Resumen La seguridad de los psicofármacos durante el embarazo es un tema crucial en la práctica clínica. En esta revisión, se hace un breve recorrido sobre los cambios en el embarazo que impactan en la farmacodinamia de los medicamentos, además, se analizan los principales grupos farmacológicos en psiquiatría y sus efectos durante el embarazo. Se identifican tres períodos críticos durante el embarazo. El período de las primeras dos semanas se asocia con un mayor riesgo de aborto espontáneo. El período de la segunda a la décima semana es el más riesgoso, ya que pueden ocurrir alteraciones teratogénicas que afectan el desarrollo fetal. El período posterior a la décima semana se caracteriza por alteraciones en el crecimiento y desarrollo funcional del feto, pero suelen ser menos graves. Los antidepresivos, especialmente los inhibidores selectivos de la receptación de serotonina (ISRS) y los antipsicóticos de segunda generación se consideran los más seguros, pero estos últimos pueden estar asociados con síndrome metabólico, cardiopatías congénitas y trastornos del neurodesarrollo. El litio se ha asociado con efectos teratogénicos y malformaciones cardíacas, mientras que el valproato está relacionado con defectos congénitos importantes. Las benzodiacepinas pueden tener efectos tóxicos y causar síndrome de abstinencia en el recién nacido. La seguridad de los psicofármacos durante el embarazo requiere una evaluación individualizada de los beneficios y riesgos. Aunque algunos grupos de psicofármacos se consideran relativamente seguros, es necesario tener precaución y considerar las posibles complicaciones asociadas con su uso durante el embarazo.

Abstract: The safety of psychoactive drugs during pregnancy is a crucial issue in clinical practice. In this review, a brief overview of the changes in pregnancy that impact the pharmacodynamics of drugs is made; in addition, the main pharmacological groups in psychiatry and their effects during pregnancy are analyzed. Three critical periods during pregnancy are identified. The period of the first two weeks is associated with an increased risk of miscarriage. The period from the second to the tenth week is the most at risk , since teratogenic effects that affect fetal development can take place. The period after the tenth week is characterized by alterations in fetal growth and functional development , however ,less severe defects. Antidepressants, especially selective serotonin reuptake inhibitors (SSRIs), and second-generation antipsychotics are considered the safest, but the latter may be associated with metabolic syndrome, congenital heart disease, and neurodevelopmental disorders. Lithium has been associated with teratogenic effects and cardiac malformations, while valproate is associated with major birth defects. Benzodiazepines can have toxic effects and cause Neonatal Withdrawal Syndrome . The safety of psychotropic drugs during pregnancy requires an individualized assesment of the benefits and risks. Although some groups of psychiatric drugs are considered relatively safe, caution is needed when considering the potential complications associated with their use during pregnancy.

ABSTRACT Introduction: Social distancing measures due to the COVID-19 pandemic prevented many children with neurodevelopmental disorders from accessing face-to-face treatments. Tele-rehabilitation grew at this time as an alternative therapeutic tool. In this study we analyzed remote cognitive rehabilitation in neurodevelopmental disorders. Methods: This was a prospective, quasi-experimental (before-after) study that included 22 patients (mean age 9.41 years) with neurodevelopmental disorders who had telerehabilitation for over six months. Results: After six months of telerehabilitation, a statistically significant improvement was found with a large effect size in these areas: attention (sustained, selective and divided), executive functions (verbal and visual working memory, categorization, processing speed), visuospatial skills (spatial orientation, perceptual integration, perception, simultanagnosia) and language (comprehensive and expressive). On the Weiss Functional Impairment Scale, all areas (family, learning and school, self-concept, activities of daily living, risk activities) improved with statistical significance. We found a positive correlation between the number of sessions and the improvement observed in executive functions (visual working memory, processing speed), attention (sustained attention, divided attention) and visuospatial skills (spatial orientation, perceptual integration, perception, simultanagnosia). We did not find statistical significance between the family structure and the number of sessions carried out. A high degree of perception of improvement and satisfaction was observed in the parents. Conclusions: Telerehabilitation is a safe alternative tool which, although it does not replace face-to-face therapy, can achieve significant cognitive and functional improvements in children with neurodevelopmental disorders.

RESUMEN Introducción: Las medidas de distanciamiento social debidas a la pandemia por COVID-19 impidieron que muchos chicos con trastornos del neurodesarrollo pudieran acceder a tratamientos presenciales. La telerrehabilitación creció en este tiempo como una herramienta terapéutica alternativa. El objetivo es analizar la telerrehXbilitación cognitiva en trastornos del neurodesarrollo. Métodos: En este estudio prospectivo, cuasi-experimental (antes-después), se incluyó a 22 pacientes (media de edad, 9,41 arios) con trastornos del neurodesarrollo que realizaron telerrehabilitación con el programa Rehametrics por más de 6 meses. Resultados: Luego de 6 meses de telerrahabilitación, se constató una mejoría estadísticamente significativa con un gran tamaño del efecto en áreas de: atención (sostenida, selectiva y dividida), funciones ejecutivas (memoria de trabajo verbal y visual, categorización, velocidad de procesamiento), habilidades visuoespaciales (orientación espacial, integración perceptiva, percepción, simultagnosia) y lenguaje (comprensivo y expresivo). En la Escala de Impedimento Funcional de Weiss mejoraron con significancia estadística todas las áreas (familia, aprendizaje y escuela, autoconcepto, actividades de la vida diaria, actividades de riesgo). Se constata una correlación positiva entre la cantidad de sesiones y la mejoría observada en funciones ejecutivas (memoria de trabajo visual, velocidad de procesamiento), atencionales (atención sostenida, atención dividida) y habilidades visuoespaciales (orientación espacial, integración perceptiva, percepción, simultagnosia). No encontramos significancia estadística entre la estructura familiar y la cantidad de sesiones realizadas. Se observó un alto grado de percepción de mejora y satisfacción en los padres. Conclusiones: La telerrehabilitación puede ser una herramienta alternativa segura que, sin reemplazar la presencialidad, puede lograr mejoras cognitivas y funcionales significativas en niños con trastornos del neurodesarrollo.

Abstract Autism Spectrum Disorders (ASD) and Attention Defi cit Hyperactivity Disorders (ADHD) are Neurodevelop mental Disorders (ND) that frequently coexist together and have etiological, biological, and clinical factors in common. The comorbidity of both neurodevelopmental disorders is associated with a delay or lack of ASD di agnosis and the development of perceptual, emotional, cognitive and behavioral alterations related to Emotional Dysregulation (ED) is common. When both TN are not diagnosed in childhood, they frequently receive wrong diagnoses at later ages, the most frequent being Border line Personality Disorder (BPD). The clinical presentation of the association of ASD and ADHD, the association with ED, differentiation of BPD, and evaluation and intervention are here analyzed. The comorbidity ASD, ADHD, ED is a more severe disorder associated to polypharmacology and hospital admissions.

Resumen Los Trastornos del Espectro Autista (TEA) y los Tras tornos por Déficit de Atención Hiperactividad (TDAH) son Trastornos del Neurodesarrollo (TN) que coexisten frecuentemente y que tienen factores etiológicos, bio lógicos, clínicos en común. La comorbilidad de ambos TN se asocia a un retraso en el diagnóstico del TEA o un diagnóstico que nunca llegan a recibir y es frecuente el desarrollo de alteraciones perceptivas, emocionales, cognitivas y conductuales relacionadas con la Desregu lación Emocional (DE). Cuando ambos TN no son diag nosticados en infancia, frecuentemente reciben diag nósticos equivocados en edades más tardías, siendo el más frecuente el Trastorno Límite de Personalidad (TLP). Se analiza la presentación clínica de la asociación del TEA y el TDAH, la asociación con DE, diferenciación del TLP y evaluación e intervención. La comorbilidad TEA, TDAH, DE, es un trastorno más severo, asociado a poli farmacología y a ingresos hospi talarios.

Abstract Autism is a neurobiologically based neurodevelop mental disorder with high prevalence and a clear pre dominance in males. It is characterized by deficits in social cognition and communication, restricted inter ests, and stereotyped behaviors, frequently associated with sensory dysfunction others neurodevelopmental conditions, neuropsychiatric disorders, epilepsy, and/or sleep disorders. This condition will accompany people throughout their lives, which will generate various sup port and treatment needs. People with autism often need to “fit in” and for this they use techniques such as camouflage, also called masking. This attitude has been observed in people with typical development and in people with autism in childhood, adolescence and adult life, although in autistic people this behavior is more intense and takes longer and with more frequency and intensity in autistic adult women. This could explain the underreporting of autism, the later diagnosis, the delay in the therapeutic approach, and the greater presence of anxiety and depression disorders related to the effort that “appearing normal” implies. Even though camouflage people appear to be “normal” and fit in perfectly, this is not an attitude that we should promote and, on the contrary, it is imperative to work to improve the environment and the under standing of each person. In this paper we will analyze the clinical aspects, their relationship with age, sex, and ways of detecting it.

Resumen El autismo es un trastorno del neurodesarrollo de base neurobiológica con alta prevalencia y claro predo mino en varones. Se caracteriza por déficits en la cog nición social y la comunicación, intereses restringidos y conductas estereotipadas, frecuentemente asociado a disfunciones sensoriales, otras condiciones del neuro desarrollo, trastornos neuropsiquiátricos, epilepsia y/o trastornos de sueño. Esta condición acompañará a las personas a lo largo de toda la vida, lo cual generará diversas necesidades de apoyo y tratamientos. Las personas con autismo muchas veces necesitan “encajar”, para ello utilizan técnicas como el camuflaje, también denominada enmascara miento. Esta actitud se ha observado en personas con desarrollo típico y en personas con autismo en la infan cia, adolescencia y vida adulta, aunque en los autistas esta conducta es más intensa y lleva más tiempo, y se la identifica con más frecuencia e intensidad en mujeres adultas autistas. Esto podría explicar el subregistro de autismo, el diagnóstico más tardío, el retraso en el abordaje tera péutico y la mayor presencia de trastornos de ansiedad y depresión relacionados al esfuerzo que implica “pa recer normal”. Si bien las personas al camuflar parecen ser “normales” y encajan perfectamente, ésta no es una actitud que debiera propiciarse, por el contrario es imperativo trabajar para mejorar el entorno y la com prensión de cada persona. En este trabajo analizamos los aspectos clínicos, su relación con la edad, sexo, y formas de detección del mismo.

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.

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 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.

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: Extensive intraventricular hemorrhage (IVH) in very preterm newborns (VPNB) is associated with mortality and severe long-term neurological sequelae. Objectives: To know the most frequent neurological pathologies associated with extensive IVH, to determine the functional outcomes of mobility in the motor area and intellectual capacity in the cognitive area, to analyze the association between both areas and to know the schooling achieved. Patients and Method: Descriptive and longitudinal study in VPNB with extensive IVH born between 2001 and 2014. They underwent protocolized neurological follow-up until school age. The functional outcomes in mobility and intellectual capacity were categorized into 4 levels: level 1 corresponds to good functionality and autonomy; level 2, functionality that allows independence, with support in some tasks; level 3 requires constant external support; and level 4 where there is total dependence. The association was analyzed using Chi-square and Cramer’s V coefficient. Results: 74 children completed the follow-up; the most frequent associated neurological pathologies were neurodevelopmental disorders, hypertensive hydrocephalus, and epilepsy. Independent mobility (normal or with limitations) reached 74.4% while 24.3% used wheelchairs. 51.3% was categorized as normal to borderline intellectual range, 12.2% as mild intellectual disability (ID), 17.6% as moderate ID, and 19.9% as severe to profound ID. There was a strong statistical association between functional levels of mobility and intellectual capacity (p < 0.000 and V = 0.62). Schooling was proportional to intellectual capacity: 56.8% attended regular schools, 27.0% attended special schools, and 16.2% had no schooling. Conclusions: 2/3 VPNB with extensive IVH showed positive functional outcomes, from normal to mild limitations that allow an almost autonomous life; in 1/3 the outcomes were unfavorable in mobility and cognitive performance, and there was a strong statistical correlation between both areas studied. Schooling was consistent with the intellectual level.

Resumen: La hemorragia intraventricular extensa (HIVE) en niños muy prematuros (NMP) conlleva mortalidad y graves secuelas a largo plazo. Objetivos: Conocer las patologías neurológicas más frecuentes asociadas a HIVE, determinar los resultados funcionales de movilidad en el área motora y capacidad intelectual en el área cognitiva, analizar la asociación entre ambas áreas y conocer la escolaridad alcanzada. Pacientes y Método: Estudio descriptivo y longitudinal en NMP con HIVE nacidos entre 2001 y 2014, se les realizó seguimiento neurológico protocolizado hasta la edad escolar. Los resultados funcionales en movilidad y capacidad intelectual fueron categorizados en 4 niveles: nivel 1 corresponde a buena funcionalidad y autovalencia; nivel 2, funcionalidad que permite independencia, con apoyo en algunas tareas; nivel 3 requiere de un constante apoyo externo; y nivel 4 en que existe una total dependencia. Para la asociación se usó Chi cuadrado y coeficiente V de Cramer. Resultados: Se incluyeron 74 niños, las patologías neurológicas más frecuentes fueron trastornos del neurodesarrollo, hidrocefalia hipertensiva y epilepsia. La movilidad independiente (normal o con limitaciones) alcanzó un 74,4% y con silla de ruedas el 24,3%. El 51,3% se categorizó en rango intelectual normal a limítrofe, con discapacidad intelectual leve un 12,2%, moderada un 17,6% y severa a profunda un 19,9%. Hubo fuerte asociación estadística entre niveles funcionales de movilidad y capacidad intelectual (p < 0,000 y V = 0,62). La escolaridad fue proporcional a la capacidad intelectual; el 56,8% asistió a escuelas regulares, 27,0% a escuelas especiales y el 16,2% sin escolaridad. Conclusión: 2/3 de los NMP con HIVE mostraron resultados funcionales positivos, desde normal a leves limitaciones que permiten una vida casi autónoma, en 1/3 los resultados fueron desfavorables en movilidad y desempeño cognitivo, hubo fuerte correlación estadística entre ambas áreas estudiadas. La escolaridad fue concordante con el nivel intelectual.

Abstract: Extensive intraventricular hemorrhage (IVH) in very preterm newborns (VPNB) is associated with mortality and severe long-term neurological sequelae. Objectives: To know the most frequent neurological pathologies associated with extensive IVH, to determine the functional outcomes of mobility in the motor area and intellectual capacity in the cognitive area, to analyze the association between both areas and to know the schooling achieved. Patients and Method: Descriptive and longitudinal study in VPNB with extensive IVH born between 2001 and 2014. They underwent protocolized neurological follow-up until school age. The functional outcomes in mobility and intellectual capacity were categorized into 4 levels: level 1 corresponds to good functionality and autonomy; level 2, functionality that allows independence, with support in some tasks; level 3 requires constant external support; and level 4 where there is total dependence. The association was analyzed using Chi-square and Cramer’s V coefficient. Results: 74 children completed the follow-up; the most frequent associated neurological pathologies were neurodevelopmental disorders, hypertensive hydrocephalus, and epilepsy. Independent mobility (normal or with limitations) reached 74.4% while 24.3% used wheelchairs. 51.3% was categorized as normal to borderline intellectual range, 12.2% as mild intellectual disability (ID), 17.6% as moderate ID, and 19.9% as severe to profound ID. There was a strong statistical association between functional levels of mobility and intellectual capacity (p < 0.000 and V = 0.62). Schooling was proportional to intellectual capacity: 56.8% attended regular schools, 27.0% attended special schools, and 16.2% had no schooling. Conclusions: 2/3 VPNB with extensive IVH showed positive functional outcomes, from normal to mild limitations that allow an almost autonomous life; in 1/3 the outcomes were unfavorable in mobility and cognitive performance, and there was a strong statistical correlation between both areas studied. Schooling was consistent with the intellectual level.

Resumen: La hemorragia intraventricular extensa (HIVE) en niños muy prematuros (NMP) conlleva mortalidad y graves secuelas a largo plazo. Objetivos: Conocer las patologías neurológicas más frecuentes asociadas a HIVE, determinar los resultados funcionales de movilidad en el área motora y capacidad intelectual en el área cognitiva, analizar la asociación entre ambas áreas y conocer la escolaridad alcanzada. Pacientes y Método: Estudio descriptivo y longitudinal en NMP con HIVE nacidos entre 2001 y 2014, se les realizó seguimiento neurológico protocolizado hasta la edad escolar. Los resultados funcionales en movilidad y capacidad intelectual fueron categorizados en 4 niveles: nivel 1 corresponde a buena funcionalidad y autovalencia; nivel 2, funcionalidad que permite independencia, con apoyo en algunas tareas; nivel 3 requiere de un constante apoyo externo; y nivel 4 en que existe una total dependencia. Para la asociación se usó Chi cuadrado y coeficiente V de Cramer. Resultados: Se incluyeron 74 niños, las patologías neurológicas más frecuentes fueron trastornos del neurodesarrollo, hidrocefalia hipertensiva y epilepsia. La movilidad independiente (normal o con limitaciones) alcanzó un 74,4% y con silla de ruedas el 24,3%. El 51,3% se categorizó en rango intelectual normal a limítrofe, con discapacidad intelectual leve un 12,2%, moderada un 17,6% y severa a profunda un 19,9%. Hubo fuerte asociación estadística entre niveles funcionales de movilidad y capacidad intelectual (p < 0,000 y V = 0,62). La escolaridad fue proporcional a la capacidad intelectual; el 56,8% asistió a escuelas regulares, 27,0% a escuelas especiales y el 16,2% sin escolaridad. Conclusión: 2/3 de los NMP con HIVE mostraron resultados funcionales positivos, desde normal a leves limitaciones que permiten una vida casi autónoma, en 1/3 los resultados fueron desfavorables en movilidad y desempeño cognitivo, hubo fuerte correlación estadística entre ambas áreas estudiadas. La escolaridad fue concordante con el nivel intelectual.

ABSTRACT Objective: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. Case description: Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar crease and arachnoid cyst. The microarray-based comparative genomic hybridization (a-CGH) identified copy number variations (CNVs) in five regions: 9q34.3, 6p22.1, Yq11.223, Yp11.23, and 2q24.1. The heterozygous microdeletion in 9q34.3 involving the EHMT1 gene confirms the diagnosis of KS. Comments: The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient's clinical condition (arachnoid cyst, single palmar fold and ligament laxity), compared to other individuals with only KS genetic alteration, making the dignosis of the disease harder. Objective (KS variants description old delay development hypertelorism forehead brachycephaly hypotonia laxity cyst microarraybased microarray based aCGH CGH (a-CGH (CNVs regions 9q343 q 9q34 3 6p221 p 6p22 1 6p22.1 Yq11223 Yq Yq11 223 Yq11.223 Yp1123 Yp Yp11 23 Yp11.23 2q241 2q24 2q24.1 9q34. EHMT Comments andor or significance 2 Y patients s , laxity) alteration harder 9q3 6p2 6p22. Yq1122 Yq1 22 Yq11.22 Yp112 Yp1 Yp11.2 2q2 2q24. 9q 6p Yq112 Yq11.2 Yp11. 2q Yq11.

RESUMO Objetivo: Relatar um caso raro de paciente com diagnóstico molecular de síndrome de Kleefstra (SK) que apresenta quatro outras alterações cromossômicas envolvendo variantes patogênicas. Descrição do caso: Paciente masculino, dois anos de idade, com atraso global de desenvolvimento neuropsicomotor, hipertelorismo ocular, fronte ampla, braquicefalia, hipotonia, frouxidão ligamentar, prega palmar única unilateral e cisto aracnoide. Exame de hibridização genômica comparativa (a-CGH) identificou variações de número de cópias (CNV) em cinco regiões: 9q34.3, 6p22.1, Yq11.223, Yp11.23 e 2q24.1. A microdeleção heterozigótica em 9q34.3 confirma o diagnóstico de síndrome de Kleefstra. Comentários: A presença das CNV patogênicas e/ou de significado incerto, localizadas nos cromossomos 2, 6 e Y, pode estar contribuindo para uma variabilidade no quadro clínico do paciente (cisto aracnoide, prega palmar única e frouxidão ligamentar) em relação a outros indivíduos somente com alteração genética da SK, dificultando o diagnóstico da doença. Objetivo SK (SK masculino idade neuropsicomotor ocular ampla braquicefalia hipotonia ligamentar aracnoide aCGH CGH (a-CGH (CNV regiões 9q343 q 9q34 3 6p221 p 6p22 1 6p22.1 Yq11223 Yq Yq11 223 Yq11.223 Yp1123 Yp Yp11 23 Yp11.2 2q241 2q24 2q24.1 9q34. Comentários eou ou incerto 2 Y doença 9q3 6p2 6p22. Yq1122 Yq1 22 Yq11.22 Yp112 Yp1 Yp11. 2q2 2q24. 9q 6p Yq112 Yq11.2 2q Yq11.

Resumen: La pandemia ha repercutido en los hábitos cotidianos y en la salud de las personas en múltiples formas, afectando el acceso a las consultas médicas, tratamientos especializados y educación. Las poblaciones con mayor vulnerabilidad socioeconómica o de salud, o ambas, parten de un lugar más desfavorecido respecto a otras ante una situación de pandemia. En el marco de la situación sanitaria de emergencia, realizamos un estudio con el fin de conocer el perfil de desarrollo de los niños atendidos en la Policlínica de Neurodesarrollo del Servicio de Neuropediatría del CHPR durante 2020 y comparar el acceso a servicios de salud y educación con el de aquellos atendidos en 2019, por medio de un estudio descriptivo longitudinal. La información fue relevada mediante entrevista telefónica con los referentes y el análisis de los informes de la evaluación del desarrollo realizada. Según los resultados obtenidos se constata un menor acceso a la educación y a la salud en tiempos de pandemia y repercusiones variadas en la vida cotidiana de los niños con trastornos del neurodesarrollo, manifestando los referentes 60% de impacto negativo, principalmente en el aumento de la irritabilidad y la inquietud. Las restricciones de la pandemia han puesto en primer plano las consecuencias de problemáticas que existían previamente, como ser el costoso acceso a tratamientos especializados y dificultades en el acceso a la educación de calidad adaptada al perfil de desarrollo de cada niño. Esperamos, con el presente trabajo, aportar en mejorar las condiciones ambientales y el acceso a oportunidades de los niños pequeños con patologías del desarrollo.

Summary: The pandemic has impacted people’s daily habits and health in multiple ways, affecting access to medical consultations, specialized treatments, and education. Populations with greater socioeconomic and/or health vulnerability start from a more disadvantaged level in a pandemic situation. Within the framework of the emergency health situation, we carried out a longitudinal descriptive study in order to know the development profile of the children assisted at the CHPR Clinic in 2020 and compared their access to health and education services to those assisted in 2019. The data was collected through a telephone interview with the referents and the data analyses were obtained from the development assessment reports carried out. The results showed that there is less access to education and health in pandemic times and there are various impacts on the daily life of children with neurodevelopmental disorders. Referents showed a 60% negative impact, mainly in the increase in irritability and restlessness. The pandemic restrictions brought on the consequences of previously existing problems, such as expensive access to specialized treatments and difficulty to access quality education adapted to the development profile of individual children. This paper intends to contribute to the improvement of the environmental conditions and access to opportunities of young children with developmental pathologies.

Resumo: A pandemia teve impacto nos hábitos diários e na saúde das pessoas de múltiplas formas, afetando o acesso a consultas médicas, tratamentos especializados e educação. As populações com maior vulnerabilidade socioeconómica e/ou sanitária partem dum nível mais desfavorecido quando confrontados com a situação pandêmica. No âmbito da situação de emergência sanitária, realizamos um estudo descritivo longitudinal com o objetivo de conhecer o perfil de desenvolvimento das crianças atendidas na referida Policlínica durante o ano de 2020 e comparar o acesso aos serviços de saúde e educação com o das crianças atendidas no ano de 2019. As informações foram coletadas através de entrevistas telefônicas com os referentes e da análise dos relatórios da avaliação de desenvolvimento realizada. De acordo com os resultados obtidos, há menor acesso à educação e à saúde em tempos de pandemia e existem repercussões variadas no quotidiano das crianças com perturbações do neurodesenvolvimento. Os referentes reportaram um impacto negativo de 60%, principalmente no aumento da irritabilidade e da inquietação. As restrições da pandemia trouxeram as consequências de problemas anteriormente existentes, como o acesso dispendioso a tratamentos especializados e as dificuldades de acesso a uma educação de qualidade e adaptada ao perfil de desenvolvimento de cada criança. Esperamos com este trabalho contribuir para a melhoria das condições ambientais e do acesso a oportunidades para crianças pequenas com patologias de desenvolvimento.

Resumo Introdução Conhecer que tipo de informação sensorial é processada e a reação a diferentes estímulos sensoriais é relevante para a abordagem de transtornos psiquiátricos e de neurodesenvolvimento em adolescentes e adultos. Este estudo corresponde a uma revisão da literatura sobre as diferentes aplicações de três dos instrumentos extensivamente utilizados para avaliar a modulação sensorial a partir da adolescência. Objetivos Identificar e sintetizar as informações disponíveis sobre as aplicações do questionário de processamento sensorial e do perfil sensorial para adolescentes e adultos. Método Revisão narrativa da literatura, a partir de um teste de sensibilidade para definir palavras-chave e fontes de dados. A pesquisa foi realizada nos bancos de dados Web of Science, Scopus, SciELO, LILACS e na Revista Chilena de Terapia Ocupacional, de 2002 a janeiro de 2023. Resultados Um total de 64 artigos foi analisado e os achados foram que o uso do instrumento de perfil sensorial para adolescentes e adultos é usado em mais de 20 patologias e também na população saudável. Os dois questionários de processamento sensorial está em fase inicial de implementação e validação do instrumento em vários países. Conclusão Esta é a primeira revisão narrativa da literatura sobre os três instrumentos de avaliação do processamento sensorial disponíveis para adolescentes e adultos. Esses três instrumentos clínicos são complementares e fornecem informações relevantes ao clínico para diagnosticar o processamento sensorial e orientar a intervenção da terapia ocupacional. adolescência palavraschave palavras chave Science Scopus SciELO Ocupacional 200 2023 6 2 saudável países ocupacional 202

Abstract Introduction Understanding the type of sensory information processed and the reactions to various sensory stimuli is critical for neurodevelopmental and psychiatric disorders in adolescents and adults. This literature review explores the different applications of three of the most commonly used instruments for assessing sensory modulation from adolescence. Objective To identify and synthesize the existing information about the applications of the sensory profile for adolescents and adults, as well as the sensory processing questionnaire. Method Narrative review of the literature in which was conducted a sensitivity test to establish keywords and identify relevant data sources. The research was carried out using databases such as WOS, Scopus, SciELO, LILACS, and the Chilean Journal of Occupational Therapy, covering the period from 2002 to January 2023, following predefined inclusion/exclusion criteria. Results A total of 64 articles were analyzed where the findings were that the use of the sensory profile instrument for adolescents and adults is used in more than 20 pathologies and also in healthy population. The sensory processing questionnaire is in the initial stage of application and validation of the instrument in several countries. Conclusion This is the first narrative literature review of the three sensory processing assessment instruments available for adolescents and adults. These three clinical instruments are complementary and provide relevant information to the clinician for diagnosing sensory processing and guiding occupational therapy intervention. adolescence sources WOS Scopus SciELO LILACS Therapy 200 2023 inclusionexclusion inclusion exclusion criteria 6 2 population countries intervention 202

Resumen Introducción Conocer qué tipo de información sensorial se procesa y la reacción a los diferentes estímulos sensoriales es relevante para el abordaje de los trastornos psiquiátricos y del neurodesarrollo en adolescentes y adultos. Este estudio corresponde a una revisión de la literatura sobre las diferentes aplicaciones de tres de los instrumentos más utilizados que evalúan la modulación sensorial desde la adolescencia. Objetivos Identificar y sintetizar la información disponible sobre las aplicaciones del perfil sensorial para adolescentes y adultos y el cuestionario del procesamiento sensorial. Método Revisión narrativa de la literatura, donde se realizó una prueba de sensibilidad para definir palabras clave y fuentes de datos. Las investigaciones se realizaron en las bases de datos Web of Science, Scopus, SciELO, LILACS y la Revista Chilena de Terapia Ocupacional, desde el año 2002 a enero del año 2023. Resultados Se analizaron 64 artículos en total donde los hallazgos fueron que el uso del instrumento del perfil sensorial para adolescentes y adultos se utiliza en más de 20 patologías y también en población sana. Los dos cuestionarios de procesamiento sensorial está en la etapa inicial de aplicación y validación del instrumento en varios países. Conclusión Esta es la primera revisión narrativa de la literatura que se realiza sobre los tres instrumentos de evaluación del procesamiento sensorial disponibles para adolescentes y adultos. Estos tres instrumentos clínicos son complementarios y proporcionan información relevante al clínico para el diagnóstico del procesamiento sensorial y la orientación de la intervención de terapia ocupacional. adolescencia Science Scopus SciELO Ocupacional 200 2023 6 2 sana países ocupacional 202

Abstract ADHD is a neurodevelopmental disorder that includes attention deficit and hyperactivity. This cognitive disorder is frequently studied in the child population. However, it is rarely addressed in the adult population, specifically in higher education, which leads to ignorance of many of the scope of this disorder, as well as making the strengths and difficulties of these students invisible when facing their training process, even though this condition does not decrease or disappear with age. For this reason, the objective of this study has been to describe the perceptions of higher education students with ADHD regarding the characteristics of their condition experienced during their training process. The methodological approach followed in this research is qualitative, with a comprehensive nature of the stories given by students with ADHD from a university in south-central Chile, who voluntarily agreed to be interviewed. The data were reviewed through content analysis, based on the creation of categories that allowed us to reveal the difficulties and abilities perceived by the students to face university life. Among the results, these students' knowledge of themselves stands out, as well as their effort to carry out tasks to meet academic demands. In conclusion, it is possible to highlight that both self-knowledge and sustained commitment are good tools for performing better in the university world.

Resumen El TDAH es un trastorno del neurodesarrollo, que contempla el déficit de atención y la hiperactividad. Este desorden cognitivo es frecuentemente estudiado en población infantil pero escasamente abordado en la población adulta, específicamente en educación superior. Ello, pese a que esta condición no disminuye ni desaparece con la edad, lleva a desconocer muchos de los alcances que tiene este trastorno, así como invisibilizar las fortalezas y dificultades de estos estudiantes al afrontar su proceso de formación. Por lo mismo, el objetivo de este estudio ha sido describir las percepciones del estudiantado de educación superior con TDAH respecto de las características propias de su condición vivenciadas durante su proceso formativo. El enfoque metodológico seguido en esta investigación es cualitativo, con carácter comprensivo de los relatos esgrimidos por estudiantes con TDAH de una universidad del centro sur de Chile, quienes voluntariamente accedieron a ser entrevistados. Los datos fueron revisados a través de análisis de contenido, a partir del levantamiento de categorías que permitieron develar las dificultades y habilidades percibidas por el estudiantado para afrontar la vida universitaria. Entre los resultados resalta el conocimiento que tienen estos estudiantes de sí mismos, así como el esfuerzo con el que llevan a cabo las tareas para cumplir con las exigencias académicas. Como conclusión, es posible destacar que tanto el autoconocimiento como el compromiso sostenido son buenas herramientas para desempeñarse mejor en el mundo universitario.

Resumo O TDAH é um distúrbio do neurodesenvolvimento que inclui déficit de atenção e hiperatividade. Este distúrbio cognitivo é frequentemente estudado na população infantil, mas raramente abordado na população adulta, especificamente no ensino superior. Isso, apesar de essa condição não diminuir ou desaparecer com a idade, o que leva ao desconhecimento de muitos sobre a abrangência desse transtorno, além de invisibilizar as potencialidades e dificuldades desses alunos diante do seu processo de formação. Por esse motivo, o objetivo deste estudo foi descrever as percepções de estudantes do ensino superior com TDAH sobre as características de sua condição vivenciada durante seu processo educativo. A abordagem metodológica seguida nesta pesquisa é qualitativa, com um caráter abrangente das histórias contadas por estudantes com TDAH de uma universidade no centro-sul do Chile, que aceitaram voluntariamente ser entrevistados. Os dados foram revisados por meio de análise de conteúdo, a partir da criação de categorias que permitiram revelar as dificuldades e habilidades percebidas pelos estudantes para enfrentar a vida universitária. Dentre os resultados, destaca-se o conhecimento que esses alunos têm de si mesmos, bem como o esforço com que realizam tarefas para atender às demandas acadêmicas. Concluindo, é possível destacar que tanto o autoconhecimento quanto o comprometimento sustentado são boas ferramentas para um melhor desempenho no mundo universitário.

ABSTRACT Autism Spectrum Disorder (ASD) is classified by Diagnostic and Statistical Manual of Mental Disorders (DSM-5) as a neurodevelopmental disorder, whose characteristics are mainly deficits in social communication and a restricted range of interests. There are several studies about autism, speech, and language in the literature, but few correlate speech and autism. This study aims to carry out a case study that will address autism, speech, and PROMPT (Restructuring Oral Muscular Phonetic Targets) and also to describe the speech improvement in the participant with autism using the method. The target words were defined for the entire intervention according to the System Analysis Observation (SAO) and Motor Speech Hierarchy (MSH), which are parts of the PROMPT evaluation. After the evaluation, the participant was attended for 16 sessions, once weekly, with the objective of improving their speech. After analyzing the data, it was possible to observe improvement in all aspects outlined according to the pre-treatment evaluation of the method such as phonatory control, mandibular control, lip-facial control and lingual control as well as in the sequenced movement although this was not the aim outlined in the evaluation. It was also possible to measure the improvement of an adequate number of words, an adequate number of phonemes, percentages of correct consonants – revised (PCC-R), and intelligibility. ASD (ASD DSM5 DSM 5 (DSM-5 disorder interests literature Restructuring Targets SAO (SAO MSH, MSH , (MSH) 1 sessions weekly data pretreatment pre treatment lipfacial lip facial phonemes PCCR, PCCR PCC R (PCC-R) intelligibility (DSM- (MSH (PCC-R (DSM

RESUMO O Transtorno do Espectro Autista (TEA) é classificado pelo Manual de Diagnóstico e Estatístico de Transtornos Mentais (DSM-5) como um Transtorno do Neurodesenvolvimento, sendo caracterizado, principalmente, por alterações na comunicação social e pela presença de um repertório restrito de atividades e interesses. Na literatura, há muitos estudos sobre autismo, fala e linguagem, mas poucos correlacionando fala e autismo. Este estudo teve como finalidade realizar um estudo de caso que abordou autismo, fala e PROMPT (Pontos para a Reestruturação de Objetivos Fonéticos e Oro-Musculares) e mensurou a melhora da fala no participante com autismo, utilizando o método. Foram definidas palavras-alvo para toda a intervenção, conforme o Sistema de Observação e Análise (SOA) e Hierarquia Motora de Fala (HMF), que fazem parte da avaliação de PROMPT. Após a avaliação, o participante foi atendido por 16 sessões, uma vez semanalmente. Após análise dos dados, observou-se melhora em todos os aspectos que foram delineados de acordo com a avaliação no pré-tratamento, como controle fonatório, controle mandibular, controle lábio-facial e controle lingual, como também no movimento sequenciado, apesar deste não ser o objetivo traçado na avaliação. Também foi possível mensurar melhora no número de vocábulos adequados, número de fonemas adequados, porcentagens de consoantes corretas – revisado (PCC-R) e inteligibilidade. TEA (TEA DSM5 DSM 5 (DSM-5 Neurodesenvolvimento caracterizado principalmente interesses literatura autismo linguagem Pontos OroMusculares Oro Musculares Oro-Musculares método palavrasalvo palavras alvo intervenção SOA (SOA HMF, HMF , (HMF) 1 sessões semanalmente dados observouse observou se prétratamento, prétratamento pré tratamento, tratamento pré-tratamento fonatório mandibular lábiofacial lábio facial lingual sequenciado adequados PCCR PCC R (PCC-R inteligibilidade (DSM- (HMF (DSM

RESUMEN Fundamento: Dos de las tres formas en que se presentan los quistes intracraneales de la línea media anterior son: cavum septum pellucidum y cavum vergae; estos normalmente desaparecen después del nacimiento, de persistir suelen ser asintomáticos, pero también pueden estar asociados a manifestaciones obstructivas, trastornos psicóticos o alteraciones del neurodesarrollo que demandan de un seguimiento clínico. Objetivo: Reportar el caso de un paciente de 6 meses con persistencia de estructuras del periodo embrionario en posible asociación con retraso del desarrollo psicomotor. Presentación de caso: Por lo infrecuente que resulta en la práctica, se informa el caso de un paciente de 6 meses con una persistencia del cavum septum pellucidum y cavum vergae en el que se destaca la posible asociación del retraso del neurodesarrollo a la persistencia de estas estructuras. El diagnóstico se realizó de forma precoz y se intervino oportunamente. Conclusiones: La presentación del caso aportó evidencias epidemiológicas que favorecen la posible asociación entre la persistencia de estas estructuras embrionarias y el retraso del desarrollo psicomotor.

ABSTRACT Background: Two out of the three forms in which intracranial anterior midline cysts present are: These usually disappear after birth; if they persist, they are often asymptomatic, but may also be associated with obstructive manifestations, psychotic disorders or neurodevelopmental disorders that require clinical follow up. Objective: To report a case of a 6-month-old patient with persistence of embryonic period structures in possible association with psychomotor developmental retardation. Case presentation: Because of how infrequent it is in practice, a case of a 6-month-old patient with a persistent cavum septum pellucidum and cavum vergae is reported in which the possible association of neurodevelopmental delay with the persistence of these structures is pointed out. The diagnosis was made in an early manner and it was timely intervened. Conclusions: The case presentation provided epidemiological evidences that encourage the possible association among the persistence of these embryonic structures and psychomotor developmental retardation.

ABSTRACT Twice-exceptionality is characterized as the presence of high performance concomitantly with deficiencies or incompatible conditions. An example is when giftedness manifest associated with neurodevelopmental disorders. This study is a clinical case report referring to the evaluative and interventional process of a 9- year-old child with the paradoxical combination of giftedness associated with dyslexia. It aims to compare the performance in phonological processing, reading and writing before and after phonological remediation. In the first assessment, the child demonstrated alphabetic level in reading, a transition phase between syllabic-alphabetic and alphabetical writing levels, and below-expected performance in phonological processing skills. After intervention, the results showed consistent improvements in phonological processing, the consolidation of alphabetical writing and orthographic reading level. In general, children with isolated dyslexia have persistent difficulties in several skills after intervention. The evolution shown after phonological remediation, especially at reading level, shows different characteristics than expected. Thus, it can be concluded that twice-exceptionality may have favored the overcoming of some of the shown difficulties more successfully. Studies on these combined conditions can contribute to a better understanding of this framework during the development of learning and to formulate specialized interventions. Twiceexceptionality Twice exceptionality disorders 9 yearold year old remediation assessment syllabicalphabetic syllabic levels belowexpected below expected intervention general Thus twiceexceptionality twice successfully interventions

RESUMO A dupla-excepcionalidade é caracterizada pela presença de alto desempenho concomitante a deficiências ou condições incompatíveis, como é o caso de altas habilidades associadas a transtornos do neurodesenvolvimento. Esse estudo é um relato de caso clínico referente ao processo avaliativo e interventivo de uma criança de 9 anos com a combinação paradoxal de altas habilidades associadas à dislexia. O objetivo foi comparar o desempenho nas tarefas de processamento fonológico, leitura e escrita pré e pós remediação fonológica. Na primeira avaliação, a criança apresentou nível alfabético na leitura, fase de transição entre os níveis silábico-alfabético e alfabético na escrita e desempenho abaixo do esperado nas habilidades do processamento fonológico. Após a intervenção, houve melhora em habilidades do processamento fonológico, consolidação da escrita alfabética e do nível ortográfico de leitura. Em geral, crianças com dislexia isolada apresentam dificuldades persistentes em várias habilidades após intervenção. A evolução demonstrada após a remediação fonológica, principalmente no nível de leitura, mostra características diferentes do esperado. Assim, pode-se concluir que a dupla-excepcionalidade pode ter favorecido a superação de algumas de suas dificuldades de forma mais exitosa. Estudos sobre estas condições combinadas podem contribuir para a melhor compreensão deste quadro durante o desenvolvimento da aprendizagem e para a formulação de intervenções especializadas. duplaexcepcionalidade dupla excepcionalidade incompatíveis neurodesenvolvimento fonológico fonológica avaliação silábicoalfabético silábico intervenção geral Assim podese se exitosa especializadas