Pobreza, traumas tempranos, déficit atencional y deserción educacional: un círculo de daño. Lecciones aprendidas en el Programa Soymás, La Pintana / Poverty, early trauma, attention deficit and educational dropout: a circle of harm. Lessons learned in the Soymás Program, La Pintana

El antecedente de maltrato infantil y el Trastorno por Déficit de Atención e Hiperactividad (TDAH), son condiciones que tienen una alta prevalencia en los jóvenes de sectores vulnerables. Analizamos su relación con deserción escolar, que también es mayor en tales contextos. La deserción es un fenómeno multifactorial, influenciado por factores propios del estudiante, de la institución, del contexto familiar y del entorno social. Presentamos hallazgos en la Fundación Soymás, institución de formación para madres adolescentes, localizada en La Pintana, una de las comunas con mayor pobreza en Chile, donde la deserción en 2022 fue 45%. De acuerdo a la encuesta ACES de 10 eventos traumáticos en la niñez, 50% de las estudiantes sufrió 3 o más, y 21% 7 o más. Al menos un 40% de la población cumplía criterios de TDAH y un 30% adicional manifestaba síntomas sugerentes (versus 4,5% de TDAH reportado en adolescentes del país). Constatamos una asociación directa entre las tres variables: Maltrato, TDAH y Deserción. Estos hallazgos deberían ser considerados en políticas públicas, reforzando la necesidad de colaboración entre Salud y Educación.

A history of child abuse and Attention Deficit Hyperactivity Disorder (ADHD) are conditions that have a high prevalence in young people from vulnerable sectors. We analyze its relationship with school dropout, which is also higher in such contexts. Dropout is a multifactorial phenomenon, influenced by factors specific to the student, the institution, the family context, and the social environment. We present findings at the Soymás Foundation, a training institution for adolescent mothers, located in La Pintana, one of the counties with the highest poverty in Chile, where dropout in 2022 was 45%. According to the ACES survey of 10 traumatic events in childhood, 50% of the students suffered 3 or more, and 21% 7 or more. At least 40% of the population met the criteria for ADHD and an additional 30% manifested suggestive symptoms (versus 4.5% of ADHD reported in adolescents in the country). We found a direct association between the three variables: Abuse, ADHD and Desertion. These findings should be considered in public policies, reinforcing the need for collaboration between Health and Education.

Variabilidad fenotípica del déficit de GLUT1: ¿Cuándo es necesario sospechar? / Phenotypic variability of GLUT1 deficiency: when is necessary to suspect?

Resumen: Introducción: La deficiencia del transportador de glucosa tipo 1 constituye un síndrome (SD-GLUT1), provocado por la mutación del gen SLC2A1, que codifica la proteína transportadora de glucosa al encéfalo. Las manifestaciones neurológicas se dan en tres dominios principales: crisis epilépticas, movimientos anormales y alteraciones cognitivas. El diagnóstico se presume ante el hallazgo de hipoglucorraquia y se confirma mediante el análisis molecular del gen. La importancia de precisarlo radica en que tiene tratamiento específico, la dieta cetogénica. Objetivo: Analizar dos casos clínicos de SD-GLUT1 de presentación atípica, destacando la variabilidad del fenotipo. Caso Clínico: Presentamos el caso de dos hermanos cuyas manifestaciones fueron crisis epilépticas de tipo ausencias típicas, y un trastorno paroxístico del movimiento. Los pacientes fueron estudiados encontrándose hipoglucorraquia en ambos y se confirmó diagnóstico de SD-GLUT1 con estudio molecular. El tratamiento específico con dieta cetogénica logró buena respuesta. Conclusiones: Exponemos sus características clínicas peculiares que nos permitieron sospechar este cuadro, de espectro fenotípico amplio, cuyo diagnós tico y tratamiento, correcto y oportuno, puede mejorar significativamente la calidad de vida de los afectados.

Abstract: Introduction: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet. Objective: To analyze two SD-GLUT1 pediatric patients with unusual phenotype. Clinical Case: We present the case of two siblings who presented absence seizures and a paroxysmal movement disorder. Both patients were studied, finding low CSF glucose. The diagnosis of GLUT1-DS was confirmed with molecular analysis. Specific treatment with ketogenic diet achieved good response in both cases. Con clusions: We present their peculiar clinical characteristics that allowed us to suspect this wide phe notypic spectrum. Correct and timely diagnosis and treatment can significantly improve the quality of life of those affected.

Diagnósticos diferenciales de trastorno del espectro autista y aporte de ADOS y ADIR-R como herramientas complementarias / Differentials diagnosis of autism spectrum disorders and contribution of ADOS and ADD-R as complementary tools

INTRODUCCIÓN: El diagnóstico de los Trastornos del Espectro Autista (TEA) es clínico y complejo por la dificultad de interpretar los síntomas, las frecuentes comorbilidades, la heterogeneidad clínica y la ausencia de indicadores específicos. Múltiples instrumentos se han desarrollado para su evaluación, destacando la Escala de Observación para el Diagnóstico del Autismo (ADOS) y la Entrevista para Diagnóstico de Autismo, versión revisada (ADI-R); la sensibilidad y especificidad de estos tests es alta, más aún si se utilizan en conjunto. OBJETIVO: Evaluar la utilidad de ADI-R y ADOS como herramientas complementarias para el diagnóstico de TEA, en particular cuando resultan discrepantes del diagnóstico clínico. METODOLOGÍA: Estudio retrospectivo, de revisión de registro clínico de 44 pacientes (36 varones), de edad promedio 6,7 años, por sospecha de TEA entre 6/2015-05/2017. Se aplicó ADI-R+ADOS-2, siendo ciega respecto a la hipótesis clínica inicial. El diagnóstico definitivo se plantea tras el seguimiento de largo plazo (6-58 meses). RESULTADOS: En 37 de 44 pacientes, el diagnóstico clínico inicial fue TEA; en los 7 restantes otros diagnósticos de trastornos del neurodesarrollo y psiquiátricos. ADI-R+ADOS-2 fueron concordantes con el diagnóstico clínico en 39(89%), en 7 descartando y en 32 confirmando el diagnóstico de TEA, añadiendo en estos últimos el grado de severidad. En 5 casos hubo discordancia entre el diagnóstico clínico inicial y los tests; en los 5 casos el especialista planteó TEA y los tests lo refutaron, comprobándose tras la evolución en largo plazo lo planteado por los test en 4 casos y por el clínico en 1 caso. Los más frecuentes diagnósticos diferenciales fueron Trastorno de Comunicación Social, Trastorno por déficit de atención e hiperactividad comórbido con Trastorno del desarrollo de lenguaje y Trastornos ansiosos. CONCLUSIONES: El diagnóstico de TEA debe ser clínico, hecho por un médico especialista que considere una multiplicidad de variables. ADI-R+ADOS2 resultaron herramientas complementarias útiles, particularmente en los casos en que descartaron TEA, instando al equipo tratante a la búsqueda de diagnósticos diferenciales.

INTRODUCTION: The diagnosis of the autism spectrum disorders (ASD) is clinically and complex because of the difficulty of interpreting symptoms, frequent comorbidities, the clinical heterogeneity and the lack of specific indicators. Many instruments have been developed for evaluation, of which we highlight the scale of observation for the diagnosis of autism (ADOS) and the interview for diagnosis of autism, revised (ADI-R); the sensitivity and specificity of these tests is high, even more when they are used together. OBJECTIVE: To evaluate the usefulness of ADI-R and ADOS as complementary tools for the diagnosis of ASD, particularly when they are discrepant from the clinical diagnosis. METHODS: This is a retrospective study, a review of the clinical records of 44 patients (36 male), average age 6.7 years, with a suspicion of ASD between June 2015- May 2017. ADIR+ADOS-2 were applied blindly to the initial clinical hypothesis. The definitive diagnosis is certified after a long-term follow-up (6-58 months). RESULTS: In 37 of 44 patients the initial clinical diagnosis was ASD; in the remaining 7 other psychiatric and neurodevelopmental disorders were diagnosed. ADI-R+ADOS-2 were concordant with the clinical diagnosis in 39 (89%), excluding 7 and in 32 confirming the diagnosis of ASD, adding the degree of severity in the latter. In 5 cases there was discrepancy between the initial clinical diagnosis and tests; in these 5 cases the specialist suspected ASD and the tests disproved it; after the long-term follow-up the test's diagnosis was confirmed in 4 of the 5 cases, and in the remaining case the clinical diagnosis was confirmed. The most frequent differential diagnoses were social communication disorder, attention deficit hyperactivity disorder comorbid with language development disorder, and anxious disorders. CONCLUSIONS: The diagnosis of ASD should be clinical and made by a medical specialist who considers a multiplicity of variables. ADI-R+ADOS2 were complementary tools, particularly in cases in which ASD was rejected, urging the treating team to search for differential diagnosis.

Déficit atencional con hiperactividad: trastorno multicausal de la conducta, con heredabilidad y comorbilidad genética moderadas / Heritability and genetic comorbidity of attention deficit disorder with hyperactivity

This review aims to summarize information about the genetic etiology of attention deficit disorder with hyperactivity (ADHD), with particular reference to the contributions of our research group. We also discuss the genetic comorbidity estimated from genome-wide single nucleotide polymorphisms (SNP´s) between ADHD and major psychiatric disorders such as schizophrenia (E), major depressive disorder (MDD), bipolar disorder (BD) and autism spectrum disorders (ASD). A high genetic comorbidity was found between E and BD (46%), a moderate comorbidity between MDD and E, MDD and BD and MDD and ADHD (18%, 22% and 10% respectively) and a low comorbidity between E and ASD (2.5%). Furthermore, we show evidence concerning the genetic determination of psychiatric diseases, which is significantly lower when it is estimated from genome-wide SNP´s rather than using traditional quantitative genetic methodology (ADHD = E = 23%, BD = 25%, MDD = 21% and ASD = 17%). From an evolutionary perspective, we suggest that behavioral traits such as hyperactivity, inattention and impulsivity, which play a role in ADHD and perhaps also other hereditary traits which are part of major psychiatric disorders, could have had a high adaptive value during the early stages of the evolution of Homo sapiens. However, they became progressively less adaptive and definitively disadvantageous, to the extreme that they are involved in frequently diagnosed major psychiatric disorders.

Trastorno por déficit de atención e hiperactividad en niños aymara: primera aproximación clínica / Attention deficit hyperactivity disorder in Aymara children

Background: The assessment of Attentional Deficit Hyperactivity Disorder (ADHD) among ethnic groups may reveal environmental or cultural variables that influence the appearance of this disorder. Aim: To assess the presence and characteristics of ADHD in two communities of the inland Arica valleys (Azapa and Lluta), where the Aymara population predominates. Material and Methods: Startingfrom a screening based on the Conner's test, we evaluated 79 children aged 8 to 13 years. Sixty children were of Aymara origin and 19 children were of non-Aymara origin. Twenty Aymara and 9 non-Aymara children had ADHD. They were compared with a group of patients from Santiago, Chile (110 children) that were previously assessed. Results: Patientsfrom Azapa/Lluta displayed similar characteristics to those from Santiago. However the former had significantly less psychiatric comorbidities than the latter. On the other hand, the non-Aymara subgroup of Azapa/ Lluta displayed an increased rate of comorbidities and was exclusively of the combined subtype, although their sample size is too small to draw strong conclusions. Conclusions: Although we cannot dismiss biological variables, the importance of family values and the respect to authorities may be protective factors for ADHD, associated to Aymara culture. Our findings suggest that the clinical characteristics of ADHD are not uniform among ethnic groups and cultures. The relative contribution of environmental and genetic factors in this variability remain to be determined.

Riesgo de déficit atencional/hiperactividad en escolares Aymara, Rapa-Nui y de Santiago de Chile: Posible contribución de polimorfismos genéticos del sistema dopaminérgico / Risk of attention deficit/hyperactivity disorder in Aymara and Rapa-Nui school children: Association with dopaminergic system polymorphisms

Background: Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness or inattentiveness. Aim: To search for differences in risk for ADHD and its components among Chilean native and mixed populations and to look forpossible associations with dopamine receptor D4 (DRD4) and dopamine transporter 1 (DAT1) polymorphisms. Material and Methods: School teachers were requested to complete the Conners test, which uses DSM-IV criteria, to screen for ADHD risk among Aymara and Rapa-Nui students. Results: Rapa-Nui children from Easter Island had the highest risk of hyperactivity/impulsiveness. Aymara children from the Arica-Parinacota Region had lower scores. Although inattentiveness scores had lower differences between groups, overall ADHD score differences among studied populations were highly significant. DRD4 and DAT1 alleles had a heterogeneous distribution. Easter islanders had more divergent frequencies, mostprobably as a result of separate migration routes utilized at different timeperiods during the colonization of America and Polynesia. Conclusions: The comparison of ADHD risk parameters between Rapa-Nui and Aymara children showed marked differences. Allele distri-bution of dopamine polymorphisms in Easter Island was also significantly different from northern Chile, due probably to different colonization histories. These findings suggest that higher ADHD risk scores in Easter Island children may be linked to the presence of different DRD4 alleles.

Plasticity in primary somatosensory cortex resulting from environmentally enriched stimulation and sensory discrimination training

We studied primary-somatosensory cortical plasticity due to selective stimulation of the sensory periphery by two procedures of active exploration in adult rats. Subjects, left with only three adjacent whiskers, were trained in a roughness discrimination task or maintained in a tactile enriched environment. Either training or enrichment produced 3-fold increases in the barrel cortex areas of behaviorally-engaged whisker representations, in their zones of overlap. While the overall areas of representation expanded dramatically, the domains of exclusive principal whisker responses were virtually identical in enriched vs normal rats and were significantly smaller than either group in roughness discrimination-trained rats. When animals were trained or exposed to enriched environments with the three whiskers arrayed in an are or row, very equivalent overlaps in representations were recorded across their greatly-enlarged whisker representation zones. This equivalence in distortion in these behavioral preparations is in contradistinction to the normal rat, where overlap is strongly biased only along rows, probably reflecting the establishment of different relations with the neighboring cortical columns. Overall, plasticity phenomena are argued to be consistent with the predictions of competitive Hebbian network plasticity.

Non-homogeneous spatial configuration of vibrissae cortical representation in layer IV of the barrel somatosensory cortex

In the present experiments we studied exclusive and overlapping cortical representational areas of the vibrissae in layer IV cells, across the entire barrel subfield of the rat somatosensory cortex, looking for evidences that would challenge the present assumptions of homogeneity and symmetry among cortical columns in this sensorial system. Our main findings were that in layer IV of the rat barrel cortex: A) Size of vibrissae cortical representational areas (X=0.4174mm²; SD=0.025) was not homo geneous, vibrissae in dorsal rows (A-B) had significantly smaller areas than those in ventral rows (D-E), a pattern that repeated itself in arcs 1-4. B) This difference arises from vibrissal representational overlap, and not from variations in exclusive zones, which are surprisingly homogeneous in size across the barrel cortex (X=0.079mm²; SD=0.0075); C) The extent of overlapping cortical areas varied systematically, with intra-row overlapping areas having a predominant bias (71.4 percent of total overlapping) independent of area sizes. Accordingly, vibrissae shared receptive fields with an average of 1.15 vibrissae in the same row and 0.38 in the same are. Barrel cortex has been viewed operationally as a conglomerate of essentially homogenous cortical columns that interact equivalently in the are and row dimensions. Our simple but global cortical reconstructions show that this predominant view should be revised. We postulate that the vibrissae/barrels spatial disposition in rows and ares has a relevant functional meaning, related to different sensory capabilities.

Síndrome de déficit atencional e hiperactividad (SDAH): ¿exclusividad de los niños ? / Attention-deficit hyperactivity disorder syndrome (ADHD)

El síndrome de déficit atencional es uno de los problemas frecuentes en neuropsiquiatría. Es interesante para los pediatras conocer la evolución de los pacientes a futuro, es decir, cómo se desarrollan y desempeñan en la vida adulta los niños que han padecido este problema. En este artículo se realiza una revisión del déficit atencional del adulto.

Effect of Psychostimulants on Distinct Attentional Parameters in Attentional Deficit/Hyperactivity Disorder

Although there is extensive literature about the effects of stimulants on sustained attention tasks in attentional deficit/hyperactivity disorder (ADHD), little is known about the effect of these drugs on other attentional tasks involving different neural systems. In this study we measured the effect of stimulants on ADHD children, both in the electroencephalographic (EEG) activity during sustained attentional tasks and in psychometric performance during selective attentional tasks. These tasks are known to rely on different cortical networks. Our results in children medicated with 10 mg of d-amphetamine administered 60 min before the study indicate (i) a significant increase in amplitude but not latency of the P300 component of the event-related potential (ERP) during the sustained attentional task and (ii) a significant improvement in the reaction times and correct responses in the selective attentional task. In addition to supporting the use of stimulants in children with attentional deficit/hyperactivity disorder, these results show a multifocal activity improvement of cortical structures linked to dopamine, and interestingly, to attention. All these analyses are framed in a wider study of diverse attentional functions in this syndrome.

Psicoeducación en familiares de pacientes esquizofrénicos en tratamiento con clozapina / Psycoeducation in the family of schizophrenic patients treated with clozapine

Se presenta una experiencia en psicoeducación de familiares de pacientes esquizofrénicos en tratamiento con Clozapina. Se describe el programa y actividades del taller realizados; además, se revisan y discuten los resultados obtenidos en la evaluación del taller. Concluimos que este tipo de experiencia es útil, tanto para los familiares como para el equipo terapéutico, lo que tendería a optimizar el tratamiento con Clozapina

Estudio comparativo de ceguera en consultantes (1983) y hospitalizados (1985) / Comparative study of blindness in ambulatory (1983) and hospitalized (1985) patients

Se estudia una casuística de 246 ciegos (categorías 3, 4 y 5 de la clasificación OMS), de ellos 124 fueron consultantes ambulatorios y 122 hospitalizados. En ellos se analiza la distribución por sexo, grupos de edad, causas de ceguera y patología concomitante. Del trabajo se desprende la importancia que tienen en la prevención de la ceguera la detección, tratamiento y control adecuado de la diabetes y de la hipertensión, así como la pesquisa oportuna, tratamiento y estricto control de glaucoma

Parálisis de Bell: evolución natural / Bell's palsy: its natural clinical course

Se realiza un estudio descriptivo y prospectivo de la evolución natural de 115 pacientes con parálisis facial periférica idiopática sin tratamiento ni kinesiterapia específica, reunidos entre abril de 1986 y mayo de 1987. Se analizan los factores pronósticos, en base al protocolo de Adour modificado. Se efectuaron 762 controles. La recuperación fue satisfactoria en un 91,6%. No hubo diferencia en la evolución según edad, sexo, lado afectado y patología agregada. Analizando la evolución del compromiso de los músculos considerados por separado, se observa un gran sincronismo en su recuperación final. Sin embargo, los pacientes que tuvieron una parálisis facial incompleta lograron una mejoría precoz dentro del primer mes (p<0.001). Se concluye que en el material estudiado, la evolución natural fue altamente satisfactoria; que el tipo de parálisis incompleta o completa es un indicador pronóstico del tiempo necesario para obtener la recuperación de la motilidad facial y que el control de la recuperación funcional de un solo músculo puede ser suficiente indicador evolutivo de la parálisis facial periférica

Microvascularización arterial de la papila mayor del duodeno / Arterial microvascularization of the upper duodenal papilla

Se estudian 25 piezas anatómicas frescas que incluyen el duodeno y cabeza de páncreas, las que fueron diafanizadas después de someterlas a la replesión vascular con tinta china diluída, con el fin de observar la microvascularización arterial de la papila mayor del duodeno. De los resultados obtenidos se concluye que los cuadrantes mediales 12-3 y 3-6 de la esfera horaria que representa a ésta, son los que reciben la mayor irrigación; menos vascularización arterial recibe el cuadrante 6-9 y casi nula el 9-12. Este esquema tendría importancia en cirugía (esfinteroplastía) ya que su conocimiento disminuiría la frecuencia de hemorragias y fístulas post-operatorias