Effects of remote learning during COVID-19 lockdown on children's learning abilities and school performance: A systematic review.

This systematic review describes the effects of COVID-19 lockdowns on children's learning and school performance. A systematic search was conducted using three databases. A total of 1787 articles were found, and 24 articles were included. Overall, academic performance was negatively affected by COVID-19 lockdowns, with lower scores in standardized tests in the main domains compared to previous years. Academic, motivational, and socio-emotional factors contributed to lower performance. Educators, parents, and students reported disorganization, increased academic demands, and motivational and behavioral changes. Teachers and policymakers should consider these results in developing future education strategies.

Experience of Subcutaneous Levetiracetam in Palliative Care.

BACKGROUND: Seizures are common in palliative care patients and its control is essential in the management of these patients as it helps to reduce suffering at the end of life. Subcutaneous levetiracetam has been used off-license for seizure control in palliative care. OBJECTIVE: The objective of the study was to describe our experience with subcutaneous levetiracetam in two hospitals in Bogota, Colombia. METHODS: We conducted a retrospective review of patients treated with subcutaneous levetiracetam in two hospitals in Colombia during 2019-2021. Data were extracted from medical records, and participants were followed up as outpatients. RESULTS: Twenty-one patients were included into the study. No severe adverse effects or rise in ictal frequency were documented. Twelve patients died during hospitalization and nine continued treatments as outpatients. The principal diagnosis was structural focal epilepsy. The daily dose of levetiracetam ranged from 1,000 mg to 3,000 mg, and the duration of treatment varied among subjects between 1 and 360 days. CONCLUSION: Subcutaneous levetiracetam was well tolerated and effective in controlling seizures in palliative care when oral administration or intravenous access was not an option. Randomized controlled trials are needed to elucidate the efficacy and tolerability of subcutaneous levetiracetam in clinical practice.

Establishing the Relationship Between Attention Deficit Hyperactivity Disorder and Emotional Facial Expression Recognition Deficit: A Systematic Review.

OBJECTIVE: In this review, we examined if there is a deficit in facial recognition of emotion (FER) in children, adolescents, and adults with attention deficit hyperactivity disorder (ADHD). BACKGROUND: Emotional regulation is impaired in ADHD. Although a facial emotion recognition deficit has been described in this condition, the underlying causal mechanisms remain unclear. METHODS: The search was performed in six databases in September 2022. Studies assessing children, adolescents, or adults with isolated or comorbid ADHD that evaluated participants using a FER task were included. RESULTS: Twelve studies out of 385 were selected, with participants ranging in age from 6 to 37.1 years. A deficit in FER specific to ADHD, or secondary to comorbid autism spectrum disorder, anxiety, and oppositional symptoms, was found. CONCLUSIONS: There is a FER deficit in patients with ADHD. Adults showed improved recognition accuracy, reflecting partial compensation. ADHD symptoms and comorbidities appear to influence FER deficits.

Dysautonomia in people with epilepsy: A scoping review.

BACKGROUND: Epilepsy is one of the most common neurological diseases and has high morbidity and mortality. Multiple methods for assessing dysautonomia have been reported; however, the patient characteristics and epilepsy features that drive any method selection are unclear. People with epilepsy (PWE) can experience sudden unexpected death in epilepsy (SUDEP) and one reason can be dysautonomia. If dysautonomia can be detected in PWE before a severe event, then it could complement and redirect patient treatment and monitoring. OBJECTIVE: To map the available literature on dysautonomia in PWE and describe patients' characteristics and methods used to evaluate dysautonomia. METHODS: We performed a scoping literature review. We searched PubMed, Scopus, Embase, and hand searched starting from the first registry in the literature until August 2019. Studies were independently assessed by three authors and two epileptologists. We present data in tables and summarize information according to the following structure: population, concepts, and context. RESULTS: Thirty-five studies were included in the analysis with epidemiological designs including case reports (23), cross-sectional studies (4), case‒controls (7), and cohort studies (1). A total of 618 patients were enrolled. Heart rate variability, arrhythmia, blood pressure, the tilt-table test, polysomnography, respiratory function, and magnetic resonance imaging were the methods most commonly used to assess dysautonomia in PWE. A detailed description of the heart rate variability assessment is presented. CONCLUSIONS: This review provides a broad description of the available literature identifying clinical findings, the most frequently reported assessment measurements of dysautonomia, in temporal lobe epilepsy and extratemporal epilepsies.

Molecular Mimicry of SARS-CoV-2 Spike Protein in the Nervous System: A Bioinformatics Approach.

Introduction: The development of vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in record time to cope with the ongoing coronavirus disease 2019 (COVID-19) pandemic has led to uncertainty about their use and the appearance of adverse neurological reactions. The SARS-CoV-2 spike protein (SP) is used to produce neutralizing antibodies and stimulate innate immunity. However, considering the alterations in the nervous system (NS) caused by COVID- 19, cross-reactions are plausible. Objective: To identify peptides in Homo sapiens SP-like proteins involved in myelin and axon homeostasis that may be affected due to molecular mimicry by antibodies and T cells induced by interaction with SP. Materials and methods: A bioinformatics approach was used. To select the H. sapiens proteins to be studied, related biological processes categorized based on gene ontology were extracted through the construction of a protein-protein interaction network. Peripheral myelin protein 22, a major component of myelin in the peripheral nervous system, was used as the query protein. The extracellular domains and regions susceptible to recognition by antibodies were extracted from UniProt. In the study of T cells, linear sequence similarity between H. sapiens proteins and SP was assessed using BLASTp. This study considered the similarity in terms of biochemical groups per residue and affinity to the human major histocompatibility complex (human leukocyte antigen I), which were evaluated using Needle and NetMHCpan 4.1, respectively. Results: A large number of shared pentapeptides between SP and H. sapiens proteins were identified. However, only a small group of 39 proteins was linked to axon and myelin homeostasis. In particular, some proteins, such as phosphacan, attractin, and teneurin-4, were susceptible targets of B and T cells. Other proteins closely related to myelin components in the NS, such as myelin-associated glycoprotein, were found to share at least one pentamer with SP in extracellular domains. Conclusion: Proteins involved in the maintenance of nerve conduction in the central and peripheral NS were identified in H. sapiens. Based on these findings, re-evaluation of the vaccine composition is recommended to prevent possible neurological side effects.

Utility of Routine EEG in Emergency Department and Inpatient Service.

OBJECTIVE: The most important indication for EEGs is the investigation of epileptic and nonepileptic seizures. However, it is unclear whether EEG in the emergency depatment (ED) can be useful in managing other conditions. Our objective was to investigate the usefulness of EEGs in the ED. METHODS: We performed an observational, descriptive, retrospective study based on clinical records between 2018 and 2019. We evaluated patients admitted to our ED or hospital wards who underwent an EEG. We defined the EEG results as useful when they prompted changes in antiepileptic drug (AED) treatment or clinical management. RESULTS: We gathered information from 236 patients with a mean age of 59.23 years (SD ±22.6), of whom 47.9% were women. In patients with seizures, 18.2% were generalized, 27.1% were focal, and 18.6% were unknown. Overall, 25.8% of the EEGs were abnormal. However, in patients with a history of predisposing conditions for epileptic seizures or encephalopathies, the tracing was abnormal in 47.5%. The most frequent alteration on the abnormal EEGs was generalized slowing (18.2%). The EEG was useful in 76.7% of patients: AEDs changed in 8.4% and clinical management changed in 76.2% of patients. The usefulness of EEGs associated with acute ischemic lesions on CT (p = 0.023) and with the diagnosis of vasovagal syncope (p = 0.022). CONCLUSIONS: Routine EEG is useful in the ED, even in patients with a normal CT or MR brain image, because it helps determine clinical management or AED changes.

A systematic review of common genetic variation and biological pathways in autism spectrum disorder.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction. Common genetic variation appears to play a key role in the development of this condition. In this systematic review, we describe the relationship between genetic variations and autism. We created a gene dataset of the genes involved in the pathogenesis of autism and performed an over-representation analysis to evaluate the biological functions and molecular pathways that may explain the associations between these variants and the development of ASD. RESULTS: 177 studies and a gene set composed of 139 were included in this qualitative systematic review. Enriched pathways in the over-representation analysis using the KEGG pathway database were mostly associated with neurotransmitter receptors and their subunits. Major over-represented biological processes were social behavior, vocalization behavior, learning and memory. The enriched cellular component of the proteins encoded by the genes identified in this systematic review were the postsynaptic membrane and the cell junction. CONCLUSIONS: Among the biological processes that were examined, genes involved in synaptic integrity, neurotransmitter metabolism, and cell adhesion molecules were significantly involved in the development of autism.

Maternal Nutrition and Neurodevelopment: A Scoping Review.

In this scoping review, we examined the association between maternal nutrition during pregnancy and neurodevelopment in offspring. We searched the Pubmed and ScienceDirect databases for articles published from 2000 to 2020 on inadequate intake of vitamins (B12, folate, vitamin D, vitamin A, vitamin E, vitamin K), micronutrients (cooper, iron, creatine, choline, zinc, iodine), macronutrients (fatty acids, proteins), high fat diets, ketogenic diets, hypercaloric diets, and maternal undernutrition. Some older relevant articles were included. The search produced a total of 3590 articles, and 84 studies were included in the qualitative synthesis. Data were extracted and analyzed using charts and the frequency of terms used. We concluded that inadequate nutrient intake during pregnancy was associated with brain defects (diminished cerebral volume, spina bifida, alteration of hypothalamic and hippocampal pathways), an increased risk of abnormal behavior, neuropsychiatric disorders (ASD, ADHD, schizophrenia, anxiety, depression), altered cognition, visual impairment, and motor deficits. Future studies should establish and quantify the benefits of maternal nutrition during pregnancy on neurodevelopment and recommend adequate supplementation.

Caligula: a neuropsychiatric explanation of his madness.

Gaius Julius Caesar Augustus Germanicus, better known as Caligula, (12 CE to 41 CE) was the third Roman emperor and ruled only four years. Throughout his life he experienced several traumatic events, and, in addition, historians mention some premorbid conditions that could cause him to become the monster that most historians know today. When Caligula was 25 years old, he suffered a near-fatal illness that turned his story around. One possible cause was lead poisoning due to the high consumption of wine, which contained lead, by Roman patricians. On the other hand, it is plausible that Caligula experienced epilepsy that began in childhood, later experienced status epilepticus in 37 CE, which triggered an epileptic psychosis with the consequent psychopathic and paranoid changes that led him to the madness noted by historians.

Caligula: a neuropsychiatric explanation of his madness / Calígula: una explicación neuropsiquiátrica de su locura

ABSTRACT Gaius Julius Caesar Augustus Germanicus, better known as Caligula, (12 CE to 41 CE) was the third Roman emperor and ruled only four years. Throughout his life he experienced several traumatic events, and, in addition, historians mention some premorbid conditions that could cause him to become the monster that most historians know today. When Caligula was 25 years old, he suffered a near-fatal illness that turned his story around. One possible cause was lead poisoning due to the high consumption of wine, which contained lead, by Roman patricians. On the other hand, it is plausible that Caligula experienced epilepsy that began in childhood, later experienced status epilepticus in 37 CE, which triggered an epileptic psychosis with the consequent psychopathic and paranoid changes that led him to the madness noted by historians.

RESUMEN Gaius Julius Caesar Augustus Germanicus, mejor conocido como Calígula, (12 C.E. - 41 C.E.), fue el tercer emperador romano y gobernó durante apenas cuatro años. A lo largo de su vida, experimentó diferentes eventos traumáticos y, adicionalmente, algunos historiadores mencionan condiciones premórbidas que pudieron causar que se convirtiera en el monstruo que los historiadores conocen hoy. Cuando Calígula tenía 25 años, sufrió una enfermedad casi fatal que le dio un giro considerable a su historia. Una posible causa es intoxicación por plomo, debido al excesivo consumo de vino, el cual contenía considerables niveles de este metal. Por otro lado, es posible que Calígula cursara con crisis epilépticas de inicio en la infancia. Posteriormente, en el año 37 C.E. experimentara un estado epiléptico, el cual desencadenaría una psicosis epiléptica, dejando secuelas que iban a desencadenar la locura de la que muchos historiadores hablan.

Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage.

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare autosomal dominant disorder with an unknown prevalence. Characteristics of this disease include cutaneous, neurologic, and cardiologic abnormalities. In this case report, we present a 12-year-old girl who was admitted to the emergency department for acute-onset left weakness, unsteady gait, nausea, and vomiting. Her physical exam notably showed left side upper motor neuron signs and dysmetria. CT scan revealed an acute hemorrhage of the right thalamus. Physical exam exhibited several craniofacial dysmorphisms and lentigines. The genetic test revealed a heterozygous missense mutation in the protein tyrosine phosphatase non-receptor type 11 (PTPN11) gene and a variant of unknown significance of the MYH11 gene. To the best of our knowledge, this is the first case of a patient with NSML presenting an intracerebral hemorrhage.

Executive function in down syndrome children in Bogotá, Colombia.

The study aim was to characterize executive function in 114 children with Down syndrome from a reference institution in Bogotá, Colombia. Children were screened with the Battelle Developmental Inventory to establish their developmental age. Eighty children with an equivalent mental age of 2-5.11 years were allocated to groups of 20 according to their mental age. Parents and teachers then completed the Behavior Rating Inventory of Executive Function-Preschool Version. We found a high variability and a low correlation between parent and teacher ratings. In general, children showed a specific profile characterized by weakness in the domains of working memory, shifting, planning, and organization, and strengths in the emotional control domain. These findings indicate a characteristic pattern of executive function in children with Down syndrome. This profile could form the basis for the planning of clinical assessment programs.

Spatial analysis of service areas for stroke centers in a city with high traffic congestion.

The effect that traffic congestion has on the service areas of stroke centers has received scarce attention. We aimed to determine the effect of traffic conditions on the characteristics of service areas of stroke centers in Bogotá, Colombia. Using a webservice, we sampled travel times from a set of census blocks to medical centers offering stroke management in the city. We obtained 179.340 transport times under different conditions. The size of service areas was reduced significantly with congestion (up to 94.83%). Overlap in the locations of centers led to large areas covered by only five centers. We identified areas with transport times to the closest center consistently exceeding 30-minutes to 1-hour in the west and south-west. Traffic conditions in Bogotá significantly affect service areas of centers capable of offering comprehensive stroke care. Spatial overlap of centers led to small catchment areas.

Cannabinoid Effects on Experimental Colorectal Cancer Models Reduce Aberrant Crypt Foci (ACF) and Tumor Volume: A Systematic Review.

OBJECTIVE: Colorectal cancer represents a heavy burden for health systems worldwide, being the third most common cancer worldwide. Despite the breakthroughs in medicine, current chemotherapeutic options continue to have important side effects and may not be effective in preventing disease progression. Cannabinoids might be substances with possible therapeutic potential for cancer because they can attenuate the side effects of chemotherapy and have antiproliferative and antimetastatic effects. We aim to determine, through a systematic review of experimental studies performed on animal CRC models, if cannabinoids can reduce the formation of preneoplastic lesions (aberrant crypt foci), number, and volume of neoplastic lesions. MATERIALS AND METHODS: A systematic, qualitative review of the literature was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PubMed, Embase, and Scopus databases were searched. We use the following Medical Subject Headings (MESH) terms in PubMed: "colorectal neoplasms," "colonic neoplasms," "colorectal cancer," "polyps," "rimonabant," "cannabidiol," "cannabinoids," "azoxymethane," "xenograft," and "mice." Only studies that met the eligibility criteria were included. RESULTS: Eight in vivo experimental studies were included in the analysis after the full-text evaluation. Seven studies were azoxymethane (AOM) colorectal cancer models, and four studies were xenograft models. Cannabidiol botanical substance (CBD BS) and rimonabant achieved high aberrant crypt foci (ACF) reduction (86% and 75.4%, respectively). Cannabigerol, O-1602, and URB-602 demonstrated a high capacity for tumor volume reduction. Induction of apoptosis, interaction with cell survival, growth pathways, and angiogenesis inhibition were the mechanisms extracted from the studies that explain cannabinoids' actions on CRC. CONCLUSIONS: Cannabinoids have incredible potential as antineoplastic agents as experimental models demonstrate that they can reduce tumor volume and ACF formation. It is crucial to conduct more experimental studies to understand the pharmacology of cannabinoids in CRC better.

Neuroibromatosis tipo l: relación genotipo-fenotipo / Type 1 neurofibromatosis: genotype-phenotype relationship

RESUMEN INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas. El objetivo es describir actualmente si existe o no relación entre las mutaciones encontradas en los pacientes con neurofibromatosis tipo 1 y las características clínicas que presentan. MÉTODOS: Se realizó un artículo de revisión narrativa para evaluar la relación con el genotipo y fenotipo de los pacientes con neurofibromatosis tipo 1. Se revisaron las bases de datos PubMed, Embase y Lilacs. Se utilizaron los siguientes términos Mesh: Neurofibromatosis, neurofibromatosis tipo 1, genes, genotipo, fenotipo, mutaciones, secuenciación de exoma. Los estudios identificados fueron revisados y analizados. Se presentan los datos de manera cualitativa. RESULTADOS: De 425 artículos, 62 contenían la información necesaria para hacer el análisis. A pesar de que algunos estudios han presentado evidencia de asociación en relación a las mutaciones encontradas y la clínica, realmente no existe una correlación genotipo-fenotipo comprobada en neurofibromatosis tipo 1. Esto sugiere que para los fenotipos discordantes con genotipo similar existen otros factores que deben considerarse tales como la epigenética, alteraciones genéticas o incluso factores ambientales. CONCLUSIONES: Es necesario realizar estudios con cohortes más grande de pacientes para seguir estudiando si existe una relación directa o no.

SUMMARY INTRODUCTION: Neurofibromatosis (von Recklinghausen disease) is an autosomal dominant disease that mainly presents cutaneous and neurological manifestations. The objective is to describe if there is a relationship between the mutations found in patients with neurofibromatosis type 1 and the clinical characteristics they present. METHODS: A narrative review of the literature was carried out in relation to the genotype and phenotype of patients with Neurofibromatosis type 1 using PubMed, Embase, and Lilacs. The following Mesh terms were used: Neurofibromatosis, neurofibromatosis type 1, genes, genotype, phenotype, mutations, exome sequencing. The identified studies were reviewed and analyzed. Data are presented qualitatively RESULTS: Of 425 articles, 62 contained the information necessary to make the analysis. Although some studies have presented evidence of association in relation to the mutations found and the clinical one, there is still no proven genotype-phenotype correlation in neurofibromatosis type 1. This suggests that, for discordant phenotypes with a similar genotype, there are other factors that must be considered such as epigenetics, genetic alterations or even environmental factors. CONCLUSIONS: It is necessary to perform studies with larger cohort of patients to continue studying whether there is a direct relationship or not.

Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy.

BACKGROUND: Epilepsy is a serious health problem worldwide. Despite the introduction of new antiepileptic drugs (AEDs) almost 30% of these patients have drug-resistant forms of the disease (DRE), with a significant increase in morbi-mortality. OBJECTIVE: Our objective was to assess the impact of some genetic factors and its possible association with treatment response and adverse drug reactions (ADRs) to phenytoin in 67 adult Colombian patients with epilepsy. METHODS: We conducted an analytical, observational, prospective cohort study to screen four polymorphisms in pharmacogenes: CYP2C9*2-c.430C>T (rs1799853), CYP2C9*3-c.1075A>C (rs1057910), ABCB1-c.3435T>C (rs1045642), and SCN1A-IVS5-91G>A (rs3812718), and their association with treatment response. Patients were followed for 1 year to confirm the existence of DRE (non-response) and ADRs using an active pharmacovigilance approach, followed by a consensus in order to classify ADRs according to causality, preventability, intensity and their relation with phenytoin dose, the duration of treatment, and susceptibility factors (DoTS methodology). RESULTS: A little more than half of evaluated subjects (52.2%) were non-responding to phenytoin. Regarding the genotype-phenotype correlation there was no association between polymorphisms of SCN1A and ABCB1 and DRE (non-response) (p = 0.34), and neither with CYP2C9 polymorphisms and the occurrence of ADRs (p = 0.42). We only found an association between polymorphic alleles of CYP2C9 and vestibular-cerebellar ADRs (dizziness, ataxia, diplopia, and dysarthria) (p = 0.001). Alleles CYP2C9*2-c.430C>T and CYP2C9*3-c.1075A>C were identified as susceptibility factors to ADRs in 24% of patients. CONCLUSIONS: Decreased function alleles of CYP2C9 were highly predictive of vestibular-cerebellar ADRs to phenytoin in our study (p = 0.001). However, the genetic variants CYP2C9*2-c.430C>T, CYP2C9*3-c.1075A>C, ABCB1-c.3435T>C, and SCN1A-IVS5-91G>A, were not associated with treatment response in our study.

Assessment of nutrition and learning skills in children aged 5-11 years old from two elementary schools in Chocó, Colombia.

BACKGROUND: Malnutrition has been identified as a factor in growth and learning. The current study aimed to determine the nutritional status and basic learning skills of children from Chocó, Colombia. METHODS: We conducted a cross-sectional study of 631 children aged 5-11 years from two schools, collecting anthropometric measurements, nutritional quality surveys and sociodemographic data. Neuropsychological batteries were applied. RESULTS: A total of 523 children were evaluated, with an average age of 8.49 ± 2.1 years. The results revealed that 2.9% of children were underweight, 0.4% were severely underweight, and 4.8% were diagnosed as having stunted growth. In addition, 71.8% of children were unable to draw a human figure. Beery-Buktenica Visual-Motor Integration test (VMI) performance was below the scores expected for these age groups in 73.9% of children. Battery of Differential and General Abilities (BADYG) performance revealed limited verbal skills. In a subsample of 117 children, anemia was detected in 12.8% of cases, and iron deficiency was present in 44.4% of cases. Global malnutrition was associated with impairments in BADYG performance (OR: 1.98; 95% CI: 1.07-3.86). CONCLUSIONS: The current results revealed that learning performance was below the expected level for children in these age groups across all of the applied tests. Although malnutrition could partially explain the poor performance of children in tests of learning abilities, additional factors are likely to be involved.

Prevalencia de hipoacusia en una población escolar con síndrome de Down de Bogotá, Colombia / Prevalence of hearing loss in a population of schoolchildren with Down syndrome from Bogotá, Colombia

Introducción: Los niños con síndrome de Down presentan mayor prevalencia de alteraciones de la capacidad auditiva, secundaria a variaciones anatómicas y fisiológicas. En Colombia, no se realiza tamizaje auditivo universal, y no hay datos sobre la prevalencia de hipoacusia en esta población. El propósito de este estudio fue determinar la frecuencia y tipo de estas alteraciones en nuestra población por medio de evaluación audiológica.Pacientes y métodos: Se realizó un estudio de corte trasversal en dos instituciones especializadas en el acompañamiento y terapia de familias de niños con síndrome de Down en Bogotá D. C., Colombia. Entre octubre de 2017 y septiembre de 2018, se realizó audiometría comportamental y/o tonal e impedanciometría en 40 y en 37 niños respectivamente. Los sujetos asistían a las instituciones dos veces por semana y estaban integrados en diferentes grados escolares hasta quinto de primaria. Se estimó la prevalencia y se describieron las características, antecedentes clínicos e hitos del desarrollo del lenguaje. Resultados: Se obtuvo una muestra de 40 niños (22 mujeres) con edades entre 6 y 18 años (media: 11,23). Se encontró antecedente de otitis en 19 sujetos e hipoacusia de leve a moderada en 17 niños, predominantemente, conductiva. Hubo retraso en hitos del desarrollo del lenguaje, en apariencia, no asociado a hipoacusia.Conclusiones: En una muestra de niños con síndrome de Down en Bogotá, se encontró una alta prevalencia de hipoacusia, consistente con resultados de estudios previos. Estos datos resaltan la necesidad de un control estricto de la capacidad auditiva basado en parámetros y guías estandarizadas.

Introduction: Children with Down syndrome have a higher prevalence of hearing disorders, secondary to anatomical and physiological variations. No universal hearing screening is implemented in Colombia, so there are no data available on the prevalence of hearing loss in this population. The objective of this study was to determine the frequency and type of such disorders in this population based on hearing tests.Patients and methods: This was a cross-sectional study conducted at two institutions specialized in accompanying and supporting the families of children with Down syndrome in Bogotá, D.C., Colombia. Between October 2017 and September 2018, a behavioral and/or pure-tone audiometry and an impedance audiometry were done in 40 and 37 children respectively. Subjects attended the institutions twice a week and were integrated at school, up to fifth grade. Prevalence was estimated and characteristics, clinical history, and language developmental milestones were described.Results: The sample was made up of 40 children (22 girls) aged 6-18 years (mean: 11.23). A history of otitis was found in 19 children and of mild to moderate hearing loss, in 17, predominately conductive. A delay in language developmental milestones was observed, apparently not associated with hearing loss. Conclusions: A sample of children with Down syndrome from Bogotá showed a high prevalence of hearing loss, consistent with the results of previous studies. These data stress the need for a strict control of hearing status based on standardized parameters and guidelines.

Prevalence of hearing loss in a population of schoolchildren with Down syndrome from Bogotá, Colombia. / Prevalencia de hipoacusia en una población escolar con síndrome de Down de Bogotá, Colombia.

INTRODUCTION: Children with Down syndrome have a higher prevalence of hearing disorders, secondary to anatomical and physiological variations. No universal hearing screening is implemented in Colombia, so there are no data available on the prevalence of hearing loss in this population. The objective of this study was to determine the frequency and type of such disorders in this population based on hearing tests. PATIENTS AND METHODS: This was a cross-sectional study conducted at two institutions specialized in accompanying and supporting the families of children with Down syndrome in Bogotá, D.C., Colombia. Between October 2017 and September 2018, a behavioral and/or pure-tone audiometry and an impedance audiometry were done in 40 and 37 children respectively. Subjects attended the institutions twice a week and were integrated at school, up to fifth grade. Prevalence was estimated and characteristics, clinical history, and language developmental milestones were described. RESULTS: The sample was made up of 40 children (22 girls) aged 6-18 years (mean: 11.23). A history of otitis was found in 19 children and of mild to moderate hearing loss, in 17, predominately conductive. A delay in language developmental milestones was observed, apparently not associated with hearing loss. CONCLUSIONS: A sample of children with Down syndrome from Bogotá showed a high prevalence of hearing loss, consistent with the results of previous studies. These data stress the need for a strict control of hearing status based on standardized parameters and guidelines.

Introducción: Los niños con síndrome de Down presentan mayor prevalencia de alteraciones de la capacidad auditiva, secundaria a variaciones anatómicas y fisiológicas. En Colombia, no se realiza tamizaje auditivo universal, y no hay datos sobre la prevalencia de hipoacusia en esta población. El propósito de este estudio fue determinar la frecuencia y tipo de estas alteraciones en nuestra población por medio de evaluación audiológica. Pacientes y métodos: Se realizó un estudio de corte trasversal en dos instituciones especializadas en el acompañamiento y terapia de familias de niños con síndrome de Down en Bogotá D. C., Colombia. Entre octubre de 2017 y septiembre de 2018, se realizó audiometría comportamental y/o tonal e impedanciometría en 40 y en 37 niños respectivamente. Los sujetos asistían a las instituciones dos veces por semana y estaban integrados en diferentes grados escolares hasta quinto de primaria. Se estimó la prevalencia y se describieron las características, antecedentes clínicos e hitos del desarrollo del lenguaje. Resultados: Se obtuvo una muestra de 40 niños (22 mujeres) con edades entre 6 y 18 años (media: 11,23). Se encontró antecedente de otitis en 19 sujetos e hipoacusia de leve a moderada en 17 niños, predominantemente, conductiva. Hubo retraso en hitos del desarrollo del lenguaje, en apariencia, no asociado a hipoacusia. Conclusiones: En una muestra de niños con síndrome de Down en Bogotá, se encontró una alta prevalencia de hipoacusia, consistente con resultados de estudios previos. Estos datos resaltan la necesidad de un control estricto de la capacidad auditiva basado en parámetros y guías estandarizadas.

Trastornos psiquiátricos secundarios a enfermedades neurometabólicas / Psychiatric Disorders Secondary to Neurometabolic Disorders

Hay algunas enfermedades secundarias a errores innatos del metabolismo que se asocian a trastornos psiquiátricos o síntomas neurológicos menores. La existencia de algunos pacientes con signos únicamente psiquiátricos representa un desafío diagnóstico y terapéutico. El objetivo del presente artículo es describir 6 enfermedades neurometabólicas tratables que se presentan con síntomas psiquiátricos que camuflan su origen orgánico, con el propósito de que se las tome en cuenta en la consulta psiquiátrica. Se describen los trastornos del metabolismo de la homocisteína y del ciclo de la urea, la enfermedad de Wilson, la enfermedad de Niemann-Pick tipo C, la porfiria aguda y la xantomatosis cerebrotendinosa. El análisis de la literatura lleva a proponer una lista de síntomas psiquiátricos asociados con dichas afecciones, que abarcan desde los cambios insidiosos del afecto y el curso del pensamiento hasta síntomas atípicos, como alucinaciones visuales, efectos paradójicos de los medicamentos antipsicóticos y trastornos del comportamiento de niños y adolescentes que conllevan degradación de la autonomía. Asimismo se listan los signos neurológicos más frecuentemente relacionados, como las alteraciones del estado de conciencia, los trastornos de la conducta motora y el equilibro, la catatonia o el déficit cognitivo progresivo. Se hace hincapié en la importancia de considerar la resistencia al tratamiento antipsicótico como una señal importante para sospechar organicidad y la mejoría significativa de la alteración psiquiátrica cuando se instaura un tratamiento eficaz y precoz.

Some diseases secondary to inborn errors of metabolism are associated with psychiatric, disorders or minor neurological symptoms. The existence of some cases with exclusively psychiatric symptoms represents a diagnostic and therapeutic challenge. The aim of this article is to describe seven treatable neurometabolic disorders that should be taken into account in the psychiatric consultation as they manifest with psychiatric symptoms that mask the organic origin of the disorder. Homocysteine metabolism and urea cycle disorders, Wilson's disease, Niemann-Pick disease Type C, acute porphyria and cerebrotendinous xanthomatosis are described. Following an analysis of the literature, a list of psychiatric symptoms associated with these disorders are proposed, ranging from insidious changes in affective state and thought to atypical symptoms such as visual hallucinations, as well as paradoxical effects of antipsychotics or behavioural disorders in children and adolescents associated with loss of autonomy. The most frequently associated neurological signs, such as alterations in the state of consciousness, motor behaviour and balance disorders, catatonia or progressive cognitive deficit are also listed. Emphasis is placed on the importance of considering resistance to antipsychotic treatment as a warning sign to suspect organicity, as well as the significant improvement in psychiatric impairment when effective and early treatment is established.