Use and Benefit of Dyadic Coping for Couple Relationship Satisfaction in Parents of Children with Autism.

Parents of children with autism spectrum disorder (ASD) are at increased risk for unsatisfying and conflict-ridden couple relationships (i.e., marital or romantic partner relationships). There is a critical need to identify the couple-level processes that contribute to this risk. The current study examined the use of dyadic coping, defined as the appraisals and behaviors that partners in relationships use and receive to manage stressors, and to examine whether dyadic coping mediated the association between parenting stress and couple relationship satisfaction in parents who have a child with ASD and in parents who do not have a child with ASD. In total, 184 couples that had a child with ASD (aged 5-12 years) and comparison group of 183 couples who have a child without a neurodevelopmental condition participated in the study. A multivariate analysis of covariance indicated that parents of children with ASD reported less positive and more negative dyadic coping than did parents in the comparison group. Hierarchical linear modeling indicated that dyadic coping mediated the association between parenting stress and couple relationship satisfaction. Findings have important implications for programs aimed at enhancing parent couple relationship in families of children with ASD.

Los padres de niños con trastorno del espectro autista (TEA) corren mayor riesgo de tener relaciones de pareja insatisfactorias y conflictivas (p. ej.: relaciones de pareja o conyugales). Existe una necesidad imperiosa de reconocer los procesos a nivel de la pareja que contribuyen a este riesgo. El presente estudio analizó el uso del afrontamiento diádico, definido como las evaluaciones y las conductas que los integrantes de la pareja usan y reciben para manejar los factores desencadenantes de estrés, y si este afrontamiento sirvió como mediador de la asociación entre el estrés por la crianza y la satisfacción con la relación de pareja en los padres que tienen un niño con TEA y en los padres que no tienen un niño con TEA. Participaron en el estudio un total de 184 parejas que tenían un hijo con TEA (de entre 5 y 12 años) y un grupo comparativo de 183 parejas que tenían un hijo sin un trastorno del desarrollo neurológico. Un análisis multifactorial de la covarianza indicó que los padres de los niños con TEA informaron un afrontamiento diádico menos positivo y más negativo que los padres en el grupo de comparación. Los modelos lineales jerárquicos indicaron que el afrontamiento diádico sirvió como mediador de la asociación entre el estrés por la crianza y la satisfacción con la relación de pareja. Los resultados tienen consecuencias importantes para los programas orientados a mejorar la relación de los padres como pareja en las familias de niños con TEA.

The Cultural Adaptation of a Transition Program for Latino Families of Youth with Autism Spectrum Disorder.

During the transition to adulthood, effective and culturally relevant supports are critical for families of youth with autism spectrum disorder (ASD). There is a dearth of documented program development and research on supports for Spanish-speaking Latino families during this life stage. The present work describes the cultural adaptation process of an evidence-based transition program for Latino families of youth with ASD. A model of the actions necessary to meaningfully conduct a cultural adaptation in this context is described. After implementing the culturally adapted program titled Juntos en la Transición with five Spanish-speaking families, parents reported high social validity of the program through surveys and interviews. The cultural adaptation process followed in this work is important for the further development of programs that address the transition needs of Latino youth with ASD and their families. Our impressions may also be useful to those who aim to develop culturally sensitive and ecologically valid multifamily group intervention programs for families from cultural and linguistic minority groups.

Durante la transición a la adultez, las adaptaciones eficaces y culturalmente relevantes son fundamentales para las familias de jóvenes con trastorno del espectro autista (TEA). Hay una escasez de investigaciones y desarrollo de programas documentados sobre las adaptaciones para las familias latinas de habla hispana durante esta etapa de la vida. El presente trabajo describe el proceso de adaptación cultural de un programa de transición de base fáctica para familias latinas de jóvenes con TEA. Se describe un modelo de las medidas necesarias para llevar a cabo significativamente una adaptación cultural en este contexto. Después de implementar el programa adaptado culturalmente y titulado Juntos en la Transición con cinco familias de habla hispana, los padres informaron una alta validez social del programa mediante encuestas y entrevistas. El proceso de adaptación cultural seguido en este trabajo es importante para el futuro desarrollo de programas que aborden las necesidades de transición de los jóvenes latinos con TEA y sus familias. Nuestras impresiones también pueden ser útiles para aquellos que desean desarrollar programas de intervención en grupos multifamiliares ecológicamente válidos y culturalmente adaptados para familias de grupos culturales y lingüísticos minoritarios.

Exploring Exceptions and Discovering Solutions: A Case Presentation of Autism and the Family.

As the prevalence of autism spectrum disorder (ASD) continues to rise, there is a rapidly increasing need for treatment services among individuals diagnosed with ASD and families. Currently, the majority of the evidence-based treatments, such as Applied Behavior Analysis, overlook the notable systemic effects of ASD and maintain a problem-focused lens. There is a growing body of research calling for strength-based, relational interventions that build on existing resources to enhance coping, efficacy, and well-being among families affected by ASD. Solution-Focused Brief Therapy (SFBT) is a widely practiced clinical approach that is increasingly being used among clinicians to address the systemic effects of developmental disabilities in the family. However, particular modifications to specific interventions may better accommodate autism-associated deficits in executive functioning (e.g., goal development and impulsivity), perspective taking, or restricted interests when using an SFBT approach. This article offers recommendations for adapting a solution-focused approach by modifying commonly used SFBT interventions to address family-driven treatment goals using a collaborative stance with families of children with ASD. A case presentation is included to demonstrate SFBT as informed by the unique challenges and inherent resources of families affected by ASD that have been identified in the extant literature.

A medida que el predominio del trastorno del espectro autista (TEA) continúa aumentando, hay una necesidad cada vez mayor de servicios de tratamiento entre personas diagnosticadas con TEA y sus familias. Actualmente, la mayoría de los tratamientos factuales, como el análisis conductual aplicado, pasan por alto los efectos sistémicos destacados del TEA y mantienen una óptica centrada en los problemas. Existe una creciente recopilación de estudios de investigación que exige intervenciones relacionales basadas en las fortalezas que aprovechen los recursos existentes para mejorar las habilidades de superación de dificultades, la eficacia y el bienestar entre las familias afectadas por el TEA. La terapia breve centrada en soluciones (TBCS) es un enfoque clínico de práctica generalizada que se está utilizando cada vez más entre los profesionales clínicos para abordar los efectos sistémicos de las discapacidades del desarrollo en la familia. Sin embargo, algunas modificaciones particulares a intervenciones específicas pueden contemplar mejor los déficits asociados con el autismo en el funcionamiento ejecutivo (p. ej.: desarrollo de objetivos, impulsividad), la adopción de perspectivas o los intereses restringidos cuando se usa un método de TBCS. Este artículo ofrece recomendaciones para adaptar un enfoque centrado en soluciones mediante la modificación de intervenciones de TBCS comúnmente utilizadas para abordar los objetivos de tratamiento impulsados por la familia adoptando una postura colaborativa con las familias de los niños con TEA. Se incluye la presentación de un caso para demostrar la TBCS valiéndose de las dificultades únicas y los recursos inherentes de las familiares afectadas por el TEA que se han identificado en la bibliografía existente.

Psychological Well-Being and Parent-Child Relationship Quality in Relation to Child Autism: An Actor-Partner Modeling Approach.

Parents of children with autism spectrum disorder (ASD) often report poor psychological well-being, including a high level of parenting stress and depressive symptoms. Little is known about the extent to which poor parent psychological well-being alters the emotional quality of the parent-child relationship in a context of child ASD. This study examined the association between actor (one's own) and partner (one's partner's) level of parenting stress and depressive symptoms and the emotional quality of the parent-child relationship using a Five Minute Speech Sample (FMSS) in 150 families of children with ASD, aged 5-12 years (85.7% male). Mothers and fathers were aged 38.69 (SD = 5.62) and 40.76 (SD = 6.19), respectively; 76% of mothers and 68% of fathers had a college degree. Structural equation modeling, using Analysis of Moment Structures software, was used to test Actor-Partner Interdependence Models. Results indicated that mother's level of parenting stress and depressive symptoms were associated with her own FMSS Warmth and Criticism toward the child with ASD 12 months later in negative and positive directions. Mother's level of parenting stress was also negatively associated with father's FMSS Warmth toward the child with ASD 12 months later. Finally, father's level of parenting stress was positively associated with his FMSS Criticism toward the child with ASD. Overall, findings indicate that the mother-child and father-child relationship are both impacted by parent psychological well-being in families of children with ASD; however, actor effects are stronger for mothers and partner effects were only found for fathers. Implications for interventions are discussed.

Los padres de los niños con trastorno del espectro autista (TEA) generalmente informan un bienestar psicológico deficiente, como un alto nivel de estrés por la crianza y síntomas depresivos. Se sabe muy poco acerca de la medida en la que el bienestar psicológico deficiente de los padres altera la calidad emocional de la relación entre padres e hijos en un contexto de TEA de los niños. El presente estudio analizó la asociación entre el nivel de estrés por la crianza y los síntomas depresivos del actor (los de uno) y de la pareja (la pareja de uno) y la calidad emocional de la relación entre padres e hijos usando una muestra del habla de cinco minutos (Five Minute Speech Sample, FMSS) en 150 familias de niños con TEA, de entre 5 y 12 años (85.7% masculino). Las madres y los padres tenían 38.69 (Desviación Típica = 5.62) y 40.76 (Desviación Típica = 6.19) de edad, respectivamente; el 76 % de las madres y el 68 % de los padres tenía un título universitario. Para evaluar los modelos de interdependencia actor-pareja se utilizaron los modelos de ecuaciones estructurales mediante el software de análisis de estructuras de momentos. Los resultados indicaron que el nivel de estrés por la crianza y los síntomas depresivos de la madre estuvieron asociados con su propia calidez y crítica según la FMSS hacia el niño con TEA doce meses después en direcciones negativas y positivas. El nivel de estrés por la crianza de la madre también estuvo asociado negativamente con la calidez del padre según la FMSS hacia el niño con TEA doce meses después. Finalmente, el nivel de estrés por la crianza del padre estuvo asociado positivamente con su crítica según la FMSS hacia el niño con TEA. En general, los resultados indican que la relación entre la madre y el niño y la relación entre el padre y el niño están ambas influidas por el bienestar psicológico de los padres en las familias de niños con TEA; sin embargo, los efectos del actor son más fuertes para las madres y solo se encontraron efectos de la pareja para los padres. Se debaten las implicancias para las intervenciones.

Case-contrast study about parent-infant interaction in a Brazilian sample of siblings of children with autism spectrum disorders.

Siblings of children with autism spectrum disorders (ASD) present greater susceptibility to developmental problems, in comparison with siblings of typically developing children. The greater prevalence of mental health disorders among parents of children with ASD increases younger siblings' vulnerability to emotional problems. The aim of this study is to compare the interaction between carers and babies aged 2 to 26 months (M = 11.7, SD = 6.9) who are siblings of children with ASD (ASD dyads) with the interaction of dyads of siblings of typically developing children (TD dyads). The protocol of Clinical Indicators of Risk for Child Development and the Coding Interactive Behaviour measures were used to evaluate interaction. ASD dyads presented higher scores of constriction in their interaction, P = .024, with babies presenting higher scores of withdrawal behavior, P = .003, and carers presenting higher scores of depressive mood, P = .008, when compared to TD dyads. The ASD dyads have interactive impairments more frequently than do the TD dyads.

Trasfondo: Los hermanos de niños con trastornos dentro de la gama del autismo (ASD) presentan una mayor susceptibilidad a problemas del desarrollo, en comparación con los hermanos de niños que se desarrollan de una manera típica. La mayor prevalencia de trastornos de salud mental entre padres de niños con ASD aumenta la vulnerabilidad de los hermanos más jóvenes a problemas emocionales. El objetivo de este estudio es comparar la interacción entre cuidadores y bebés de edad entre 2 y 26 meses (Media: 11.7 meses/ SD: 6.9) hermanos de niños con ASD (díadas ASD), con las interacción de díadas de hermanos de niños que se desarrollan típicamente (díadas TD). Método: Para evaluar la interacción se usó el protocolo de los Indicadores Clínicos de Riesgo para el Desarrollo del Niño y la Codificación Interactiva de Conducta. Resultados: Las díadas ASD presentaron puntuaciones más altas de constricción en su interacción (p = 0.024), con los bebés que presentaron más altas puntuaciones de conducta de despego (p = 0.003) y los cuidadores que presentaron más altas puntuaciones de estados de ánimo depresivos (p = 0.008) cuando se les comparó con las díadas TD. Conclusiones: Las díadas ASD tienen impedimentos interactivos más frecuentemente que las díadas TD.

Contexte: Les frères et sœurs d'enfants avec des troubles du spectre autistique (TSA) présentent une plus grande susceptibilité à des problèmes comportementaux, comparés aux frères et sœurs d'enfants se développant typiquement. La plus grande prévalence de troubles de santé mentale avec les parents d'enfants avec TSA augmente la vulnérabilité aux problèmes émotionnels des jeunes frères ou sœurs. Le but de cette étude est de comparer l'interaction entre les parents ou personnes prenant soin des enfants et les bébés âgés de 2 à 26 mois (Moyenne: 11, 7 mois/ DS: 6,9), frères et sœurs d'enfants avec des TSA (dyades-TSA), avec l'interaction de dyades de frères et sœurs d'enfants se développant typiquement (dyades-DT). Méthode: Le protocole d'Indicateurs Cliniques de Risque pour le Développement de l'Enfant et le Codage des Comportements Interactifs ont été utilisés pour évaluer l'interaction. Résultats: les dyades TSA ont présenté des scores plus élevés de constriction (p = 0,024) de leur interaction avec les bébés présentant des scores de comportement de retrait (p = 0,003) et les personnes prenant soin des enfants ont présenté des scores plus élevés d'humeur dépressive (p = 0,008) quand comparées aux dyades-DT. Conclusions: Les dyades-TSA ont des insuffisances interactives plus fréquemment que les dyades-DT.

EARLY REGULATION IN CHILDREN WHO ARE LATER DIAGNOSED WITH AUTISM SPECTRUM DISORDER. A LONGITUDINAL STUDY WITHIN THE DANISH NATIONAL BIRTH COHORT.

Studies have shown that children later diagnosed with autism spectrum disorders (ASD) in their first years of life might show symptoms in main developmental areas and that these signs might be sensed by the parents. The present study investigated in a large birth cohort if children later diagnosed with ASD had deviations at 6 and 18 months in areas such as the ability to self-regulate emotions, feeding, and sleeping. The study was based on prospective information collected from 76,322 mothers who participated in the Danish National Birth Cohort. When the children reached an average age of 11 years, 973 children with ASD and a control group of 300 children with intellectual disability (IDnoASD) were identified via Danish health registries. Associations were found between short periods of breast-feeding and the children later diagnosed with ASD and IDnoASD as well as associations at 18 months to deviations in regulation of emotions and activity. The similarities in these associations emphasize how difficult it is to distinguish between diagnoses early in life.

Parents Taking Action: A Psycho-Educational Intervention for Latino Parents of Children With Autism Spectrum Disorder.

The increased prevalence of autism spectrum disorder (ASD) among Latino children, later diagnosis, limited access to bicultural specialist support, and worsened health outcomes when compared to non-Latinos points to the need for a culturally relevant parent education intervention. This pilot study examined the feasibility, acceptability, and preliminary outcomes of a culturally derived intervention, Parents Taking Action, for 19 Spanish-speaking mothers of children with ASD. This study introduces the Promotora de Salud Model of intervention delivery to the autism field. A mixed-methods design including one group pre- and posttest design and focus groups was used to evaluate the outcomes of PTA. We found that the intervention was both feasible to implement and acceptable to participants. We also found significant increases in empowerment oriented outcomes for parents between pre- and posttest suggesting that the intervention is promising. Suggestions for future research and practice are offered.

Exploratory Evaluation and Initial Adaptation of a Parent Training Program for Hispanic Families of Children with Autism.

The present paper takes a translational approach in applying the themes of the current special section to prevention and intervention science in Latino families. The paper reviews the current literature on cultural processes in prevention and intervention research with Latino families. Overall, many prevention and intervention programs have either been developed specifically for Latino families or have been modified for Latino families with great attention paid to the socio-cultural needs of these families. Nevertheless, few studies have tested the role of cultural values or acculturation processes on outcomes. We make recommendations based on findings within basic science and in particular this special section on the incorporation of these values and processes into prevention and intervention science with Latino families.

SYMPTOM PRESENTATIONS AND CLASSIFICATION OF AUTISM SPECTRUM DISORDER IN EARLY CHILDHOOD: APPLICATION TO THE DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD (DC:0-5).

Over the past 5 years, a great deal of information about the early course of autism spectrum disorder (ASD) has emerged from longitudinal prospective studies of infants at high risk for developing ASD based on a previously diagnosed older sibling. The current article describes early ASD symptom presentations and outlines the rationale for defining a new disorder, Early Atypical Autism Spectrum Disorder (EA-ASD) to accompany ASD in the new revision of the ZERO TO THREE Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0-5) (in press) alternative diagnostic classification manual. EA-ASD is designed to identify children who are 9 to 36 months of age presenting with a minimum of (a) two social-communication symptoms and (b) one repetitive and restricted behavior symptom as well as (c) evidence of impairment, with the intention of providing these children with appropriately tailored services and improving the likelihood of optimizing their development.

INFANT AVOIDANCE DURING A TACTILE TASK PREDICTS AUTISM SPECTRUM BEHAVIORS IN TODDLERHOOD.

The experience of touch is critical for early communication and social interaction; infants who show aversion to touch may be at risk for atypical development and behavior problems. The current study aimed to clarify predictive associations between infant responses to tactile stimuli and toddler autism spectrum, internalizing, and externalizing behaviors. This study measured 9-month-old infants' (N = 561; 58% male) avoidance and negative affect during a novel tactile task in which parents painted infants' hands and feet and pressed them to paper to make a picture. Parent reports on the Pervasive Developmental Problems (PDP), Internalizing, and Externalizing scales of the Child Behavior Checklist were used to measure toddler behaviors at 18 months. Infant observed avoidance and negative affect were significantly correlated; however, avoidance predicted subsequent PDP scores only, independent of negative affect, which did not predict any toddler behaviors. Findings suggest that incorporating measures of responses to touch in the study of early social interaction may provide an important and discriminating construct for identifying children at greater risk for social impairments related to autism spectrum behaviors.

[Basics of early intervention in children with autism spectrum disorders]. / Fundamentos de la intervención temprana en niños con trastornos del espectro autista.

Autism Spectrum Disorders (ASD) are characterized by impairments in communication and social interaction, as well as restricted and repetitive patterns of behavior. They have a prevalence of 0.6% in the general population, although there are no national statistics. Even though their evolution is variable, it has been observed that early intervention is an important factor determining prognosis. The aim of this study is to update concepts regarding the current available evidence on the importance of early intervention. After analyzing the collected information, the importance of early intervention programs for children with ASD is confirmed, as well as the role of pediatricians and other health professionals in the early detection of these disorders.

[Changes in the demand for paediatric neurology care in a spanish tertiary care hospital over a 20-year period]. / Evolución de la demanda asistencial neuropediátrica en un hospital español de tercer nivel a lo largo de 20 años.

OBJECTIVE: The purpose of this study is to determine the profile of the demand for paediatric neurology care in a Spanish tertiary hospital over the past 20 years. METHOD: We studied epidemiological data, reasons for consultation, diagnoses and complementary tests from all patients examined by our Paediatric Neurology Unit in its 20 years of service (from May 1990 to March 2010). We also reviewed data from patients whose first visit took place within the last five years (2005-2010) and compared them to data obtained from a prior study carried out in this Unit from 1990 to 1995. To compare the first 5 years (group 1) with the last 5 years (group 2), we calculated confidence intervals, P<.05, for the frequency distribution (%) in each category. RESULTS: Main reasons for consultation and principal diagnoses for the 12726 patients evaluated in the 20-year period, as well as results from group 1 (2046 patients) and group 2 (4488 patients) corresponding to first and the last 5 years of activity respectively, are presented with their confidence intervals in a series of tables. CONCLUSIONS: Variations in the reasons for consultation, diagnoses and complementary tests over time reflect changes determined by medical, scientific and social progress, and organisational changes specific to each hospital. This explains the difficulty of comparing different patient series studied consecutively, which are even more pronounced between different hospitals.

Stress in parents of preschoolers with Autism Spectrum Disorders: an update review.

BACKGROUND: Parental stress experienced in the context of caring for children with autism spectrum disorder (ASD) in preschool is significant and has been poorly studied; studies tend to focus on more advanced ages of children where parental symptomatology has become chronic. The current study sought to provide new empirical evidence on factors associated with parental stress. METHODS: An exhaustive search was conducted in four academic databases: CINAHL Complete, Medline Complete, Web of Science (WoS), and Scopus, limiting the articles to those published between 2017 and 2023. RESULTS: The sample obtained consisted of 24 selected articles, which were produced in 11 countries, and all were in English. In terms of content, the topics addressed were the manifestation of parental stress, factors of the child with ASD and their relationship with parental stress, factors of parents of children with ASD, family factors of parents of children with ASD, social factors of parents of children with ASD, parental stress and access to formal care services, and parental stress and specialized interventions. CONCLUSIONS: It is possible to affirm that research reports indicate that the general level of stress among parents of children with ASD is compared to their reference groups, both in relation to child-related stress and other stressors. The variables that affect parental stress exhibit a reciprocal influence among them, so interventions aimed at early childhood should incorporate both the children and their parental figures. This is in consideration of the impact that stress has on the mental health of parents, establishing that parents with better health have early access to support services during the early years of parenting, as well as in later years.

INTRODUCCIÓN: El estrés parental vivenciado en el contexto de cuidado de los niños con trastorno del espectro autistas en etapa preescolar es significativo y ha sido muy poco estudiado, las investigaciones tienden a focalizarse en edades de los niños más avanzada donde la sintomatología de los padres se ha cronificado. El objetivo de la presente investigación fue actualizar el corpus de evidencia empírica referida a los factores relacionados con el Estrés parental. MÉTODOS: Se realizó una búsqueda exhaustiva en cuatro bases de datos académicas: CINAHL Complete, Medline Complete, Web of Science (WoS) y Scopus, limitando los artículos publicados entre los años 2017 y 2023. RESULTADOS: La muestra obtenida fue de 24 artículos seleccionados, los cuales fueron producidos por 11 países todos de habla inglesa. En cuanto al contenido, los temas abordados son: La manifestación del estrés parental, factores del niño con TEA y su relación con el estrés parental, factores de los padres de los niños con TEA, factores familiares de los padres de los niños con TEA, factores sociales de los padres de los niños con TEA, estrés parental y acceso a los servicios formales de atención, y estrés parental e intervenciones especializadas. CONCLUSIONES: Es posible afirmar que las investigaciones reportan que el nivel general de estrés de los padres de niños con TEA es superior al de sus grupos de referencia, tanto en relación al estrés relacionado con el niño, como el que no. Las variables que afectan el estrés parental presentan una influencia recíproca entre éstas, por lo que las intervenciones dirigidas a la primera infancia deberían incorporar a los niños y a sus figuras parentales. Esto, en atención al impacto que el estrés presenta en la salud mental de los padres, estableciendo que los padres con mejor salud mental presentan mayor acceso temprano a los servicios de apoyo durante los primeros años de crianza, y en los años posteriores.

[Motor intervention strategies on postural control in children and youth with autism spectrum disorder: A systematic review]. / Estrategias de intervención motora sobre el control postural en niños y jóvenes con trastorno del espectro autista: una revisión sistemática.

Autism spectrum disorder (ASD) has varied characteristics with an impact at the social, communicative and sensorimotor (SM) level. An SM feature is postural control (PC) problems. There are various motor intervention strategies (MIS), but the benefit over LC is something that has been analyzed less extensively. The objective was to describe the MIS and its results on the PC of children and adolescents with ASD. A search of PubMed, Scopus, Web of Science and Cochrane was performed. A total of eight articles met the eligibility criteria. All MIS showed beneficial results on the improvement of PC. The MIS were of a varied nature (dance practice, personalized physical activity, video games, Tai Chi Chuan, Taekwondo and virtual reality). It is necessary to improve the designs and consider the risks of bias, since they limit the scope of the results.

Significance of tuber size for complications of tuberous sclerosis complex.

INTRODUCTION: Tuberous sclerosis complex (TSC) is one of the most frequent neurocutaneous disorders. Cortical tubers are the most common pathological changes in TSC and they are directly related to the disease's main clinical manifestations: seizures, mental retardation, and autistic behaviour. OBJECTIVE: The aim of this study is to establish a correlation between tuber size and the severity of clinical features in TSC. MATERIAL AND METHODS: We performed a retrospective study of the clinical and imaging findings from 45 TSC patients (22 females and 23 males) and compared the clinical features with the location, size, and number of the cortical tubers in each patient. RESULTS: Four patients had voluminous tubers located in 1 or both cerebral hemispheres. All of these patients had intractable seizures and severe mental retardation; 3 of these cases also presented with autistic behaviour, despite tubers having been resected in all 4 patients. Thirteen patients had tubers of large-to-average size, and all patients in this group showed intractable seizures and mental retardation. Nine patients who had experienced infantile spasms during the first year of life presented autistic behaviour. Multiple tubers of small to average size were found in 28 patients. In general, this group had seizures that responded well to antiepileptic drugs and a low prevalence of autism. In 3 patients who all presented good seizure control and normal intelligence, single cortical/subcortical tubers were located in the frontal or occipital lobes. Of the total of 45 patients, 13 had cerebellar as well as cerebral tubers; these were generally present in cases with more severe clinical features. CONCLUSIONS: Although large tubers are less common than small to medium-sized ones, they are much more likely to be accompanied by severe clinical symptoms (seizures, mental retardation and autistic behaviour), even when the smaller tubers are quite numerous.

Prevalence of gastrointestinal symptoms in autism spectrum disorder: A meta-analysis.

INTRODUCTION: A high prevalence of gastrointestinal (GI) symptoms has been described in children and adolescents with autism spectrum disorder (ASD). In addition, there is evidence that presence of GI symptoms is associated to greater severity of ASD. However, the frequency of GI symptoms in children and adolescents with ASD varies widely across studies, and their true prevalence is unknown. Therefore, the objective of this study was to estimate the prevalence of GI symptoms in children and adolescents with ASD. MATERIAL AND METHOD: We conducted a meta-analysis following the PRISMA guidelines. We carried out a rapid systematic search for recent clinical and observational studies published from August 2012 in PubMed. The statistical analyses were performed with the software R. RESULTS: Of 91 potentially eligible articles, only 8 met our inclusion criteria. The prevalence of GI symptoms ranged between 0% and 69%, with an estimated general prevalence of 33% (95% CI, 13%-57%), higher than that reported by a previous meta-analysis for the general paediatric population. This difference is even greater in the specific comparison of studies that applied the paediatric version of the ROME III questionnaire (QPGS-ROME III). CONCLUSIONS: The results confirmed the hypothesis that there is a higher prevalence of functional GI symptoms in paediatric patients with ASD compared to their neurotypical peers.

[Functional feeding to alleviate gastrointestinal disorders associated with autism spectrum disorders: A systematic review]. / Alimentación funcional para aliviar desórdenes gastrointestinales asociados a trastornos del espectro autista: Una revisión sistemática.

Introduction: Background: gastrointestinal disorders (GIDs) are common comorbidities in patients with autism spectrum disorders (ASD); treatments with gluten- and casein-free (LGLC) diets or prebiotic/probiotic supplements may reduce the severity of GIDs. Objective: to integrate and discuss the evidence on the effectiveness of LGLC diet therapies and prebiotic/probiotic supplements on GIDs in patients with ASD. Methodology: the guidelines for the publication of systematic reviews and meta-analyses (PRISMA) were used. Participant characteristics, dietary interventions, prebiotic/prebiotic supplementation, effects of interventions on GIDs, risk of bias, and safety of treatments were analyzed. Results: fifteen investigations were analyzed; the prevalence of GIDs among patients with ASD was high (58 %; range, 27-83 %). In more than 20 % of the patients managed with LGLC diets or supplements GID severity decreased (mainly constipation, diarrhea, and abdominal pain). Increases in the counts of beneficial bacteria and a decrease in the proportion of pathogenic bacteria were reported after supplement use. However, all these investigations had significant methodological biases. Conclusions: although reductions in the frequency and severity of some GIDs have been found, the effectiveness of these treatments has not been proven yet. Given the methodological differences in the investigations, the design of rigorous studies to evaluate the therapeutic effects of these treatments on gastrointestinal health in patients with ASD is warranted.

Introducción: Antecedentes: los trastornos gastrointestinales (TGI) son comorbilidades comunes en los pacientes con trastornos del espectro autista (TEA); los tratamientos con dietas libres de gluten y caseína (LGLC) o suplementos de prebióticos/probióticos podrían reducir la severidad de los TGI. Objetivo: integrar y discutir la evidencia sobre la efectividad de las terapias con dietas LGLC y suplementos de prebióticos/probióticos sobre los TGI en pacientes con TEA. Metodología: se utilizaron las guías para la publicación de revisiones sistemáticas y metaanálisis (PRISMA). Se analizaron las características de los participantes, las intervenciones dietéticas, la administración de suplementos de prebióticos/prebióticos, los efectos de las intervenciones sobre los TGI, el riesgo de sesgo de los estudios y la seguridad de los tratamientos. Resultados: se analizaron quince investigaciones; la prevalencia de los TGI entre los pacientes con TEA fue alta (58 %; rango, 27-83 %). En más del 20 % de los pacientes intervenidos con dietas LGLC o suplementos disminuyó la severidad de los TGI (principalmente estreñimiento, diarrea y dolor abdominal). Se reportaron aumentos en los conteos de bacterias benéficas y una disminución de la proporción de bacterias patógenas tras el uso de los suplementos. Sin embargo, todas estas investigaciones presentaron sesgos metodológicos importantes. Conclusiones: aunque se han encontrado reducciones en la frecuencia y severidad de algunos TGI, la efectividad de estos tratamientos aún no se ha comprobado. Dadas las diferencias metodológicas de las investigaciones, se justifica el diseño de estudios rigurosos para evaluar los efectos terapéuticos de estos tratamientos sobre la salud gastrointestinal en pacientes con TEA.

Phelan-McDermid and general anesthesia with different hypnotics.

Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disease, caused by an autosomal dominant mutation due to the terminal deletion of 22q13, leading to a defect in the SHANK3 protein. We present the clinical case of a 12-year-old patient with this syndrome, who underwent three interventions that required general anesthesia. In none of them did she present intraoperative or postoperative complications.

Autism: an 'epidemic' of contemporary times?

The text discusses the growing incidence of autism in the world, presents an understanding of autism from the point of view of analytical psychology, and reflects on the treatment of autistic patients. Today, it is understood that autism is part of a continuum of characteristics on a spectrum with biological and congenital causes. It is a non-specific picture resulting from multiple causations of non-linear factors. Autism is a neuro-developmental disorder characterized by a triad of symptoms: persistent deficits in social communication and social interaction, and restricted and repetitive patterns of behaviours, interests, or activities. Autism spectrum disorder must be considered as a clinical entity, with current clearly defined characteristics. It is an extremely complex condition, which requires multidisciplinary approaches aiming at the possibility of prognosis and effective therapeutic approaches. This paper explores how a disturbance may occur from the intra-uterine phase, in which matriarchal experiences do not constellate. The structuring function of the patriarchal organization can then become dominant, and people with autism need understanding and help to organize their world and learn to live in it. As they don't have the capacity to structure consciousness through the matriarchal archetype, they rely entirely on the structuring and organizing capacity of the Father archetype.

Ce texte traite du taux croissant d'autisme dans le monde. Il présente une compréhension de l'autisme du point de vue de la psychologie analytique, et réfléchit au traitement des patients autistes. Au jour d'aujourd'hui il est accepté que l'autisme fait partie d'un continuum de caractéristiques sur un spectre qui inclut des causes biologiques et congénitales. Il s'agit d'un tableau non-spécifique qui est le résultat de causalités multiples concernant des facteurs non-linéaires. L'autisme est un trouble neuro-développemental caractérisé par une triade de symptômes: des déficits durables dans la communication et les interactions sociales, et des schémas de comportements, d'intérêts et d'activités restreints et répétitifs. Le spectre autistique doit être considéré comme une entité clinique, avec des traits caractéristiques actuels raisonnablement définis. C'est une condition extrêmement complexe, qui requiert des approches multidisciplinaires ayant pour but la possibilité d'un pronostic et d'approches thérapeutiques efficaces. Il est possible qu'un problème se produise durant la phase intra-utérine, dans laquelle les expériences matriarcales ne se constelleraient pas. La fonction structurante de l'organisation patriarcale peut devenir dominante et les personnes autistes ont besoin de compréhension et d'aide pour organiser leur monde et apprendre à vivre dedans. N'ayant pas la capacité de structurer la conscience à travers l'archétype matriarcal, elles s'appuient complètement sur la capacité structurante et organisatrice de l'archétype du Père.

El texto describe la incidencia en aumento de autismo en el mundo, presenta una comprensión sobre el autismo desde la perspectiva de la psicología analítica, y reflexiona acerca del tratamiento de pacientes autistas. Actualmente, se comprende que el autismo es parte de un continuum de características en un espectro con causas biológicas y congénitas. Es un cuadro no específico resultado de múltiples causalidades de factores no-lineales. El autismo es un trastorno del neuro-desarrollo caracterizado por una tríada de síntomas: un déficit persistente en la comunicación e interacción social; patrones de conducta, intereses o actividades restrictivas y repetitivas. El trastorno de espectro autista debe ser considerado como una entidad clínica, con características razonablemente definidas y vigentes. Es una condición extremadamente compleja, que requiere de abordajes multidisciplinarios tendientes a la posibilidad de una prognosis y de abordajes terapéuticos efectivos. Posiblemente, una alteración ocurre en la fase intrauterina, en la cual la experiencia matriarcal no se constela. La función estructurante de la organización patriarcal puede volverse dominante y las personas con autismo necesitan comprensión y ayuda para organizar su mundo y aprender a vivir en éste. Al no tener la capacidad de estructurar la consciencia a través del arquetipo matriarcal, dependen enteramente de la capacidad estructurante y organizadora del arquetipo del Padre.

O texto discute a crescente incidência de autismo no mundo, apresenta uma compreensão do autismo do ponto de vista da psicologia analítica e reflete sobre o tratamento de pacientes autistas. Hoje, entende-se que o autismo faz parte de um continuum de características em um espectro com causas biológicas e congênitas. É um quadro inespecífico resultante de múltiplas causas de fatores não lineares. O autismo é um transtorno do neurodesenvolvimento caracterizado por uma tríade de sintomas: déficits persistentes na comunicação social, na interação social; e padrões restritos e repetitivos de comportamentos, interesses ou atividades. O transtorno do espectro do autismo deve ser considerado como uma entidade clínica, com características atuais razoavelmente definidas. É uma condição extremamente complexa, que requer abordagens multidisciplinares visando a possibilidade de prognóstico e abordagens terapêuticas eficazes. Possivelmente, ocorre um distúrbio a partir da fase intrauterina, na qual as experiências matriarcais não se constelam. A função estruturante da organização patriarcal pode se tornar dominante e as pessoas com autismo precisam de compreensão e ajuda para organizar seu mundo e aprender a viver nele. Como eles não têm a capacidade de estruturar a consciência através do arquétipo matriarcal, eles dependem inteiramente da capacidade de estruturação e organização do arquétipo do Pai.

Challenges on Diagnoses and Assessments Related to Autism Spectrum Disorder in Brazil: A Systematic Review.

Being a continental country, with over 210 million citizens, Brazil is similar to all of those who are part of the LAMIC (Low and middle income countries). It shows a big concentration of wealth, mainly in its south and southeast regions, as well as areas with immense poverty. In that sense, the health system also faces a huge amount of contrast. Inside University hospitals and facilities there are sophisticated tools and trained doctors prepared to assist in any kind of medical subject, including autism. But, unfortunately, at other times, the access to a good health system is made much harder. This results in many issues in the medical community, e.g., looking at the data regarding autism, there is a high average of the age of diagnosis. Another issue is the low number of professionals trained in ASD diagnosis and the few tools translated to Portuguese.