Abordaje de los trastornos del sueño en los trastornos del neurodesarrollo / Treatment of sleep disorders in neurodevelopmental disorders

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.

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.

Trastorno por Déficit de Atención/Hiperactividad (TDAH) y Trastorno de Tourette (TT): entre la comorbilidad y el diagnóstico diferencial / Attention deficit/hyperactivity disorder (ADHD) and To urette disorder (TD): between comorbidity and differential diagnosis

Resumen El Trastorno de Tourette (TT) y el Trastorno por déficit de atención / hiperactividad (TDAH) son entidades neu ropsiquiátricas que usualmente inician en la infancia. Esta revisión busca colaborar con los clínicos, quienes suelen confrontarse al dilema de saber si existe una comorbilidad o un diagnóstico diferencial, ya que esta pregunta cobra vital importancia en el momento de decidir el tratamiento. Invitamos al colega a revisar nuestros hallazgos, soportados por bases moleculares, fisiológicas y neuroanatómicas, además de los datos epidemiológicos. Al final, brindamos una propuesta de algoritmo diag nóstico que podrá utilizar cuando se encuentre ante síntomas compartidos entre los dos diagnósticos. El TDAH y el TT deben ser intervenidos tempranamente, para mejorar la calidad de vida y funcionalidad del paciente y prevenir secuelas, no solo en niños, niñas y adolescentes (NNA), también a lo largo de la vida.

Abstract Tourette Disorder (TD) and attention deficit hyperac tivity disorder (ADHD) are both major neuropsychiatric conditions that usually begin during infancy. This revision aims to collaborate with pediatricians, who are often confronted with the question of co-mor bidity or differential diagnosis between ADHD and TD. The question becomes urgent when the clinician must decide if he/she can start ADHD or TD treatment. We encourage our colleagues to revise our findings, based in bimolecular and neuroanatomic shared issues in ad dition to updated epidemiological findings. The clinician will find an original proposed algorithm that they can use when the shared symptoms are pres ent in a little patient. TD and ADHD must be intervened early, so we can get better outcomes. The consequences of letting the symptoms increase can generate sequels and handicaps, that can interfere with the quality of life and functionality not only during infancy and adoles cence but also in adult life.

Genética del TDAH en la práctica clínica / Genetics of ADHD in clinical practice

Resumen El trastorno por déficit de atención/hiperactividad (TDAH) es un trastorno del neurodesarrollo complejo y heterogéneo desde una perspectiva causal, clínica y pro nóstica. La investigación refleja su carácter multifactorial con un papel destacado de los factores genéticos. Los estudios poblacionales han señalado históricamente la implicación de numerosas variantes genéticas de escaso tamaño de efecto, las cuales por sí mismas apenas incre mentan el riesgo de TDAH y difícilmente justifican su ele vada heredabilidad. Muchas de ellas están presentes en más del 60% de la población general, lo que sugiere su pa pel modulador más que causal. No obstante, gracias a la irrupción de nuevas técnicas genéticas en los últimos 15 años, se están identificando un mayor número de casos con trastornos genéticos (muchos de ellos monogénicos), cuyas variantes genéticas explican por sí mismas la presencia del TDAH. El estudio detallado de los antecedentes personales y familiares, así como una exploración física completa, puede ayudar a identificar algunos de ellos. La identificación de la causa en este conjunto de casos tiene un valor crucial en el asesoramiento clínico, el consejo genético-familiar y la anticipación pronóstica, así como en la realización o evitación de estudios complementarios y en el diseño del plan terapéutico.

Abstract Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disor der from a causal, clinical and prognostic perspective. Research reflects its multifactorial nature with a promi nent role of genetic factors. Population studies have historically pointed to the involvement of numerous genetic variants of small effect size, which hardly by themselves increase the risk of presenting the disorder and hardly justify its high heritability. Many of them are present in more than 60% of the general population, suggesting their modulatory rather than causal role. However, after the irruption of new genetic techniques in the last 15 years, a greater number of cases are be ing identified with genetic disorders (many of them monogenic), whose genetic variants alone explain the presence of ADHD. A detailed study of the personal and family history, as well as a complete physical examination, can help to identify some of them. The identification of the cause in this group of cases has a crucial value in clinical counseling, genetic-familial counseling and prognostic anticipation, as well as in the performance or avoidance of complementary stud ies and in the design of the intervention plan.

Translation, cross-cultural adaptation and validation of the Short Screening Instrument for Psychological Problems in Enuresis for use in Brazil (SSIPPE-Br)

Abstract Objective: Enuresis is associated with attentional and emotional comorbidities in 20 to 30 % of cases. The Short Screening Instrument for Psychological Problems in Enuresis (SSIPPE) is a questionnaire that allows the initial screening of these comorbidities. This study aimed to translate, culturally adapt, and validate the SSIPPE for Brazilian children and adolescents (SSIPPE-Br). Methods: Six steps were performed for translation and cross-cultural adaptation: translation, synthesis of translations, back-translation, preparation of the pre-final version of the translated instrument, test of comprehensibility of the pre-final version of the tool, and elaboration of the instrument cross-culturally adapted for Brazil, named 13-itens version SSIPPE-Br. To validate the SSIPPE-Br, a cross-sectional study was carried out, in which the validated Brazilian version of the Child and Adolescent Behavior Inventory (CABI) was used. Results: Validation was performed on 127 children and adolescents with a mean age of 9.7 ± 2.8 years, 48 % male. The reliability was estimated using Cronbach's alpha, ranging from 0.86 to 0.89, indicating good internal consistency. The factorial analysis had a good agreement adjustment (KMO 0.755, Bartlett's test < 0.001) and explained 70.5 % of the data variability. In the reproducibility analysis, the Kappa coefficient ranged from 0.94 to 1, which can be considered almost perfect. A highly significant (p-value < 0.001) and direct correlation existed between the three SSIPPE-Br domains and all evaluated CABI domains. Conclusion: The SSIPPE-Br is a valid and reliable tool for emotional problems screening and ADHD symptoms in children and adolescents with enuresis whose first language is Brazilian Portuguese.

Attention-deficit/hyperactivity disorder in Mozambique: an epidemiological investigation in a primary school sample

Objective: To evaluate the prevalence of attention-deficit/hyperactivity disorder (ADHD), comorbidity rates with disruptive behavior disorders and main negative outcomes in primary school students in Nampula, Mozambique. Methods: We selected a random sample of 748 students for ADHD screening from a population of around 43,000 primary school students. The Swanson, Nolan, and Pelham Rating Scale version IV was applied to both parents and teachers. All students who screened positive (n=76) and a propensity score-matched random subset of students who screened negative (n=76) were assessed by a child psychiatrist. Results: The prevalence of ADHD was estimated at 13.4% (95%CI 11.5-19.2), and 30.6% of those with ADHD presented comorbid disruptive behavior disorders. Students with ADHD (n=36) had significantly higher rates of both substance use (alcohol, marijuana) (p < 0.001), and school failures than controls (n=96; p < 0.001). Comorbidity between ADHD and disruptive behavior disorders increased the chance of substance use (p < 0.001). Secondary analyses with more restrictive ADHD diagnostic criteria revealed a lower prevalence rate (6.7%; 95%CI 5.2-12.9) with similar patterns of associated factors and negative outcomes. Conclusion: Our findings demonstrated that ADHD is a prevalent mental disorder in Mozambique, and it is associated with similar comorbid profiles, predisposing factors, and negative outcomes, as in other cultures.

Self-reported attention and hyperactivity symptoms among adults with epilepsy / Sintomas de desatenção e hiperatividade autorrelatados entre adultos com epilepsia

Abstract Background Patients with epilepsy (PWE) frequently have comorbid psychiatric disorders, the most common of which are depression and anxiety. Attention deficit disorder with hyperactivity (ADHD) is also more frequent among PWE, though that condition has been scarcely studied among the adult PWE population. Objective This study aimed to compare the presence of ADHD symptoms between adult PWE and the general population. Methods This was an observational case-control study. Ninety-five adult PWE from a tertiary center in southern Brazil were compared with 100 healthy controls. All subjects were submitted to three structured scales: 1) the World Health Organization Adult ADHD Self-Report Scale version 1.1 (ASRS); 2) the Hospital Anxiety and Depression Scale (HADS); and 3) the Adverse Events Profile (AEP). Dichotomic variables were analyzed through chi-square test and Fisher's exact test, as appropriate, and non-parametric variables were analyzed through the Mann-Whitney U test. Results Medians and interquartile ranges (IR) were: 1) ASRS: 26.00 (IR: 18 to 38) among PWE versus 17.00 (IR: 11 to 24) among controls, p< 0.001; 2) HADS: 14.00 (IR: 8 to 21) among PWE versus 11.00 (IR: 8 to 16) among controls, p= 0.007; 3) AEP: 3800 (IR: 31 to 49) among PWE versus 33.00 (IR: 23 to 43) among controls, p= 0.001. Conclusion PWE showed a higher burden of symptoms of ADHD, depression, and anxiety when compared with controls, which replicates in the Brazilian population the findings of current literature that point toward a higher prevalence of such disorders among PWE.

Resumo Antecedentes Pacientes com epilepsia (PCE) frequentemente apresentam comorbidades psiquiátricas, principalmente depressão e ansiedade. O transtorno do déficit de atenção e hiperatividade (TDAH) também é mais frequente nos PCE, porém foi pouco estudado na população adulta de PCE. Objetivo Comparar a presença de sintomas de TDAH entre PCE adultos e a população geral. Métodos Noventa e cinco PCE adultos de um centro terciário no Sul do Brasil foram comparados a 100 controles saudáveis. Todos os sujeitos foram submetidos a três escalas estruturadas: 1) a Escala Autorrelatada de TDAH em Adultos da Organização Mundial da Saúde, versão 1.1 (ASRS); 2) a Escala Hospitalar de Ansiedade e Depressão (HADS); e 3) o Perfil de Eventos Adversos (AEP). Variáveis dicotômicas foram analisadas através dos testes chi-quadrado e exato de Fisher, conforme apropriado, e as variáveis não paramétricas foram analisadas através do teste U de Mann-Whitney. Resultados As medianas e os intervalos interquartis (IIQ) foram: 1) ASRS: 26.00 (IIQ: 18 a 38) em PCE versus 17.00 (IIQ: 11 a 24) nos controles, p< 0,001; 2) HADS: 14.00 (IIQ: 8 a 21) em PCE versus 11.00 (IIQ: 8 a 16) nos controles, p= 0,007; 3) AEP: 38.00 (IIQ: 31 a 49) em PCE versus 33.00 (IIQ: 23 a 43) nos controles, p= 0,001. Conclusão PCE apresentaram uma maior carga de sintomas de TDAH, depressão e ansiedade quando comparados aos controles, o que replica na população brasileira os achados da literatura atual, que apontam para uma maior prevalência de tais transtornos entre PCE.

A tomada de decisão no tratamento de crianças com indicadores de TDAH / Toma de decisiones en el tratamiento de niños con indicadores de TDAH / Decision making in the treatment of children with ADHD indicators

RESUMO O diagnóstico de Transtorno de Déficit de Atenção e Hiperatividade - TDAH é bastante complexo, podendo ser influenciado por fatores contextuais, e seu tratamento pode envolver diferentes intervenções. A participação dos usuários nas decisões a respeito do tratamento vem sendo promovida por instituições de diversos países e, no Brasil, é prevista pelas legislações do Sistema Único de Saúde. Este estudo investigou o processo de tomada de decisão no tratamento de crianças com indicadores de TDAH a partir da percepção de oito profissionais de serviços públicos de saúde mental, que foram entrevistados individualmente. Os dados foram examinados através da análise temática, revelando desafios relativos ao excesso de demanda nos serviços e à complexidade do processo diagnóstico. O envolvimento de usuários e familiares nas decisões foi percebido como parcial, ocorrendo geralmente após a elaboração do plano terapêutico pelas equipes, e envolvendo dificuldades na comunicação entre profissionais e pacientes e divergências de interesses entre as crianças e seus familiares. Esses aspectos poderão ser abordados em futuros estudos e intervenções a fim de facilitar e melhorar a qualidade da tomada de decisão nesse contexto.

RESUMEN El diagnóstico del trastorno por déficit de atención con hiperactividad - TDAH es bastante complejo y puede verse influenciado por factores contextuales, y su tratamiento puede implicar diferentes intervenciones. La participación de los usuarios en las decisiones sobre tratamiento ha sido promovida por instituciones de diferentes países y, en Brasil, está prevista por las leyes del Sistema Único de Salud. Este estudio investigó el proceso de toma de decisiones en el tratamiento de niños con indicadores TDAH desde la percepción de 8 profesionales de la salud mental pública, que fueron entrevistados individualmente. Los datos fueron examinados a través del análisis temático, revelando desafíos relacionados con el exceso de demanda en los servicios y la complejidad del proceso de diagnóstico. La implicación de los usuarios y familiares en las decisiones se percibió como parcial, ocurriendo generalmente después de la elaboración del plan terapéutico por los equipos, y implicando dificultades en la comunicación entre profesionales y pacientes y divergencias de intereses entre los niños y sus familias. Estos aspectos pueden abordarse en futuros estudios e intervenciones con el fin de facilitar y mejorar la calidad de la toma de decisiones en este contexto.

ABSTRACT The diagnosis of Attention Deficit Hyperactivity Disorder - ADHD is quite complex. Contextual factors may influence it, and its treatment may involve different interventions. Institutions in several countries have promoted the participation of users in treatment decisions. In Brazil, it is provided by the Unified Health System. This study investigated the decision-making process in treating children with ADHD indicators from the perception of 8 public mental health services professionals interviewed individually. Data were examined through thematic analysis, revealing challenges related to excessive demand for services and the complexity of the diagnostic process. The involvement of users and family members in the decisions was perceived as partial, generally occurring after elaborating the therapeutic plan by the teams, and involving difficulties in communication between professionals and patients and differences of interests between children and their families. These aspects may be addressed in future studies and interventions to facilitate and improve the quality of the decision-making process in this context.

Evaluation of ocular surface in children with attention deficit hyperactivity disorder with respect to methylphenidate treatment / Avaliação da superfície ocular em crianças com transtorno de déficit de atenção com hiperatividade em relação ao tratamento com metilfenidato

ABSTRACT Purpose: This study aimed to screen the ocular surface of children with attention deficit hyperactivity disorder and identify the adverse effects of methylphenidate related to dry eye disease. Methods: This cross-sectional study included children with attention deficit hyperactivity disorder and healthy children (all aged 5-18 years). They were randomized into Group A (without methylphenidate treatment), Group B (with methylphenidate treatment), and Group C (healthy children). Tear film break-up time, Ocular Surface Disease Index questionnaire, tear meniscus height, tear meniscus area, and Schirmer test results were evaluated. Furthermore, symptom severity in attention deficit hyperactivity disorder was assessed by Turgay DSM-IV-based Child and Adolescent Behavioral Disorders Screening and Rating Scale and Conners Parent Rating Scale-48. Results: Groups A, B, and C consisted of 34, 40, and 60 individuals (n=34, 40, and 60 eyes; age=11.44 ± 2.79, 11.70 ± 2.83, and 11.96 ± 3.63 years, median age=12, 12, and 11.5 years), respectively. Tear film break-up time, Ocular Surface Disease Index, tear meniscus height, tear meniscus area, and Schirmer test results were not significantly different between Groups A and C (p=0.964, 0.336, 0.445, 0.439, and 0.759, respectively). However, Group B showed a significant decrease in tear film break-up time (10.50 ± 3.39 vs. 12.52 ± 2.46 s; p=0.005), tear meniscus height (307.40 ± 5.53 vs. 310.82 ± 7.30 µm; p=0.025), tear meniscus area (0.024 ± 0.0037 vs. 0.026 ± 0.0046 mm2; p=0.010) and Schirmer test (12.75 ± 3.96 vs. 15.41 ± 3.75 mm; p=0.004) results compared with Group A. Conclusion: Compared with healthy children, children with attention deficit hyperactivity disorder showed ocular surface parameters suggestive of dry eye disease despite taking methylphenidate. Thus, they require close ophthalmologic follow-up to prevent sight-threatening dry eye complications.

RESUMO Objetivos: Este estudo teve como objetivo examinar a superfície ocular de crianças com transtorno de déficit de atenção com hiperatividade e identificar os efeitos adversos do metilfenidato relacionados à síndrome do olho seco. Métodos: Este estudo transversal incluiu crianças com transtorno de déficit de atenção e hiperatividade e crianças saudáveis (todas entre 5-18 anos de idade). Elas foram randomizadas no Grupo A (sem tratamento com metilfenidato), Grupo B (com tratamento com metilfenidato) e Grupo C (crianças saudáveis). Foram avaliados o tempo de ruptura do filme lacrimal, questionário sobre Índice de Doenças de Superfície Ocular (IDSO), altura do menisco lacrimal, área do menisco lacrimal e os resultados do teste de Schirmer. Além disso, a gravidade dos sintomas no transtorno de déficit de atenção com hiperatividade foi avaliada usando a Turgay DSM-IV-based Child and Adolescent Behavioral Disorders Screening and Rating Scale com base na escala de Conners Parent Rating Scale-48. Resultados: Os Grupos A, B e C consistiram de 34, 40 e 60 indivíduos (n=34, 40 e 60 olhos; idade=11,44 ± 2,79, 11,70 ± 2,83 e 11,96 ± 3,63 anos, idade média=12, 123 e 11,5 anos), respectivamente. O tempo de ruptura do filme lacrimal, o Índice de Doença da Superfície Ocular, as altura do menisco lacrimal, a área do menisco lacrimal e o teste de Schirmer não foram significativamente diferentes entre os Grupo A e C (p=0,964, 0,336, 0,445, 0,439 e 0,759, respectivamente). Entretanto, o Grupo B mostrou uma redução significativa no tempo de ruptura do filme lacrimal (10,50 ± 3,39 vs 12,52 ± 2,46 seg; p=0,005), altura do menisco lacrimal (307,40 ± 5,53 vs 310,82 ± 7,30 µm; p= 0,025), área do menisco lacrimal (0,024 ± 0,0037 vs 0,026 ± 0,0046 mm2; p=0,010) e teste de Schirmer (12,75 ± 3,96 vs 15,41 ± 3,75 mm; p=0,004), resultados com0arados com o Grupo A. Conclusão: Em comparação com crianças saudáveis, crianças com transtorno de déficit de atenção com hiperatividade apresentaram parâmetros de superfície ocular sugestivos de olho seco, apesar do uso de metilfenidato. Assim, elas requerem um acompanhamento oftalmológico próximo para evitar complicações oculares de olho seco que ameaçam a visão.

Characteristics and relationship between the development of gross motor skills and executive function in children with attention deficit hyperactivity disorder / 中国康复理论与实践

ObjectiveTo investigate the developmental characteristics of gross motor skills and executive functions, and the correlation between them in school-age children with attention deficit hyperactivity disorder (ADHD). MethodsFrom November, 2020 to May, 2021, 90 children with ADHD were recruited from Peking University Sixth Hospital and Beijing Haidian Wanquan Primary School, and other 90 children with normal development from this primary school were recruited matched their age and gender. Gross motor skills were assessed with the Test of Gross Motor Development in Children, Third Edition (TGMD-3), and inhibitory control, working memory, and cognitive flexibility were assessed with Stroop Color Words Test (SCWT), Rey-Osterrich Complex Figure Test (ROCFT) and Trail Making Test (TMT), respectively. ResultsThe TGMD-3 score was significantly lower in children with ADHD than in normal children (t = -6.275, P < 0.001), while the test results of SCWT, ROCFT and TMT were worse (|t| ≥ 1.986, P ≤ 0.05). The TGMD-3 score of children with ADHD was negatively correlated with the word sense reaction time (r = -0.261), the number of word sense errors (r = -0.404) and the number of color errors (r = -0.326) (P < 0.05), positively correlated with the delayed structural memory scores (r = 0.228) (P < 0.05), and negatively correlated with the TMT-A reaction time (r = -0.255), the number of TMT-A errors (r = -0.329), TMT-B reaction time (r = -0.214) and the number of TMT-B errors (r = -0.474) (P < 0.05). Stratified linear regression analyses showed that the TGMD-3 score of children with ADHD was significant only in predicting test results for inhibitory control and cognitive flexibility (P < 0.05), with explanations of 8.7% and 22.5%, respectively. ConclusionDevelopments of both gross motor skills and executive function delay in children with ADHD, and there is a relation between them, especially the level of gross motor skills relating to the developments of inhibitory control and cognitive flexibility.

Association of attention deficit hyperactivity disorder symptoms and bullying behavior in children / 中国学校卫生

Objective@#The association between school bullying and attention deficit hyperactivity disorder (ADHD) symptoms among students in primary schools and the moderating role of gender was explored to provide scientific evidence for the prevention and control of school bullying.@*Methods@#A total of 4 764 students from 2 primary schools in Wuhan were selected using the convenience sampling method in March 2023. The Olweus Bully/Victim Questionnaire and Strengths and Difficulties Questionnaire were used. A Pearson χ 2 test was used to compare differences in school bullying rates among children with and without ADHD symptoms. Pearson correlation analysis and Process 3.3 were used to analyse the association between ADHD symptoms, and school bullying behaviour and the moderating role of gender.@*Results@#The reported rate of bullying victims in primary schools was 24.2% and the rate of bullying perpetration was 3.8%. The rate of ADHD symptom detection among primary school students was 5.9%. ADHD symptoms were positively associated with bullying and bullying victim behaviour ( r =0.16, 0.27, P <0.01). Specifically, the association between ADHD symptoms and bullying behavior tended to be stronger among boys than girls ( β boy =0.17, t =11.13; β girl =0.07, t =4.11, P <0.01).@*Conclusions@#ADHD symptoms are an important factor influencing school bullying behaviors in students, and gender moderates the association. In the process of preventing and controlling school bullying, ADHD symptoms and gender differences should be emphasized and comprehensive interventions should be implemented.

Modelo de orientación familiar en la prevención del trastorno por déficit de atención e hiperactividad

El presente trabajo está dirigido a exponer elementos inherentes de un modelo de orientación familiar en la prevención del trastorno por déficit de atención/hiperactividad en la primera infancia. Deriva de una investigación que se ejecuta en la especialidad de Rehabilitación en Salud, adscrita a la Universidad de Ciencias Médicas de Camagüey. Se emplearon métodos teóricos como: el análisis y síntesis, inductivo-deductivo y el método sistémico estructural funcional para fundamentar el carácter de sistema del modelo y su diseño. Se concluye con el establecimiento de un modelo estructurado por dos subsistemas. Las relaciones de coordinación y complementariedad establecidas posibilitaron la extrapolación cognitiva para la orientación familiar en la prevención del trastorno referido.

The present work is aimed at exposing inherent elements of a family counseling model in the prevention of attention deficit/hyperactivity disorder in early childhood. It derives from research carried out in the specialty of Health Rehabilitation, attached to the University of Medical Sciences of Camagüey. Theoretical methods such as: analysis and synthesis, inductive-deductive and the structural-functional systemic method were used to substantiate the system character of the model and its design. It concludes with the establishment of a model structured by two subsystems. The established coordination and complementarity relationships enabled cognitive extrapolation for family guidance in the prevention of the aforementioned disorder.

Mercurio y trastornos del neurodesarrollo en niños: una revisión sistemática / Mercury and neurodevelopmental disorders in children: A systematic review

El mercurio es un metal tóxico que puede atravesar la placenta y la barrera hematoencefálica, y causar la interrupción de varios procesos celulares. Estudios han investigado la exposición al mercurio y trastornos en el neurodesarrollo, por lo que se requiere un análisis crítico y riguroso de esta evidencia. El objetivo de esta revisión fue evaluar la evidencia científica disponible sobre los efectos de la exposición al mercurio durante las etapas prenatal y posnatal, y su relación con el desarrollo de trastornos neuroconductuales. Se realizó una búsqueda sistemática en las bases de datos MEDLINE y ScienceDirect; los resultados se presentaron a través de tablas y síntesis narrativa. Solo 31 estudios cumplieron los criterios de elegibilidad. En general, la evidencia es limitada sobre los efectos de la exposición al mercurio y trastornos del neurodesarrollo en niños. Entre los posibles efectos reportados, se hallan problemas en el aprendizaje, autismo y trastorno por déficit de atención e hiperactividad.

Mercury is a toxic metal which can cross the placenta and the blood-brain barrier and cause the disruption of various cellular processes. Studies have investigated mercury exposure and neurodevelopmental disorders; therefore, a critical and rigorous analysis of this evidence is required. The objective of this review was to evaluate the available scientific evidence on the effects of mercury exposure during the prenatal and postnatal periods and its relationship with the development of neurobehavioral disorders. A systematic search of the MEDLINE and ScienceDirect databases was conducted; the results were presented in tables and narrative synthesis. Only 31 studies met the eligibility criteria. Overall, the evidence on the effects of mercury exposure and neurodevelopmental disorders in children is limited. Learning disabilities, autism, and attention deficit hyperactivity disorder were some of the reported potential effects.

Déficit de atención con hiperactividad: farmacoterapia a través de la vida / Attention deficit hyperactivity: pharmacotherapy through life

Resumen El Trastorno por déficit de atención con hiperactivi dad (TDAH) es un trastorno del neurodesarrollo de ori gen biológico con una base genética del 70 al 80%, que afecta al 5% de niños y adolescentes y a un 2.5% de los adultos, cuyos síntomas principales son la inatención, hiperactividad e impulsividad. Por muchos años se pensó que afectaba solo a los niños; actualmente en el DSM 5 se acepta que se puede diagnosticar en adolescentes y adultos. El tratamiento debe ser individualizado, los objetivos principales son mejorar los síntomas centrales de las personas con TDAH, y su calidad de vida. El abordaje terapéutico es psicológico, conductual y farmacológico. Los medicamentos se clasifican en estimulantes y no estimulantes, siendo los de primera línea los estimu lantes tales como el metilfenidato, lisdexanfetamina y dexanfetamina. Entre los no estimulantes se cuentan a la guanfacina y atomoxetina. El tratamiento es funda mental porque mejora la calidad de vida de la persona a nivel familiar, educativo, laboral y social.

Abstract Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder of biological origin with a 70 to 80% genetic basis, which affects 5% of children and adolescents and 2.5% of adults, whose main symptoms are inattention, hyperactivity, and impulsivity. For many years it was thought that it only affected children; currently in the DSM 5 it is accepted that it can be diagnosed in adolescents and adults. Treatment must be individualized, the main objec tives are to improve the core symptoms of people with ADHD, and their quality of life. The therapeutic approach is psychological, behavioral, and pharmacological. Medications are classified as stimulants and non-stimulants, with stimulants such as methylphenidate, lisdexamfetamine, and dexamphetamine being the first line. Non-stimulants include guanfacine and atomox etine. Treatment is essential because it improves the qual ity of life of the person at the family, educational, work, and social levels.

Enfermedades sin diagnostico y enfermedades raras: avances en neurodesarrollo / Rare diseases and undiagnosed diseases: advances in neurodevelopment

Resumen Las enfermedades raras y enfermedades sin diag nóstico se han posicionado en los últimos años como condiciones clínicas que han permitido avanzar el en tendimiento de las funciones de los genes y el im pacto en el desarrollo del individuo. En esta revisión, presentamos como los esfuerzos individuales hechos por muchos años para entender la fisiopatología de en fermedades comunes, enfermedades raras y otras aún más raras, como las enfermedades sin diagnóstico, que se unen hoy para, de manera cooperativa, avanzar en el conocimiento científico. Estos avances en el conoci miento permiten aplicar los avances obtenidos en un grupo de condiciones clínicas a otras con características fenotípicas similares o viceversa. El trabajo conjunto de equipos multidisciplinarios y la comunicación entre clínicos e investigadores proporcionarán oportunidades para proveer mejores oportunidades de tratamiento para pacientes y familias a lo largo de múltiples diagnósticos comunes o raros.

Abstract Rare diseases and undiagnosed diseases have re cently positioned themselves as clinical entities that provide important opportunities to advance our under standing of gene functions and the impact of them in the individual development. In this review, we present how efforts made over years to understand common diseases, rare diseases and even undiagnosed diseases come together today to cooperatively advances scientific knowledge. These advance in science and new acquired knowledge, make possible to apply the advances ob tained in a group of clinical conditions to others with similar phenotypic characteristics or vice versa. The cooperative work of multidisciplinary teams and the communication between clinicians and researchers have and will provide opportunities for better treatments for patients and families across multiple common and rare diseases.

Bidirectional associations between hyperopia, myopia, astigmatism, and strabismus, and attention-deficit/hyperactivity disorder in children: a national population-based cohort study

Objectives: The present study analyzed the reciprocal relationships between four common pediatric ophthalmic diseases (i.e., hyperopia, myopia, astigmatism, and strabismus) and attention‐deficit/hyperactivity disorder (ADHD) in children. Methods: This study enrolled 86,028 children with ADHD and 1,798,673 children without ADHD in the Taiwan Maternal and Child Health Database who were born at any time from 2004 to 2017. Cox proportional hazards regression models were used to estimate the bidirectional relationships of the four ophthalmic diseases with ADHD in children after adjusting for age, sex, and gestational age at birth. Survival curves for time-to-event variables were estimated using the Kaplan-Meier method, and the log-rank test was used to compare the curves. Results: The results indicated that ADHD significantly predicted the occurrence of hyperopia, myopia, astigmatism, and strabismus. Furthermore, hyperopia, myopia, astigmatism, and strabismus significantly predicted the occurrence of ADHD. The time between enrollment and ADHD diagnosis was shorter for patients with ophthalmic diseases than for the control group, and the time between enrollment and ophthalmic disease diagnosis was also shorter for ADHD patients than for the control group. Sex differences were found in the associations between ADHD and ophthalmic diseases. Conclusion: Clinicians should monitor children with ADHD for hyperopia, myopia, astigmatism, and strabismus to ensure appropriate treatment, and vice versa.

Psychopathological Risk in Siblings of Subjects with Attention-Deficit/Hyperactivity Disorder: A cross-Sectional Study

Objective: We aim to determine the prevalence of mental disorders in siblings of children with attention deficit hyperactivity disorder (ADHD), and to determine how psychosocial adversity factors relate to this psychopathology, in a low-middle income country (Colombia). Methods: We evaluated subjects with ADHD diagnosed according to the DSM-5 criteria, one of their parents and one of their siblings (ages 8-19). We used the ADHD rating scale and a set of instruments to assess the presence of mental disorders as well as psychosocial adversity. Results: We evaluated 74 trios formed by the index case with ADHD, one sibling and one of the parents. We found that 24.3% of the participating siblings also met the criteria for ADHD and another 24.3% for other psychiatric disorders. The risk of these siblings having ADHD increased further when one of the parents reported a history of ADHD. We also found that 28.3% of the families faced high levels of psychosocial adversity as per their scores in the Rutter Adversity Index. Conclusions: Siblings of subjects with ADHD showed a significant risk for ADHD and other mental disorders. That risk increased if a parent reported a history of ADHD and also when two or more psychosocial adversity factors were present. This study supports the importance of early detection in efforts to decrease the risk for other siblings.

Objetivo: Nuestro objetivo es determinar la prevalencia de trastornos mentales en hermanos de casos con TDAH y cómo los factores de adversidad psicosocial se relacionan con esta psicopatología en un país de ingresos bajos-medios (Colombia). Métodos: Se evaluó a sujetos con TDAH diagnosticado según los criterios del DSM-5, uno de sus padres y uno de sus hermanos (edades, 8-19 anos). Mediante la escala de calificación del TDAH y un conjunto de otros instrumentos se evaluó la presencia de trastornos mentales y adversidad psicosocial. Resultados: Se evaluó a 74 tríos formados por el caso índice con TDAH, un hermano y uno de los padres. Se halló que un 24,3% de los hermanos participantes también cumplían los criterios de TDAH y otro 24,3%, otros trastornos psiquiátricos. El riesgo de que estos hermanos tuvieran TDAH aumentó aún más cuando uno de los padres informó antecedentes de TDAH. También, que el 28,3% de las familias se enfrentaron a altos niveles de adversidad psicosocial según sus puntuaciones en el Índice de Adversidad de Rutter. Conclusiones: Los hermanos de sujetos con TDAH mostraron un significativo riesgo de TDAH y otros trastornos mentales. Ese riesgo aumenta si uno de los padres reporta antecedentes de TDAH y también cuando se presentan 2 o más factores de adversidad psicosocial. Este estudio respalda la importancia de la detección temprana con el fin de disminuir el riesgo para otros hermanos.

Evolución de menores diagnosticados con trastorno de déficit de atención e hiperactividad. Estudio de seguimiento en una muestra española / Evolution of children diagnosed with attention deficit/hyperactivity disorder. Follow-up study in a Spanish sample

Resumen Antecedentes: El trastorno de déficit de atención e hiperactividad (TDAH) constituye una condición crónica con riesgos asociados a largo plazo. Objetivo: Analizar el estado clínico, la ocupación y las dificultades de la vida diaria de dos cohortes de niños con diagnóstico de TDAH (2004 y 2009) después cinco y 10 años. Material y método: Estudio descriptivo y longitudinal de la base de datos WOMI correspondiente a Oviedo, Asturias, España. Se incluyeron niños detectados con TDAH por su pediatra de atención primaria. Se solicitó una entrevista telefónica voluntaria de seguimiento. Las variables de resultado fueron estado clínico y ocupacional al momento de la entrevista, síntomas de TDAH según SNAP-IV y Cuestionario de Fortalezas y Dificultades (SDQ). Resultados: La muestra entrevistada estuvo formada por 95 sujetos, de los cuales 71 respondieron a los cuestionarios SNAP-IV y SDQ; 60.7 % de la muestra no recibía tratamiento en el momento del seguimiento, 4.7 % no tenía ninguna ocupación, 25.4 % mantenía síntomas globales de TDAH en nivel superior al punto de corte clínico y 66.2 % presentaba dificultades con interferencia moderada. Conclusiones: Los síntomas del TDAH disminuyen conforme las personas crecen. Las comorbilidades de salud mental y el abandono académico no se confirmaron en la muestra.

Abstract Background: Attention deficit/hyperactivity disorder (ADHD) is a chronic condition with long-term associated risks. Objective: To analyze the clinical status, occupation, and daily life difficulties of two cohorts of children diagnosed with ADHD (2004 and 2009) after five and 10 years. Material and method: Descriptive, longitudinal study using the WOMI database corresponding to Oviedo, Asturias, Spain. Children with ADHD detected by their primary care pediatrician were included. A voluntary follow-up telephone interview was requested. Outcome variables were current clinical and occupational status, ADHD symptoms according to SNAP-IV, and Strengths and Difficulties Questionnaire (SDQ). Results: The interviewed sample consisted of 95 subjects, out of whom 71 answered the SNAP-IV and SDQ questionnaires; 60.70% of the sample did not receive treatment at the time of follow-up, 4.7% had no occupation, 25.40% still had ADHD global symptoms above the clinical cutoff point, and 66.2% had difficulties with moderate interference. Conclusions: ADHD symptoms decline as people grow up. Mental health comorbidities and academic dropout were not confirmed in the sample.

Trastornos de la infancia y características sociodemográficas asociadas a la depresión en adultos en una ciudad de Colombia / Childhood disorders and sociodemographic characteristics associated with depression in adults from a Colombian city / Transtornos da infância e características sócio-demográficas associadas à depressão em adultos de uma cidade colombiana

Introducción: Los trastornos emocionales y del comportamiento que se inician en la infancia llevan a cambios que se extienden hasta la edad adulta, con consecuencias sociales. Objetivo: Determinar la asociación de la depresión en la adultez con trastornos mentales de inicio en la infancia y otras condiciones, en Envigado, 2017. Materiales y métodos: Estudio con enfoque cuantitativo, tipo observacional, transversal con intención analítica. El tamaño de la muestra fue de 737 individuos, entre 18 y 65 años. Se aplicó el instrumento CIDI - CAPI de la OMS. El procesamiento y análisis se llevó a cabo en SPSS v. 21 de la Universidad CES y Epidat 4.2. Resultados: La proporción de depresión en la adultez es de 10,8%, en la población de estudio que tuvo antecedente de trastorno por déficit de atención e hiperactividad (TDAH) fue aproximadamente 5,6 veces más que en aquellos que no tenían este antecedente (OR= 6,62; IC95% 1,92-22,7). Conclusiones: El TDAH en la infancia incrementa la probabilidad de presentar depresión en la adultez en la población de Envigado, lo cual soporta la importancia de promover acciones de salud mental en la niñez, para prevenir la depresión en la edad adulta.

Introduction: Emotional and behavioral disorders that begin in childhood lead to adult changes, which have social consequences. Objective: To determine the association of adult depression with childhood onset of mental disorders and other factors in Envigado (Colombia). Materials and methods: A quantitative observational and cross-sectional study was carried out. The sample size was 737 individuals aged between 18 to 65 years. The CIDI-CAPI instrument of the WHO was used. Data processing and analysis was conducted through SPSS v. 21 software from the CES University and Epidat 4.2. Results: The percentage of depression in adults was 10.8%. This figure was 5.6 times greater in the study population that had history of attention deficit hyperactivity disorder (ADHD) compared to individuals who did not have this disorder (OR= 6.62; 95% CI 1.92-22.7). Conclusions: Childhood ADHD increases the probability of depression in the adult population of Envigado, which supports the importance of promoting mental health programs in children in order to prevent adulthood depression.

Introdução: Os transtornos emocionais e comportamentais que se iniciam na infância levam a alterações que se estendem até a idade adulta, com consequências sociais. Objetivo: Determinar a associação da depressão na idade adulta com transtornos mentais de início na infância e outras condições, em Envigado, 2017. Materiais e métodos: um estudo foi realizado com abordagem quantitativa, observacional, transversal e com intenção analítica. O tamanho da amostra foi de 737 indivíduos, entre 18 e 65 anos de idade. Foi aplicado o instrumento CIDI - CAPI da OMS. O processamento e análise foram realizados no SPSS v. 21 da Universidad CES e Epidat 4.2. Resultados: A proporção de depressão na idade adulta é de 10,8%, na população estudada que tinha histórico de transtorno de déficit de atenção e hiperatividade (TDAH) foi aproximadamente 5,6 vezes maior do que naquelas sem esse histórico (OR= 6,62; 95 % CI 1,92-22,7). Conclusões: O TDAH na infância aumenta a probabilidade de apresentar depressão na idade adulta na população de Envigado, o que reforça a importância de promover ações de saúde mental na infância, para prevenir a depressão na idade adulta.

Estudios neurofisiológicos en los trastornos del neurodesarrollo: potenciales evocados cognitivos / Neurophysiological studies in neurodevelopmental disorders: event related potentials

Resumen El trastorno por déficit de atención con hiperactividad (TDAH) y el trastorno del espectro autista (TEA) son trastornos del neurodesarrollo cuyo diagnóstico es clínico y con gran variabilidad en la presentación clínica. La posibilidad de identificar y validar biomarcadores en estos trastornos del neurodesarrollo ayudaría no sólo en su diagnóstico sino también a la hora de implementar tratamientos personalizados y mo nitorizar la respuesta al tratamiento. Exploraciones neurofisiológicas como los potenciales evocados cognitivos (PEC), son una de las herramientas más utilizadas para evaluar de forma objetiva y con una alta resolución temporal las funciones cognitivas y proporcionan información sobre los mecanismos neurobiológicos subyacen tes, por lo que constituyen una herramienta de gran utilidad para valorar las alteraciones cognitivas asociadas a los trastornos del neurodesarrollo. Se han utilizado diferentes componentes de los PEC para el estudio de los trastornos del neurodesarrollo, como el componente P300, N400 o el componente N170 como biomarcador de la disfunción social en TEA. Revisamos los principales componentes de los PEC que se han estudiado como herramientas complementarias en el diagnóstico y en la monitorización de los tratamientos en los trastornos del neurodesarrollo.

Abstract Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are neurodevel opmental disorders whose diagnosis is clinical and with great variability in clinical presentation. The possibility of identifying and validating biomarkers in these neurodevelopmental disorders would help not only in their diagnosis, but also when implementing personalized treatments and monitori ng the response to treatment. Neurophysiologi cal examinations such as event related potentials (ERP) are one of the most widely used tools to objectively assess cognitive functions with high temporal resolution and provide information on the underlying neurobiological mechanisms, making them a very useful tool to assess cognitive alterations associated with neurodevelopmental disorders. Different components of the ERP have been used for the study of neurodevelopmental disorders, such as the P300, N400 component or the N170 component as a biomarker of social dysfunction in ASD. We review the main components of ERP that have been studied as complementary tools in the diagnosis and monitoring of treatments in neurodevelopmental disorders.

The role of psychosocial adversity in the aetiology and course of attention deficit hyperactivity disorder

Introduction: Attention deficit/hyperactivity disorder (ADHD) has genetic and environmental aetiological factors. There are few publications on the environmental factors. The objective of this review is to present the role of psychosocial adversity in the aetiology and course of ADHD. Methods: A search was carried out in the following databases: PubMed, ScienceDirect, SciELO, ClinicalKey, EMBASE, Lilacs, OVID, APA and PsycNET. English and Spanish were selected without being limited by type of study or year of publication. Finally, a qualitative synthesis was conducted. Results: ADHD development could be related to exposure to adverse factors in the family, school or social environment. It has been proposed as an explanatory mechanism that adversity interacts with genetic variants and leads to neurobiological changes. There may also be a gene-environment correlation whereby individual hereditary characteristics increase the risk of exposure to adversity, and indirectly increase the probability of developing ADHD. Research on psychosocial adversity represents a big challenge, not only due to the complexity of its construct, but also to the effect of subjective perception of a given event. Conclusions: ADHD aetiology is complex and involves the interaction of both genetic and environmental factors, in which these factors correlate and cause the disorder. The study of the role of psychosocial adversity in ADHD is fundamental, but it remains a task that entails great difficulties.

Introducción: El trastorno por déficit de atención con hiperactividad (TDAH) tiene factores etiológicos genéticos y ambientales. Hay pocas publicaciones acerca de los factores ambientales. El objetivo de esta revisión es presentar el papel de la adversidad psicosocial en la etiología y el curso del TDAH. Métodos: Se llevó a cabo una búsqueda en las siguientes bases de datos: PubMed, ScienceDi-rect, SciELO, ClinicalKey, EMBASE, Lilacs, OVID, APA y PsycNET. Se seleccionaron artículos en inglés y español sin limitar por tipo de estudio o año de publicación. Finalmente, se hizo una síntesis cualitativa. Resultados: El desarrollo del TDAH podría estar relacionado con la exposición a factores adversos en el entorno familiar, escolar o social. Se ha propuesto como mecanismo explicativo que la adversidad interactúa con variantes genéticas y conduce a cambios neurobiológicos. También puede haber una correlación entre gen y ambiente, en la que las características hereditarias individuales aumentan el riesgo de exposición a la adversidad e indirectamente aumentan la probabilidad de sufrir TDAH. La investigación sobre la adversidad psicosocial representa un gran desafío no solo por la complejidad de su constructo, sino también por el efecto de la percepción subjetiva sobre un evento determinado. Conclusiones: La etiología del TDAH es compleja y factores genéticos y ambientales presentan una interacción en la que estos factores se correlacionan y originan el trastorno. El estudio del papel de la adversidad psicosocial en el TDAH es fundamental, pero sigue siendo una tarea que conlleva grandes dificultades.