Resumen: Este estudio buscó evaluar los aportes de un entrenamiento parental híbrido realizado con ocho madres de niños preescolares con trastorno del espectro autista basado en la ciencia del análisis aplicado de la conducta para la reducción del estrés parental. Se llevó a cabo la construcción e implementación de un entrenamiento parental híbrido. Se dividió la muestra en grupo de tratamiento y control, y se realizaron comparaciones del nivel de estrés en el período pre/postintervención, así como el análisis de la práctica directa con el niño en un cara a cara con el grupo de tratamiento. Los resultados obtenidos demuestran que las madres del grupo de tratamiento reaccionaron positivamente a los videos y materiales presentados; sin embargo, no se observaron diferencias estadísticas significativas que sugieran una reducción en el nivel de estrés entre los dos grupos. Las limitaciones del estudio fueron el pequeño tamaño de la muestra y el hecho de que los niños de ambos grupos continuaron recibiendo tratamiento de terapia intensiva durante la implementación de la capacitación de los padres.

Resumo: Este estudo buscou avaliar as contribuições de um treinamento parental híbrido realizado com oito mães de crianças pré-escolares com transtorno do espectro do autismo baseado na ciência da análise do comportamento aplicada para a redução do estresse parental. Foi realizado a construção e implementação do treinamento parental híbrido. A amostra foi dividida em grupo tratamento e controle. Em termos de análise de dados, foram feitas comparações do nível de estresse no período pré/pós-intervenção, assim como a análise de uma prática direta com a criança de forma presencial com o grupo tratamento. Os resultados obtidos demonstraram que as mães do grupo tratamento reagiram positivamente com as vídeos e materiais apresentados. No entanto, não foi observado diferenças estatísticas significativas para sugerir a redução do nível de estresse entre os dois grupos. As limitações do estudo foram o tamanho reduzido da amostra e o fato das crianças de ambos os grupos continuarem recebendo o tratamento em terapia intensiva durante a aplicação do treinamento parental.

Abstract: This study sought to evaluate the contributions of a hybrid parental training carried out with eight mothers of preschool children with autism spectrum disorder, based on the science of applied behavioral analysis for reducing parental stress. The hybrid parental training was constructed and implemented by the researchers. The sample was divided into two groups: a Treatment Group and a Control Group. In the data analysis, comparisons were made of the levels of stress pre- and post-intervention and for the treatment group, direct practice with the child in a face-to-face environment was also analyzed. The results showed that the mothers in the treatment group reacted positively to the video and materials presented; however, no significant statistical differences were found that would suggest a reduction in stress levels between the two groups as a result of the training given. The limitations of the study were its small sample size and the fact that the children in both groups continued to receive intensive therapy treatment during the application of the parental training.

Abstract Objective This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil. Methods This retrospective cross-sectional study examined 53 children with the diagnosis of infantile epileptic spasms syndrome prior to an autism spectrum disorder assessment. Participants were divided into two groups based on the presence or absence of autism spectrum disorder. Available variables (sex, medications, median age at onset of infantile epileptic spasms syndrome, and presence of comorbidities) were compared using Mann-Whitney U or chi-square tests. Results Among the included patients, 12 (23 %) were diagnosed with autism spectrum disorder, corresponding to a relative risk of 0.29 (95 % confidence interval 0.174-0.492). The age at the first seizure ranged from 3 to 15 months, with a mean of 6.65 months. This age significantly differed between participants with autism spectrum disorder (10.58 months) and those without (5.43 months), p<0.001. Conclusion Children with infantile epileptic spasms syndrome have a higher risk of being diagnosed with autism spectrum disorder. Later age of onset and period of spasm occurrence might be predisposing risk factors. Brazil crosssectional cross sectional 5 assessment sex, sex (sex medications comorbidities MannWhitney Mann Whitney chisquare chi square tests 1 23 (2 029 0 29 0.2 95 (9 0.1740.492. 01740492 0.174 0.492 . 174 492 0.174-0.492) months 665 6 65 6.6 10.58 1058 10 58 (10.5 5.43 543 43 (5.4 , p0001 p 001 p<0.001 factors 2 ( 02 0. 9 1740 0.1740.492 0174049 0174 0.17 0492 0.49 17 49 0.174-0.492 66 6. 10.5 105 (10. 5.4 54 4 (5. p000 00 p<0.00 0.1740.49 017404 017 0.1 049 0.4 0.174-0.49 10. (10 5. (5 p00 p<0.0 0.1740.4 01740 01 04 0.174-0.4 (1 p0 p<0. 0.1740. 0.174-0. p<0 0.1740 0.174-0 p< 0.174-

Resumo O complexo da esclerose tuberosa (CET) é uma doença autossômica dominante caracterizada pelo desenvolvimento de hamartomas no sistema nervoso central, coração, pele, pulmões e rins e outras manifestações, incluindo convulsões, tubérculos corticais, linhas de migração radial, autismo e deficiência cognitiva. A doença está associada a variantes patogênicas nos genes TSC1 ou TSC2, resultando na hiperativação da via mTOR, um importante regulador do crescimento e metabolismo celular. Consequentemente, a hiperativação da via mTOR leva à proliferação anormal do tecido e ao desenvolvimento de tumores sólidos. O envolvimento renal no CET é caracterizado pelo desenvolvimento de lesões císticas, carcinoma de células renais e angiomiolipomas renais, que podem progredir e causar dor, sangramento e perda da função renal. Nos últimos anos, houve uma mudança notável na abordagem terapêutica do CET, especialmente no tratamento das manifestações renais. Os inibidores de mTOR surgiram como a principal opção terapêutica, enquanto intervenções cirúrgicas como nefrectomia e embolização são reservadas principalmente para complicações que não respondem ao tratamento clínico, como hemorragia renal grave. Esta revisão se concentra nas principais características clínicas do CET, nos mecanismos subjacentes ao envolvimento renal, nos recentes avanços na terapia para lesões renais e nas perspectivas futuras. (CET central coração pele convulsões corticais radial cognitiva TSC TSC2 celular Consequentemente sólidos císticas dor anos clínico grave futuras

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of hamartomas in the central nervous system, heart, skin, lungs, and kidneys and other manifestations including seizures, cortical tubers, radial migration lines, autism and cognitive disability. The disease is associated with pathogenic variants in the TSC1 or TSC2 genes, resulting in the hyperactivation of the mTOR pathway, a key regulator of cell growth and metabolism. Consequently, the hyperactivation of the mTOR pathway leads to abnormal tissue proliferation and the development of solid tumors. Kidney involvement in TSC is characterized by the development of cystic lesions, renal cell carcinoma and renal angiomyolipomas, which may progress and cause pain, bleeding, and loss of kidney function. Over the past years, there has been a notable shift in the therapeutic approach to TSC, particularly in addressing renal manifestations. mTOR inhibitors have emerged as the primary therapeutic option, whereas surgical interventions like nephrectomy and embolization being reserved primarily for complications unresponsive to clinical treatment, such as severe renal hemorrhage. This review focuses on the main clinical characteristics of TSC, the mechanisms underlying kidney involvement, the recent advances in therapy for kidney lesions, and the future perspectives. (TSC system heart skin lungs seizures tubers lines disability genes metabolism Consequently tumors lesions angiomyolipomas pain bleeding function years option treatment hemorrhage perspectives

ABSTRACT Physical Education has proven to be an effective tool to develop physical and mental conditions in human beings. However, even the proposals in favor of making inclusive education a reality for students with autism spectrum disorder do not achieve the globally expected levels. That is why, the objective of this work is to design a system of inclusive games for the development of motor coordination in students with autism spectrum disorder, in the Physical Education class. To achieve this purpose, the survey, the pedagogical test and observation were used as fundamental methods at the empirical level. The results of the diagnosis point to poor knowledge on the part of Physical Education teachers about the treatment of students with this disorder, so it is proceed to the task of developing a system of games for the development of motor coordination that gradually incorporated them into socialization in the group, and a pertinent evaluative system where superior results could be seen quantitatively and qualitatively.

RESUMO A Educação Física tem se mostrado uma ferramenta eficaz para desenvolver as condições físicas e mentais do ser humano. No entanto, mesmo as propostas a favor de tornar a educação inclusiva uma realidade para alunos com perturbação do espectro do autismo não atingem os níveis globalmente esperados. Por isso o objetivo deste trabalho é desenhar um sistema de jogos inclusivos para o desenvolvimento da coordenação motora em alunos com transtorno do espectro do autismo, na aula de Educação Física. Para atingir este propósito, o inquérito, o teste pedagógico e a observação foram utilizados como métodos fundamentais a nível empírico. Os resultados do diagnóstico apontam para pouco conhecimento por parte dos professores de Educação Física sobre o tratamento dos alunos com esse transtorno, por isso passam à tarefa de desenvolver um sistema de jogos para o desenvolvimento da coordenação motora que os incorpore gradativamente à socialização em o grupo, e um sistema avaliativo pertinente onde resultados superiores pudessem ser vistos quantitativa e qualitativamente.

RESUMEN La Educación Física ha demostrado ser una herramienta eficaz para desarrollar condiciones físicas y mentales en el ser humano. Sin embargo, aún las propuestas a favor de hacer realidad la educación inclusiva en estudiantes con trastorno del espectro autista no logra los niveles mundialmente esperados. Es por ello que en esta obra se plantea como objetivo diseñar un sistema de juegos inclusivos para el desarrollo de la coordinación motriz en estudiantes con trastorno del espectro autista, en la clase de Educación Física. Para lograr este propósito se emplearon como métodos fundamentales del nivel empírico la encuesta, la prueba pedagógica y la observación. Los resultados del diagnóstico apuntan a un deficiente conocimiento por parte de los docentes de Educación Física sobre el tratamiento de los estudiantes con este trastorno, por lo que se procede a la tarea de elaborar un sistema de juegos para el desarrollo de la coordinación motriz que gradualmente los incorpore a la socialización en el grupo, y un sistema evaluativo pertinente donde se pudieron apreciar resultados superiores cuantitativa y cualitativamente.

ABSTRACT: One of the groups that is currently benefiting from a more inclusive educational response in Spain is students with Autism Spectrum Disorder (ASD). This fact has allowed them to enjoy schooling in ordinary centers, like their peers and, at the same time, to receive a highly adapted educational response in which the work of specialized support has a very relevant weight. This article analyzes the role of specialized support in educational centers from an applied perspective, but without forgetting the importance of decisions regarding educational policies as facilitators of this process. The questions presented are the result of an investigation carried out through the study of multiple cases. Qualitative information collection techniques have been used, among which documentary analysis, observations and interviews stand out, and also of a quantitative nature, through the application of 2014 questionnaires constructed ad-hoc to the members of the educational community. Although the data presented is limited to the Early Childhood Education stage and initially to students with ASD, we understand that, knowing how the centers organize specialized supports from an inclusive perspective, can help other centers move forward in the unfinished process of inclusive education.

RESUMEN: Uno de los colectivos que, en la actualidad, se está beneficiando de una respuesta educativa más inclusiva en España es el alumnado con Trastorno del Espectro del Autismo (TEA). Este hecho les ha permitido disfrutar de una escolarización en centros ordinarios, al igual que sus iguales, y a la vez a recibir una respuesta educativa altamente adaptada en la que el trabajo de los apoyos especializados tiene un peso muy relevante. Este artículo analiza el papel de los apoyos especializados en los centros educativos desde una mirada aplicada, pero sin olvidar la importancia de las decisiones en materia de políticas educativas como facilitadoras de este proceso. Los resultados que se exponen son fruto de una investigación realizada a través de un estudio de casos múltiples. Se han utilizado técnicas de recogida de información cualitativa, entre las que destacan el análisis documental, observaciones y entrevistas, y también de naturaleza cuantitativa, mediante la aplicación de 2014 cuestionarios construidos ad-hoc a los miembros de la Comunidad educativa. Aunque los datos que se presentan se circunscriben a la etapa de Educación Infantil y se centran en el alumnado con TEA, entendemos que conocer cómo los centros que organizan los apoyos especializados, desde una perspectiva inclusiva, puede ayudar a otros centros a avanzar en el inconcluso proceso de la educación inclusiva.

RESUMEN El proceso de socialización del niño autista es fundamental para su desarrollo como individuo. El propósito de la investigación fue analizar dentro de este proceso, la relación del capital cultural incorporado en las familias acerca de diferentes trastornos que marcan el autismo y el desarrollo social del niño. Es un estudio triangular donde se utilizaron técnicas cualitativas y cuantitativas. Los resultados indican que las diferentes dimensiones del autismo incorporadas en el capital cultural de las familias, son elementos que intervienen a través de acciones adecuadas en el desarrollo positivo de la socialización del niño autista.

ABSTRACT The socialization process of the autistic child is fundamental for his development as an individual. The purpose of the research was to analyze within this process, the relationship of the cultural capital incorporated in the families about different disorders that mark autism and the social development of the child. It is a triangular study where qualitative and quantitative techniques were used. The results indicate that the different dimensions of autism incorporated in the cultural capital of families are elements that intervene through appropriate actions in the positive development of the autistic child's socialization.

Abstract The occurrence of seizures is frequent during the neonatal period due to the functional immaturity of the brain.The presence of these seizures may lead to a diagnosis of neonatal epilepsy, which is usually as sociated with structural alterations of the brain during neurodevelopment. Approximately 50% of people with active epilepsy have at least one comorbid medical di sorder, and the existence of a comorbid process changes the course of the epilepsy. The presence of neurologic disorders preceding the onset of epilepsy indicates that underlying neurobiological alterations may indepen dently cause the predisposition to epilepsy and comor bid processes. In this review we describe the structural and functional brain processes underlying the onset of neonatal epilepsy and its comorbidities.

Resumen La aparición de convulsiones es frecuente durante el periodo neonatal debido a las características de inma durez funcional del cerebro es este periodo. La aparición de estas convulsiones puede llevar a un diagnóstico de epilepsia neonatal, que suele estar asociado a alteracio nes estructurales del cerebro durante el neurodesarrollo. Aproximadamente el 50% de las personas con epilepsia activa padecen al menos un trastorno médico comórbi do, y esto hace que cambie la evolución de la epilepsia. La presencia de trastornos neurológicos que preceden a la aparición de la epilepsia indica que alteraciones es tructurales y/o funcionales del cerebro subyacentes pue den ser causa de la predisposición a padecer epilepsia y de los procesos comórbidos de manera independiente. En esta revisión describimos los procesos cerebrales estructurales y funcionales que subyacen a la aparición de epilepsia neonatal y sus comorbilidades.

Abstract Introduction : Autism Spectrum Disorder (ASD) is a neurodevelopmental condition which traditional as sessment procedures encounter certain limitations. The current ASD research field is exploring and endorsing innovative methods to assess the disorder early on, based on the automatic detection of biomarkers. How ever, many of these procedures lack ecological validity in their measurements. In this context, virtual reality (VR) shows promise for objectively recording biosignals while users experience ecological situations. Methods : This study outlines a novel and playful VR procedure for the early assessment of ASD, relying on multimodal biosignal recording. During a VR experience featuring 12 virtual scenes, eye gaze, motor skills, elec trodermal activity and behavioural performance were measured in 39 children with ASD and 42 control peers. Machine learning models were developed to identify digital biomarkers and classify autism. Results : Biosignals reported varied performance in detecting ASD, while the combined model resulting from the combination of specific-biosignal models demon strated the ability to identify ASD with an accuracy of 83% (SD = 3%) and an AUC of 0.91 (SD = 0.04). Discussion : This screening tool may support ASD diagnosis by reinforcing the outcomes of traditional assessment procedures.

Resumen Introducción : El Trastorno del Espectro Autista (TEA) es un trastorno del neurodesarrollo, y sus procedimien tos tradicionales de evaluación encuentran ciertas li mitaciones. El actual campo de investigación sobre TEA está explorando y respaldando métodos innovadores para evaluar el trastorno tempranamente, basándose en la detección automática de biomarcadores. Sin embargo, muchos de estos procedimientos carecen de validez ecológica en sus mediciones. En este contexto, la reali dad virtual (RV) presenta un prometedor potencial para registrar objetivamente bioseñales mientras los usuarios experimentan situaciones ecológicas. Métodos : Este estudio describe un novedoso y lúdi co procedimiento de RV para la evaluación temprana del TEA, basado en la grabación multimodal de bio señales. Durante una experiencia de RV con 12 esce nas virtuales, se midieron la mirada, las habilidades motoras, la actividad electrodermal y el rendimiento conductual en 39 niños con TEA y 42 compañeros de control. Se desarrollaron modelos de aprendizaje automático para identificar biomarcadores digitales y clasificar el autismo. Resultados : Las bioseñales reportaron un rendimien to variado en la detección del TEA, mientras que el modelo resultante de la combinación de los modelos de las bioseñales demostró la capacidad de identificar el TEA con una precisión del 83% (DE = 3%) y un AUC de 0.91 (DE = 0.04). Discusión : Esta herramienta de detección pue de respaldar el diagnóstico del TEA al reforzar los resultados de los procedimientos tradicionales de evaluación.

Abstract Autism Spectrum Disorders (ASD) and Attention Defi cit Hyperactivity Disorders (ADHD) are Neurodevelop mental Disorders (ND) that frequently coexist together and have etiological, biological, and clinical factors in common. The comorbidity of both neurodevelopmental disorders is associated with a delay or lack of ASD di agnosis and the development of perceptual, emotional, cognitive and behavioral alterations related to Emotional Dysregulation (ED) is common. When both TN are not diagnosed in childhood, they frequently receive wrong diagnoses at later ages, the most frequent being Border line Personality Disorder (BPD). The clinical presentation of the association of ASD and ADHD, the association with ED, differentiation of BPD, and evaluation and intervention are here analyzed. The comorbidity ASD, ADHD, ED is a more severe disorder associated to polypharmacology and hospital admissions.

Resumen Los Trastornos del Espectro Autista (TEA) y los Tras tornos por Déficit de Atención Hiperactividad (TDAH) son Trastornos del Neurodesarrollo (TN) que coexisten frecuentemente y que tienen factores etiológicos, bio lógicos, clínicos en común. La comorbilidad de ambos TN se asocia a un retraso en el diagnóstico del TEA o un diagnóstico que nunca llegan a recibir y es frecuente el desarrollo de alteraciones perceptivas, emocionales, cognitivas y conductuales relacionadas con la Desregu lación Emocional (DE). Cuando ambos TN no son diag nosticados en infancia, frecuentemente reciben diag nósticos equivocados en edades más tardías, siendo el más frecuente el Trastorno Límite de Personalidad (TLP). Se analiza la presentación clínica de la asociación del TEA y el TDAH, la asociación con DE, diferenciación del TLP y evaluación e intervención. La comorbilidad TEA, TDAH, DE, es un trastorno más severo, asociado a poli farmacología y a ingresos hospi talarios.

Abstract With the upsurge of community uptake in popula tion-based early screening for autism, the main obstacle to increasing access to early treatment and intervention services is the extremely limited access to high quality diagnosis, specifically the shortage of expert clinicians. Diagnostic evaluation models deployed by academic cen ters of excellence, which typically require the investment of 6-10 hours by specialized multidisciplinary teams, is not a viable solution to the vast needs of communities, resulting in parents’ “diagnostic odysseys” and delays, often of several years, for treatment, interventions and supports. Biomarker-based objective procedures for early diagnosis and assessment of autism are now available, clinically validated, and cleared for broad implementa tion by the US Food and Drug Administration (FDA). They are intended to increase access while maintaining high quality. Such solutions, however, will require change in entrenched models of diagnostic care, and aggressive prioritization of the needs of the community at large. If these innovations are successful, the number of children diagnosed in the first three years of life will double or triple. This will, in turn, require much greater inves tments in resources for treatment, including massive workforce training of providers capable of delivering community-viable caregiver-mediated interventions, and of early educators capable of serving autistic children in therapeutic inclusive preschool settings.

Resumen Con el aumento de la aceptación comunitaria de la detección temprana del autismo basada en la pobla ción, el principal obstáculo para aumentar el acceso al tratamiento temprano y a los servicios de intervención es el acceso extremadamente limitado a un diagnóstico de alta calidad, específicamente la escasez de médicos expertos. Los modelos de evaluación diagnóstica imple mentados por centros académicos de excelencia, que normalmente requieren la inversión de 6 a 10 horas por parte de equipos multidisciplinarios especializados, no son una solución viable para las vastas necesidades de las comunidades, lo que resulta en “odiseas diagnósti cas” y retrasos, a menudo de gran importancia, para los padres varios años, para tratamiento, intervenciones y apoyos. Los procedimientos objetivos basados en bio marcadores para el diagnóstico temprano y la evaluación del autismo ya están disponibles, clínicamente validados y aprobados para su amplia implementación por la Ad ministración de Alimentos y Medicamentos de EE. UU. (FDA). Su objetivo es aumentar el acceso manteniendo una alta calidad. Sin embargo, tales soluciones requeri rán cambios en los modelos arraigados de atención de diagnóstico y una priorización agresiva de las necesida des de la comunidad en general. Si estas innovaciones tienen éxito, el número de niños diagnosticados en los primeros tres años de vida se duplicará o triplicará. 51 Esto, a su vez, requerirá inversiones mucho mayores en recursos para el tratamiento, incluida la capacitación masiva de la fuerza laboral de proveedores capaces de brindar intervenciones comunitarias viables mediadas por cuidadores, y de educadores tempranos capaces de atender a niños autistas en entornos preescolares terapéuticos inclusivos.

Abstract Autism is a neurobiologically based neurodevelop mental disorder with high prevalence and a clear pre dominance in males. It is characterized by deficits in social cognition and communication, restricted inter ests, and stereotyped behaviors, frequently associated with sensory dysfunction others neurodevelopmental conditions, neuropsychiatric disorders, epilepsy, and/or sleep disorders. This condition will accompany people throughout their lives, which will generate various sup port and treatment needs. People with autism often need to “fit in” and for this they use techniques such as camouflage, also called masking. This attitude has been observed in people with typical development and in people with autism in childhood, adolescence and adult life, although in autistic people this behavior is more intense and takes longer and with more frequency and intensity in autistic adult women. This could explain the underreporting of autism, the later diagnosis, the delay in the therapeutic approach, and the greater presence of anxiety and depression disorders related to the effort that “appearing normal” implies. Even though camouflage people appear to be “normal” and fit in perfectly, this is not an attitude that we should promote and, on the contrary, it is imperative to work to improve the environment and the under standing of each person. In this paper we will analyze the clinical aspects, their relationship with age, sex, and ways of detecting it.

Resumen El autismo es un trastorno del neurodesarrollo de base neurobiológica con alta prevalencia y claro predo mino en varones. Se caracteriza por déficits en la cog nición social y la comunicación, intereses restringidos y conductas estereotipadas, frecuentemente asociado a disfunciones sensoriales, otras condiciones del neuro desarrollo, trastornos neuropsiquiátricos, epilepsia y/o trastornos de sueño. Esta condición acompañará a las personas a lo largo de toda la vida, lo cual generará diversas necesidades de apoyo y tratamientos. Las personas con autismo muchas veces necesitan “encajar”, para ello utilizan técnicas como el camuflaje, también denominada enmascara miento. Esta actitud se ha observado en personas con desarrollo típico y en personas con autismo en la infan cia, adolescencia y vida adulta, aunque en los autistas esta conducta es más intensa y lleva más tiempo, y se la identifica con más frecuencia e intensidad en mujeres adultas autistas. Esto podría explicar el subregistro de autismo, el diagnóstico más tardío, el retraso en el abordaje tera péutico y la mayor presencia de trastornos de ansiedad y depresión relacionados al esfuerzo que implica “pa recer normal”. Si bien las personas al camuflar parecen ser “normales” y encajan perfectamente, ésta no es una actitud que debiera propiciarse, por el contrario es imperativo trabajar para mejorar el entorno y la com prensión de cada persona. En este trabajo analizamos los aspectos clínicos, su relación con la edad, sexo, y formas de detección del mismo.

Abstract The Autism Spectrum Disorder is a neurobiological based disorder with a high percentage of heritability and a wide list of possible etiologies that presents very heterogeneous changes in neuronal architecture, con nectivity and synaptogenesis with characteristic clinical manifestations whose origin points to environmental, immunological, genetic and other causes, without hav ing been confirmed specific biomarkers. Diagnosis con tinues to be based on typical features including repeti tive behaviors and impaired communication and social interaction. Their genetic and non-genetic risk factors are reviewed to advance knowledge about the pathologi cal processes that may be related to their origin.

Resumen El Trastorno del Espectro Autista es una patología de base neurobiológica con alto porcentaje de hereda bilidad y amplia lista de posibles etiologías, que pre senta cambios muy heterogéneos en la arquitectura, conectividad y sinaptogénesis neuronal, con manifes taciones clínicas características, cuyo origen apunta a causas ambientales, inmunológicas, genéticas y otras, sin haberse confirmado biomarcadores específicos. El diagnóstico se sigue basando en características típicas que incluyen conductas repetitivas y comunicación e interacción social deterioradas. Se revisan sus factores de riesgo genéticos y no genéticos para avanzar en el conocimiento sobre los procesos patológicos que pueden relacionarse a su origen.

Abstract Sleep disorders are common in children and affect neurological development with important cognitive, emotional and behavioral repercussions. There is a high prevalence of sleep disorders (SD) in neurodevelop mental disorders (NDD) such as autism spectrum dis order (ASD) and attention-deficit hyperactivity disorder (ADHD). Sleep disorders in pediatric population have a prevalence of 6-25%, while in children with NDD this number rises to 50-80%. In NDDs, higher rates of dif ficulties in falling asleep, nocturnal awakenings and daytime sleepiness are observed. Disturbances in the circadian rhythm as well as respiratory sleep disorders are also observed. Consequently, there is a decrease in alertness for daytime activities with increased be havioral disorders, emotional problems and academic difficulties associated with executive and memory dys functions. Sleep assessment has to be a systemic part in the clinical evaluation of children with NDDs, so as to give a convenient diagnosis and treatment in each case, allowing to improve the quality of life of children and their families.

Resumen Los trastornos del sueño son frecuentes en niños y afectan al desarrollo neurológico, con importante repercusión cognitiva, emocional y conductual. Existe una alta prevalencia de trastornos del sueño (TS) en los trastornos del neurodesarrollo (TND), como trastorno del espectro autista (TEA) y trastorno por déficit de atención con hiperactividad (TDAH). Los TS en población pediá trica tienen una prevalencia del 6-25%, mientras que en los niños con TND esta cifra asciende al 50-80%. En los TND se observa un incremento de las dificultades para conciliar el sueño, de los despertares nocturnos y de la somnolencia diurna. Así mismo, presentan alteracio nes del ritmo circadiano y trastornos respiratorios del sueño. Como consecuencia se produce una reducción de la alerta para las actividades diarias con incremento de trastornos conductuales, problemas emocionales y dificultades académicas asociadas a disfunciones eje cutivas y de memoria. La evaluación del sueño debe formar parte sistemática en la valoración clínica de los niños con TND, con el fin de realizar un diagnóstico y un tratamiento adecuados a cada caso, permitiendo mejorar la calidad de vida del niño y de su familia.

INTRODUCTION: This rapid review aimed to synthesise evidence for occupational therapy intervention in the management of autism spectrum disorders. The review forms part of a series of rapid reviews commissioned by the Occupational Therapy Association of South Africa to help inform decision making as South Africa prepares for a new health system. METHOD: Level I and II research studies published from 2017 - 2022 were considered for inclusion. Electronic database searches were conducted on the Cochrane database. The identified records were screened in Rayyan according to inclusion and exclusion criteria. Quality assessment of the selected articles was done with the CASP appraisal tool. Data were extracted to a custom Microsoft Excel® worksheet and analysed quantitatively by percentage/frequency and qualitatively by thematic analysis of statements. RESULTS: Thirty-eight records were selected. These included 30 systematic reviews and eight randomised controlled trials. Twelve intervention domains across four age groups were identified with sensory integration and social skills interventions most frequently examined. Interventions were delivered across various venues, including mediation and technology (e.g., telehealth interventions). A number of different outcome measures were used. CONCLUSION: There is evidence to support the effectiveness of occupational therapy interventions for autism spectrum disorder across the lifespan for twelve different domains. IMPLICATIONS FOR PRACTICE: • Occupational Therapists are involved in the provision of therapy intervention across all age groups for people with ASD. • Intervention can successfully take place in a clinic setting, but also at home or through means of technology. • There is growing evidence for sensory integration therapy or techniques when considering functional outcomes when treating people with ASD. • There is a lack of Level I and II research in the form of randomised control trials and systematic reviews regarding ASD intervention in sub-Saharan Africa.