Pubmed du 30/08/20

dimanche 30 août 2020

1. Abraham DA, Rajanandh MG. Does metabolic syndrome during pregnancy really a risk to autism spectrum disorder ?. Diabetes Metab Syndr ;2020 (Aug 15) ;14(6):1591-1592.

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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. Błażewicz A, Szymańska I, Astel A, Stenzel-Bembenek A, Dolliver WR, Makarewicz A. Assessment of Changes over Time of Lipid Profile, C-Reactive Protein Level and Body Mass Index in Teenagers and Young Adults on Different Diets Belonging to Autism Spectrum Disorder. Nutrients ;2020 (Aug 26) ;12(9)

BACKGROUND : Numerous scientific studies on patients with autism spectrum disorder (ASD) suggest a significant role of inflammation processes or lipid disorders in this spectrum of neurodevelopmental disorders. Unfortunately, there is a lack of assessments of changes over time regarding level of lipids and inflammatory markers in people diagnosed with ASD using different diets. The aim of this study was to evaluate changes in lipid profile, high sensitivity C-reactive protein (hs-CRP) and body mass index (BMI) in individuals diagnosed with ASD and healthy controls. Variables were assessed at two time points (2015/17 and 2017/20) for each subject. METHODS : After applying the selection criteria, for the first assessment period, 96 participants were qualified (the group consisted of 59 males with ASD and 37 healthy volunteers, i.e., age-matched control group-CG). The final assessment included 93 participants (57 from ASD group and 36 from CG). Subjects were on low-fat diet (LFD), gluten-casein-free diet (GF-CF) and regular diet (RD), respectively. All members of CG were on regular diet. A fasting lipid profile and hs-CRP level were analyzed. BMI and percentiles were calculated. Eating habits were checked by analyzing data from questionnaires. Principal component analysis (PCA) was used separately for every assessment. The Mann-Whitney U test was used to compare the medians of variables in the scheme of pairwise comparisons between control and ASD groups on different diets for separate assessment, while differences over time between variables were tested by Wilcoxon signed-rank test. RESULTS : Statistically significant differences between BMI, CRP, triglycerides (TG), total cholesterol (TC), high-density lipoprotein (HDL), non-HDL-C and TC/HDL ratio were found in ASD group in comparison to healthy volunteers (increased BMI, CRP and TC/HDL and decreased HDL-C for all types of diets, increased TG in the group of LFD and RD individual and increased non-HDL-C in the group of GF-CF and RD individuals) during the first assessment period. The second assessment over time also showed increased levels of TC, non HDL-C and TC/HDL and decreased level of HDL-C for all ASD individuals regardless of diets used, while BMI and CRP increased only for individuals on LFD and RD. No statistically significant correlations between age of participants and other variables comparing with CG were found. CONCLUSIONS : Our studies suggest that targeted, individualized nutritional pattern and periodic screening for lipid and immune disorders would be beneficial for teenagers and adults diagnosed with ASD.

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4. Braithwaite EK, Gui A, Jones EJH. Social attention : What is it, how can we measure it, and what can it tell us about autism and ADHD ?. Prog Brain Res ;2020 ;254:271-303.

Neurodevelopmental disorders like autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) affect 2-10% of children worldwide but are still poorly understood. Prospective studies of infants with an elevated familial likelihood of ASD or ADHD can provide insight into early mechanisms that canalize development down a typical or atypical course. Such work holds potential for earlier identification and intervention to support optimal outcomes in individuals with neurodevelopmental disorders. Disrupted attention may be involved in developmental trajectories to ASD and ADHD. Specifically, altered attention to social stimuli has been suggested as a possible endophenotype of ASD, lying between genetic factors impacting brain development and later symptoms. Similarly, changes in domain-general aspects of attention are commonly seen in ADHD and emerging evidence suggests these may begin in infancy. Could these patterns point to a common risk factor for both disorders ? Or does social attention reflect the activity of a particular network of brain systems that is distinct to those underpinning general attention skills ? One challenge to addressing such questions is our lack of understanding of the relation between social and general attention. In this chapter we review evidence from infants with later ASD and ADHD that illuminates this question.

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5. Carion N, Briand A, Cuisset L, Pacot L, Afenjar A, Bienvenu T. Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation. Gene ;2020 (Aug 30) ;753:144793.

BACKGROUND : Fragile X syndrome (FXS) is a monogenic disorder and a common cause of intellectual disability (ID). Up to now, very few pathological variants other than the typical CGG-repeat expansion have been reported in the FMR1 gene. METHODS : A panel of 56 intellectual disability (ID) genes including the FMR1 gene was sequenced in a cohort of 300 patients with unexplained ID. To determine the effect of a new FMR1 variant, total RNA from peripheral blood cells was reverse transcribed, amplified by polymerase chain reaction and sequenced. RESULTS : We report a novel G to A point variant (c.801G > A) located at the last nucleotide of exon 8 in the FMR1 gene in one patient with ID. Direct sequencing of the RT-PCR products revealed that the transcript from the allele with G to A variant skips exon 8 entirely, resulting in a joining of exons 7 and 9. Skipping of exon 8 may result in an abnormal FMR1 protein (FMRP), which removes the highly conserved region that encoding the KH1 domain of FMRP. CONCLUSIONS : This report describes for the first time that a synonymous variant in the FMR1 gene is associated with an error in mRNA processing, leading preferentially to the production of an aberrant transcript without exon 8. This splice variant was associated with an unspecific clinical presentation, suggesting the need for more detailed investigation of silent variants in ID patients with a large spectrum of phenotypes.

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6. 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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7. Gaigg SB, Krug MK, Solomon M, Roestorf A, Derwent C, Anns S, Bowler DM, Rivera S, Nordahl CW, Jones EJH. Eye-Tracking Reveals Absent Repetition Learning Across the Autism Spectrum : Evidence From a Passive Viewing Task. Autism Res ;2020 (Aug 30)

In the domain of memory, autism is characterized by difficulties in explicitly remembering the specific order of stimuli, whereas implicit serial order memory appears to be preserved. This pattern is of considerable interest because serial order memory is known to play a critical role in children’s language development. Currently, however, few paradigms exist that can effectively probe serial order memory across heterogeneous groups of children, including those who are minimally verbal. We present two experiments, involving 39 adults (20 ASD ; 19 TD) and 130 children (86 ASD ; 44 TD), that address this issue using an eye-tracking paradigm, which simply required participants to "watch out for a bunny" that appeared in repeating sequences of screen locations. The adults in Experiment 1 all had normative IQs, whereas Experiment 2 included children with and without substantial language and intellectual difficulties. In both experiments gaze latencies and anticipatory fixations to the bunny indicated reliable repetition learning effects in the TD but not the ASD groups. Importantly, we were able to acquire reliable data from around half of the children with significant language impairments in Experiment 2, indicating that the paradigm can shed light on important learning processes in this underrepresented group. We discuss the implications of these findings for theories of memory in ASD as well as for the utility of eye-tracking technology to probe repetition learning effects in autism. LAY SUMMARY : Remembering the specific order of stimuli plays an important role in language development and is thought to be a source of difficulty for autistic individuals. Research in this area, however, rarely includes autistic participants who are minimally verbal. Here we develop an eye-tracking paradigm that demonstrates serial order learning difficulties across the autism spectrum. We discuss the implications of these findings for our understanding of the role of memory difficulties in the varied language profiles across the autism spectrum.

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8. 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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9. 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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10. Klinner J, Krüger M, Brunet T, Makowski C, Riedhammer KM, Mollweide A, Wagner M, Hoefele J. Congenital lymphedema as a rare and first symptom of tuberous sclerosis complex. Gene ;2020 (Aug 30) ;753:144815.

Lymphedema are characterized by interstitial edema leading to swelling of extremities. They can be divided into primary and secondary lymphedema. Developmental abnormalities of the lymphatic system are responsible for the primary form of lymphedema. The secondary form of lymphedema is caused by damage of the lymphatic system due to external factors. Lymphedema can rarely be observed in patients with tuberous sclerosis complex (TSC), which is a neurocutaneous syndrome caused by pathogenic variants in the genes TSC1 or TSC2. Patients with TSC usually present with neurological manifestations and the development of multiple benign tumors of ectodermal origin. Typical onset for several symptoms is during the first year of life and in some cases lesions can be detected prenatally. Epilepsy is one of the most common manifestations, affecting up to 90% of TSC patients, and is associated with developmental delay. Early pharmacotherapy improves long term patient outcome. Trio exome sequencing was performed in a 3 weeks old girl with congenital lymphedema of the right lower extremity. Using a filter for de novo variants, the heterozygous missense variant c.2524C>T, p.(Gln842Ter) in TSC1 (NM_000368.4) could be identified. After the first onset of infantile spams at age 7 months treatment with vigabatrin was started immediately. We propose to include TSC1 and TSC2 analysis in the diagnostic work-up of patients with (isolated) congenital lymphedema as early diagnosis facilitates consequent treatment strategies potentially improving the prognosis of TSC patients.

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11. Kwon CS, Schupper AJ, Fields MC, Marcuse LV, La Vega-Talbott M, Panov F, Ghatan S. Centromedian thalamic responsive neurostimulation for Lennox-Gastaut epilepsy and autism. Ann Clin Transl Neurol ;2020 (Aug 29)

The RNS System is not approved in patients under 18, although a critical need for novel treatment modalities in this vulnerable population persist. We present two pediatric patients with drug-resistant epilepsy secondary to Lennox-Gastaut Syndrome (LGS) and autism spectrum disorder (ASD) treated with the RNS System. Both patients have experienced 75-99% clinical seizure reductions in >1 year of follow-up. We illustrate that children with diffuse onset, multifocal epilepsy, including frontal and thalamic circuits thought to exist in the generation of LGS seizures, can be treated with responsive neurostimulation safely and effectively, targeting thalamic networks, and avoiding palliative disconnections and resections.

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12. Lefevre A, Richard N, Mottolese R, Leboyer M, Sirigu A. An Association Between Serotonin 1A Receptor, Gray Matter Volume, and Sociability in Healthy Subjects and in Autism Spectrum Disorder. Autism Res ;2020 (Aug 30)

Central serotonin is an important molecular pathway, involved in the regulation of social behavior and gray matter volume (GMV). In men with autism spectrum disorders (ASD), the serotonergic system and the GMV have been found disrupted. Here, we investigated the relation between serotonin, GMV, and social personality in men with typical development (TD) and in men with ASD. We combined anatomical magnetic resonance imaging, Positron emission tomography scan with 2’-methoxyphenyl-(N-2’-pyridinyl)-p-18F-fluoro-benzamidoethylpiperazine radioligand and revised NEO personality inventory personality questionnaire to examine the association between serotonin 1A receptor (5-HT(1A) R) binding potential, GMV and social personality in 24 adult male TD subjects and 18 male men with ASD. In both groups, we found a positive correlation between 5-HT(1A) R binding potential and GMV in a region dependent manner. In the TD group, we observed a negative correlation between 5-HT(1A) R and GMV in the left and right posterior putamen. 5HT(1A) R binding and GMV in the putamen further correlated with social personality scores in the TD group. None of these associations were found in men with ASD, although no differences were observed for 5-HT(1A) R concentration among the two groups. Our findings point to a deregulation of 5-HT(1A) R density in the striatum of men with ASD, a failure that might contribute to their social disturbances. Serotonin is suspected to be involved in the pathophysiology of autism. We provide evidence for a role of serotonin 1A receptor in social behavior through a specific regulation of GMV in the putamen region in neurotypical subjects but not in men with autism. This suggests a potential impairment of the serotonergic system in men with autism which may contribute to patients’ social disturbances. Our findings suggest further investigation on the role of serotonin 1A receptor and its activity in the striatum to regulate social behavior. LAY SUMMARY : Serotonin is suspected to be involved in the pathophysiology of autism. We provide evidence for a role of serotonin 1A receptor in social behavior through a specific regulation of gray matter volume in the putamen region in neurotypical subjects but not in men with autism. This suggests a potential impairment of the serotonergic system in men with autism which may contribute to patients’ social disturbances. Our findings suggest further investigation on the role of serotonin 1A receptor and its activity in the striatum to regulate social behavior.

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13. 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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14. Okai Y, Nakata T, Miura K, Ohno A, Wakako R, Takahashi O, Maki Y, Tanaka M, Sakaguchi Y, Ito Y, Yamamoto H, Kidokoro H, Takahashi Y, Natsume J. Shuffling babies and autism spectrum disorder. Brain Dev ;2020 (Aug 30)

BACKGROUND AND PURPOSE : Bottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child developmental center. METHODS : We studied 48 shuffling babies who visited Toyota Municipal Child Development Center from April 2007 to March 2015. We excluded patients with cerebral palsy, Down syndrome, or congenital disorders. In 2018, we retrospectively reviewed the clinical charts of the enrolled children. We investigated family history, neurological findings, and the developmental outcome during the follow-up period. RESULTS : During the follow-up period, 20 children (42%) were diagnosed with ASD. Gross motor development in infancy was not different between infants with and without ASD. The rate of poor eye contact at the first visit and a delay in the first word speech were significantly higher in infants with ASD than in infants without ASD. A family history of bottom shuffling was significantly less frequent in infants with ASD (10%) than in those without (39%). CONCLUSION : Some of bottom shufflers may represent ASD during follow-up. Paying attention to social and cognitive functions in shuffling babies is important.

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15. Radhakrishnan M, Won D, Manoharan TA, Venkatachalam V, Chavan RM, Nalla HD. Investigating electroencephalography signals of autism spectrum disorder (ASD) using Higuchi Fractal Dimension. Biomed Tech (Berl) ;2020 (Aug 31)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a deficit of social relationships, interaction, sense of imagination, and constrained interests. Early diagnosis of ASD will aid in devising appropriate training procedures and placing those children in the normal stream. The objective of this research is to analyze the brain response for auditory/visual stimuli in Typically Developing (TD) and children with autism through electroencephalography (EEG). Brain dynamics in the EEG signal can be analyzed well with the help of nonlinear feature primitives. Recent research reveals that, application of fractal-based techniques proves to be effective to estimate of degree of nonlinearity in a signal. This research attempts to analyze the effect of brain dynamics with Higuchi Fractal Dimension (HFD). Also, the performance of the fractal based techniques depends on the selection of proper hyper-parameters involved in it. One of the key parameters involved in computation of HFD is the time interval parameter ’k’. Most of the researches arbitrarily fixes the value of ’k’ in the range of all channels. This research proposes an algorithm to estimate the optimal value of the time parameter for each channel. Sub-band analysis was also carried out for the responding channels. Statistical analysis on the experimental reveals that a difference of 30% was observed between autistic and Typically Developing children.

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16. Ristori MV, Mortera SL, Marzano V, Guerrera S, Vernocchi P, Ianiro G, Gardini S, Torre G, Valeri G, Vicari S, Gasbarrini A, Putignani L. Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders : Phenotype Stratification and Biomarker Discovery. Int J Mol Sci ;2020 (Aug 30) ;21(17)

Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by behavioral alterations and currently affect about 1% of children. Significant genetic factors and mechanisms underline the causation of ASD. Indeed, many affected individuals are diagnosed with chromosomal abnormalities, submicroscopic deletions or duplications, single-gene disorders or variants. However, a range of metabolic abnormalities has been highlighted in many patients, by identifying biofluid metabolome and proteome profiles potentially usable as ASD biomarkers. Indeed, next-generation sequencing and other omics platforms, including proteomics and metabolomics, have uncovered early age disease biomarkers which may lead to novel diagnostic tools and treatment targets that may vary from patient to patient depending on the specific genomic and other omics findings. The progressive identification of new proteins and metabolites acting as biomarker candidates, combined with patient genetic and clinical data and environmental factors, including microbiota, would bring us towards advanced clinical decision support systems (CDSSs) assisted by machine learning models for advanced ASD-personalized medicine. Herein, we will discuss novel computational solutions to evaluate new proteome and metabolome ASD biomarker candidates, in terms of their recurrence in the reviewed literature and laboratory medicine feasibility. Moreover, the way to exploit CDSS, performed by artificial intelligence, is presented as an effective tool to integrate omics data to electronic health/medical records (EHR/EMR), hopefully acting as added value in the near future for the clinical management of ASD.

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17. Siavrienė E, Preikšaitienė E, Maldžienė Ž, Mikštienė V, Rančelis T, Ambrozaitytė L, Gueneau L, Reymond A, Kučinskas V. A de novo 13q31.3 microduplication encompassing the miR-17 92 cluster results in features mirroring those associated with Feingold syndrome 2. Gene ;2020 (Aug 30) ;753:144816.

Hemizygosity of the MIR17HG gene encoding the miR-17 92 cluster is associated with Feingold syndrome 2 characterized by intellectual disability, skeletal abnormalities, short stature, and microcephaly. Here, we report on a female with a de novo 13q31.3 microduplication encompassing MIR17HG but excluding GPC5. She presented developmental delay, skeletal and digital abnormalities, and features such as tall stature and macrocephaly mirroring those of Feingold syndrome 2 patients. The limited extent of the proband’s rearrangement to the miR cluster and the corresponding normal expression level of the neighboring GPC5 in her cells, together with previously described data on affected individuals of two families carrying overlapping duplications of the miR-17 92 cluster that comprise part of GPC5, who likewise presented macrocephaly, developmental delay, as well as skeletal, digital and stature abnormalities, allow to define a new syndrome due to independent microduplication of the miR-17 92 cluster.

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18. Viljoen M, Mahdi S, Shelly J, de Vries PJ. Parental perspectives of functioning in their children with autism spectrum disorder : A global scoping review. Autism ;2020 (Aug 30):1362361320950055.

No paper to date has summarized parents’ views on the functional challenges and/or strengths of their children with autism spectrum disorder. In this review we set out to perform a scoping review aiming to (a) find and compare existing research from around the globe on parental perception of functioning and (b) summarize results from these papers using the International Classification of Functioning Disability and Health-Child and Youth version framework. Since we know that the place and circumstances we live in can have a significant influence on our functioning in daily life, we were specifically interested in comparing perceptions from high-income countries and low-/middle-income countries. Two researchers conducted a comprehensive search of English studies published between 1990 and June 2016. Papers were summarized and key findings were linked to International Classification of Functioning Disability and Health-Child and Youth categories. Thirty-three studies were identified, of which most were conducted in high-income countries (n = 25/33, 76%) with only six studies in low/middle-income countries (n = 6/33, 18%). Two studies compared views from low/middle-income and high-income countries (n = 2/33, 6%). Functional themes from high-income countries included a range across the International Classification of Functioning Disability and Health-Child and Youth framework while functional themes from low-/middle-income countries were mostly focused on environmental factors. It was difficult to directly compare studies from low/middle-income and high-income countries because they investigated and discussed such different parts of functioning. We suggest that future research should use an approach that will allow researchers to directly compare functional categories in order to get a more accurate impression of the impact of context on functioning.

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19. Zhang ZC, Han J. The First National Prevalence of Autism Spectrum Disorder in China. Neurosci Bull ;2020 (Aug 29)

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