1. Barros F, Soares SC. {{Giving meaning to the social world in Autism Spectrum Disorders: Olfaction as a missing piece of the puzzle?}}. {Neurosci Biobehav Rev};2020 (Jun 17)
Altered social cognition is a core feature of Autism Spectrum Disorders (ASD). These impairments have been explained as the consequence of compromised social motivational mechanisms that limit social interest and activate a cascade of social deficits. Following this rational, we argue that approaches capable of surpassing ASD usual restraints (e.g., deficits in verbal abilities), and able to assign social meaning, could be more effective at responding to these difficulties. In this framework, we propose that olfaction, as well as cross-modal integration strategies involving both visual and olfactory domains, may have such potential. In fact, most of socioemotional processing deficits in ASD have been shown in an uni-modal perspective, mainly with visual stimuli. However, the social environment involves other modalities and is typically multisensorial. Given the potential of olfaction as a gateway for socioemotional information in ASD, we argue in favor of studying olfactory perception, as well as visuo-olfactory integration, given the potential of these approaches to drive effective interventions and give the access to a meaningful social world in ASD.
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2. Billeci L, Caterino E, Tonacci A, Gava ML. {{Behavioral and Autonomic Responses in Treating Children with High-Functioning Autism Spectrum Disorder: Clinical and Phenomenological Insights from Two Case Reports}}. {Brain Sci};2020 (Jun 17);10(6)
In this study, we aimed to evaluate the process applied in subjects with Autism Spectrum Disorder (ASD) to elaborate and communicate their experiences of daily life activities, as well as to assess the autonomic nervous system response that subtend such a process. This procedure was evaluated for the first time in two eight-year-old girls with high-functioning ASDs. The subjects performed six months of training, based on the cognitive-motivational-individualized (c.m.i.(®)) approach, which mainly consisted in building domestic procedures and re-elaborating acquired experiences through drawing or the use of icons made by the children. Together with behavioral observations, the response of the autonomic nervous system during such re-elaboration was recorded. A change in communicative and interactive competences was observed, moving from a condition of spontaneity to one in which the girls were engaged in relating their experiences to a parent. Autonomic response highlighted how, in communicating their own experiences, they achieved a state of cognitive activation, which enabled a greater communicative and emotional connection with the interlocutor. This is a proof-of-concept study on the application of the c.m.i.(®), which needs to be extensively validated in the clinical setting.
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3. Boedhoe PSW, van Rooij D, Hoogman M, Twisk JWR, Schmaal L, Abe Y, Alonso P, Ameis SH, Anikin A, Anticevic A, Arango C, Arnold PD, Asherson P, Assogna F, Auzias G, Banaschewski T, Baranov A, Batistuzzo MC, Baumeister S, Baur-Streubel R, Behrmann M, Bellgrove MA, Benedetti F, Beucke JC, Biederman J, Bollettini I, Bose A, Bralten J, Bramati IE, Brandeis D, Brem S, Brennan BP, Busatto GF, Calderoni S, Calvo A, Calvo R, Castellanos FX, Cercignani M, Chaim-Avancini TM, Chantiluke KC, Cheng Y, Cho KIK, Christakou A, Coghill D, Conzelmann A, Cubillo AI, Dale AM, Dallaspezia S, Daly E, Denys D, Deruelle C, Di Martino A, Dinstein I, Doyle AE, Durston S, Earl EA, Ecker C, Ehrlich S, Ely BA, Epstein JN, Ethofer T, Fair DA, Fallgatter AJ, Faraone SV, Fedor J, Feng X, Feusner JD, Fitzgerald J, Fitzgerald KD, Fouche JP, Freitag CM, Fridgeirsson EA, Frodl T, Gabel MC, Gallagher L, Gogberashvili T, Gori I, Gruner P, Gürsel DA, Haar S, Haavik J, Hall GB, Harrison NA, Hartman CA, Heslenfeld DJ, Hirano Y, Hoekstra PJ, Hoexter MQ, Hohmann S, Høvik MF, Hu H, Huyser C, Jahanshad N, Jalbrzikowski M, James A, Janssen J, Jaspers-Fayer F, Jernigan TL, Kapilushniy D, Kardatzki B, Karkashadze G, Kathmann N, Kaufmann C, Kelly C, Khadka S, King JA, Koch K, Kohls G, Kohls K, Kuno M, Kuntsi J, Kvale G, Kwon JS, Lázaro L, Lera-Miguel S, Lesch KP, Hoekstra L, Liu Y, Lochner C, Louza MR, Luna B, Lundervold AJ, Malpas CB, Marques P, Marsh R, Martínez-Zalacaín I, Mataix-Cols D, Mattos P, McCarthy H, McGrath J, Mehta MA, Menchón JM, Mennes M, Martinho MM, Moreira PS, Morer A, Morgado P, Muratori F, Murphy CM, Murphy DGM, Nakagawa A, Nakamae T, Nakao T, Namazova-Baranova L, Narayanaswamy JC, Nicolau R, Nigg JT, Novotny SE, Nurmi EL, Weiss EO, O’Gorman Tuura RL, O’Hearn K, O’Neill J, Oosterlaan J, Oranje B, Paloyelis Y, Parellada M, Pauli P, Perriello C, Piacentini J, Piras F, Plessen KJ, Puig O, Ramos-Quiroga JA, Reddy YCJ, Reif A, Reneman L, Retico A, Rosa PGP, Rubia K, Rus OG, Sakai Y, Schrantee A, Schwarz L, Schweren LJS, Seitz J, Shaw P, Shook D, Silk TJ, Simpson HB, Skokauskas N, Soliva Vila JC, Solovieva A, Soreni N, Soriano-Mas C, Spalletta G, Stern ER, Stevens MC, Stewart SE, Sudre G, Szeszko PR, Tamm L, Taylor MJ, Tolin DF, Tosetti M, Tovar-Moll F, Tsuchiyagaito A, van Erp TGM, van Wingen GA, Vance A, Venkatasubramanian G, Vilarroya O, Vives-Gilabert Y, von Polier GG, Walitza S, Wallace GL, Wang Z, Wolfers T, Yoncheva YN, Yun JY, Zanetti MV, Zhou F, Ziegler GC, Zierhut KC, Zwiers MP, Thompson PM, Stein DJ, Buitelaar J, Franke B, van den Heuvel OA. {{Subcortical Brain Volume, Regional Cortical Thickness, and Cortical Surface Area Across Disorders: Findings From the ENIGMA ADHD, ASD, and OCD Working Groups}}. {Am J Psychiatry};2020 (Jun 16):appiajp202019030331.
OBJECTIVE: Attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and obsessive-compulsive disorder (OCD) are common neurodevelopmental disorders that frequently co-occur. The authors sought to directly compare these disorders using structural brain imaging data from ENIGMA consortium data. METHODS: Structural T(1)-weighted whole-brain MRI data from healthy control subjects (N=5,827) and from patients with ADHD (N=2,271), ASD (N=1,777), and OCD (N=2,323) from 151 cohorts worldwide were analyzed using standardized processing protocols. The authors examined subcortical volume, cortical thickness, and cortical surface area differences within a mega-analytical framework, pooling measures extracted from each cohort. Analyses were performed separately for children, adolescents, and adults, using linear mixed-effects models adjusting for age, sex, and site (and intracranial volume for subcortical and surface area measures). RESULTS: No shared differences were found among all three disorders, and shared differences between any two disorders did not survive correction for multiple comparisons. Children with ADHD compared with those with OCD had smaller hippocampal volumes, possibly influenced by IQ. Children and adolescents with ADHD also had smaller intracranial volume than control subjects and those with OCD or ASD. Adults with ASD showed thicker frontal cortices compared with adult control subjects and other clinical groups. No OCD-specific differences were observed across different age groups and surface area differences among all disorders in childhood and adulthood. CONCLUSIONS: The study findings suggest robust but subtle differences across different age groups among ADHD, ASD, and OCD. ADHD-specific intracranial volume and hippocampal differences in children and adolescents, and ASD-specific cortical thickness differences in the frontal cortex in adults, support previous work emphasizing structural brain differences in these disorders.
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4. Caruso A, Ricceri L, Scattoni ML. {{Ultrasonic vocalizations as a fundamental tool for early and adult behavioral phenotyping of Autism Spectrum Disorder rodent models}}. {Neurosci Biobehav Rev};2020 (Jun 13)
In rodent models of Autism Spectrum Disorders (ASD), the study of ultrasonic vocalizations has provided the unique opportunity to evaluate social communication and interaction in ethologically-appropriate contexts, behavioral domains relevant to the first core symptom of ASD. In the present review, we selected and evaluated ultrasonic vocalizations’ data collected in rodent models of ASD in different experimental settings, either in the neonatal phase or in adulthood. Both quantitative (calling rates) and qualitative (range and shape of the vocal repertoire) abnormalities have been evidenced. The aim of our work was to highlight several promises and a few caveats in the use of ultrasonic vocalizations for behavioral phenotyping of ASD models and give some suggestions to maximize the translational value of these studies.
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5. Croci S, Carriero ML, Capitani K, Daga S, Donati F, Papa FT, Frullanti E, Lopergolo D, Lamacchia V, Tita R, Giliberti A, Benetti E, Niccheri F, Furini S, Lo Rizzo C, Conticello SG, Renieri A, Meloni I. {{AAV-mediated FOXG1 gene editing in human Rett primary cells}}. {Eur J Hum Genet};2020 (Jun 15)
Variations in the Forkhead Box G1 (FOXG1) gene cause FOXG1 syndrome spectrum, including the congenital variant of Rett syndrome, characterized by early onset of regression, Rett-like and jerky movements, and cortical visual impairment. Due to the largely unknown pathophysiological mechanisms downstream the impairment of this transcriptional regulator, a specific treatment is not yet available. Since both haploinsufficiency and hyper-expression of FOXG1 cause diseases in humans, we reasoned that adding a gene under nonnative regulatory sequences would be a risky strategy as opposed to a genome editing approach where the mutated gene is reversed into wild-type. Here, we demonstrate that an adeno-associated viruses (AAVs)-coupled CRISPR/Cas9 system is able to target and correct FOXG1 variants in patient-derived fibroblasts, induced Pluripotent Stem Cells (iPSCs) and iPSC-derived neurons. Variant-specific single-guide RNAs (sgRNAs) and donor DNAs have been selected and cloned together with a mCherry/EGFP reporter system. Specific sgRNA recognition sequences were inserted upstream and downstream Cas9 CDS to allow self-cleavage and inactivation. We demonstrated that AAV serotypes vary in transduction efficiency depending on the target cell type, the best being AAV9 in fibroblasts and iPSC-derived neurons, and AAV2 in iPSCs. Next-generation sequencing (NGS) of mCherry(+)/EGFP(+) transfected cells demonstrated that the mutated alleles were repaired with high efficiency (20-35% reversion) and precision both in terms of allelic discrimination and off-target activity. The genome editing strategy tested in this study has proven to precisely repair FOXG1 and delivery through an AAV9-based system represents a step forward toward the development of a therapy for Rett syndrome.
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6. D’Agati E, Abate R, Gialloreti LE, Napolitano C, Postorino V, Curatolo P, Mazzone L. {{Sleep problems in attention-deficit/hyperactivity disorder and autism spectrum disorder: Sex differences and parental stress}}. {Psychiatry Res};2020 (Jun 7);291:113099.
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7. Dwyer P, Wang X, De Meo-Monteil R, Hsieh F, Saron CD, Rivera SM. {{Defining clusters of young autistic and typically developing children based on loudness-dependent auditory electrophysiological responses}}. {Mol Autism};2020 (Jun 15);11(1):48.
BACKGROUND: Autistic individuals exhibit atypical patterns of sensory processing that are known to be related to quality of life, but which are also highly heterogeneous. Previous investigations of this heterogeneity have ordinarily used questionnaires and have rarely investigated sensory processing in typical development (TD) alongside autism spectrum development (ASD). METHODS: The present study used hierarchical clustering in a large sample to identify subgroups of young autistic and typically developing children based on the normalized global field power (GFP) of their event-related potentials (ERPs) to auditory stimuli of four different loudness intensities (50, 60, 70, 80 dB SPL): that is, based on an index of the relative strengths of their neural responses across these loudness conditions. RESULTS: Four clusters of participants were defined. Normalized GFP responses to sounds of different intensities differed strongly across clusters. There was considerable overlap in cluster assignments of autistic and typically developing participants, but autistic participants were more likely to display a pattern of relatively linear increases in response strength accompanied by a disproportionately strong response to 70 dB stimuli. Autistic participants displaying this pattern trended towards obtaining higher scores on assessments of cognitive abilities. There was also a trend for typically developing participants to disproportionately fall into a cluster characterized by disproportionately/nonlinearly strong 60 dB responses. Greater auditory distractibility was reported among autistic participants in a cluster characterized by disproportionately strong responses to the loudest (80 dB) sounds, and furthermore, relatively strong responses to loud sounds were correlated with auditory distractibility. This appears to provide evidence of coinciding behavioral and neural sensory atypicalities. LIMITATIONS: Replication may be needed to verify exploratory results. This analysis does not address variability related to classical ERP latencies and topographies. The sensory questionnaire employed was not specifically designed for use in autism. Hearing acuity was not measured. Variability in sensory responses unrelated to loudness is not addressed, leaving room for additional research. CONCLUSIONS: Taken together, these data demonstrate the broader benefits of using electrophysiology to explore individual differences. They illuminate different neural response patterns and suggest relationships between sensory neural responses and sensory behaviors, cognitive abilities, and autism diagnostic status.
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8. Fu YC, Tsai SK, Jian WY, Shyu TC, Chuang CM, Hwang B. {{Transthoracic echocardiography monitoring during ASD closure using an artificial hand system}}. {Cardiovasc Ultrasound};2020 (Jun 17);18(1):21.
AIM: Continuous real-time echocardiographic monitoring is essential for guidance during ASD closure. However, transthoracic echocardiography (TTE) can only be implemented intermittently during fluoroscopy. We evaluate a novel approach to provide real-time imaging during the entire procedure. FINDING: We developed a custom-made TTE monitoring apparatus using artificial hand (AH-TTE) that enables real-time TTE images during atrial septal defect (ASD) closure. Thirty-two patients underwent successful device implantation using AH-TTE monitoring without complications. The median duration for real-time AH-TTE monitoring was 22 min and the median fluoroscopy time was 7.2 min. One case of pericardial effusion and one of transient bradycardia event due to air embolism was detected. All patients had uneventful recoveries. CONCLUSIONS: Our simple and novel monitoring technique with AH-TTE provides TEE-like monitoring and may be a new alternative method for ASD closure. It gives real-time stable TTE images and minimizes radiation exposure for the interventional team during fluoroscopy.
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9. Gara SK, Chhetri AG, Alrjoob M, Abbasi SAA, Rutkofsky IH. {{The Sensory Abnormalities and Neuropsychopathology of Autism and Anxiety}}. {Cureus};2020 (May 12);12(5):e8071.
Autism spectrum disorder (ASD) is a developmental disorder of interpersonal communications and restricted interest and deficits in sensory and social interactions. It co-occurs with anxiety and mostly in 30% of cases related to specific phobia. This review article summarises the sensory association between anxiety and ASD. The role of emotions and neurobiology discussed and sensory over-reactivity (SOR) was related to ASD and anxiety. PubMed database systematically searched for related articles on ASD and anxiety. The keywords used are autism spectrum disorder, autism spectrum disorder and emotion, anxiety disorder, sensory in autism and anxiety, and psychopathology. The results were most significant and related to the sensory association between ASD and anxiety. Out of 19 studies discussed, there were eight systematic reviews with meta-analysis, seven systematic reviews, three traditional reviews, and one included both systematic reviews with randomized controlled trials (RCTs). However, due to possible limitations and considerations, like small sample size and few clinical trials; hence, further recommendations to randomized clinical trials and cohort studies warranted. This review article helps scientists to plan and focus on necessary studies and possible screening for the disease to improve possible clinical outcomes. People gain awareness of the disease. Early recognition, as well as educational, behavioral, and family therapy, might decrease symptoms and support learning and development in children.
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10. Gogou M, Kolios G. {{[Is there place for nutrition in the treatment of children with autism spectrum disorder?]}}. {Psychiatriki};2020 (Jan-Mar);31(1):57-69.
Autism is a neurodevelopmental disorder associated with significant social and financial burden. In recent years there has been an increasing interest in the use of dietary interventions as a complementary therapeutic option for these patients. The aim of this systematic review is to provide literature data about the effect of specific dietary interventions on clinical aspects of children with autism. For this reason, a literature search was conducted using Pubmed as the medical database source. No year-of-publication restriction was placed. Prospective studies conducted in pediatric populations and evaluating changes in clinical aspects of autism were considered. Types of dietary interventions evaluated in these studies included amino acids, fatty acids, vitamins/minerals, as well as specific diets (free of gluten/casein, ketogenic). The underlying mechanism of action of nutritional interventions in this pediatric population mainly includes regulation of neurotransmitters levels, as well as modification of gut microbiota. More specifically, Ν-acetylcysteine was shown to exert a beneficial effect on symptoms of irritability. This beneficial effect could be attributed to its antiglutamergic and antioxidative properties. With regards to fatty acids, it is known that they are involved in dopamine and serotonin metabolism, while low values of fatty acids have been reported in serum of patients with various neuropsychiatric disorders. However, their administration in children with autism did not make any difference in terms of clinical aspects of the disease. On the other hand, available literature data about effect of D-cycloserine, dimethylglycine and vitamins/minerals was either few or controversial. In parallel, we were able to identify in literature clinical studies showing a beneficial effect of gluten/casein-free and ketogenic diet on clinical phenotype of autism. Finally, it should be highlighted that no moderate or serious adverse events were reported in any of the above nutritional interventions. In general, current literature data is encouraging. Nevertheless, more randomized clinical trials are needed to more clearly confirm the effect of specific dietary interventions on clinical aspects of autism.
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11. Herrmann L, Bindt C, Schweizer K, Micheel J, Nieder TO, Haaß J, Schöttle D, Becker-Hebly I. {{[Autism Spectrum Disorders and Gender Dysphoria Among Children and Adolescents: Systematic Review on the Co-Occurrence]}}. {Psychiatr Prax};2020 (Jun 15)
OBJECTIVE: The review systematically reviews the literature on co-occurring gender dysphoria/gender variance and autism spectrum disorder among children and adolescents. METHODS: A systematic literature search was conducted for the years 1946 to December 2018. RESULTS: 144 publications could be identified in the literature search. Out of these, 22 publications met the inclusion criteria for the systematic review. 4.7 to 13.3 % of the children and adolescents with primarily diagnosed gender dysphoria/variance examined in the studies also had an autism diagnosis. In samples of children and adolescents with primarily diagnosed autism gender variance was overrepresented with a prevalence of 4 to 6.5 %. CONCLUSION: The results of the systematic review point towards an overrepresentation of co-occurring gender dysphoria/variance and autism spectrum disorder. Methodological and clinical implications are discussed.
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12. Hughes JA. {{Does the heterogeneity of autism undermine the neurodiversity paradigm?}}. {Bioethics};2020 (Jun 15)
The neurodiversity paradigm is presented by its proponents as providing a philosophical foundation for the activism of the neurodiversity movement. Its central claims are that autism and other neurodivergent conditions are not disorders because they are not intrinsically harmful, and that they are valuable, natural and/or normal parts of human neurocognitive variation. This paper: (a) identifies the non-disorder claim as the most central of these, based on its prominence in the literature and connections with the practical policy claims that the paradigm is supposed to support; (b) describes the heterogeneity of autism at the behavioural and causal levels, and argues that at the behavioural level this encompasses ways of being autistic that are harmful in ways that cannot be not wholly attributed to discrimination or unjust social arrangements, challenging the claim that autism is not a disorder; (c) considers and rejects responses to this challenge based on separation of high- and low-functioning autism, separation of autism from co-occurring conditions, and viewing autism as part of an individual’s identity. Two of these responses fail for reasons that are themselves connected with the behavioural and/or causal heterogeneity of autism.
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13. Ioannou S, Key AP, Muscatello RA, Klemencic M, Corbett BA. {{Peer Actors and Theater Techniques Play Pivotal Roles in Improving Social Play and Anxiety for Children With Autism}}. {Front Psychol};2020;11:908.
Children with autism spectrum disorder (ASD) have significant difficulty in social functioning to include engaging in natural play with peers. Many children with ASD exhibit significantly less interactive play and more physiological stress during benign social encounters with same-age peers on a playground. Theatrical role-playing and performance with expert role models may provide a unique opportunity for children with ASD to learn to engage with other children in a safe, supportive environment. SENSE Theatre(®) is a peer-mediated, theater-based program aimed at improving social competence in youth with ASD. Previous studies have shown significant improvements in social and communication skills following SENSE Theatre(®) intervention. The current project examined play with novel peers and self-reported anxiety before and after participation in SENSE Theatre(®). Participants included 77 children between 8 and 16 years with high-functioning (IQ ≥ 70) ASD. The combined sample of three cohorts was randomized to the experimental (EXP, N = 44) or waitlist control (WLC, N = 33) group. Participants in the EXP group received 40 h (10, 4-h sessions) of SENSE Theatre(®). The Peer Interaction Paradigm (PIP), an ecologically valid measure of natural play, was administered before and after the intervention. Group Play and Self Play on the playground equipment during solicited (T4) and unsolicited (T1) play were used in the current study. The State Trait Anxiety Scale for Children (STAIC; Spielberger et al., 1983) was used to measure self-reported current and persistent anxiety, respectively. Following treatment, children in the EXP group engaged in significantly more Group Play with novel peers [F(2,73) = 7.78, p = 0.007] and much less Self Play [F(2,73) = 6.70, p = 0.01] during solicited play compared to the WLC group. Regression analysis revealed that pretreatment play and group status were significant predictors of solicited Group Play. Children in the EXP group reported significantly less Trait anxiety following intervention [F(2,71) = 6.87, p = 0.01]; however, State anxiety was comparable. Results corroborate previous findings of significant changes in social and play behavior in children with ASD following the peer-mediated, theater-based intervention. Acting and theatrical performance with supportive role models facilitates social engagement in everyday settings with novel peers and reductions in self-reported anxiety.
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14. Johnson K, Herring J, Richstein J. {{Fragile X Premutation Associated Conditions (FXPAC)}}. {Front Pediatr};2020;8:266.
The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation. To date, there has not been an umbrella term assigned to issues associated with the FMR1 premutation, though several defined conditions which affect some premutation carriers, namely Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), are now commonly accepted. An overarching term covering all FX premutation conditions will help doctors in determining how the premutation might be affecting their patient; and encourage researchers to explore the interrelationships of the various conditions affecting premutation carriers. Further, there are ongoing discoveries about physical and psychological issues faced by premutation carriers, and a new term helps encompass all of these burgeoning developments.
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15. Lu Y, Liang Y, Ning S, Deng G, Xie Y, Song J, Zuo N, Feng C, Qin Y. {{Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder}}. {Mol Cytogenet};2020;13:21.
BACKGROUND: Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related disorders, characterized by hypotonia motor delays, autism spectrum disorder (ASD), intellectual disability, and epilepsy including infantile spasms, might be account for 50% of the total sSMCs. CASE PRESENTATION: An 11-month-old infant with an sSMC found by banding cytogenetics was referred to our clinic because of developmental retardation and autism spectrum disorder. After several months of rehabilitation treatment, the progress of motor development was obvious, but the consciousness was still far from satisfied. High-resolution karyotype analysis, multiplex ligation-dependent probe amplification and copy number variation sequencing (CNV-Seq) were conducted to confirm the identity of the sSMC. A bisatellited dicentric sSMC was observed clearly in high-resolution karyotype analysis and a 10.16-Mb duplication of 15q11.1q13.2 (3.96 copies) together with a 1.84-Mb duplication of 15q13.2q13.3 (3 copies) was showed by CNV-Seq in the proband. It suggested that the molecular cytogenetic karyotype was 47,XY,+dic(15;15)(q13.2;q13.3). Furthermore, the clinical symptoms of the proband mostly fit 15q duplication related disorders which are characterized by hypotonia motor delays, autism spectrum disorder (ASD), and intellectual disability. CONCLUSION: We reported for the first time using CNV-Seq to detect sSMCs and find a partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder. Our report indicates that CNV-seq is a useful and economical way for diagnosis of dup15q and related disorders.
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16. Mansour Y, Kulesza R. {{Three dimensional reconstructions of the superior olivary complex from children with autism spectrum disorder}}. {Hear Res};2020 (May 23);393:107974.
Auditory dysfunction is a common symptom of autism spectrum disorder (ASD) and ranges from decreased acuity to hypersensitivity where routine sounds may result in panic or anxiety. Irrespective of altered sensitivity, there is often additional difficulty of listening in background noise. Previous studies of post-mortem brain specimens from subjects with ASD have revealed consistent dysmorphology in the superior olivary complex (SOC). The medial superior olive (MSO) is the largest and most prominent nucleus in the human SOC. Our morphological studies have shown that in subjects with ASD, there are significantly fewer neurons in the MSO and surviving neurons are smaller, more round and have abnormal dendritic orientations. Based on these findings, we hypothesize that the SOC in subjects with ASD not only includes fewer neurons but that these nuclei occupy significantly less brain volume and demonstrate abnormal nuclear contours. We investigated this hypothesis by making 3D volume renderings of the SOC nuclei using Amira software. Subjects in this study include three neurotypical and seven age-matched (ages 2-11 years of age) children with ASD. Our 3D reconstructions and volume measurements of the SOC nuclei emphasize the drastic alterations in the size, volume and organization of the human SOC in ASD.
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17. Meilleur A, Foster NEV, Coll SM, Brambati SM, Hyde KL. {{Unisensory and multisensory temporal processing in autism and dyslexia: A systematic review and meta-analysis}}. {Neurosci Biobehav Rev};2020 (Jun 13)
This study presents a comprehensive systematic review and meta-analysis of temporal processing in autism spectrum disorder (ASD) and developmental dyslexia (DD), two neurodevelopmental disorders in which temporal processing deficits have been highly researched. The results provide strong evidence for impairments in temporal processing in both ASD (g = 0.48) and DD (g = 0.82), as measured by judgments of temporal order and simultaneity. In individual analyses, multisensory temporal processing was impaired for both ASD and DD, and unisensory auditory, visual and tactile processing were all impaired in DD. In ASD, speech stimuli showed moderate impairment effect sizes, whereas nonspeech stimuli showed small effects. Greater reading and spelling skills in DD were associated with greater temporal precision. Temporal deficits did not show changes with age in either disorder. In addition to more clearly defining temporal impairments in ASD and DD, the results highlight common and distinct patterns of temporal processing between these disorders. Deficits are discussed in relation to existing theoretical models, and recommendations are made for future research.
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18. Pellegrino AJ, DiGennaro Reed FD. {{Using telehealth to teach valued skills to adults with intellectual and developmental disabilities}}. {J Appl Behav Anal};2020 (Jun 15)
Telehealth uses electronic information and telecommunication technologies to deliver long-distance clinical services. It has successfully been used by clinical professionals to teach family and staff members to provide evidence-based assessment and treatment procedures. There is no research to date, however, evaluating the use of telehealth to directly teach individuals with intellectual and developmental disabilities (IDD). Thus, we evaluated the efficacy of a telehealth intervention using total task chaining with least-to-most prompting delivered via videoconference to 2 adults with IDD. Both participants demonstrated low independent responding during baseline with enhanced written instructions present. During intervention, which included vocal and model prompting, both participants met the mastery criterion for each skill in fewer than 15 sessions, which maintained after 2 weeks. Finally, both participants expressed satisfaction with the goals, procedures, and effects of the intervention. We discuss the broader scope of the intervention for individuals with disabilities when face-to-face services may not be feasible.
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19. Samanta D. {{An Updated Review of Tuberous Sclerosis Complex-Associated Autism Spectrum Disorder}}. {Pediatr Neurol};2020 (Jun 17)
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder caused by mutations of either the TSC1 or TSC2 gene. Various neuropsychiatric features, including autism, are prevalent in TSC. Recently, significant progress has been possible with the prospective calculation of the prevalence of autism in TSC, identification of early clinical and neurophysiological biomarkers to predict autism, and investigation of different therapies to prevent autism in this high-risk population. The author provides a narrative review of recent findings related to biomarkers for diagnosis of autism in TSC, as well as recent studies related to the management of TSC-associated autism. Further sophisticated modeling and analysis are required to understand the role of different models-tuber models, seizures and related neurophysiological factors models, genotype models, and brain connectivity models-to unravel the neurobiological basis of autism in TSC. Early neuropsychologic assessments may be beneficial in this high-risk group. Targeted intervention to improve visual skill, cognition, and fine motor skills with later addition of social skill training can be helpful. Multicenter, prospective studies are ongoing to identify if presymptomatic treatment with vigabatrin in patients with TSC can improve outcomes, including autism. Several studies indicated reasonable safety of everolimus in young children, and its potential application in high-risk infants with TSC, before the closure of the temporal window of permanent changes, maybe undertaken shortly.
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20. Skuse D. {{Autism – 25 years on: A lot has changed!}}. {Clin Child Psychol Psychiatry};2020 (Jun 14):1359104520929729.
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21. Trembath D, Sutherland R, Caithness T, Dissanayake C, Eapen V, Fordyce K, Frost G, Iacono T, Mahler N, Masi A, Paynter J, Pye K, Reilly S, Rose V, Sievers S, Thirumanickam A, Westerveld M, Tucker M. {{Clinician Proposed Predictors of Spoken Language Outcomes for Minimally Verbal Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2020 (Jun 17)
Our aim was to explore insights from clinical practice that may inform efforts to understand and account for factors that predict spoken language outcomes for children with Autism Spectrum Disorder who use minimal verbal language. We used a qualitative design involving three focus groups with 14 speech pathologists to explore their views and experiences. Using the Framework Method of analysis, we identified 9 themes accounting for 183 different participant references to potential factors. Participants highlighted the relevance of clusters of fine-grained social, communication, and learning behaviours, including novel insights into prelinguistic vocal behaviours. The participants suggested the potential value of dynamic assessment in predicting spoken language outcomes. The findings can inform efforts to developing clinically relevant methods for predicting children’s communication outcomes.
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22. Xie L, Gelfand A, Delclos GL, Atem FD, Kohl HW, 3rd, Messiah SE. {{Estimated Prevalence of Asthma in US Children With Developmental Disabilities}}. {JAMA Netw Open};2020 (Jun 1);3(6):e207728.
IMPORTANCE: The prevalence of asthma in US children with various developmental disabilities and delays is unclear, including how estimates vary by ethnic group. OBJECTIVE: To report asthma prevalence estimates by various disability categories and developmental delays in a diverse sample of the US pediatric population. DESIGN, SETTING, AND PARTICIPANTS: This population-based cross-sectional study encompassed a total of 71 811 families with children or adolescents aged 0 to 17 years (hereinafter referred to as children) who participated in the 2016 and 2017 National Survey of Children’s Health. Data were collected from June 10, 2016, to February 10, 2017, for the 2016 survey and from August 10, 2017, to February 10, 2018, for the 2017 survey. Data were analyzed from September 20, 2019, to April 5, 2020. EXPOSURES: Developmental disability, including attention-deficit/hyperactivity disorder, autism spectrum disorder, cerebral palsy, seizure, intellectual and/or learning disability, and vision, hearing, and/or speech delay. Delay was defined as not meeting growth milestones with unknown cause. MAIN OUTCOMES AND MEASURES: Weighted asthma prevalence estimates and 95% CIs were generated for children with and without disabilities. RESULTS: A total of 71 811 participants (mean [SE] age, 8.6 [0.1] years; 36 800 boys [51.1%; 95% CI, 50.2%-52.0%]; 50 219 non-Hispanic white [51.4%; 95% CI, 50.6%-52.3%]) were included in our final analytical sample, of whom 5687 (7.9%; 95% CI, 7.5%-8.4%) had asthma and 11 426 (15.3%; 95% CI, 14.7%-16.0%) had at least 1 disability. Overall asthma prevalence estimates were 10 percentage points higher in children with a disability (16.1%; 95% CI, 14.3%-17.8%) vs children without a disability (6.5%; 95% CI, 6.0%-6.9%). The odds of asthma were significantly higher in children with a disability (odds ratio [OR], 2.77; 95% CI, 2.39-3.21) or delay (OR, 2.22; 95% CI, 1.78-2.77) vs typically growing children. Adjusted models remained significant for all disability categories (overall adjusted OR, 2.21; 95% CI, 1.87-2.62). Subgroup analyses showed ethnic minorities had a higher prevalence of concurrent asthma and developmental disabilities vs non-Hispanic whites (19.8% [95% CI, 16.6%-23.0%] vs 12.6% [95% CI, 11.1%-14.0%]; P < .001). CONCLUSIONS AND RELEVANCE: These results suggest that US children with various developmental disabilities or delay may have higher odds for developing asthma vs their typically developing peers. These findings support asthma screening in pediatric health care settings among patients with developmental disabilities and delays, particularly among those from ethnic minority backgrounds. In addition, very young children with asthma should be screened for disabilities and delays, because temporality cannot be determined by the current data source and analytical approach. Lien vers le texte intégral (Open Access ou abonnement)
23. Yang Y. {{A preliminary evaluation of still face images by deep learning: A potential screening test for childhood developmental disabilities}}. {Med Hypotheses};2020 (Jun 7);144:109978.
Most developmental disorders are defined by their clinical symptoms and many disorders share common features. The main objective of this research is to evaluate still facial images as a potential screening test for childhood developmental disabilities, which is free of any biases of subjective judgments of human observers. Via supervised machine learning, a classifier of convolution neural network (CNN) was built by using 908 facial images, half of those were photos of children labeled with « autism », which may include some developmental disorders with autism-like features. Then face images were generated for two categories of photos. Above all, the most important discovery of this research is that face images labeled « autism » and normal controls populate two quite distinctive manifolds. Different pattern was found to be distributed in the eyes and mouth in the generated photos for two categories of faces by deep learning. It is showed that supervised machine learning can obtain facial features, which could possibly be applicable to improve early screening for childhood developmental disabilities by facial expression. A simple computer-based screening test of still face images may prove to be a useful adjunct in many clinical settings.
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24. Zhan Y, Wei J, Liang J, Xu X, He R, Robbins TW, Wang Z. {{Diagnostic Classification for Human Autism and Obsessive-Compulsive Disorder Based on Machine Learning From a Primate Genetic Model}}. {Am J Psychiatry};2020 (Jun 16):appiajp202019101091.
OBJECTIVE: Psychiatric disorders commonly comprise comorbid symptoms, such as autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), and attention deficit hyperactivity disorder (ADHD), raising controversies over accurate diagnosis and overlap of their neural underpinnings. The authors used noninvasive neuroimaging in humans and nonhuman primates to identify neural markers associated with DSM-5 diagnoses and quantitative measures of symptom severity. METHODS: Resting-state functional connectivity data obtained from both wild-type and methyl-CpG binding protein 2 (MECP2) transgenic monkeys were used to construct monkey-derived classifiers for diagnostic classification in four human data sets (ASD: Autism Brain Imaging Data Exchange [ABIDE-I], N=1,112; ABIDE-II, N=1,114; ADHD-200 sample: N=776; OCD local institutional database: N=186). Stepwise linear regression models were applied to examine associations between functional connections of monkey-derived classifiers and dimensional symptom severity of psychiatric disorders. RESULTS: Nine core regions prominently distributed in frontal and temporal cortices were identified in monkeys and used as seeds to construct the monkey-derived classifier that informed diagnostic classification in human autism. This same set of core regions was useful for diagnostic classification in the OCD cohort but not the ADHD cohort. Models based on functional connections of the right ventrolateral prefrontal cortex with the left thalamus and right prefrontal polar cortex predicted communication scores of ASD patients and compulsivity scores of OCD patients, respectively. CONCLUSIONS: The identified core regions may serve as a basis for building markers for ASD and OCD diagnoses, as well as measures of symptom severity. These findings may inform future development of machine-learning models for psychiatric disorders and may improve the accuracy and speed of clinical assessments.
