Identifying Autistic-Like Symptoms in Children with ADHD: A Comparative Study Using ADOS-2.

Purpose: Recent literature has focused attention on the presence of autistic-like symptoms in children with Attention Deficit/Hyperactivity Disorder (ADHD), who often exhibit social difficulties, posing challenges for a distinct clinical diagnosis. The current study aimed to identify the specific pattern of autistic symptoms in subjects with ADHD or Autistic Spectrum Disorder (ASD), examining similarities or differences at both the domain and individual item levels. Patients and Methods: In this study, we enrolled 43 school-age children divided into the following: the ADHD group (n=25) consisted of children initially referred for ASD symptoms but subsequently clinically diagnosed with ADHD, and the ASD group consisted of 18 children with ASD. We used the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2), to examine relative differences in the presence of symptoms such as deficits in communication and social interaction, and restricted and repetitive behaviors in these two groups. Comparison between groups was conducted to explore differences in IQ, age, ADOS-2 domains, and externalizing and internalizing problems among the groups. Results: We found significant differences between the groups when comparing summary scores of ADOS-2 domains (Social Affect, Restricted and Repetitive Behavior, and Total Score). Interestingly, at the individual item level, the ADHD group exhibited a similar level of atypical behaviors compared to the ASD group in two items related to the social-communication area: "Pointing" and "Gestures". Additionally, the frequencies of "Stereotyped/idiosyncratic words or phrases", "Mannerisms", and "Repetitive interests and behaviors" also showed similarities between groups. Conclusion: These findings indicate the importance of exploring and developing potential transdiagnostic domains that could be targeted for treatments specifically designed for children with ADHD.

The clinical characteristics of autistic women with restrictive eating disorders.

BACKGROUND: Autistic women are at high risk of developing restrictive eating disorders (REDs), such as anorexia nervosa. AIMS: This study provides an overview of the clinical characteristics of autistic women with REDs to (i) enhance understanding of increased risk, and (ii) support the identification of autistic women in eating disorder services. METHOD: We compared self-reported autistic and disordered eating characteristics of: autistic participants with REDs (Autism + REDs; n = 57); autistic participants without REDs (Autism; n = 69); and women with REDs who are not autistic (REDs; n = 80). We also included a group of women with high autistic traits (HATs) and REDs, but no formal autism diagnosis (HATs + REDs; n = 38). RESULTS: Autism + REDs participants scored similarly to Autism participants in terms of autistic characteristics and to REDs participants in terms of experiencing traditional disordered eating symptoms. Autism + REDs participants were distinguished from both groups by having more restricted and repetitive behaviours and autism-specific eating behaviours related to sensory processing, flexibility and social differences. HATs + REDs participants showed a similar pattern of scores to Autism + REDs participants, and both also presented with high levels of co-occurring mental health difficulties, particularly social anxiety. CONCLUSION: The presentation of autistic women with REDs is complex, including both traditional disordered eating symptoms and autism-related needs, as well as high levels of co-occurring mental health difficulties. In eating disorder services, the REDs presentation of autistic women and those with HATs should be formulated with reference to autism-specific eating behaviours and co-occurring difficulties. Treatment adaptations should be offered to accommodate autistic characteristics and related needs.

Psychometric Properties of the Chinese Version of the Core Symptom Index: A Study among Chinese Parents of Children with Autistic Spectrum Disorders.

(1) Background: Parents of children with autism spectrum disorders often experience psychological distress, which can affect the quality of childcare they provide. It is crucial to screen for psychiatric symptoms among these parents. The core symptom index (CSI) is a widely recognized tool used to assess general symptoms, including depression, anxiety, and somatic issues. It has proven validity and reliability across diverse Thai populations. Given the cultural similarities between Thai and Chinese populations, the CSI has been successfully implemented within the Chinese population. Nevertheless, it is crucial to research its validity and reliability in the general Chinese population. This study aimed to investigate the psychometric properties of the Chinese version of the CSI among parents of children with autism spectrum disorders using confirmatory factor analysis (CFA). (2) Methods: A total of 794 Chinese parents raising children with autism participated in this study. All completed the CSI, along with the social inhibition subscale of the Interpersonal Problems Inventory and the Couple Satisfaction Index. Factorial validity was assessed using CFA to determine how well the bifactor three-factor model fits the data. Various structural models were compared using model fit indices. Convergent and discriminant validity were examined by exploring correlations with the social inhibition subscale and the Couple Satisfaction Index. Invariance testing of the CSI was conducted across multiple groups based on gender, age, and education using CFA. The reliability of the CSI was evaluated using McDonald's omega coefficients. (3) Results: The bifactor model emerged as the best-fitting model for the data, suggesting that the total score of the CSI adequately represents overall psychiatric symptoms. The CSI exhibited significant correlations with the social inhibition subscale (r = 0.41, p < 0.01) and smaller correlation coefficients with the Couple Satisfaction Index (r = -0.16, p < 0.05), indicating both convergent and discriminant validity. The invariant test results support scalar invariance levels based on gender and age but only partial invariance for education. The Chinese version of the CSI demonstrated high consistency, with McDonald's omega coefficients ranging between 0.86 and 0.95. (4) Conclusions: The bifactor model of the Chinese version of the CSI is validated, making it a suitable tool for measuring depression, anxiety, and somatization symptoms among parent(s) of children with autism spectrum disorders. Further research on other Chinese populations is encouraged.

Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism.

Autistic spectrum disorders (ASD) in children are becoming increasingly common, reaching epidemic proportions. Among the various causes contributing to the development of ASD, the leading place belongs to both chromosomal pathologies and genetic syndromes and their consequence - metabolic imbalance or severe metabolic disorders. Depending on the degree of metabolic pathway damage, certain phenotypes of ASD are formed. A deletion of ~3.1 Mb of chromosome 15q24 was detected in the examined 2-year-old boy with a "mild phenotype" of autism without an obvious delay in mental development. A wide range of additional studies included genetic testing of folate metabolism genes and analysis of metabolites of the methylation cycle and detection of antibodies to folic acid alpha receptors. A heterozygous variant of the MTHFR gene (rs1801133), moderate hyperhomocysteinemia, hypermethylation, and an increased titer of antibodies to alpha receptors of folic acid were revealed in the patient. This clinical case indicates the need for a multifaceted clinical and laboratory examination in children with ASD to identify the metabolic phenotype and prescribe personalized treatment. A personalized treatment strategy will improve the cognitive functions, psycho-emotional state, and social adaptation of individuals with ASD in the long term."

Gender bias in autism screening: measurement invariance of different model frameworks of the Autism Spectrum Quotient.

BACKGROUND: The Autism Spectrum Quotient is a popular autism screening tool recommended for identifying potential cases of autism. However, many women with autism demonstrate a different presentation of traits to those currently captured by screening measures and assessment methods, such as the Autism Spectrum Quotient. AIMS: Different models of the Autism Spectrum Quotient have been proposed in the literature, utilising different items from the original 50-item scale. Within good-fitting models, the current study aimed to explore whether these items assess autistic traits similarly across men and women. METHOD: Seventeen Autism Spectrum Quotient models were identified from the literature. Using the responses of a large sample of adults from the UK general population (5246 women, 1830 men), confirmatory factor analysis was used to evaluate the fit of each model. Measurement invariance with respect to gender, adjusting for age, was explored in the 11 model frameworks that were found to have satisfactory fit to our data. RESULTS: It emerged that only two items were gender invariant (non-biased), whereas for the remaining items, the probability of endorsement was influenced by gender. In particular, women had a higher probability of endorsing items relating to social skills and communication. CONCLUSIONS: If the items of the Autism Spectrum Quotient indeed reflect autism-related traits, those items should be rephrased to ensure they do not present a gender-related bias. This is vital for ensuring more timely diagnoses and support for all people with autism.

Perfil de personalidad en el trastorno del espectro autista mediante el Inventario Multifásico de Personalidad de Minnesota / Personality profiles in autism spectrum disorder obtained with the Minnesota Multiphasic Personality Inventory (MMPI)

Desde la publicación de DSM-5, se ha vuelto más importante llevar a cabo un diagnóstico diferencial para distinguir a las personas con TEA de los trastornos de personalidad del grupo C. El objetivo de la presente investigación fue identificar un perfil de personalidad de sujetos con trastorno del espectro autista (TEA) utilizando el Inventario de Personalidad Multifásico de Minnesota (MMPI) para llevar a cabo dicho diagnóstico diferencial. La muestra del estudio consistió en un total de 178 sujetos divididos en cuatro grupos de comparación. El grupo TEA obtuvo un perfil de personalidad MMPI con un código característico 2-0 que era específico para esta muestra de personas con TEA leve, y puntuaciones más altas en las escalas 6, 7 y 8 en relación con las otras puntuaciones de la escala. Se identificó un perfil de personalidad MMPI específico para los sujetos con TEA que diferenció a este grupo de los otros grupos estudiados. (AU)

Since the publication of DSM-5, it has become more important to carry out a differential diagnosis to distinguish people with autism spectrum disorder (ASD) from cluster C personality disorders. The aim of the present research study was to identify a personality profile of adults with ASD using the Minnesota Multiphasic Personality Inventory (MMPI) in order to carry out this differential diagnosis. The study sample consisted of a total of 178 subjects divided into four groups for comparison purposes. The ASD group obtained a MMPI personality profile with a characteristic 2-0 code that was specific to this sample of people with mild ASD, and higher scores in scales 6, 7 and 8 relative to the other scale scores. A specific MMPI personality profile was identified for ASD subjects, which differentiated this group from the other groups studied. (AU)

A response to the terms in Shah et al's 'Neurodevelopmental disorders and neurodiversity: definition of terms from Scotland's National Autism Implementation Team'.

The Scottish National Autism Implementation Team's neurodiversity terms are a valiant, but flawed, attempt to reconcile different worldviews on neurodiversity. The aim of harmonising different perspectives is laudable; however, we disagree with the use of 'societal norms' in the authors' framework of terms and challenge some of their proposed definitions.

Participação de Crianças com Desenvolvimento Típico e Com Transtornos do Espectro Autista em Situações de Brincadeiras na Educação Infantil, / Participation of Children with Typical Development and with Autistic Spectrum Disorders in Play Situations in Early Childhood Education

RESUMO: O brincar infantil é reconhecido como ocupação que favorece o desenvolvimento e a autonomia das crianças. Estudos realizados com crianças com Transtorno do Espectro Autista (TEA) evidenciaram comprometimentos na participação no brincar. Este estudo objetivou descrever a participação de crianças com desenvolvimento típico e com TEA em situações de brincadeiras no contexto da Educação Infantil. Tratou-se de um estudo de abordagem qualitativa do tipo exploratória e descritiva que empregou a observação do comportamento do brincar na escola como instrumento de coleta de dados. Participaram da pesquisa seis crianças entre 4 e 5 anos, sendo três com desenvolvimento típico e três diagnosticadas com TEA. Embora o estudo não tenha tido a intenção de estabelecer comparações, os principais resultados apontaram diferenças entre os dois grupos. Crianças com TEA evidenciaram desenvolvimento do comportamento lúdico não condizente com a idade e um brincar concreto e com interação social ausente ou rudimentar. Esses resultados apontam para reflexões no contexto da Terapia Ocupacional para o desenvolvimento de estratégias que visem a participação das crianças na Educação Infantil, indicando a necessidade de promoção de oportunidades mediadas e/ou com brinquedos adaptados de acordo com os interesses das crianças com TEA.

ABSTRACT: Children's play is recognized as an occupation that favors children's development and autonomy. Studies carried out with children with Autistic Spectrum Disorder (ASD) showed impairments in participation in playing. This study aimed to describe the participation of children with typical development and with ASD in play situations in the context of Early Childhood Education. It was an exploratory and descriptive qualitative study that used the observation of playing behavior in school as an instrument of data collection. Six children between 4 and 5 years old participated in the research, three with typical development and three diagnosed with ASD. Although the study was not intended to make comparisons, the main results showed differences between the two groups. Children with ASD showed development of playful behavior not consistent with age and concrete play with absent or rudimentary social interaction. These results point to reflections in the context of Occupational Therapy for the development of strategies aimed at the participation of children in Early Childhood Education, indicating the need to promote mediated opportunities and/or with toys adapted according to the interests of children with ASD.

Development of Moral Judgments in Impersonal and Personal Dilemmas in Autistic Spectrum Disorders from Childhood to Late Adolescence.

A potential underlying mechanism associated with the difficulties in social interactions in Autistic Spectrum Disorders (ASD) concerns the abnormal development of moral reasoning. The present study examined utilitarian and deontological judgments in impersonal and personal moral dilemmas, comparing 66 individuals with ASD and 61 typically developing (TD) individuals between 6 and 18 years. Utilitarian judgments decreased with age. This decline was much more gradual for personal dilemmas in the ASD than in the TD group. ASD individuals rated utilitarian judgments as more appropriate but felt less calm, consistent with the Empathy Imbalance hypothesis. Utilitarian judgments were associated with social interaction difficulties in ASD. These findings identify possible social therapeutic targets for more efficient coping strategies in individuals with ASD.

CES1 and SLC6A2 Genetic Variants As Predictors of Response To Methylphenidate in Autism Spectrum Disorders.

Purpose: Autistic spectrum disorders (ASD) children and adolescents usually present comorbidities, with 40-70% of them affected by attention deficit hyperactivity disorders (ADHD). The first option of pharmacological treatment for these patients is methylphenidate (MPH). ASD children present more side effects and poorer responses to MPH than ADHD children. The objective of our study is to identify genetic biomarkers of response to MPH in ASD children and adolescents to improve its efficacy and safety. Patients and Methods: A retrospective study with a total of 140 ASD children and adolescents on MPH treatment was included. Fifteen polymorphisms within genes coding for the MPH target NET1 (SLC6A2) and for its primary metabolic pathway (CES1) were genotyped. Multivariate analyses including response phenotypes (efficacy, side-effects, presence of somnolence, irritability, mood alterations, aggressivity, shutdown, other side-effects) were performed for every polymorphism and haplotype. Results: Single marker analyses considering gender, age, and dose as covariates showed association between CES1 variants and MPH-induced side effects (rs2244613-G (p=0.04), rs2302722-C (p=0.02), rs2307235-A (p=0.03), and rs8192950-T alleles (p=0.03)), and marginal association between the CES1 rs2302722-C allele and presence of somnolence (p=0.05) and the SLC6A2 rs36029-G allele and shutdown (p=0.05). A CES1 haplotype combination was associated with efficacy and side effects (p=0.02 and 0.03 respectively). SLC6A2 haplotype combination was associated with somnolence (p=0.05). Conclusion: CES1 genetic variants may influence the clinical outcome of MPH treatment in ASD comorbid with ADHD children and adolescents.

Factors influencing resilience of parents with children with neurodevelopmental disorders: The role of structural language, social cognition, and social support.

Background: Resilience allows a more positive coping and improves parents' wellbeing when they face a difficult situation like having a child with a neurodevelopmental disorder (NDD). We aim to analyze the development of resilience in parents of children with different NDD (ASD, DLD and ADHD) with different levels of structural language and social cognition, as well as the social support available for their families, and compare it to children with typical development (TD). Method: We analyzed the level of resilience of 156 parents, 73 with children with TD and 73 with three different NDD, taking into account variables such as age, structural language (receptive grammar) and social cognition (emotional understanding) of the children, and also the type of social support available to them. Results: Children with DLD and ASD showed lower receptive grammar and emotional comprehension skills, although only parents of children with ASD obtained better resilience scores. Moreover, age of children and formal support variables predicted the resilience of the parents according to the type of NDD. Discussion: The severity of social cognition and structural language difficulties of children with NDD and the fact of having support from professionals and family associations have a significant influence on the development of parental resilience.

A bibliometric analysis of research trends of artificial intelligence in the treatment of autistic spectrum disorders.

Objective: Autism Spectrum Disorder (ASD) is a serious neurodevelopmental disorder that has become the leading cause of disability in children. Artificial intelligence (AI) is a potential solution to this issue. This study objectively analyzes the global research situation of AI in the treatment of ASD from 1995 to 2022, aiming to explore the global research status and frontier trends in this field. Methods: Web of Science (WoS) and PubMed databese were searched for Literature related to AI on ASD from 1995 to April 2022. CiteSpace, VOSviewer, Pajek and Scimago Graphica were used to analyze the collaboration between countries/institutions/authors, clusters and bursts of keywords, as well as analyses on references. Results: A total of 448 literature were included, the total number of literature has shown an increasing trend. The most productive country and institution were the USA, and Vanderbilt University. The authors with the greatest contributions were Warren, Zachary, Sakar, Nilanjan and Swanson, Amy. the most prolific and cited journal is Journal of Autism and Developmental Disorders, the highest cited and co-cited articles were Dautenhahn (Socially intelligent robots: dimensions of human-robot interaction 2007) and Scassellati B (Robots for Use in Autism Research 2012). "Artificial Intelligence", "Brain Computer Interface" and "Humanoid Robot" were the hotspots and frontier trends of AI on ASD. Conclusion: The application of AI in the treatment of ASD has attracted the attention of researchers all over the world. The education, social function and joint attention of children with ASD are the most concerned issues for global researchers. Robots shows gratifying advantages in these issues and have become the most commonly used technology. Wearable devices and brain-computer interface (BCI) were emerging AI technologies in recent years, which is the direction of further exploration. Restoring social function in individuals with ASD is the ultimate aim and driving force of research in the future.

Genetic and Epigenetic Regulation of Brain Organoids.

Revealing the mechanisms of neural development and the pathogenesis of neural diseases are one of the most challenging missions in life science. Pluripotent stem cells derived brain organoids mimic the development, maturation, signal generation, and function of human brains, providing unique advantage for neurology. Single-cell RNA sequencing (scRNA-Seq) and multielectrode array independently revealed the similarity between brain organoids and immature human brain at early developmental stages, in the context of gene transcription and dynamic network of neuronal signals. Brain organoids provided the unique opportunity to investigate the underlying mechanism of neural differentiation, senescence, and pathogenesis. In this review, we summarized the latest knowledge and technology in the brain organoid field, the current and potential applications in disease models and pre-clinic studies, with emphasizing the importance of transcriptional and epigenetic analysis.

Different Alterations in Gut Microbiota between Bifidobacterium longum and Fecal Microbiota Transplantation Treatments in Propionic Acid Rat Model of Autism.

Autism spectrum disorders (ASD) consist of a range of neurodevelopmental conditions accompanied by dysbiosis of gut microbiota. Therefore, a number of microbiota manipulation strategies were developed to restore their balance. However, a comprehensive comparison of the various methods on gut microbiota is still lacking. Here, we evaluated the effect of Bifidobacterium (BF) treatment and fecal microbiota transplantation (FT) on gut microbiota in a propionic acid (PPA) rat model of autism using 16S rRNA sequencing. Following PPA treatment, gut microbiota showed depletion of Bacteroidia and Akkermansia accompanied by a concomitant increase of Streptococcus, Lachnospiraceae, and Paraeggerthella. The dysbiosis was predicted to cause increased levels of porphyrin metabolism and impairments of acyl-CoA thioesterase and ubiquinone biosynthesis. On the contrary, BF and FT treatments resulted in a distinct increase of Clostridium, Bifidobacterium, Marvinbryantia, Butyricicoccus, and Dorea. The taxa in BF group positively correlated with vitamin B12 and flagella biosynthesis, while FT mainly enriched flagella biosynthesis. In contrast, BF and FT treatments negatively correlated with succinate biosynthesis, pyruvate metabolism, nitrogen metabolism, beta-Lactam resistance, and peptidoglycan biosynthesis. Therefore, the present study demonstrated that BF and FT treatments restored the PPA-induced dysbiosis in a treatment-specific manner.

Intervenciones tecnológicas adaptativas para el trastorno del espectro autista: una revisión bibliográfica / Adaptive technological interventions for autism spectrum disorder: a literature review

Resumen Los individuos con trastornos del espectro autista suelen describirse con deficiencias comunicativas, sociales, emocionales y de comportamiento. A menudo están aislados y son pasivos, con pocas oportunidades de interacción positiva y constructiva con el mundo exterior. Por otra parte, pueden mostrar comportamientos retraídos, estereotipados y disruptivos. Estas condiciones pueden dificultar seriamente sus habilidades adaptativas al ambiente, con consecuencias negativas en su calidad de vida. La heterogeneidad fenotípica y la manifestación, así como la gravedad de los síntomas, pueden variar considerablemente según el niño. Esos determinan la necesidad de intervenciones personalizadas y adaptivas según las necesidades específicas, incluyendo factores como la edad, las habilidades intelectuales y las áreas afectadas específicas. Una intervención temprana promovería las habilidades adaptativas, la autodeterminación y la autonomía hacia el entorno. No obstante, los tiempos de esperas y los costes no permiten una evaluación temprana y como consecuencia los tiempos de intervención se retrasan afectando la cualidad de vida de los niños y de los pa dres. Además, los programas tradicionales de intervención dependen de la experiencia de los terapeutas. Una posible forma de superar este problema es el uso de tecnología adaptativa objetiva según las necesidades. El objetivo de este artículo es proporcionar una visión general de las pruebas empíricas disponible en los últimos siete años. En total, se seleccionaron 8 estudios, con 132 participantes que utilizaron 4 sistemas tecnológicos. Por último, se discuten las implicaciones tecnológicas, clínicas, psicológicas y rehabilitadoras de los hallazgos. Se esbozaron directrices prácticas dentro de esta área temática como perspectivas de investigación futuras.

Abstract Individuals with autistic spectrum disorder are often described as having communication, social, emo tional, and 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.

Genetic and early environmental predictors of adulthood self-reports of trauma.

BACKGROUND: Retrospective self-reports of childhood trauma are associated with a greater risk of psychopathology in adulthood than prospective measures of trauma. Heritable reporter characteristics are anticipated to account for part of this association, whereby genetic predisposition to certain traits influences both the likelihood of self-reporting trauma and of developing psychopathology. However, previous research has not considered how gene-environment correlation influences these associations. AIMS: To investigate reporter characteristics associated with retrospective self-reports of childhood trauma and whether these associations are accounted for by gene-environment correlation. METHOD: In 3963 unrelated individuals from the Twins Early Development Study, we tested whether polygenic scores for 21 psychiatric, cognitive, anthropometric and personality traits were associated with retrospectively self-reported childhood emotional and physical abuse. To assess the presence of gene-environment correlation, we investigated whether these associations remained after controlling for composite scores of environmental adversity across development. RESULTS: Retrospectively self-reported childhood trauma was associated with polygenic scores for autism spectrum disorder (ASD), body mass index (BMI), post-traumatic stress disorder (PTSD) and risky behaviours. When composite scores of environmental adversity were controlled for, only associations with the polygenic scores for ASD and PTSD remained significant. CONCLUSIONS: Genetic predisposition to ASD and PTSD may increase liability to experiencing or interpreting events as traumatic. Associations between genetic predisposition for risky behaviour and BMI with self-reported childhood trauma may reflect gene-environment correlation. Studies of the association between retrospectively self-reported childhood trauma and later-life outcomes should consider that genetically influenced reporter characteristics may confound associations, both directly and through gene-environment correlation.

A full CIRCLE: inclusion of autistic doctors in the Royal College Of Psychiatrists' values and Equality Action Plan.

Autistic psychiatrists bring strengths and values to the workforce and ask to be acknowledged and supported as part of the Royal College of Psychiatrists' CIRCLE values and Equality Action Plan. Courage and collaboration are required to jointly learn and innovate, promoting well-being, resilience and excellence for autistic doctors.

[Adaptive technological interventions for autism spectrum disorder: a literature review]. / Intervenciones tecnológicas adaptativas para el trastorno del espectro autista: una revisión bibliográfica.

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.

Los individuos con trastornos del espectro autista suelen describirse con deficiencias comunicativas, sociales, emocionales y de comportamiento. A menudo están aislados y son pasivos, con pocas oportunidades de interacción positiva y constructiva con el mundo exterior. Por otra parte, pueden mostrar comportamientos retraídos, estereotipados y disruptivos. Estas condiciones pueden dificultar seriamente sus habilidades adaptativas al ambiente, con consecuencias negativas en su calidad de vida. La heterogeneidad fenotípica y la manifestación, así como la gravedad de los síntomas, pueden variar considerablemente según el niño. Esos determinan la necesidad de intervenciones personalizadas y adaptivas según las necesidades específicas, incluyendo factores como la edad, las habilidades intelectuales y las áreas afectadas específicas. Una intervención temprana promovería las habilidades adaptativas, la autodeterminación y la autonomía hacia el entorno. No obstante, los tiempos de esperas y los costes no permiten una evaluación temprana y como consecuencia los tiempos de intervención se retrasan afectando la cualidad de vida de los niños y de los padres. Además, los programas tradicionales de intervención dependen de la experiencia de los terapeutas. Una posible forma de superar este problema es el uso de tecnología adaptativa objetiva según las necesidades. El objetivo de este artículo es proporcionar una visión general de las pruebas empíricas disponible en los últimos siete años. En total, se seleccionaron 8 estudios, con 132 participantes que utilizaron 4 sistemas tecnológicos. Por último, se discuten las implicaciones tecnológicas, clínicas, psicológicas y rehabilitadoras de los hallazgos. Se esbozaron directrices prácticas dentro de esta área temática como perspectivas de investigación futuras.

The epilepsy-autism spectrum disorder phenotype in the era of molecular genetics and precision therapy.

Autism spectrum disorder (ASD) is frequently associated with infants with epileptic encephalopathy, and early interventions targeting social and cognitive deficits can have positive effects on developmental outcome. However, early diagnosis of ASD among infants with epilepsy is complicated by variability in clinical phenotypes. Commonality in both biological and molecular mechanisms have been suggested between ASD and epilepsy, such as occurs with tuberous sclerosis complex. This review summarizes the current understanding of causal mechanisms between epilepsy and ASD, with a particularly genetic focus. Hypothetical explanations to support the conjugation of the two conditions include abnormalities in synaptic growth, imbalance in neuronal excitation/inhibition, and abnormal synaptic plasticity. Investigation of the probable genetic basis has implemented many genes, although the main risk supports existing hypotheses in that these cluster to abnormalities in ion channels, synaptic function and structure, and transcription regulators, with the mammalian target of rapamycin (mTOR) pathway and "mTORpathies" having been a notable research focus. Experimental models not only have a crucial role in determining gene functions but are also useful instruments for tracing disease trajectory. Precision medicine from gene therapy remains a theoretical possibility, but more contemporary developments continue in molecular tests to aid earlier diagnoses and better therapeutic targeting.