Genetic predisposition of BDNF (rs6265) gene is susceptible to Schizophrenia: A prospective study and updated meta-analysis / Asociación entre el gen BDNF (rs6265) y predisposición a la esquizofrenia: estudio prospectivo y metaanálisis actualizado

Introduction: Genetic polymorphism in the BDNF gene has been found to cause neuronal alterations and has been identified as a causal factor for many neuropsychiatric disorders. Therefore, various neurological case–control studies and meta-analyses have been conducted to find the possible link between BDNF and susceptibility to schizophrenia. Method: This meta-analysis gathered data from 25 case–control studies including a total of 8384 patients with schizophrenia and 8821 controls in order to identify the relationship between the rs6265 single nucleotide polymorphism and the disease, evaluating the combined odds ratio and 95% confidence intervals under 5 different genetic models. Validation followed the “Leave one out” method, and we used the Egger test and Begg's funnel plot to identify publication bias. Results: Research into the rs6265 (G/A) polymorphism revealed a non-significant association with schizophrenia in all 5 genetic models; in the subgroup analysis, no association was found between white and Asian populations, with a p value > .05. Conclusions: Overall, the updated meta-analysis revealed that rs6265 exonic polymorphisms do not increase susceptibility to this disease. However, to better understand the pathogenesis of the disease, there is a need for further case–control studies into the BDNF polymorphism including larger sample sizes and different ethnic groups.(AU)

Introducción: Se sabe que los polimorfismos del gen BDNF provocan alteraciones neuronales y parecen ser un factor causal en muchos trastornos neuropsiquiátricos. Es por ello que se han llevado a cabo varios metaanálisis y estudios de casos y controles con el objetivo de evaluar la posible relación entre BDNF y la esquizofrenia. Método: Realizamos un metaanálisis de 25 estudios de casos y controles, que incluyó un total de 8.384 pacientes con esquizofrenia y 8.821 controles. Se analizó la relación entre el polimorfismo de nucleótido simple rs6265 y la esquizofrenia mediante odds ratios combinados y sus intervalos de confianza del 95% con 5 modelos genéticos diferentes. Utilizamos el método de validación cruzada dejando uno fuera («leave one out»), la prueba de Egger y el gráfico en embudo de Begg para identificar posibles sesgos de publicación. Resultados: Los estudios sobre el polimorfismo rs6265 (G/A) muestran una asociación no significativa con la esquizofrenia en los 5 modelos genéticos. En el análisis por subgrupos, no se encontró relación con las poblaciones caucásica y asiática (p > 0,05). Conclusiones: La presencia de polimorfismos rs6265 no aumenta la predisposición a desarrollar esquizofrenia. Sin embargo, se deben realizar más estudios de casos y controles sobre polimorfismos de BDNF, con muestras más numerosas y con individuos de diferentes grupos étnicos, para comprender mejor los mecanismos patogénicos de la enfermedad.(AU)

Covid-19 in Parkinson's Disease treated by drugs or brain stimulation / COVID-19 en la enfermedad de Parkinson tratada con fármacos o estimulación cerebral

Purpose: Covid-19 has affected all people, especially those with chronic diseases, including Parkinson's Disease (PD). Covid-19 may affect both motor and neuropsychiatric symptoms of PD patients. We intend to evaluate different aspects of Covid-19 impact on PD patients. Methods: 647 PD patients were evaluated in terms of PD-related and Covid-19-related clinical presentations in addition to past medical history during the pandemic through an online questioner. They were compared with an age-matched control group consist of 673 individuals and a sample of the normal population consist of 1215 individuals. Results: The prevalence of Covid-19 in PD patients was 11.28%. The mortality was 1.23% among PD patients. The prevalence of Covid-19 in PD patients who undergone Deep Brain Stimulation (DBS) was 18.18%. No significant association was found between the duration of disease and the prevalence of Covid-19. A statistically significant higher prevalence of Covid-19 in PD patients who had direct contact with SARS-CoV-19 infected individuals was found. No statistically significant association has been found between the worsening of motor symptoms and Covid-19. PD patients and the normal population may differ in the prevalence of some psychological disorders, including anxiety and sleeping disorders, and Covid-19 may affect the psychological status. Conclusion: PD patients possibly follow tighter preventive protocols, which lead to lower prevalence and severity of Covid-19 and its consequences in these patients. Although it seems Covid-19 does not affect motor and psychological aspects of PD as much as it was expected, more accurate evaluations are suggested in order to clarify such effects.(AU)

Objetivo: La COVID-19 ha afectado a toda la población, especialmente a aquellos con enfermedades crónicas, incluyendo a los pacientes con enfermedad de Parkinson (EP). La COVID-19 puede empeorar tanto los signos motores como los síntomas neuropsiquiátricos de los pacientes con EP. El objetivo de este estudio es evaluar diferentes aspectos del impacto de la COVID-19 en los pacientes con EP. Métodos: A través de un cuestionario virtual se evaluó a 647 pacientes con EP de acuerdo con sus presentaciones clínicas relacionadas con la EP y con la COVID-19, además de la historia médica previa durante la pandemia. Se compararon con un grupo de controles sanos de la misma edad que constaba de 673 individuos y una muestra de la población general de 1.215 individuos. Resultados: La prevalencia de la COVID-19 en pacientes con EP fue del 11,28%. La mortalidad fue del 1,23% entre los pacientes con EP. La prevalencia de COVID-19 en pacientes con EP con estimulación cerebral profunda fue del 18,18%. No se encontró una asociación significativa entre la duración de la enfermedad y la prevalencia de COVID-19. Se halló una prevalencia mayor de COVID-19 que fue estadísticamente significativa en pacientes con EP que tuvieron contacto directo con personas infectadas con SARS-CoV-2. No se encontró una asociación estadísticamente significativa entre el empeoramiento de los signos motores y la COVID-19. Los pacientes con EP y la población general podrían diferir en la prevalencia de algunos trastornos psicológicos, incluidos los trastornos de ansiedad y del sueño, y la COVID-19 podría afectar al estado psicológico. Conclusión: Los pacientes con EP posiblemente sigan protocolos preventivos más estrictos, lo que conduce a una menor prevalencia y gravedad de COVID-19 y de sus consecuencias en estos pacientes.(AU)

Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry.

BACKGROUND: In response to the imperative need for standardized support for adolescent Gender Dysphoria (GD), the Italian Academy of Pediatrics, in collaboration with the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, Italian Society of Adolescent Medicine and Italian Society of Child and Adolescent Neuropsychiatry is drafting a position paper. The purpose of this paper is to convey the author's opinion on the topic, offering foundational information on potential aspects of gender-affirming care and emphasizing the care and protection of children and adolescents with GD. MAIN BODY: Recognizing that adolescents may choose interventions based on their unique needs and goals and understanding that every individual within this group has a distinct trajectory, it is crucial to ensure that each one is welcomed and supported. The approach to managing individuals with GD is a multi-stage process involving a multidisciplinary team throughout all phases. Decisions regarding treatment should be reached collaboratively by healthcare professionals and the family, while considering the unique needs and circumstances of the individual and be guided by scientific evidence rather than biases or ideologies. Politicians and high court judges should address discrimination based on gender identity in legislation and support service development that aligns with the needs of young people. It is essential to establish accredited multidisciplinary centers equipped with the requisite skills and experience to effectively manage adolescents with GD, thereby ensuring the delivery of high-quality care. CONCLUSION: Maintaining an evidence-based approach is essential to safeguard the well-being of transgender and gender diverse adolescents.

Fármacos antipsicóticos de segunda generación y su impacto en el tejido adiposo / Second-generation antipsychotic drugs and their impact on adipose tissue

La esquizofrenia es un trastorno neuropsiquiátrico crónico que afecta a 21 millones de personas en todo el mundo. Actualmente, los fármacos antipsicóticos de segunda generación o atípicos (FASG) son los medicamentos de elección para el tratamiento de esta enfermedad. Sin embargo, a pesar de su alta eficacia en contrarrestar la sintomatología neuropsiquiátrica de la esquizofrenia, observaciones clínicas recientes en pacientes tratados con FASG evidencian un aumento en la prevalencia de diferentes alteraciones metabólicas, entre las que se incluyen el aumento de peso corporal, la hiperglucemia y la dislipidemia. A pesar de que no se conocen en detalle los mecanismos moleculares responsables de estos efectos secundarios, cada vez más investigaciones apuntan a una relación entre los tratamientos con FASG y las alteraciones en los diferentes depósitos de tejido adiposo blanco, marrón y beige. En esta revisión analizamos el conocimiento actual en esta área destacando aspectos moleculares de la biología de los adipocitos, entre los que se encuentran los procesos de diferenciación, metabolismo lipídico, función termogénica y el proceso de pardeamiento o beiging.(AU)

Schizophrenia is a chronic neuropsychiatric disorder that affects 21 million people worldwide. Currently, second-generation or atypical antipsychotics (SGAs) are the first-line medications for the treatment of this disease. However, despite its high efficacy in counteracting the neuropsychiatric symptoms of schizophrenia, recent clinical investigations in patients treated with SGAs show an increase in the prevalence of pivotal metabolic alterations, including increased body weight, hyperglycemia and dyslipidemia. Although the molecular mechanisms responsible for these side effects are not fully understood, cumulative evidences associate SGA administration with alterations in the different adipose tissue depots of white, brown and beige adipocytes. In this review, we have recapitulated the current knowledge in this area with a particular focus on the molecular aspects of the adipocyte biology, including differentiation, lipid metabolism, thermogenic function and browning processes.(AU)

Experiencia Del Abordaje Multidisciplinar Aplicado En El Hospital De Día De Neuropsiquiatría Del Hospital Mare De Déu De La Mercè (Años 2015 A 2022) / [Experience of the Multidisciplinary Approach Applied in the Neuropsychiatry Day Hospital of the Mare De Déu Hospital of La Mercè (Years 2015 to 2022)]

Introducción: El hospital de día de Neuropsiquiatría del Hospital Mare de Déu de la Mercè es un recurso sanitario especializado suprasectorial de régimen diurno, que atiende a personas adultas entre los 18 y 65 años de edad, con deterioro cognitivo debido a un daño cerebral sobrevenido, a uso de sustancias, enfermedad de Huntington o demencias neurodegenerativas de inicio precoz. La duración del ingreso es de 90 días y el objetivo principal es rehabilitador. Las terapias impartidas incluyen estimulación cognitiva, manejo de agenda, adaptación al déficit, manejo de la autonomía, terapia física e inclusión social. El objetivo del manuscrito es presentar la experiencia del abordaje multidisciplinar aplicado durante los años 2015 a 2022, y describir su capacidad resolutiva, entendiéndola como la capacidad para mejorar las habilidades cognitivas, la conducta, el equilibrio físico y la funcionalidad de las personas atendidas.Métodos: La información ha sido obtenida a partir de las valoraciones realizadas según los protocolos de evaluación multidisciplinar del hospital. Se ha realizado una estadística descriptiva y se ha utilizado la prueba t para medias de dos muestras emparejadas para evaluar diferencias significativas entre las valoraciones al ingreso y al alta. La muestra es de 435 personas, con una media de edad de 51.54 años, de las cuales 185 (42.53%) son mujeres. Como instrumentos de medida se han utilizado pruebas de despistaje cognitivo, de evaluación de la conducta, de equilibrio y funcionalidad, y un cuestionario de calidad de vida. Resultados: Se incluyeron un total de 435 personas con los siguientes perfiles diagnósticos: daño cerebral sobrevenido (n = 199), deterioro cognitivo asociado a uso de sustancias (n = 103), enfermedad de Huntington (n = 41), demencias degenerativas de inicio precoz (n = 32), deterioro cognitivo asociado al VIH (n = 2) y deterioro cognitivo no especificado (n = 58). ... (AU)

Introduction: The Neuropsychiatry day hospital of the Mare de Déu de la Mercè Hospital is a specialized suprasectorial daytime health resource, which cares for adults between 18 and 65 years of age, with cognitive impairment due to acquired brain damage, substance use, Huntington's disease, and early-onset neurodegenerative dementias. The duration of admission is 90 days and the main objective is rehabilitation. The therapies provided include cognitive stimulation, agenda management, deficit adaptation, autonomy management, physical therapy and social inclusion. The objective of the manuscript is to present the experience of the multidisciplinary approach applied during the years 2015 to 2022, and describe its resolution capacity, understanding it as the ability to improve the cognitive skills, behavior, physical balance and functionality of the people cared for.Methods: The information has been obtained from the assessments carried out according to the hospital's multidisciplinary evaluation protocols. Descriptive statistics were performed and the t test for means of two paired samples was used to evaluate significant differences between the assessments at admission and at discharge. The sample consists of 435 people, with an average age of 51.54 years, of which 185 (42.53%) were women. Cognitive screening tests, behavioral assessment tests, balance and functionality tests, and a quality of life questionnaire have been used as measurement instruments. Results: A total of 435 people were included with the following diagnostic profiles: acquired brain damage (n = 199), cognitive impairment associated with substance use (n = 103), Huntington's disease (n = 41), early-onset degenerative dementias (n = 32), HIV-associated cognitive impairment (n = 2) and unspecified cognitive impairment (n = 58). ... (AU)

Interventions for psychiatric disorders among university students: An umbrella review of systematic reviews and meta-analyses / Intervenciones para los trastornos psiquiátricos entre estudiantes universitarios: una revisión general de revisiones sistemáticas y metanálisis

Background: Mental disorders are considered to be the main reason for the increase of the disease burden. College students seem to be more vulnerable to the adverse effects of stress, which makes them more at risk of suffering from mental disorders. This umbrella review aimed to evaluate the credibility of published evidence regarding the effects of interventions on mental disorders among university students. Methods: To identify systematic reviews and meta-analyses investigating the effects of interventions on mental disorders in the university student population, extensive searches were carried out in databases including PubMed, Embase, and the Cochrane Database, spanning from inception to July 21, 2023. Subsequently, a thorough reanalysis of crucial parameters such as summary effect estimates, 95 % confidence intervals, heterogeneity I2 statistic, 95 % prediction intervals, small-study effects, and excess significance bias was performed for each meta-analysis found. Results: Nineteen articles involving 74 meta-analyses were included. Our grading of the current evidence showed that interventions based on exercise, Cognitive-behavioural Intervention (CBI), mindfulness-based interventions (MBI), and other interventions like mood and anxiety interventions (MAI) were effective whereas exercise intervention had the highest effect size for both depression and anxiety among university students. However, the credibility of the evidence was weak for most studies. Besides, suggestive evidence was observed for the positive effects of CBI on sleep disturbance(SMD: -0.603, 95 % CI: -0.916, -0.290; P-random effects<0.01) and MAI on anxiety (Hedges'g = -0.198, 95 % CI: -0.302, -0.094; P-random effects<0.01). Conclusion: Based on our findings, it appears that exercise interventions, CBI, and MAI have the potential to alleviate symptoms related to mental disorders...(AU)

Capital sentencing and neuropsychiatry.

The neuropsychiatric contribution to capital sentencing proceedings has grown substantially in recent decades as the consideration of neurological and psychiatric factors in criminal behavior has been increasingly accepted as relevant to the quest for justice. This review article will focus on the legal theories underlying neuropsychiatric input into capital sentencing decisions, as well as some of the investigative techniques and resulting data which may be offered by forensic neuropsychiatrists in this context. The death penalty is unique in its severity and irreversibility, as the courts, including the U.S. Supreme Court, have noted repeatedly. "Death is different," and the recognition of this has generated a set of court decisions and statutes pertinent specifically to capital proceedings, both procedural and substantive.

Online Core Curriculum and Mastery (OCCAM): A Behavioral Neurology & Neuropsychiatry (BNNP) Curricular Needs Assessment.

Behavioral neurology & neuropsychiatry (BNNP) fellowships are accredited by the United Council for Neurologic Subspecialties (UCNS). Programs cover the UCNS-recommended topics differently. A curriculum accessible to all fellowships would standardize education and identify gaps in topics that are less well covered across programs. The purpose of the present needs assessment was to inform the development of the Online Core Curriculum and Mastery: BNNP (OCCAM-BNNP), a website for all UCNS-accredited BNNP programs. Program directors and fellows were surveyed to learn how well topics are covered and identify educational gaps, or specific topics on the UCNS website that are less well represented among programs. Thirty-seven fellowship program directors listed on the UCNS website were invited to take the survey and forward it to both current fellows (graduating in 2021) and recent graduates (graduated from 2015 to 2020). There were 29 responses from 37 programs. Of the 34 topics that respondents rated on a 1-5 Likert scale (from "not covered" to "completely covered"), 15 of 34 (44%) were identified as having >40% of responses as mostly "not covered," "incompletely covered," or "partially covered." Ninety-seven percent of respondents affirmed that it would be useful to have a free web-based resource for BNNP education. Slightly under one-half of all BNNP topics were not well covered. A survey was undertaken to identify and fill the educational gaps indicated by fellowship directors and fellows, and the OCCAM-BNNP website was developed as a repository for relevant content, providing a resource that many BNNP clinicians would find useful.

Dual Residency Training in Neurology and Psychiatry: History and Current Practice.

In the early 20th century, neurology training included more experience in psychiatry, and psychiatry training included more training in neurology than what is currently required. After World War I, the increased need for differential diagnosis of what might now be called functional neurological disorders resulted in the military encouraging combined residency training in neurology and psychiatry and the promulgation of the term "neuropsychiatry" for this specialty. Thirty-six percent of physicians certified by the American Board of Psychiatry and Neurology in its first decade (1935-1945) held certification in both neurology and psychiatry. However, the term neuropsychiatry gradually became used interchangeably with general psychiatry-to distinguish it from psychoanalysis-and lost its specificity. It is widely held that the popularity of psychoanalysis resulted in psychiatrists perceiving less need for neurological knowledge, and inclusion of neurology content in psychiatry training decreased. Dual residency training programs in neurology and psychiatry began to increase in popularity again in the 1980s as advances in neuroscience, neuroimaging, and pharmacology, paired with the growth of behavioral neurology, laid the foundation for meaningful practice of neuropsychiatry. The author surveyed 207 physicians who graduated from both a neurology and psychiatry residency and 18 current trainees in combined neuropsychiatry residency programs to collect information on their current practice, academic activity, and opinions about their training. The response rate was 64%. Respondents' attitudes toward the value of their dual neurology and psychiatry training were overwhelmingly positive. Reasons for the lack of growth of combined residency programs in neurology and psychiatry are examined.

Neuroethics and neurolaw in forensic neuropsychiatry: A guide for clinicians.

As neuroscience technologies develop, ethical and legal questions arise regarding their use and societal impact. Neuroethics and neurolaw are growing interdisciplinary fields that address these questions. This review article presents the research agenda of both areas, examines the use and admissibility of neuroscience in expert testimony and legal settings, and discusses ethical issues related to forensic neuropsychiatrists claiming expertise in neuroscience, formulating medical opinions based on neuroscience, and considering its relevance to criminal responsibility. Forensic neuropsychiatrists should be aware of emerging neuroscientific evidence, its utility and limits in rendering diagnoses and explaining behavior, and, before seeking such evidence for legal purposes, its availability and admissibility. When testifying in matters involving neuroscientific evidence, ensuring truthfulness and balance, having sufficient and validated knowledge (including openness with confirming and disconfirming evidence), understanding standards of practice, and drawing relevant and appropriate conclusions remain important.

Exploring telediagnostic procedures in child neuropsychiatry: addressing ADHD diagnosis and autism symptoms through supervised machine learning.

Recently, there has been an increase in telemedicine applied to child neuropsychiatry, such as the use of online platforms to collect remotely case histories and demographic and behavioral information. In the present proof-of-concept study, we aimed to understand to what extent information parents and teachers provide through online questionnaires overlaps with clinicians' diagnostic conclusions on attention-deficit/hyperactivity disorder (ADHD). Moreover, we intended to explore a possible role that autism spectrum disorders (ASD) symptoms played in this process. We examined parent- and teacher-rated questionnaires collected remotely and an on-site evaluation of intelligence quotients from 342 subjects (18% females), aged 3-16 years, and referred for suspected ADHD. An easily interpretable machine learning model-decision tree (DT)-was built to simulate the clinical process of classifying ADHD/non-ADHD based on collected data. Then, we tested the DT model's predictive accuracy through a cross-validation approach. The DT classifier's performance was compared with those that other machine learning models achieved, such as random forest and support vector machines. Differences in ASD symptoms in the DT-identified classes were tested to address their role in performing a diagnostic error using the DT model. The DT identified the decision rules clinicians adopt to classify an ADHD diagnosis with an 82% accuracy rate. Regarding the cross-validation experiment, our DT model reached a predictive accuracy of 74% that was similar to those of other classification algorithms. The caregiver-reported ADHD core symptom severity proved the most discriminative information for clinicians during the diagnostic decision process. However, ASD symptoms were a confounding factor when ADHD severity had to be established. Telehealth procedures proved effective in obtaining an automated output regarding a diagnostic risk, reducing the time delay between symptom detection and diagnosis. However, this should not be considered an alternative to on-site procedures but rather as automated support for clinical practice, enabling clinicians to allocate further resources to the most complex cases.

The history of forensic neuropsychiatry.

Significant advances in various disciplines of neurosciences, such as neurology, neuropsychiatry, neuroimaging, and neurogenetics, have caused an exciting field to emerge in the field of forensic neuropsychiatry called neurolaw. The resurgence of interest in this field has paralleled the renaissance of neuropsychiatry in the last few decades. This historical review of the practice of forensic neuropsychiatry provides an insight into the past with the hope that it will guide the future development of this field.

Telemedicine-Based Cognitive Examinations During COVID-19 and Beyond: Perspective of the Massachusetts General Hospital Behavioral Neurology & Neuropsychiatry Group.

Telehealth and telemedicine have encountered explosive growth since the beginning of the COVID-19 pandemic, resulting in increased access to care for patients located far from medical centers and clinics. Subspecialty clinicians in behavioral neurology & neuropsychiatry (BNNP) have implemented the use of telemedicine platforms to perform cognitive examinations that were previously office based. In this perspective article, BNNP clinicians at Massachusetts General Hospital (MGH) describe their experience performing cognitive examinations via telemedicine. The article reviews the goals, prerequisites, advantages, and potential limitations of performing a video- or telephone-based telemedicine cognitive examination. The article shares the approaches used by MGH BNNP clinicians to examine cognitive and behavioral areas, such as orientation, attention and executive functions, language, verbal learning and memory, visual learning and memory, visuospatial function, praxis, and abstract abilities, as well as to survey for neuropsychiatric symptoms and assess activities of daily living. Limitations of telemedicine-based cognitive examinations include limited access to and familiarity with telecommunication technologies on the patient side, limitations of the technology itself on the clinician side, and the limited psychometric validation of virtual assessments. Therefore, an in-person examination with a BNNP clinician or a formal in-person neuropsychological examination with a neuropsychologist may be recommended. Overall, this article emphasizes the use of standardized cognitive and behavioral assessment instruments that are either in the public domain or, if copyrighted, are nonproprietary and do not require a fee to be used by the practicing BNNP clinician.

Parálisis de sueño durante la siesta como síntoma inicial de narcolepsia / Sleep paralysis during naptime as initial symptom of narcolepsy

Introducción: La narcolepsia es una enfermedad de etiología desconocida, de prevalencia muy baja (el 0,02-0,16% en adultos, aunque debe ser mayor, dado el infradiagnóstico), caracterizada por la presencia de somnolencia diurna excesiva, alucinaciones hipnagógicas y/o hipnopómpicas, parálisis de sueño y/o cataplejía (si está presente, se habla de narcolepsia de tipo 1 y, si no, de narcolepsia de tipo 2), cuya media de retraso diagnóstico se sitúa entre los 10 y los 15 años. Caso clínico: Varón de 16 años que consulta tras visitar a distintos especialistas por presentar parálisis de sueño durante las siestas, que le producen miedo y ocasional caída de objetos de las manos (diagnosticadas como posibles mioclonías). En la anamnesis nos sorprendió la presencia de parálisis de sueño inmediatamente tras el inicio de las siestas y, en la anamnesis dirigida, esos movimientos bruscos provocados por emociones eran compatibles con cataplejías, por lo que realizamos un estudio polisomnográfico nocturno y un test de latencias múltiples del sueño. Con la evolución aparecieron alucinaciones hipnopómpicas y sueño fragmentado nocturno, así como ocasional somnolencia diurna (se completó así la tétrada sintomatológica típica de la narcolepsia con cataplejía de tipo 1). Conclusión: Es importante el conocimiento de esta enfermedad, plantearla como diagnóstico diferencial en pacientes con episodios de somnolencia incoercible, realizar la derivación a consultas especializadas en trastornos de sueño y una buena anamnesis dirigida, e indicar las pruebas complementarias necesarias para el diagnóstico de esta enfermedad infradiagnosticada para su correcto manejo, tan determinante para la mejora de la calidad de vida de estos pacientes.(AU)

Introduction: Narcolepsy is a disease of unknown etiology, with a very low prevalence (0.02-0.16% in adults, although it must be higher, given the underdiagnosis), characterized by the presence of excessive daytime sleepiness, hypnagogic and/or hypnopompic hallucinations, sleep paralysis and/or cataplexy (if present, we speak of type 1 narcolepsy and, if not, type 2 narcolepsy), whose average diagnostic delay is between 10 and 15 years. Case report: A 16-year-old male who consulted after visiting different specialists for presenting sleep paralysis during naps, which cause him fear and occasional objects falling from his hands (diagnosed as possible myoclonus). In the anamnesis we were surprised by the presence of sleep paralysis immediately after the start of the naps and, in the directed anamnesis, these sudden movements caused by emotions were compatible with cataplexies, so we performed a nocturnal polysomnographic study and a multiple sleep latency test. With evolution came hypnopompic hallucinations and fragmented nocturnal sleep, as well as occasional daytime sleepiness (thus completing the typical symptomatic tetrad of type 1 narcolepsy with cataplexy). Conclusion: Knowledge of this disease is important, considering it as a differential diagnosis in patients with episodes of intractable sleepiness, send these patients to expert doctors in sleep disorders and doing a good anamnesis, performing the necessary complementary tests for the diagnosis of this underdiagnosed disease for its correct management, which is decisive for improving the quality of life of these patients.(AU)

Teoría de la mente en niños con trastorno por déficit de atención/hiperactividad / Theory of mind in children with attention deficit hyperactivity disorder

Introducción: La teoría de la mente (TM) está involucrada en la cognición social, ya que evalúa nuestra capacidad para atribuir estados mentales a los demás con el fin de predecir y explicar el comportamiento. En la bibliografía, se ha observado que los niños con trastorno por déficit de atención/hiperactividad (TDAH) muestran algunas alteraciones en la TM en comparación con los niños sin problemas de neurodesarrollo. Nuestro objetivo en este estudio fue comparar la TM en dos grupos: niños en edad escolar con desarrollo normal y niños en edad escolar con TDAH. Sujetos y métodos: Se reclutó a 35 niños con edades comprendidas entre los 6 y los 12 años: 17 con TDAH y 18 sin problemas de neurodesarrollo. La TM se evaluó utilizando un método de evaluación validado para la población portuguesa: Tortuga en la Isla-Batería de Evaluación de Funciones Ejecutivas en Niños. Resultados: Obtuvimos dos grupos comparables en cuanto a datos sociodemográficos. No hubo diferencias significativas entre los dos grupos en cuanto a la TM. Conclusiones: La evaluación de la TM en niños portugueses no reveló alteraciones significativas en esta habilidad cognitiva en niños con TDAH.(AU)

Introduction: Theory of mind (TM) is involved in social cognition, as it evaluates our ability to impute our mental states to the others in order to predict and explain behaviour. In the literature, it has been noticed that children with attention deficit hyperactivity disorder (ADHD) show some impairments of TM when compared with children not neurodevelopmental impaired. Our goal in this study was to compare the TM in two groups: schooler children with normal development and schooler children with ADHD. Subjects and methods: A total of 35 children, aged between 6 and 12 years, were recruited: 17 with ADHD and 18 not neurodevelopmental impaired. TM was evaluated using an assessment method validated for the Portuguese population: Turtle on the Island-Battery of Assessment of Executive Functions in Children. Results: We obtained two comparable groups concerning sociodemographic data. There were no significant differences between the two groups regarding TM. Conclusion: The TM assessment in Portuguese children did not reveal significant impairment regarding this cognitive skill in children with ADHD.(AU)