1. Alcañiz M, Maddalon L, Minissi ME, Sirera M, Abad L, Chicchi Giglioli IA. [Adaptive technological interventions for autism spectrum disorder: a literature review]. Medicina. 2022; 82 Suppl 1: 54-8.

Individuals with autistic spectrum disorder are often described as having communication, social, emotional, nd behavioral impairments. They are often isolated and passive, with few opportunities for positive and constructive interaction with the outside world. Moreover, they may exhibit withdrawn, stereotyped and disruptive behaviors. The aforementioned conditions can seriously hamper their ability to adapt to the environment, with negative consequences on their quality of life. Phenotypic heterogeneity and manifestation, as well as symptom severity, can vary greatly from child to child. These determine the need for individualized and adaptive interventions according to specific needs, including factors such as age, intellectual ability, and specific affected areas. Early intervention would promote adaptive skills, self-determination, and autonomy towards the environment. However, wait times and costs do not allow for early assessment, and therefore intervention times are delayed, affecting the quality of life of children and parents. In addition, traditional intervention programs depend on the expertise of the therapists. One possible way to overcome this problem is by using objective adaptive technologies based on needs. This article aims to provide an overview of the empirical evidence available over the past seven years. Overall, 8 studies were selected, with 132 participants using 4 technological systems. Finally, the technological, clinical, psychological, and rehabilitative implications of the findings are discussed. Practical guidelines within this topic area are outlined as future research perspectives.

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2. Hegde R, Hegde S, Kulkarni SS, Pandurangi A, Gai PB, Das KK. Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India. Global medical genetics. 2022; 9(1): 18-22.

Background  Autism is one of the most complex, heterogeneous neurological disorders. It is characterized mainly by abnormal communication, impaired social interaction, and restricted behaviors. Prevalence of autism is not clear in Indian population. Aim  The present study hypothesized that Y chromosome plays role in sex bias of autism in Indian autistic population. To investigate our hypothesis, we underwent genetic analysis of neuroligin 4Y [ NLGN4Y ] gene by sequencing 85 male autistic children after screening large population of 1,870 mentally ill children from North Karnataka region of India. Result  Detailed sequencing of the single targeted gene revealed nine variants including, one novel missense mutation and eight synonymous variants; this accounts for 88.9% of synonymous variants. A single novel missense mutation is predicted to be nonpathogenic on the functions of neuroligin4Y protein but it slightly affects the local configuration by altering the original structure of a protein by changing charge and size of amino acid. Conclusion  Probably NLGN4Y gene may not be the risk factor for autism in male children in Indian autistic population. Functional analysis was an important limitation of our study. Therefore, detailed functional analysis is necessary to determine the exact role of novel missense mutation of neuroligin 4Y [ NLGN4Y ] gene especially in the male predominance of autism in Indian autistic population.

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3. Hervás A. [Female gender and autism: under detection and my diagnoses]. Medicina. 2022; 82 Suppl 1: 37-42.

INTRODUCTION: Autism or ASDs are neurodevelopmental disorders that affect socio-communicative development, interests, and a restricted and stereotyped pattern of interests and behavior. Epidemiological studies indicate that there are 3 times more boys affected with autism than girls but clinical studies indicate a much higher preponderance in favor of boys. There is an under detection of autism with a late or wrong diagnosis more frequently in girls and women with autism. OBJECTIVE: To analyze the clinical presentation of autism in girls and women, factors related to under detection and diagnosis or diagnostic confusion, and mechanisms for improving its diagnosis and intervention. MATERIAL AND METHODS: We will analyze the differences in the clinical presentation of autism between genders, social and cultural factors, cognitive aspects and differential comorbidities in boys and girls with autism, current limitations of diagnostic instruments for the evaluation of autism and which are aspects to improve for a better identification, earlier and more accurate of autism in the female gender. CONCLUSIONS: Autism in the female gender presents differential clinical, cognitive and biological characteristics associated with under detection and late diagnosis.

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4. Jacques C, Courchesne V, Mineau S, Dawson M, Mottron L. Positive, negative, neutral-or unknown? The perceived valence of emotions expressed by young autistic children in a novel context suited to autism. Autism : the international journal of research and practice. 2022: 13623613211068221.

Autistic people are believed to have emotions that are too negative and not positive enough, starting early in life. Their facial expressions are also persistently judged to be unusual, as reflected in criteria used to identify autism. But it is possible that common autistic facial expressions are poorly understood by observers, as suggested by a range of findings from research. Another issue is that autistic emotions have always been assessed in contexts suited to non-autistics. In our study, the facial expressions of young autistic and typical children were rated as positive, negative, neutral, or « unknown »-a category we created for emotions that observers notice but do not understand. These emotions were assessed using a context suited to autistic children, including objects of potential interest to them. We found that in this context, autistic and typical children did not differ in positive, negative, or neutral facial emotions. They did differ in unknown emotions, which were found only in autistic children. We also found that repetitive behaviors in autistic children co-occurred with positive, neutral, and unknown emotions, but not with negative emotions. In a context which suits their characteristics, autistic children do not show emotions that are too negative or not positive enough. They do show emotions perceived as unknown, which means we need to improve our understanding of their full emotional repertoire.

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5. Klin A. Frontiers in the research of autism pathogenesis. Medicina. 2022; 82 Suppl 1: 33-6.

This review focuses on four interrelated teams and research lines that form the basis for new research on the pathogenesis of autism spectrum disorder (ASD) at the Marcus Autism Center, in Atlanta (US). These themes probe typical social behavior and brain development from birth, and disruptions thereof in babies later diagnosed with ASD. These four themes are: to leverage lifetime maximal neuroplasticity; to test the hypothesis that developmental disruption of early-emerging mechanisms of socialization drives pathogenesis and results in autistic social disability; the focus on the infant-caregiver dyad, and the iterative context associated with mutually reinforcing and adapted social and communitive inter-action, or emerging cycles of social contingency, from the first days and weeks of life; and the study of time-varying neurodevelopmental transitions in social behavior from experience-expectant (reflexive, endogenous) and subcortically-guided to experience-dependent (caregiver- and reward-driven) and cortically-guided, a transition that our work suggests is uniquely disrupted in babies later diagnosed with ASD. This science is opening a world of opportunities to optimize children’s outcomes despite the genetic liabilities that they are born with. It provides the scientific grounding for new community-viable solutions for increasing access to early interventions using treatments that scaffold and strengthen infant-caregiver interactions, which is the platform for early brain development.

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6. Pitliuk R, Coelho CMF, Fucci T. Unexpected improvement of hyperhidrosis with cannabidiol. Einstein (Sao Paulo, Brazil). 2022; 20: eRC5795.

Hyperhidrosis is characterized by excessive sweating and it affects almost 5% of the population. The affected age group is wide, and it can affect from children to elderlies. There are two types of hyperhidrosis: generalized and focal. Treatment depends on the symptoms presented. In more severe cases, radiofrequency sympatholysis and bilateral thoracic sympathectomy are the options. However, recurrence is possible or the postoperative appearance of conditions called compensatory hyperhidrosis or reflex hyperhidrosis. We describe two cases of patients treated with Cannabidiol who had significant and unexpected improvement of hyperhidrosis. The first patient received Cannabidiol specific for public presentations at work, and the second patient had a diagnosis of autism spectrum disorder. The hyperhidrosis improved in both patients immediately after using Cannabidiol.

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7. Robles M, Namdarian N, Otto J, Wassiljew E, Navab N, Falter-Wagner C, Roth D. A Virtual Reality Based System for the Screening and Classification of Autism. IEEE transactions on visualization and computer graphics. 2022; 28(5): 2168-78.

Autism – also known as Autism Spectrum Disorders or Autism Spectrum Conditions – is a neurodevelopmental condition characterized by repetitive behaviours and differences in communication and social interaction. As a consequence, many autistic individuals may struggle in everyday life, which sometimes manifests in depression, unemployment, or addiction. One crucial problem in patient support and treatment is the long waiting time to diagnosis, which was approximated to thirteen months on average. Yet, the earlier an intervention can take place the better the patient can be supported, which was identified as a crucial factor. We propose a system to support the screening of Autism Spectrum Disorders based on a virtual reality social interaction, namely a shopping experience, with an embodied agent. During this everyday interaction, behavioral responses are tracked and recorded. We analyze this behavior with machine learning approaches to classify participants from an autistic participant sample in comparison to a typically developed individuals control sample with high accuracy, demonstrating the feasibility of the approach. We believe that such tools can strongly impact the way mental disorders are assessed and may help to further find objective criteria and categorization.

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8. Roselló Miranda B, Mira Gadea Á, García Castellar R, Miranda Casas A. [Diagnostic stability of children with autism spectrum disorder in adolescence (ASD). Executive, socio-adaptive and behavioral functioning]. Medicina. 2022; 82 Suppl 1: 43-7.

The characteristics of individuals with persistent ASD (ASD-P) and remittent ASD (ASD-R) are little known. This longitudinal study had three objectives 1) To determine the persistence and recovery in children with autism spectrum disorder diagnosis in adolescence: 2) To compare executive functioning (EF), socio-adaptive and behavioral manifestations of ASD-P and ASD-R adolescents; and 3) to identify the percentage of normalized individuals in ADS-P and ADS-R groups in EF, socio-adaptive and behavioral manifestation in childhood and adolescence. The sample at T1 was comprised of 45 children with ASD (aged 7-11), maintaining 32 ASD diagnosis five years later. Parents and teachers completed questionnaires on EF, theory of mind, socio-adaptive and behavior difficulties, at both time points. The ASD-P group presented significantly more problems than group ASD-Rand showed worst evolution in EF, socio-adaptive and behavioral domains. Our findings highlight the variability of developmental trajectories of children with ASD.

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9. Ruggieri V, Arberas C. [Epigenetic mechanisms involved in the genesis of autism]. Medicina. 2022; 82 Suppl 1: 48-53.

Autism is a neurobiological developmental disorder characterized by poor social interaction and communication, narrow interests, and stereotyped behaviors. It has been associated with disorders of synaptogenesis and multiple etiologies. The identification of the epigenetic factors involved in the genesis of autism allows a better understanding of the molecular mechanisms involved. Our objective was to analyze the epigenetic mechanisms related to the development of autism, specifying specific entities and their pathophysiological mechanisms. We analyze how DNA methylation disorders, histone modification, remodeling and chromosomal regulation mediated by non-coding RNA are related to various genetic syndromes such as fragile X, Rett, Pathias Mecp2, Phelam McDermid, prenatal toxins such as alcohol, valproic. acid, cannabis, and environmental toxins such as maternal stress, all associated with a higher prevalence of autism. In conclusion: the recognition of these mechanisms opens up new possibilities for prevention and it is likely that, in genetic entities, it will allow the development of specific treatments with modifications tailored to each entity.

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10. Travers BG, Lee L, Klans N, Engeldinger A, Taylor D, Ausderau K, Skaletski EC, Brown J. Associations Among Daily Living Skills, Motor, and Sensory Difficulties in Autistic and Nonautistic Children. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2022; 76(2).

IMPORTANCE: Motor and sensory challenges are commonly reported among autistic individuals and have been linked to challenges with daily living skills (DLS). To best inform clinical intervention, greater specificity in how sensory and motor challenges relate to DLS is needed. OBJECTIVE: To evaluate the relationship between combined sensory and motor scores and DLS performance among autistic and nonautistic children and to explore associations between motor scores and performance on specific DLS items. DESIGN: Descriptive design. SETTING: University research lab. PARTICIPANTS: Autistic children, nonautistic children with no family history of or diagnosis related to autism, and nonautistic children with a family history of or diagnosis related to autism (ages 6-10 yr; N = 101). All participants communicated verbally. INTERVENTION: None. Outcomes and Measures: Parent-report measures of DLS and sensory features and standardized assessments of motor performance. RESULTS: Findings indicated a strong relationship between motor difficulties and all domains of DLS. At the item level, motor skills were associated with occupations of dressing, bathing, health management, cleaning up and organization, meal preparation and clean-up, education, and safety. Combined sensory and motor measures better predicted DLS than sensory or motor measures alone. CONCLUSIONS AND RELEVANCE: Children with motor and sensory challenges are likely to experience challenges with a diversity of occupations, which is important given the prevalence of motor and sensory challenges among autistic children and among children with other neurodevelopmental conditions. Therapeutic interventions that account for or address these motor challenges and associated sensory features are likely to further enhance DLS. What This Article Adds: A combination of motor challenges and sensory features better predict DLS than either motor or sensory challenges alone. In addition, motor challenges in children are most highly associated with DLS challenges in the domains of dressing, bathing, cleaning, education, safety, health, and meal preparation. Occupational therapists can use this information when considering how the results of sensory and motor assessment may guide clinical intervention in autistic and nonautistic children.

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11. Wiggins LD, Nadler C, Hepburn S, Rosenberg S, Reynolds A, Zubler J. Toileting Resistance Among Preschool-Age Children with and Without Autism Spectrum Disorder. Journal of developmental and behavioral pediatrics : JDBP. 2022; 43(4): 216-23.

OBJECTIVE: Children with autism spectrum disorder (ASD) may achieve continence later than other children. Little is known about factors associated with toileting resistance in children with ASD and other developmental delays/disabilities (DD). We sought to describe toileting resistance in children with ASD and DD and those from the general population (POP) and identify factors associated with toileting resistance in children with ASD and DD. METHOD: Families and children aged 24 to 68 months were enrolled in the Study to Explore Early Development, a multisite case-control study on ASD. Children with ASD (N = 743) and DD (N = 766) and those from the POP (N = 693) who were 48 months or older were included in this study. Parents reported toileting resistance, gastrointestinal issues, behavior problems, and ASD symptoms in their children. Children completed an in-person evaluation to determine ASD status and developmental level. RESULTS: Toileting resistance was more common among children with ASD (49.1%) than children with DD (23.6%) and those from the POP (8.0%). Diarrhea and deficits in social awareness were significantly associated with toileting resistance in children with ASD and DD. Constipation, expressive language delays, and low social motivation were significantly associated with toileting resistance only in children with ASD; very low visual reception skills and oppositional behaviors were significantly associated with toileting resistance in only children with DD (all p ≤ 0.05). CONCLUSION: Evaluating gastrointestinal issues, developmental delays, and social deficits before toileting training may help identify children with atypical development who are likely to present with toileting resistance. These evaluations can be incorporated into health supervision visits.

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12. Wigham S, Ingham B, Le Couteur A, Wilson C, Ensum I, Parr JR. A survey of autistic adults, relatives and clinical teams in the United Kingdom: And Delphi process consensus statements on optimal autism diagnostic assessment for adults. Autism : the international journal of research and practice. 2022: 13623613211073020.

Living with undiagnosed autism can be distressing and may affect mental health. A diagnosis of autism can help self-awareness and self-understanding. However, it can be difficult for adults to access an autism assessment. Clinicians also sometimes find it hard to identify autism in adults. This may mean an autism diagnosis is delayed or missed. In this study, we asked autistic adults, relatives and clinicians how to improve this. The study was in two stages. In the first stage (stage 1), 343 autistic adults and 45 relatives completed a survey. In the survey, we asked questions about people’s experiences of UK autism assessment services for adults. Thirty-five clinicians completed a similar survey. Clinicians reported that some autism assessment teams lacked key professionals, for example, psychologists and occupational therapists. We used the information from the three separate surveys to create 13 statements describing best autism assessment services for adults. In stage 2, we asked clinicians for their views on the 13 statements. Clinicians agreed with 11 of the statements. Some autistic adults, relatives and clinicians were positive about autism assessment services, and many also described areas that could be improved. The study findings can be used to improve UK adult autism assessment services and may be helpful for service developments worldwide.

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13. Zhu Y, Gomez JA, Laufer BI, Mordaunt CE, Mouat JS, Soto DC, Dennis MY, Benke KS, Bakulski KM, Dou J, Marathe R, Jianu JM, Williams LA, Gutierrez Fugón OJ, Walker CK, Ozonoff S, Daniels J, Grosvenor LP, Volk HE, Feinberg JI, Fallin MD, Hertz-Picciotto I, Schmidt RJ, Yasui DH, LaSalle JM. Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism. Genome biology. 2022; 23(1): 46.

BACKGROUND: Autism spectrum disorder (ASD) involves complex genetics interacting with the perinatal environment, complicating the discovery of common genetic risk. The epigenetic layer of DNA methylation shows dynamic developmental changes and molecular memory of in utero experiences, particularly in placenta, a fetal tissue discarded at birth. However, current array-based methods to identify novel ASD risk genes lack coverage of the most structurally and epigenetically variable regions of the human genome. RESULTS: We use whole genome bisulfite sequencing in placenta samples from prospective ASD studies to discover a previously uncharacterized ASD risk gene, LOC105373085, renamed NHIP. Out of 134 differentially methylated regions associated with ASD in placental samples, a cluster at 22q13.33 corresponds to a 118-kb hypomethylated block that replicates in two additional cohorts. Within this locus, NHIP is functionally characterized as a nuclear peptide-encoding transcript with high expression in brain, and increased expression following neuronal differentiation or hypoxia, but decreased expression in ASD placenta and brain. NHIP overexpression increases cellular proliferation and alters expression of genes regulating synapses and neurogenesis, overlapping significantly with known ASD risk genes and NHIP-associated genes in ASD brain. A common structural variant disrupting the proximity of NHIP to a fetal brain enhancer is associated with NHIP expression and methylation levels and ASD risk, demonstrating a common genetic influence. CONCLUSIONS: Together, these results identify and initially characterize a novel environmentally responsive ASD risk gene relevant to brain development in a hitherto under-characterized region of the human genome.

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