1. Baldimtsi E, Nicolopoulou A, Tsimpli IM. {{Cognitive and Affective Aspects of Theory of Mind in Greek-Speaking Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2020.
Substantial research indicates that individuals with Autism Spectrum Disorder (ASD) have difficulties with Theory of Mind (ToM) abilities, but rarely have studies used a comprehensive battery to measure both the cognitive and affective aspects of ToM. The present study tested this ability in 24 Greek-speaking children with ASD (ages 7-14), and their performance was compared to 24 age-, gender- and language-matched typically developing controls. Results showed that ASD children’s performance was selectively impaired in both ToM aspects, supporting the distinction between ToM components. This is the first study of ToM abilities among Greek-speaking children with ASD, and the findings confirm that children with ASD are experiencing difficulties with socio-emotional understanding across languages and cultures.
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2. Bertrams A, Schlegel K. {{Speeded reasoning moderates the inverse relationship between autistic traits and emotion recognition}}. {Autism}. 2020: 1362361320937090.
Autistic people typically have difficulty recognizing other people’s emotions and to process nonverbal cues in an automatic, intuitive fashion. This usually also applies to people who-regardless of an official diagnosis of autism-achieve high values in autism questionnaires. However, some autistic people do not seem to have any problems with emotion recognition. One explanation may be that these individuals are able to compensate for their lack of intuitive or automatic processing through a quick conscious and deliberate analysis of the emotional cues in faces, voices, and body movements. On these grounds, we assumed that the higher autistic people’s ability to reason quickly (i.e. to make quick logical inferences), the fewer problems they should have with determining other people’s emotions. In our study, we asked workers on the crowdsourcing marketplace MTurk to complete a questionnaire about their autistic traits, to perform emotion recognition tests, and to complete a test of the ability to reason under time constraints. In our sample of 217 people, we found the expected pattern. Overall, those who had higher values in the autism questionnaire scored lower in the emotion recognition tests. However, when reasoning ability was taken into account, a more nuanced picture emerged: participants with high values both on the autism questionnaire and on the reasoning test recognized emotions as well as individuals with low autistic traits. Our results suggest that fast analytic information processing may help autistic people to compensate problems in recognizing others’ emotions.
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3. Bohadana G, Morrissey S, Paynter J. {{Self-Compassion in Mothers of Children with Autism Spectrum Disorder: A Qualitative Analysis}}. {J Autism Dev Disord}. 2020.
Emerging quantitative research found self-compassion to be a unique predictor of parental stress in parents of children with ASD above other predictors. However, research on the lived experience of self-compassion in families of children with ASD is limited. Using a qualitative thematic analysis approach, 19 mothers of children with ASD with a mean age of 39.19 years (SD = 3.56, Range = 31.00-50.00 years) were interviewed about their lived experiences of stress and self-compassion. Themes derived from interviews include: the impact and causes of stress, benefits of self-compassion, barriers to self-compassion, and aids to self-compassion. The findings deepen our understanding of the experience of self-compassion in this population. Limitations and future directions are discussed.
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4. Caria A, Ciringione L, Falco S. {{Morphofunctional Alterations of the Hypothalamus and Social Behavior in Autism Spectrum Disorders}}. {Brain Sci}. 2020; 10(7).
An accumulating body of evidence indicates a tight relationship between the endocrine system and abnormal social behavior. Two evolutionarily conserved hypothalamic peptides, oxytocin and arginine-vasopressin, because of their extensively documented function in supporting and regulating affiliative and socio-emotional responses, have attracted great interest for their critical implications for autism spectrum disorders (ASD). A large number of controlled trials demonstrated that exogenous oxytocin or arginine-vasopressin administration can mitigate social behavior impairment in ASD. Furthermore, there exists long-standing evidence of severe socioemotional dysfunctions after hypothalamic lesions in animals and humans. However, despite the major role of the hypothalamus for the synthesis and release of oxytocin and vasopressin, and the evident hypothalamic implication in affiliative behavior in animals and humans, a rather small number of neuroimaging studies showed an association between this region and socioemotional responses in ASD. This review aims to provide a critical synthesis of evidences linking alterations of the hypothalamus with impaired social cognition and behavior in ASD by integrating results of both anatomical and functional studies in individuals with ASD as well as in healthy carriers of oxytocin receptor (OXTR) genetic risk variant for ASD. Current findings, although limited, indicate that morphofunctional anomalies are implicated in the pathophysiology of ASD and call for further investigations aiming to elucidate anatomical and functional properties of hypothalamic nuclei underlying atypical socioemotional behavior in ASD.
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5. Engel KS, Ehri LC. {{Reading Comprehension Instruction for Young Students with Autism: Forming Contextual Connections}}. {J Autism Dev Disord}. 2020.
Central coherence is the ability to perceive and connect salient information in a context such as a narrative text. Individuals with autism exhibit a detail-focused cognitive style of processing information that overlooks connections and shows weak central coherence. A six-session instructional intervention to foster coherence processing was administered to first and second graders (N = 10) while a control group (N = 10) received an irrelevant treatment, mean age 7.06 years, 18 males and 2 females. Results showed that the instruction benefited children’s comprehension of narrative text. The intervention improved children’s ability to retell a narrative text and improved first graders’ use of sequence words to retell a story compared to control students. Findings carry implications for designing reading instruction for this special population.
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6. Greene RK, Parish-Morris J, Sullivan M, Kinard JL, Mosner MG, Turner-Brown LM, Penn DL, Wiesen CA, Pallathra AA, Brodkin ES, Schultz RT, Dichter GS. {{Dynamic Eye Tracking as a Predictor and Outcome Measure of Social Skills Intervention in Adolescents and Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
To evaluate an eye tracking task as a predictor and outcome measure of treatment response for autism spectrum disorder (ASD) social skills interventions, adolescents and young adults with ASD completed the eye tracking task before, immediately after, and two months after completing Social Cognition and Interaction Training for Autism (SCIT-A). The study compared SCIT-A participants (n = 20) to participants with ASD who received treatment as usual (TAU; n = 21). Overall, increased visual attention to faces and background objects and decreased attention to hands playing with toys at baseline were associated with improved social functioning immediately following intervention, suggesting this eye tracking task may reliably predict ASD social intervention outcomes.
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7. Hendel Y, Meiri G, Flusser H, Michaelovski A, Dinstein I, Menashe I. {{Factors Affecting Family Compliance with Genetic Testing of Children Diagnosed with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
There is broad consensus about the importance of post-diagnostic genetic testing for children with ASD. However, the extent of compliance with these tests and the factors affecting compliance have rarely been examined. We surveyed a sample of 114 families with a child with ASD in Israel, where such genetic testing is funded by the government. We found that only one-third of these families completed post-diagnosis genetic testing for their child. The main factor influencing compliance was the doctor’s recommendation (OR 11.6; 95% CI 3.2-42.4; p < 0.001). Furthermore, > 50% of the non-compliant families reported that genetic testing was irrelevant to them. Our findings highlight the importance of providing clear recommendations and explanations regarding the benefits and relevance of post-diagnosis genetic testing for children with ASD.
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8. Mazza M, Pino MC, Vagnetti R, Peretti S, Valenti M, Marchetti A, Di Dio C. {{Discrepancies between explicit and implicit evaluation of aesthetic perception ability in individuals with autism: a potential way to improve social functioning}}. {BMC psychology}. 2020; 8(1): 74.
BACKGROUND: The capacity to evaluate beauty plays a crucial role in social behaviour and social relationships. It is known that some characteristics of beauty are important social cues that can induce stereotypes or promote different behavioural expectations. Another crucial capacity for success in social interactions is empathy, i.e. the ability to understand and share others’ mental and emotional states. Individuals with Autism Spectrum Disorder (ASD) have an impairment of empathic ability. We showed in a previous study that empathy and aesthetic perception abilities closely related. Indeed, beauty can affect different aspects of empathic behaviour, and empathy can mediate the aesthetic perception in typically developing (TD) individuals. Thus, this study evaluates the ability of aesthetic perception in ASD individuals compared to TD individuals, using the Golden Beauty behavioural task adapted for eye-tracking in order to acquire both explicit and implicit evidences. In both groups, the relationship between empathic and aesthetic perception abilities was also evaluated. METHODS: Ten ASD individuals (age ± SD:20.7 ± 4.64) and ten TD individuals (age ± SD:20.17 ± 0.98) participated in the study. Participants underwent empathy tasks and then the Golden Beauty task. To assess differences in the participants’ performance, we carried out a repeated measures general linear model. RESULTS: At the explicit level, our behavioural results show an impairment in aesthetic perception ability in ASD individuals. This inability could have relevance for their ability to experience pleasure during social interactions. However, at the implicit level (eye-tracking results), ASD individuals conserved a good ability to feel aesthetic pleasure during the Golden Beauty task, thus indicating a discrepancy between the explicit and implicit evaluation of the beauty task. Finally, beauty perception appears to be linked to empathy when neither of these capacities is compromised, as demonstrated in the TD group. In contrast, this link is missed in ASD individuals. CONCLUSION: Overall, our results clearly show that individuals with autism are not completely blind to aesthetic pleasure: in fact, they retain an implicit ability to experience beauty. These findings could pave the way for the development of new protocols to rehabilitate ASD social functioning, exploiting their conserved implicit aesthetic perception.
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9. Narzisi A, Bondioli M, Pardossi F, Billeci L, Buzzi MC, Buzzi M, Pinzino M, Senette C, Semucci V, Tonacci A, Uscidda F, Vagelli B, Giuca MR, Pelagatti S. {{« Mom Let’s Go to the Dentist! » Preliminary Feasibility of a Tailored Dental Intervention for Children with Autism Spectrum Disorder in the Italian Public Health Service}}. {Brain Sci}. 2020; 10(7).
Children with autism spectrum disorder (ASD) show worse oral health than their peers. Their access to health services is, at present, inadequate: few high-quality interventions have been designed and implemented to improve their care procedures so far. The purpose of this study is to describe an experience of dental care supported by Information and Communication Technologies (ICT), for children with ASD in a public health service. In our study, 59 children (mean age 9.9 years; SD = 5.43) participated in the MyDentist project. It integrates classic dental care techniques with new practices for desensitization and fear control, delivered through an enhanced customized ICT-based intervention aiming at familiarizing the child with ASD with the medical setting and procedures. Two questionnaires were filled out by parents to describe the acceptability of the MyDentist experience for their children. Significant results were shown from T0 (before initiating MyDentist) to T1 (after 6 months of the MyDentist experience) regarding improved oral hygiene and cooperation during dental treatments. Families positively assessed the use of ICT support. In conclusion, the project demonstrated acceptability by parents, suggesting that public health dental care and prevention can be successfully implemented without resorting to costly pharmacological interventions (with potential side effects), taking better care of children’s health.
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10. Piras IS, Picinelli C, Iennaco R, Baccarin M, Castronovo P, Tomaiuolo P, Cucinotta F, Ricciardello A, Turriziani L, Nanetti L, Mariotti C, Gellera C, Lintas C, Sacco R, Zuccato C, Cattaneo E, Persico AM. {{Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study}}. {Am J Med Genet B Neuropsychiatr Genet}. 2020.
The Huntingtin (HTT) gene contains a CAG repeat in exon 1, whose expansion beyond 39 repeats consistently leads to Huntington’s disease (HD), whereas normal-to-intermediate alleles seemingly modulate brain structure, function and behavior. The role of the CAG repeat in Autism Spectrum Disorder (ASD) was investigated applying both family-based and case-control association designs, with the SCA3 repeat as a negative control. Significant overtransmission of « long » CAG alleles (≥17 repeats) to autistic children and of « short » alleles (≤16 repeats) to their unaffected siblings (all p < 10(-5) ) was observed in 612 ASD families (548 simplex and 64 multiplex). Surprisingly, both 193 population controls and 1,188 neurological non-HD controls have significantly lower frequencies of "short" CAG alleles compared to 185 unaffected siblings and higher rates of "long" alleles compared to 548 ASD patients from the same families (p < .05-.001). The SCA3 CAG repeat displays no association. "Short" HTT alleles seemingly exert a protective effect from clinically overt autism in families carrying a genetic predisposition for ASD, while "long" alleles may enhance autism risk. Differential penetrance of autism-inducing genetic/epigenetic variants may imply atypical developmental trajectories linked to HTT functions, including excitation/inhibition imbalance, cortical neurogenesis and apoptosis, neuronal migration, synapse formation, connectivity and homeostasis. Lien vers le texte intégral (Open Access ou abonnement)
11. Thomaidis L, Mavroeidi N, Richardson C, Choleva A, Damianos G, Bolias K, Tsolia M. {{Autism Spectrum Disorders in Greece: Nationwide Prevalence in 10-11 Year-Old Children and Regional Disparities}}. {J Clin Med}. 2020; 9(7).
Autism spectrum disorders (ASD) constitute a public health concern with increasing prevalence worldwide. We aimed to estimate prevalence and age at diagnosis in Greece, where no large-scale prevalence study has ever been conducted. Aggregate data were collected on ASD diagnoses by gender and calendar year of diagnosis up to 2019, for children born in 2008 and 2009, from the Centers for Educational and Counseling Support, which evaluate children to receive special educational support in school. Coverage was 87.1% of centers and 88.1% of schoolchildren born in 2008-9. ASD prevalence overall was 1.15% (1.83% males, 0.44% females; ratio 4.14:1), ranging from 0.59% to 1.50% in Greece’s 13 regions. In five regions, prevalence differed significantly between centers. Overall, only 3.8% of diagnoses were made before the fourth year after birth and 42.7% before the sixth year, with considerable variation between regions. Approximate mean age at diagnosis was six years and one month, and about three months earlier for girls than for boys. Our results provide evidence-based information to guide service planning and development at national and regional levels. Particular attention should be paid to smoothing out inequalities regarding service accessibility and provision. Emphasis should be given to earlier identification and diagnosis of ASD.
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12. Villani C, Sacchetti G, Carli M, Invernizzi RW. {{Fluoxetine rescues rotarod motor deficits in Mecp2 heterozygous mouse model of rett syndrome via brain serotonin}}. {Neuropharmacology}. 2020: 108221.
Motor skill is a specific area of disability of Rett syndrome (RTT), a rare disorder occurring almost exclusively in girls, caused by loss-of-function mutations of the X-linked methyl-CpG-binding protein2 (MECP2) gene, encoding the MECP2 protein, a member of the methyl-CpG-binding domain nuclear proteins family. Brain 5-HT, which is defective in RTT patients and Mecp2 mutant mice, regulates motor circuits and SSRIs enhance motor skill learning and plasticity. In the present study, we used heterozygous (Het) Mecp2 female and Mecp2-null male mice to investigate whether fluoxetine, a SSRI with pleiotropic effects on neuronal circuits, rescues motor coordination deficits. Repeated administration of 10 mg/kg fluoxetine fully rescued rotarod deficit in Mecp2 Het mice regardless of age, route of administration or pre-training to rotarod. The motor improvement was confirmed in the beam walking test while no effect was observed in the hanging-wire test, suggesting a preferential action of fluoxetine on motor coordination. Citalopram mimicked the effects of fluoxetine, while the inhibition of 5-HT synthesis abolished the fluoxetine-induced improvement of motor coordination. Mecp2 null mice, which responded poorly to fluoxetine in the rotarod, showed reduced 5-HT synthesis in the prefrontal cortex, hippocampus and striatum, and reduced efficacy of fluoxetine in raising extracellular 5-HT as compared to female mutants. No sex differences were observed in the ability of fluoxetine to desensitize 5-HT(1A) autoreceptors upon repeated administration. These findings indicate that fluoxetine rescues motor coordination in Mecp2 Het mice through its ability to enhance brain 5-HT and suggest that drugs enhancing 5-HT neurotransmission may have beneficial effects on motor symptoms of RTT.
