Teoría de la mente en trastornos del neurodesarrollo: más allá del trastorno del espectro autista / Theory of mind in neurodevelopmental disorders: Beyond autistic spectrum disorder

Introducción La teoría de la mente (ToM) es la capacidad humana de percibir, interpretar y atribuir los estados mentales de las otras personas y la alteración de esta función cognitiva es un síntoma nuclear del trastorno del espectro autista (TEA). Hay otros trastornos del neurodesarrollo como el trastorno obsesivo-compulsivo de inicio en la infancia (TOC) y el síndrome de Tourette (ST), que pueden presentarse con disfunciones cognitivas, y en los que la ToM ha sido menos estudiada, especialmente en población juvenil. El objetivo de este estudio fue comparar la ToM avanzada entre grupos de jóvenes con diagnóstico de TOC, ST o TEA y un grupo de controles sanos. Métodos Se entrevistaron clínicamente a varones de entre 11 y 17 años con diagnóstico principal de TOC (n = 19), ST (n = 14), TEA (n = 18), y un grupo control de sujetos sanos (n = 20). Se les administró instrumentos de estimación de cociente intelectual, severidad de los síntomas psiquiátricos y las pruebas para evaluar la ToM: la tarea Historias de la vida cotidiana y el Test de la mirada. Resultados Los jóvenes con ST presentan dificultades similares para resolver tareas de ToM avanzada al nivel de los pacientes con TEA, a diferencia de los pacientes con TOC de inicio en la infancia que presentan resultados similares a los controles sanos. Conclusiones La ToM está alterada en otros trastornos del neurodesarrollo más allá del TEA, como en el ST. (AU)

Introduction Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. Methods Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the “Stories from everyday life” task and the “Reading the mind in the eyes” test). Results Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. Conclusions ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS. (AU)

Theory of mind in neurodevelopmental disorders: beyond autistic spectrum disorder.

INTRODUCTION: Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. METHODS: Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the "Stories from everyday life" task and the "Reading the mind in the eyes" test). RESULTS: Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. CONCLUSIONS: ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.

Psychometric properties of the Spanish version of the Frontal Assessment Battery (FAB-E) and normative values in a representative adult population sample.

BACKGROUND: The Frontal Assessment Battery is a short bedside test used to assess executive functions (EF). The aims of the present study were, first, to evaluate the psychometric proprieties of the Spanish version of the FAB (FAB-E) in a representative sample, and second, to establish cut-off points for impairment in executive function according to age and education level. METHODS: A sample of 798 healthy Spanish adult subjects aged 19 to 91 participated in this study. Neuropsychological assessment of participants was conducted using the FAB-E, Mini-Mental State Examination (MMSE) and Trail Making Test (TMT). We examined internal consistency, intraclass correlation, test-retest reliability, and concurrent and divergent validity. In addition, we established a cut-off point for detecting executive function impairment based on the 5th percentile by age group and education level. RESULTS: The analysis of the psychometric properties of the FAB-E showed good internal consistency (Cronbach's α = 0.60), intraclass correlation (0.72), test-retest reliability (0.70) and concurrent and divergent validity between the TMT (r = -0.523), MMSE (r = 0.426) and the FAB-E. The cut-off points for each age group were 16 points for the ≤ 29 group, 15 points for the 30-39 group, 14 points for the 40-49 and 50-59 groups, 12 points for the 60-69 group, and 10 points for the ≥ 70 age group. CONCLUSIONS: The psychometric analysis showed that the FAB-E has good validity and reliability. Thus, FAB-E may be a helpful tool to evaluate EF in a healthy Spanish population. In addition, this study provides information on reference data that will be very valuable for clinicians and researchers.

Theory of mind in neurodevelopmental disorders: Beyond autistic spectrum disorder. / Teoría de la mente en trastornos del neurodesarrollo: más allá del trastorno del espectro autista.

INTRODUCTION: Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. METHODS: Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n=19), TS (n=14), or ASD (n=18), and a control group (n=20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the "Stories from everyday life" task and the "Reading the mind in the eyes" test). RESULTS: Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. CONCLUSIONS: ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.

Prevalence of clinical manifestations and orthopedic alterations in patients with lipedema: A prospective cohort study.

Lipedema is a chronic disease seen frequently in women that causes abnormal fat deposition in the lower limbs and associated bruising and pain. Despite increasing knowledge concerning lipedema, there are still aspects of diagnosis that need further investigation. We performed a prospective, observational cohort study to describe prevalence of clinical characteristics present in patients with lipedema in an attempt to establish diagnostic criteria. Participants were consecutive patients with lipedema presenting at a public hospital in Spain from September 2012 to December 2019. Patients were examined for the following signs and symptoms of lipedema: symmetrical involvement; disproportion between the upper and lower part of the body; sparing of the feet; pain; bruising; Stemmer' sign; pitting test; fibrosis; venous insufficiency; upper limbs involvement; vascular spiders; skin coldness; and lymphangitis attacks. In addition, orthopedic alterations were examined in all patients. We recruited 138 patients (median age=47.6 years; mean BMI=29.9 Kg/m2). Using waist-to-height-ratio, 41.3% of the patients were slim or healthy. The most frequent type of lipedema was Type III (71%), and most were in stage 1 and 2. The features of lipedema with a prevalence >80% were symmetrical involvement, unaffected feet, pain, bruising, vascular spiders, and disproportion. Pain was nociceptive in 60.2% and neuropathic in 33.1%, and there was a reduced social or working activities in 37.9%. Orthopedic alterations including cavusfeet or valgus-knees were observed in 1/3 of the patients. X-ray of the knees was performed in 63 patients and knee osteoarthritis diagnosed in 37. We found that the most frequent manifestations of lipedema were bilateral involvement, unaffected feet, pain, easy bruising, vascular spiders, and disproportion between the upper and lower parts of the body. These should be considered as major criteria for diagnosis. In addition, our findings on the prevalence of orthopedic alterations in patients with lipedema highlights the need for a multidisciplinary and integrated approach.

Neurología y síndrome de Down. Desarrollo y atención temprana / Neurology and Down syndrome. Development and early intervention

Aunque los avances diagnósticos y terapéuticos han contribuido a mejorar las afecciones orgánicas de los pacientes con síndrome de Down (cardiopatías, malformaciones digestivas, hipotiroidismo, etc.), el retraso psicomotor continúa siendo el factor más discapacitante para una persona con trisomía. En ausencia de tratamiento curativo, la atención temprana a las distintas áreas del desarrollo es el arma más eficaz para procurar la integración de estos pacientes. Por ello, desde la época neonatal o de la lactancia precoz, los niños deben ser dirigidos a Unidades multidisciplinares en las que se aborden los distintos aspectos del desarrollo infantil (AU)

Although the diagnostic and therapeutic advances have contributed to improving the organic conditions of patients with Down's Syndrome (heart diseases, digestive malformations, hypothyroidism, etc.), psychomotor retardation continues o be the most incapacitating factor for a person with trisomy. In absence of curative treatment, early attention to the different development areas is the most effective tool to seek the integration f these patients. Thus, from the neonatal or early lactation period, the children should been referred to multidisciplinary units where the different aspects of child development are approached (AU)

Ejercicio físico y calidad de vida autopercibida en el anciano hipertenso / Physical exercise and quality of self-perceived life in the hypertensive elderly subject

Objetivo. Determinar la relación entre el ejercicio físico y la calidad de vida (CdV) autopercibida en pacientes hipertensos mayores de 70 años.DiseñoEstudio transversal y analítico de una muestra de pacientes ambulatorios que acudieron a las consultas de atención primaria de los investigadores.Material y métodoSe incluyeron pacientes de 70 años de edad o mayores, diagnosticados de hipertensión arterial (HTA). Se excluyeron los pacientes institucionalizados o los que no cumplían los criterios del estudio. A todos los participantes se les efectuó analítica, valoración de la comorbilidad y exploración física básica que incluyó la medida de la presión arterial estandarizada. La actividad física se cuantificó en metabolic equivalents (METS) semanales mediante un cuestionario validado. La CdV se midió mediante el cuestionario de autopercepción de la salud de 12 ítems (SF-12).ResultadosSe incluyeron 191 pacientes (edad 77,8 años; el 58,1% mujeres). Media de 1.837 METS semanales (DE: 1.906,5). La CdV según el cuestionario SF-12, 43,2 para la dimensión fisica y 52,4 para la psíquica. La puntuación de la CdV fue inferior en los pacientes situados en los cuartiles inferiores de ejercicio físico (p<0,02). El ejercicio físico a partir de 1.635 METS por semana y la comorbilidad se asociaron de forma independiente con el componente físico de la CdV, mientras que el ejercicio físico a partir de 840 METS semanales, el sexo, la comorbilidad, el HDL colesterol y la diabetes tipo 2 lo hicieron con el componente psíquico de la CdV.ConclusionesExiste una asociación independiente entre la práctica de ejercicio físico y la CdV autopercibida en los pacientes hipertensos mayores de 70 años. El nivel de ejercicio que recomienda la Guía Europea de HTA se asocia a una mejor percepción del componente psíquico de la CdV, mientras que para el componente físico es necesario un nivel más elevado de ejercicio(AU)

Objective. Determine the relationship between physical exercise and self-perceived quality of life in hypertensive patients over 70 years of age.DesignCross-sectional and analytic study of a sample of out-patients who came to the investigators’ primary care medical offices.Material and methodPatients of 70 years or older diagnosed of arterial hypertension were included. Those institutionalized or who did not meet the study criteria were excluded. All the participants underwent laboratory analysis, evaluation of comorbidity, basic physical examination that included measurement of standardized blood pressure. Physical activity was quantified in metabolic equivalents (METS) per week using a validated questionnaire. Quality of life was measured with the SF-12 questionnaire.ResultsA total of 191 patients (age 77.8 y; 58.1% women) were included. Mean of 1837 METS per week (SD:1906.5) .Quality of life SF-12, 43.2 for the physical dimension and 52.4 for the psychic one. Quality of life score was lower in the patients located in the lower quartiles of physical exercise (p<0.02). Physical exercise after 1635 METS per week and comorbidity were associated independently with the physical component of quality of life while physical exercise after 840 METS per week, gender, comorbidity, HDL cholesterol and type 2 diabetes did so with the psychic component of quality of life.ConclusionsThere is an independent association between the practice of physical exercise and self-perceived quality of life in hypertensive patients over 70 years. The exercise level recommended by the European Guide of AHT is associated with a better perception of the psychic component of quality of life while a higher exercise level is necessary for the physical one(AU)

[ARX mutations and mental retardation of unknown etiology: three new cases in Spain]. / Mutaciones en el gen ARX y retraso mental no filiado: tres nuevos casos en España.

INTRODUCTION: Mental retardation has an approximated prevalence of 2% in the general population and its most frequent cause is X-fragile syndrome. This genetic disorder predominantly affects males and it is mainly caused by the expansion of CGG in FMR1 gene. Recently has been demonstrated that mutations in a new called ARX gene (aristaless-related homeobox) can also cause a similar form of X linked mental retardation, as well as other neurological disorders (autism, Partington or West syndrome). The most frequent mutation that has been reported is the c.428_451 dup24, which comprises almost 60% of all described. It causes an expansion of a polyalanine tract of ARX protein. CASE REPORTS: We report three cases of mental retardation in two different families where the mutation in ARX gene c.428_451 dup24 was found while X-fragile syndrome screening was made. Personal and familiar history, phenotype and evolution are described. CONCLUSION: The molecular analysis of this mutation should be considered as a routine for the genetic diagnosis of mental retardation in males of nondrafted cause.

Mutaciones en el gen ARX y retraso mental no filiado: tres nuevos casos en España / Arx mutations and mental retardation of unknow etiology: Three new cases in Spain

Introducción. El retraso mental tiene una prevalencia aproximada del 2% en la población general, y la causa hereditaria más frecuente es el síndrome X frágil. Esta entidad afecta predominantemente a varones y está fundamentalmente causada por la expansión del triplete CGG en el gen FMR1. Recientemente, se ha demostrado que mutaciones en un nuevo gen llamado ARX (aristaless related homeobox) pueden ocasionar también una forma similar de retraso mental ligado al X, entreun amplio espectro de trastornos neurológicos relacionados (autismo, síndrome de Partington o síndrome de West, entre otros). La mutación más frecuentemente descrita, aproximadamente un 60% del total, es la duplicación de 24 pares de bases en el exón 2 (c.428_451 dup24), que produce una expansión de un tramo de polialanina en la proteína ARX. Casos clínicos.Se comunican tres casos de retraso mental no filiado, pertenecientes a dos familias distintas, en los que se halló la mutación en el gen ARX c.428_451 dup24 al realizar un estudio genético adicional al cribado de síndrome X frágil. Se describen los antecedentes personales y familiares, características fenotípicas y evolución de cada uno de ellos. Conclusión. El análisis molecular de dicha mutación debería considerarse de rutina para el diagnóstico genético de retraso mental en varones de causa no filiada

Introduction. Mental retardation has an approximated prevalence of 2% in the general population and its mostfrequent cause is X-fragile syndrome. This genetic disorder predominantly affects males and it is mainly caused by the expansion of CGG in FMR1 gene. Recently has been demonstrated that mutations in a new called ARX gene (aristalessrelated homeobox) can also cause a similar form of X linked mental retardation, as well as other neurological disorders (autism, Partington or West syndrome). The most frequent mutation that has been reported is the c.428_451 dup24, which comprises almost 60% of all described. It causes an expansion of a polyalanine tract of ARX protein. Case reports. We reportthree cases of mental retardation in two different families where the mutation in ARX gene c.428_451 dup24 was found while X-fragile syndrome screening was made. Personal and familiar history, phenotype and evolution are described. Conclusion. The molecular analysis of this mutation should be considered as a routine for the genetic diagnosis of mental retardation inmales of nondrafted cause

Early hyponatraemia after pituitary surgery: cerebral salt-wasting syndrome.

Hyponatraemia is a common complication in patients undergoing neurosurgery. It can be caused either by the syndrome of inappropriate secretion of antidiuretic hormone or by the cerebral salt-wasting syndrome (CSWS). CSWS frequently occurs in patients suffering from subarachnoid haemorrhage and brain injury, but it is rare after pituitary tumour surgery. However, this diagnostic possibility should be considered as these disorders require specific treatment and have different prognoses. In this article, we present a case of acute and early hyponatraemia caused by CSWS after pituitary tumour surgery. We also revise the aetiology, mechanisms, differential diagnosis and treatment of hyponatraemia after pituitary surgery.

[Effects of valproate on sexual development]. / Efectos del ácido valproico sobre el desarrollo sexual.

INTRODUCTION: Valproate use in young girls has been associated with the adverse endocrinological effects of weight gain and hyperandrogenism. Furthermore, polycystic ovaries and hyperinsulinism have been described in adult women. In men and young boys, however, the possible adverse endocrinological effects of valproate have scarcely been analyzed. OBJECTIVES: The aim of this study was to evaluate the effects of valproate treatment on pubertal development, especially the possible hyperandrogenic effects, in girls and boys with epilepsy. MATERIAL AND METHODS: Twenty-three girls and 15 boys (aged 8-16 years old) who were undergoing valproate treatment for epilepsy were compared with 15 control girls and 10 control boys of the same age range. Anthropometric indexes, sexual maturation, and hirsutism scores were evaluated. Serum concentrations of follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, androstenedione, dehydroepiandrosterone, estradiol, and insulin were measured. Ultrasound examination of ovaries and estimation of bone age through X-ray of the left hand were also performed. RESULTS: Valproate did not affect pubertal development in the study group. No hirsutism or polycystic ovaries were found. Increases in weight, relative weight, and body mass index were observed in the group undergoing valproate treatment, but no statistically significant differences compared with the control group were found. Plasma testosterone was higher in valproate-treated girls (0.71 0.51 ng/ml) than in control girls (0.35 0.15) (p 0.001). This finding was independent of valproate dose and treatment duration. Hyperandrogenism was not found in valproate-treated boys. CONCLUSIONS: Valproate may induce hyperandrogenism in epileptic girls but not in boys. This is an early adverse effect and is independent of the dose used. No changes in normal pubertal development or physical repercussions were found in epileptic patients.

Efectos del ácido valproico sobre el desarrollo sexual / Effects ofvalproate on sexual development

Introducción La utilización del ácido valproico se ha relacionado en niñas y adolescentes con efectos adversos endocrinológicos: ganancia de peso e hiperandrogenismo. Además, en mujeres adultas se han descrito ovarios poliquísticos e hiperinsulinismo. En varones apenas se han estudiado los posibles efectos adversos endocrinológicos. Objetivos: El objetivo de este estudio fue evaluar los efectos del ácido valproico en el desarrollo puberal en chicas y en chicos epilépticos, en especial relación con su posible efecto hiperandrogénico. Material y métodos: Se incluyeron 23 chicas y 15 chicos (entre 8 y 16 años) epilépticos, tratados con ácido valproico, se compararon con 15 niñas control y 10 niños control del mismo rango de edad. Se valoraron índices antropométricos y las escalas de desarrollo sexual e hiperandrogenismo. Se midieron las concentraciones séricas de hormona foliculostimulante (FSH) y luteinizante (LH), testosterona, androstendiona, deshidroepiandrosterona, estradiol e insulina. Se valoraron los ovarios mediante ecografía y la edad ósea mediante radiografía de la mano izquierda. Resultados: El ácido valproico no afectó el desarrollo puberal en el grupo estudio. No se apreció hirsutismo ni ovarios poliquísticos. Se observó un aumento de peso, peso relativo e índice de masa corporal, pero sin que existieran diferencias estadísticamente significativas respecto al grupo control. La testosterona plasmática en las niñas tratadas (0,71 0,51 ng/ml) fue mayor que en el grupo control (0,35 0,15) (p 0,001) y este hallazgo fue independiente del tiempo de tratamiento o de la dosis empleada. En los chicos tratados no se encontró hiperandrogenismo. Conclusiones: El ácido valproico induce hiperandrogenismo analítico en niñas epilépticas, pero no en niños. Este es un efecto adverso precoz e independiente de la dosis. No hay cambios en el desarrollo puberal normal ni repercusión clínica en los/as pacientes epilépticos/as (AU)

Preparation and structural study of the enantiomers of alpha,alpha'-bis(trifluoromethyl)-9,10-anthracenedimethanol and its perdeuterated isotopomer, highly effective chiral solvating agents.

Enantiopure forms of alpha,alpha'-bis(trifluoromethyl)-9,10-anthracenedimethanol and the corresponding perdeuterated isotopomers were prepared. The conformational study was carried out by (1)H NMR, and the absolute configuration was determined by the X-ray study of the crystallized diastereoisomeric carbamate derivative. This compound was tested as a chiral solvating agent (CSA). The results showed very good discrimination for several racemic mixtures that improved other classical methods. The study of diastereomeric complexes was carried out by determination of the stoichiometry of the complex and the binding constant of the equilibrium.

[Chromosome anomalies found in a cytogenetic study of 750 healthy newborn infants]. / Anomalías cromosómicas encontradas en un estudio citogenético realizado en 750 niños recién nacidos sanos.

Cytogenetic studies on newborn infants show a high incidence in chromosomal abnormalities (0.5-1% of the population). Chromosomal study is carried out on 750 children from the University Hospital of Valencia over a two-year period, chosen at random and without any clinical pathology. Five gonosomopathies and three autosomopathies were found. In the former, three 47,XXY, one triple-X, and one isochromosome of long arms of chromosome X, were detected. In autosomal chromosomopathies, a Robertsonian translocation was seen between chromosomes 13 and 14, a reciprocal translocation between chromosomes 8 and 10, and an inversion of chromosome 3. Altogether eight cytogenetic anomalies appeared, a percentage slightly over one percent. Importance of early diagnosis of chromosomal abnormalities is discussed, with the aim of establishing adequate treatment when possible, and genetic counselling for the family.