3%), trampoline (89.2%) and joint compressions and brushing (89.2%). The majority of parents viewed these interventions to be very important /important, (74.8%) but barriers to their use were identified. High acceptability of SBIs was reported by parents of children with ASD.
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41. Raghavan R, Selhub J, Paul L, Ji Y, Wang G, Hong X, Zuckerman B, Fallin MD, Wang X. {{A prospective birth cohort study on cord blood folate subtypes and risk of autism spectrum disorder}}. {Am J Clin Nutr};2020 (Aug 25)
BACKGROUND: We previously reported that extremely high concentrations of maternal plasma folate were associated with increased risk of autism spectrum disorder (ASD) in children. This study explored whether specific types of folate in cord blood have differential association with ASD. OBJECTIVES: In the Boston Birth Cohort (BBC), we assessed the association between cord blood unmetabolized folic acid (UMFA), 5-methyl tetrahydrofolate (THF), and total folate and a child’s ASD risk. In a subset, we explored whether the association between UMFA and ASD risk can be affected by the dihydrofolate reductase (DHFR) genotype and cord plasma creatinine. We also examined prenatal correlates of cord UMFA concentrations. METHODS: This report included 567 BBC children (92 ASD, 475 neurotypical), who were recruited at birth and prospectively followed at the Boston Medical Center. ASD was defined from International Classification of Diseases (ICD)-9 and ICD-10 codes documented in electronic medical records. RESULTS: Children with cord UMFA in the highest, versus lowest quartile, had a greater ASD risk (adjusted OR, aORquartile4: 2.26; 95% CI: 1.08, 4.75). When stratified by race/ethnicity, the association was limited to 311 (45 ASD) Black children (aORquartile4: 9.85; 95% CI: 2.53, 38.31); a test of interaction between race/ethnicity and cord UMFA concentrations was significant (P = 0.007). The UMFA-ASD association in Black children slightly attenuated after adjusting for cord plasma creatinine (P = 0.05). There was no significant association between cord 5-methyl THF, total folate, DHFR genotype, and ASD risk. Cord total folate and maternal supplement intake during second trimester were associated with higher cord UMFA. CONCLUSIONS: Higher concentrations of cord UMFA, but not 5-methyl THF or total folate, were associated with a greater risk of ASD in Black children. This study in a preterm-birth-enriched cohort raises more questions than it could answer and underscores the need for additional investigations on the sources and role of cord UMFA in children’s neurodevelopmental outcomes and underlying mechanisms.
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42. Raymaker DM, Teo AR, Steckler NA, Lentz B, Scharer M, Delos Santos A, Kapp SK, Hunter M, Joyce A, Nicolaidis C. {{« Having All of Your Internal Resources Exhausted Beyond Measure and Being Left with No Clean-Up Crew »: Defining Autistic Burnout}}. {Autism in adulthood : challenges and management};2020 (Jun 1);2(2):132-143.
Background: Although autistic adults often discuss experiencing « autistic burnout » and attribute serious negative outcomes to it, the concept is almost completely absent from the academic and clinical literature. Methods: We used a community-based participatory research approach to conduct a thematic analysis of 19 interviews and 19 public Internet sources to understand and characterize autistic burnout. Interview participants were autistic adults who identified as having been professionally diagnosed with an autism spectrum condition. We conducted a thematic analysis, using a hybrid inductive-deductive approach, at semantic and latent levels, through a critical paradigm. We addressed trustworthiness through multiple coders, peer debriefing, and examination of contradictions. Results: Autistic adults described the primary characteristics of autistic burnout as chronic exhaustion, loss of skills, and reduced tolerance to stimulus. They described burnout as happening because of life stressors that added to the cumulative load they experienced, and barriers to support that created an inability to obtain relief from the load. These pressures caused expectations to outweigh abilities resulting in autistic burnout. Autistic adults described negative impacts on their health, capacity for independent living, and quality of life, including suicidal behavior. They also discussed a lack of empathy from neurotypical people and described acceptance and social support, time off/reduced expectations, and doing things in an autistic way/unmasking as associated in their experiences with recovery from autistic burnout. Conclusions: Autistic burnout appears to be a phenomenon distinct from occupational burnout or clinical depression. Better understanding autistic burnout could lead to ways to recognize, relieve, or prevent it, including highlighting the potential dangers of teaching autistic people to mask or camouflage their autistic traits, and including burnout education in suicide prevention programs. These findings highlight the need to reduce discrimination and stigma related to autism and disability. LAY SUMMARY: Why was this study done?: Autistic burnout is talked about a lot by autistic people but has not been formally addressed by researchers. It is an important issue for the autistic community because it is described as leading to distress; loss of work, school, health, and quality of life; and even suicidal behavior.What was the purpose of this study?: This study aimed to characterize autistic burnout, understand what it is like, what people think causes it, and what helps people recover from or prevent it. It is a first step in starting to understand autistic burnout well enough to address it.What did the researchers do?: Our research group-the Academic Autism Spectrum Partnership in Research and Education-used a community-based participatory research approach with the autistic community in all stages of the study. We analyzed 9 interviews from our study on employment, 10 interviews about autistic burnout, and 19 public Internet sources (five in-depth). We recruited in the United States by publicizing on social media, by word of mouth, and through community connections. When analyzing interviews, we took what people said at face value and in deeper social context, and looked for strong themes across data.What were the results of the study?: The primary characteristics of autistic burnout were chronic exhaustion, loss of skills, and reduced tolerance to stimulus. Participants described burnout as happening because of life stressors that added to the cumulative load they experienced, and barriers to support that created an inability to obtain relief from the load. These pressures caused expectations to outweigh abilities resulting in autistic burnout. From this we created a definition:Autistic burnout is a syndrome conceptualized as resulting from chronic life stress and a mismatch of expectations and abilities without adequate supports. It is characterized by pervasive, long-term (typically 3+ months) exhaustion, loss of function, and reduced tolerance to stimulus.Participants described negative impacts on their lives, including health, capacity for independent living, and quality of life, including suicidal behavior. They also discussed a lack of empathy from neurotypical people. People had ideas for recovering from autistic burnout including acceptance and social support, time off/reduced expectations, and doing things in an autistic way/unmasking.How do these findings add to what was already known?: We now have data that autistic burnout refers to a clear set of characteristics, and is different from workplace burnout and clinical depression. We have the start of a model for why autistic burnout might happen. We know that people have been able to recover from autistic burnout and have some insights into how.What are the potential weaknesses in the study?: This was a small exploratory study with a convenience sample. Although we were able to bring in some diversity by using three data sources, future work would benefit from interviewing a wider range of participants, especially those who are not white, have higher support needs, and have either very high or very low educational attainment. More research is needed to understand how to measure, prevent, and treat autistic burnout.How will these findings help autistic adults now or in the future?: These findings validate the experience of autistic adults. Understanding autistic burnout could lead to ways to help relieve it or prevent it. The findings may help therapists and other practitioners recognize autistic burnout, and the potential dangers of teaching autistic people to mask autistic traits. Suicide prevention programs should consider the potential role of burnout. These findings highlight the need to reduce discrimination and stigma around autism and disability.
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43. Rodrigues R, Lai MC, Beswick A, Gorman DA, Anagnostou E, Szatmari P, Anderson KK, Ameis SH. {{Practitioner Review: Pharmacological treatment of attention-deficit/hyperactivity disorder symptoms in children and youth with autism spectrum disorder: a systematic review and meta-analysis}}. {J Child Psychol Psychiatry};2020 (Aug 26)
BACKGROUND: Clinically significant attention-deficit/hyperactivity disorder (ADHD) symptoms are common and impairing in children and youth with autism spectrum disorder(ASD). The aim of this systematic review and meta-analysis was to (a) evaluate the efficacy and safety of pharmacotherapy for the treatment of ADHD symptoms in ASD and (b) distil findings for clinical translation. METHODS: We searched electronic databases and clinical trial registries (1992 onwards). We selected randomized controlled trials conducted in participants <25 years of age, diagnosed with ASD that evaluated ADHD outcomes (hyperactivity/impulsivity and inattention) following treatment with stimulants (methylphenidate or amphetamines), atomoxetine, alpha-2 adrenergic receptor agonists, antipsychotics, tricyclic antidepressants, bupropion, modafinil, venlafaxine, or a combination, in comparison with placebo, any of the listed medications, or behavioral therapies. Data were pooled using a random-effects model. RESULTS: Twenty-five studies (4 methylphenidate, 4 atomoxetine, 1 guanfacine, 14 antipsychotic, 1 venlafaxine, and 1 tianeptine) were included. Methylphenidate reduced hyperactivity (parent-rated: standardized mean difference [SMD] = -.63, 95%CI = -.95,-.30; teacher-rated: SMD = -.81, 95%CI = -1.43,-.19) and inattention (parent-rated: SMD = -.36, 95%CI = -.64,-.07; teacher-rated: SMD = -.30, 95%CI = -.49,-.11). Atomoxetine reduced inattention (parent-rated: SMD = -.54, 95%CI = -.98,-.09; teacher/investigator-rated: SMD = -0.38, 95%CI = -0.75, -0.01) and parent-rated hyperactivity (parent-rated: SMD = -.49, 95%CI = -.76,-.23; teacher-rated: SMD = -.43, 95%CI = -.92, .06). Indirect evidence for significant reductions in hyperactivity with second-generation antipsychotics was also found. Quality of evidence for all interventions was low/very low. Methylphenidate was associated with a nonsignificant elevated risk of dropout due to adverse events. CONCLUSIONS: Direct pooled evidence supports the efficacy and tolerability of methylphenidate or atomoxetine for treatment of ADHD symptoms in children and youth with ASD. The current review highlights the efficacy of standard ADHD pharmacotherapy for treatment of ADHD symptoms in children and youth with ASD. Consideration of the benefits weighed against the limitations of safety/efficacy data and lack of data evaluating long-term continuation is undertaken to help guide clinical decision-making regarding treatment of co-occurring ADHD symptoms in children and youth with ASD. Lien vers le texte intégral (Open Access ou abonnement)
44. Rogers SJ, Yoder P, Estes A, Warren Z, McEachin J, Munson J, Rocha M, Greenson J, Wallace L, Gardner E, Dawson G, Sugar CA, Hellemann G, Whelan F. {{A Multisite Randomized Controlled Trial Comparing the Effects of Intervention Intensity and Intervention Style on Outcomes for Young Children With Autism}}. {J Am Acad Child Adolesc Psychiatry};2020 (Aug 24)
OBJECTIVE: This randomized, multisite, intent-to-treat study tested the effects of two levels of treatment intensity (number of hours) and two treatment styles on progress of young children with autism spectrum disorder (ASD). We predicted that initial severity of developmental delay or autism symptoms would moderate the effects of intensity and style on progress in four domains: autism symptom severity, expressive communication, receptive language, and nonverbal ability. METHOD: Eighty-seven children with ASD, mean age 23.4 months, were assigned to one of two intervention styles (naturalistic developmental-behavioral or discrete trial teaching), each delivered for either 15 or 25 hours per week of 1:1 intervention for 12 months by trained research staff. All caregivers received coaching twice monthly. Children were assessed at four timepoints. Examiners and coders were naive to treatment assignment. RESULTS: Neither style nor intensity had main effects on the four outcome variables. In terms of moderating effects of initial severity of developmental delay and of autism symptom severity, neither moderated the effects of treatment style on progress in any of the four domains. In terms of treatment intensity, initial severity moderated effect of treatment intensity on only one domain – change in autism symptom severity, and in a secondary analysis, this effect was found in only one site. CONCLUSION: Neither treatment style or intensity had overall effects on child outcomes in the four domains examined. Initial severity did not predict better response to one intervention style than another. We found very limited evidence that initial severity predicted better response to 25 versus 15 hours per week of intervention in the domains studied.
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45. Siafis S, Çıray O, Schneider-Thoma J, Bighelli I, Krause M, Rodolico A, Ceraso A, Deste G, Huhn M, Fraguas D, Mavridis D, Charman T, Murphy DG, Parellada M, Arango C, Leucht S. {{Placebo response in pharmacological and dietary supplement trials of autism spectrum disorder (ASD): systematic review and meta-regression analysis}}. {Mol Autism};2020 (Aug 26);11(1):66.
BACKGROUND: Placebo response in autism spectrum disorder (ASD) might dilute drug-placebo differences and hinder drug development. Therefore, this meta-analysis investigated placebo response in core symptoms. METHODS: We searched ClinicalTrials.gov , CENTRAL, EMBASE, MEDLINE, PsycINFO, WHO-ICTRP (up to July 8, 2018), and PubMed (up to July 4, 2019) for randomized pharmacological and dietary supplement placebo-controlled trials (RCTs) with a minimum of seven days of treatment. Single-group meta-analyses were conducted using a random-effects model. Standardized mean changes (SMC) of core symptoms in placebo arms were the primary outcomes and placebo positive response rates were a secondary outcome. Predictors of placebo response were investigated with meta-regression analyses. The protocol was registered with PROSPERO ID CRD42019125317 . RESULTS: Eighty-six RCTs with 2360 participants on placebo were included in our analysis (87% in children/adolescents). The majority of trials were small, single-center with a duration of 8-12 weeks and published after 2009. Placebo response in social-communication difficulties was SMC = - 0.32, 95% CI [- 0.39, - 0.25], in repetitive behaviors - 0.23[- 0.32, - 0.15] and in scales measuring overall core symptoms - 0.36 [- 0.46, - 0.26]. Overall, 19%, 95% CI [16-22%] of participants were at least much improved with placebo. Caregiver (vs. clinician) ratings, lower risk of bias, flexible-dosing, larger sample sizes and number of sites, less recent publication year, baseline levels of irritability, and the use of a threshold of core symptoms at inclusion were associated with larger placebo response in at least a core symptom domain. LIMITATIONS: About 40% of the trials had an apparent focus on core symptoms. Investigation of the differential impact of predictors on placebo and drug response was impeded by the use of diverse experimental interventions with essentially different mechanisms of action. An individual-participant-data meta-analysis could allow for a more fine-grained analysis and provide more informative answers. CONCLUSIONS: Placebo response in ASD was substantial and predicted by design- and participant-related factors, which could inform the design of future trials in order to improve the detection of efficacy in core symptoms. Potential solutions could be the minimization and careful selection of study sites as well as rigorous participant enrollment and the use of measurements of change not solely dependent on caregivers.
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46. Sparapani N, Solari E, Towers L, McIntyre N, Henry A, Zajic M. {{Secondary Analysis of Reading-Based Activities Utilizing a Scripted Language Approach: Evaluating Interactions Between Students With Autism and Their Interventionists}}. {J Speech Lang Hear Res};2020 (Aug 28):1-23.
Students with autism spectrum disorder (ASD) often exhibit challenges with reading development. Evidence-based interventions and specialized approaches to reading instruction are currently being implemented across educational contexts for learners with ASD (Machalicek et al., 2008), yet there is limited understanding of how core ASD features may impact effective delivery of instruction and student participation. We begin to address this need by evaluating the reciprocity between instructional talk and student participation within a reading intervention utilizing a scripted language approach that was being piloted on students with ASD. Method This study used archival video-recorded observations from the beginning of a reading intervention to examine the interactions between 20 students (18 boys, two girls) with ASD (7-11 years old, M = 9.10, SD = 1.74) and their interventionists (n = 7). Lag sequential analysis was used to examine the frequency of student initiations and responses following the interventionists’ use of responsive, open-ended, closed-ended, and directive language. Results Findings describe the types of and illustrate the variability in interactions between students and their interventionists, as well as highlight language categories that are linked to student participation. Conclusions These data provide a snapshot of the nature and quality of interactions between students with ASD and their interventionists. Findings suggest that delivery of instruction, including the language that interventionists use, may be an important area of focus when evaluating the effectiveness of reading-based practices across educational settings for learners with ASD, even within the confines of highly structured interventions.
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47. Specchio N, Pietrafusa N, Trivisano M, Moavero R, De Palma L, Ferretti A, Vigevano F, Curatolo P. {{Autism and Epilepsy in Patients With Tuberous Sclerosis Complex}}. {Front Neurol};2020;11:639.
Introduction: Individuals with Tuberous Sclerosis Complex (TSC) are at increased risk of developing both epilepsy and autism spectrum disorder (ASD), but the relationship between these conditions is little understood. We reviewed published reports to elucidate the relationship between ASD, epilepsy, and TSC, and to define the genetic and neurological risk factors. Methods: Articles (January 2004-May 2019) were identified via PubMed, EMBASE, and CENTRAL databases. Article inclusion required report on individuals with TSC-associated ASD and epilepsy with prevalence, odds ratio, or rate report on the comorbidity of ASD in epileptic patients due to TSC. Results: A total of 841 abstracts were identified in the original search. Thirty-six articles were included, which identified study populations, ASD measures used, and study confounders as bias factors. This review included 2,666 TSC patients, with a mean age of 15.9 years (range 1.94-30.3 years). The percentage of TSC patients with epilepsy and autism was 33.7%. Patients with TSC and autism showed more frequent seizures and earlier epilepsy onset than TSC patients without autism. ASD and intractable epilepsy were both predicted by a higher number of areas with dysplastic features revealed in brain MR scans. ASD, the onset of seizures in children <2 years of age, and >3 tubers have all been associated with an increased risk of refractory epilepsy in TSC patients. However, the direction of the relationship is not clear because a history of epilepsy, or infantile spasms in patients with TSC is also associated with an increased likelihood of ASD. Overall, 73.2% of patients carried TSC2 genetic variant and, among patients with TSC and autism, the percentage of TSC2 individuals was 85.6%. Conclusions: The complex interrelationship between TSC, autism, and epilepsy, coupled with limited knowledge on the neurobiological basis for the interrelationship, limits overall understanding and opportunities for management. The results of this review highlight the need for early identification and management to optimize favorable outcomes in the most vulnerable individuals with TSC. Regardless of whether studies are considered individually or collectively, interpretation is made difficult due to the differences between the studies, most notably between methods and diagnostic criteria used to assess intellectual ability.
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48. Uono S, Yoshimura S, Toichi M. {{Eye contact perception in high-functioning adults with autism spectrum disorder}}. {Autism};2020 (Aug 27):1362361320949721.
The detection of a self-directed gaze is often the starting point for social interactions and a person who feels as if they are being watched can prepare to respond to others’ actions irrespective of the real gaze direction because the other person may likely be motivated to approach. Although many studies demonstrated that individuals with autism spectrum disorder have difficulty discriminating gaze direction, it remains unclear how the perception of self-directed gaze by individuals with autism spectrum disorder differs from that of age-, sex-, and IQ-matched typically developing individuals. Participants observed faces with various gaze directions and answered whether the person in the photograph was looking at them or not. Individuals with and without autism spectrum disorder were just as likely to perceive subtle averted gazes as self-directed gazes. The frequency of perceiving a self-directed gaze decreased as gaze aversion increased in both groups and, in general, individuals with autism spectrum disorder showed a comparable ability to perceive a self-directed gaze as that of typically developing individuals. Interestingly, considering face membership of photographs (ingroup or outgroup faces), typically developing individuals, but not individuals with autism spectrum disorder, were more likely to perceive self-directed gazes from ingroup faces than from outgroup faces. However, individuals with autism spectrum disorder had different affective experiences in response to ingroup and outgroup faces. These results suggest that individuals with autism spectrum disorder did not show an ingroup bias for the perception of a self-directed gaze, and raise a possibility that an atypical emotional experience contributes to the diminished ingroup bias.
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49. van der Linden K, Simons C, van Amelsvoort T, Marcelis M. {{Lifetime and Momentary Psychotic Experiences in Adult Males and Females With an Autism Spectrum Disorder}}. {Front Psychiatry};2020;11:766.
BACKGROUND: Existing research shows that adults with an autism spectrum disorder (ASD) are more vulnerable to develop overt psychosis. However, studies investigating (subclinical) psychotic experiences (PE) in ASD are scarce, and it is unknown if PE are accompanied with more distress in adults with ASD compared to the general population. This study examined lifetime PE and accompanying distress, momentary PE levels, and the impact of daily life stress and negative affect (NA) on momentary PE in males and females with ASD compared to controls. METHODS: In 50 adults with ASD (males N= 26, females N= 24) and 51 adults without ASD (males N= 26, females N= 25), the Community Assessment of Psychic Experiences (CAPE) was used to analyze group differences in frequency and distress of lifetime subclinical positive, negative, and depressive symptoms. The Experience Sampling Method (ESM) was used to measure momentary PE, NA, and stress (activity-related, event-related, and social stress) for 10 days. Multilevel analyses were conducted to test whether stress and NA were associated with momentary PE and whether these associations were modified by group or sex. RESULTS: Adults with ASD reported more lifetime CAPE negative and depressive symptoms, but similar levels of PE, than controls. Higher levels of accompanying distress were found in participants with ASD for each subscale. With respect to ESM momentary PE, higher levels were reported by adults with ASD and a stronger association between event-related stress and momentary PE was found compared to controls. This was not the case for NA, activity-related, and social stress. Overall, no significant differences between male and female outcomes were found. CONCLUSION: Adults with ASD are more prone to encounter lifetime subclinical negative and depressive symptoms and accompanying distress compared to adults without ASD. Similar levels of lifetime PE in both groups were still accompanied with more distress in the ASD group. Furthermore, higher levels of ESM momentary PE were found in participants with ASD. Additionally, event-related stress may act as a risk factor for PE in both females and males with ASD, with a stronger risk-increasing effect than in their control counterparts.
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50. van Leeuwen TM, Neufeld J, Hughes J, Ward J. {{Synaesthesia and autism: Different developmental outcomes from overlapping mechanisms?}}. {Cogn Neuropsychol};2020 (Aug 26):1-17.
Synaesthesia, a mixing of the senses, is more common in individuals with autism. Here, we review the evidence for the association between synaesthesia and autism with regard to their genetic background, brain connectivity, perception, cognitive mechanisms and their contribution to exceptional talents. Currently, the overlap between synaesthesia and autism is established most convincingly at the level of alterations in sensory sensitivity and perception, with synaesthetes showing autism-like profiles of sensory sensitivity and a bias towards details in perception. Shared features may include a predominance of local over global connectivity in the brain. When autism and synaesthesia co-occur in the same individual, the chance of developing heightened cognitive and memory abilities is increased. We discuss how the same theoretical models could potentially explain both conditions. Given the evidence, we believe the phenotypical overlap between autism and synaesthesia has been established clearly enough to invite future research to confirm overlapping mechanisms.
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51. Velasquez F, Wiggins JL, Mattson WI, Martin DM, Lord C, Monk CS. {{Erratum to « The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder » [Dev. Cognit. Neurosci. 24 April (2017) 12-20]}}. {Dev Cogn Neurosci};2020 (Aug 28):100844.
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52. Xu C, Yao M, Kang M, Duan G. {{Improving Physical Fitness of Children with Intellectual and Developmental Disabilities through an Adapted Rhythmic Gymnastics Program in China}}. {Biomed Res Int};2020;2020:2345607.
BACKGROUND: Health-related physical fitness is vital for children with intellectual and developmental disabilities (IDD) to gain healthier lives. The adapted rhythmic gymnastics (ARG) program was designed for children with IDD and is aimed at testing the effects of the exercise program on children’s physical fitness. METHODS: Participants were recruited from two special needs schools in Beijing of China. Twenty-two children with IDD were assigned to an ARG experimental group or a traditional control group. The experimental group took part in a 16-week ARG program consisting of three 50 min sessions each week. And children’s body composition, aerobic capacity, and musculoskeletal functioning were measured by the Brockport Physical Fitness Test (BPFT) before and after the program. RESULTS: The between-group analysis revealed great improvements for the experimental group in abdominal strength (curl-up test: p = 0.025 < 0.05) and upper limb strength (dumbbell press test: p = 0.038 < 0.05). Compared to the pretest, most of the physical fitness parameters improved significantly in the experimental group except BMI, and flexibility of the experimental group children showed a substantial increase. CONCLUSIONS: Most of the physical fitness parameters of children with IDD in the experimental group improved significantly, especially on abdominal strength and upper limb muscle strength when comparing to the control group. Lien vers le texte intégral (Open Access ou abonnement)
53. Zinck A, Frith U, Schönknecht P, White S. {{Knowing me, knowing you: Spontaneous use of mentalistic language for self and other in autism}}. {Autism};2020 (Aug 27):1362361320951017.
Autistic people can have difficulties in understanding non-autistic people’s mental states such as beliefs, emotions and intentions. Although autistic adults may learn to overcome difficulties in understanding of explicit (overt) mental states, they may nevertheless struggle with implicit (indirect) understanding of mental states. This study explores how spontaneous language is used in order to specifically point to this implicit (indirect) understanding of mental states. In particular, our study compares the spontaneous statements that were used in descriptions of oneself and a familiar other person. Here, we found that autistic and non-autistic adults were comparable in the number of statements about physical traits they made. In contrast, non-autistic adults made more statements about mentalistic traits (about the mental including psychological traits, relationship traits and statements reflecting about these) both for the self and the other. Non-autistic and autistic adults showed no difference in the number of statements about relationships but in the number of statements about psychological traits and especially in the statements reflecting on these. Each group showed a similar pattern of kinds of statements for the self and for the other person. This suggests that autistic individuals show the same unique pattern of description in mentalistic terms for the self and another person. This study also indicates that investigating spontaneous use of language, especially for statements reflecting about mental states, enables us to look into difficulties with implicit (indirect) understanding of mental states.
