Ophthalmic manifestations in children with Down Syndrome in Bogotá, Colombia.

BACKGROUND: To describe the ocular features of a cohort of children with Down Syndrome (DS) in Bogotá, Colombia. METHODS: We performed a cross-sectional study, evaluating 67 children with DS. A pediatric ophthalmologist performed a complete optometric and ophthalmological evaluation of each child, including visual acuity, ocular alignment, external eye examination, biomicroscopy, auto-refractometry, retinoscope in cycloplegia, and fundus examination. Results were reported as frequency distribution tables with percentages for categorical variables and means and standard deviation or median and interquartile ranges for continuous variables, according to their distribution. We used the Chi-square test or Fisher's exact test for categorical variables and ANOVA or Kruskal-Wallis for continuous variables when indicated. RESULTS: A total of 134 eyes from 67 children were evaluated. Males represented 50.7%. The children's age ranged from 8-16 years, with a mean of 12.3 (SD 2.30). The most frequent refractive diagnosis per eye was hyperopia (47%), followed by myopia (32.1%) and mixed astigmatism (18.7%). The most frequent ocular manifestations were oblique fissure (89.6%), followed by amblyopia (54.5%) and lens opacity (39.4%). Female sex was associated with strabismus (P = 0.009) and amblyopia (P = 0.048). CONCLUSION: Our cohort had a high prevalence of disregarded ophthalmological manifestations. Some of these manifestations, such as amblyopia, can be irreversible and severely affect the neurodevelopment of DS children. Therefore, ophthalmologists and optometrists should be aware of the visual and ocular affection of children with DS to assess and provide appropriate management. This awareness could improve rehabilitation outcomes for these children.

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.

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.

Ophthalmic Manifestations of Monkeypox Virus Infection: A Cases Series.

This retrospective case series aims to describe the ophthalmic manifestations of the Monkeypox virus infection in seven patients evaluated in two countries of South America (Colombia and Brazil). Two had skin lesions in the eyelid, and five had conjunctivitis. None had intraocular involvement. Three of seven patients had a history of Human Immunodeficiency Virus infection, and all patients had lesions in the genital region, suggesting sexual-contact transmission. In 6 of 7 cases, conjunctival RT-PCR was positive for the Monkeypox virus, including one case without conjunctival vesicles. In all cases, lesions resolved without complications, and just two required antiviral treatment. All patients demonstrated improvement without complications. RT-PCR positivity in conjunctiva demonstrated the presence of the Monkeypox virus, suggesting that ocular-mediated transmission could be plausible. Ophthalmologists should be aware of this ophthalmic manifestation.

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.

Effects of music training in executive function performance in children: A systematic review.

Music training has traditionally been a fundamental component of children's education across several cultures. Moreover, music training has been hypothesized to enhance the development of executive functions and improve executive performance in children. In this systematic review, we analyze the available evidence of the effects of music training on executive function performance, evaluated using validated neuropsychologic batteries and classic tasks. To achieve this objective, we performed a systematic search in three databases (PubMed, Ovid MEDLINE, and Scopus) and selected case-control or intervention studies conducted on children with neurotypical development. We analyzed 29 studies that met the inclusion criteria and observed significant heterogeneity among the music interventions and methods for assessing executive functions. The review of the available literature suggests a beneficial effect of music training in core executive function performance, primarily in inhibitory control, and to a lesser extent, in working memory and cognitive flexibility.

Of love and other demons: depicting human rabies in Colombia.

Human rabies has been described by various cultures in many countries around the world. Gabriel García Márquez's novel Of love and other demons recounts the story of a girl who, in colonial Colombia in the 18th century, was bitten by a rabid dog. This paper aims to review the general status of the disease in Colombia and interweave it with García Márquez's book. Developed countries have successfully controlled dog-mediated rabies virus transmission, whereas in some countries in Latin America wildlife and canine rabies are still an issue. Our approach suggests that although the measures that have been taken to mitigate dog-transmitted rabies have worked well in most parts of the world, greater efforts are required to control sylvatic rabies transmitted by bats or other mammals, as occurs in Colombia. Since developing countries are the most affected by the disease at present, transdisciplinary commitment between human and veterinary sectors is necessary to fight against rabies virus transmission.

Prevalence of ophthalmological manifestations in pediatric and adolescent populations with Down syndrome: a systematic review of the literature.

BACKGROUND: Down syndrome (DS) is a chromosomal anomaly that is characterized by an extra chromosome 21. Ophthalmological manifestations have a high prevalence in patients with DS. PURPOSE: To review the scientific evidence and estimate the prevalence of ophthalmological manifestations in the pediatric population with DS. DATA SOURCES: Electronic databases including MEDLINE, Cochrane Library, EMBASE, ScienceDirect, and LILACS. STUDY ELIGIBILITY CRITERIA: Published observational studies with available and original data were included. Articles were excluded if the study design was a review, letter to the editor, case report, case series, or systematic review and if the subjects had ophthalmological manifestations secondary to other conditions. PARTICIPANTS AND INTERVENTIONS: Pediatric and adolescent population with DS and with ophthalmological evaluation. STUDY APPRAISAL AND SYNTHESIS METHODS: A data collection form was designed in Excel. Five reviewers extracted relevant details about the design and results of each study. The quality of the studies was assessed by applying the tools for systematic reviews of prevalence and incidence from the Joanna Briggs Institute. We calculated the weighted prevalence of ophthalmological manifestations, considering only the studies reporting the measurement of each manifestation. RESULTS: Twenty-two articles (from 15 countries, published during 1994-2020) were included in the present systematic review. Ocular manifestations were observed in 85% of the studied pediatric and adolescent populations with DS. The most frequent ones were slanting fissures, oblique fissures, epicanthus, and epiblepharon. CONCLUSION: The ocular manifestations in the pediatric and adolescent populations with DS are varied, and some can irreversibly affect visual development. Screening of the pediatric population with DS should be conducted from the first months of age and continued annually. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42019127717.

Effects of remote learning during the COVID-19 lockdown on children's visual health: a systematic review.

OBJECTIVES: Increased exposure to digital devices as part of online classes increases susceptibility to visual impairments, particularly among school students taught using e-learning strategies. This study aimed to identify the impact of remote learning during the COVID-19 lockdown on children's visual health. DESIGN: Systematic review using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. DATA SOURCES: Scopus, PubMed and ScienceDirect databases from the year 2020 onwards. ELIGIBILITY CRITERIA: We included cross-sectional, case-control, cohort studies, case series and case reports, published in English, Spanish or French, that approached the effects of remote learning during the COVID-19 lockdown on visual health in neurotypical children. DATA EXTRACTION AND SYNTHESIS: We included a total of 21 articles with previous quality assessments using the Joanna Briggs checklist. Risk of bias assessment was applied using the National Institutes of Health quality assessment tool for before-and-after studies with no control group; the tool developed by Hoy et al to assess cross-sectional studies; the Murad et al tool to evaluate the methodological quality of case reports and case series; and the Newcastle-Ottawa Scale for cohort studies. RESULTS: All but one study reported a deleterious impact of the COVID-19 lockdown on visual health in children. Overall, the most frequently identified ocular effects were refractive errors, accommodation disturbances and visual symptoms such as dry eye and asthenopia. CONCLUSIONS: Increased dependence on digital devices for online classes has either induced or exacerbated visual disturbances, such as rapid progression of myopia, dry eye and visual fatigue symptoms, and vergence and accommodation disturbances, in children who engaged in remote learning during the COVID-19 lockdown. PROSPERO REGISTRATION NUMBER: CRD42022307107.

Validation study of human figure drawing test in a Colombian school children population.

The aim of this article was to assess the validity of the emotional and developmental components of the Koppitz human figure drawing test. 2420 children's drawings available in a database resulting from a previous cross sectional study designed to determine the prevalence of neurological diseases in children between 0 and 12 years old in Bogota schools were evaluated. They were scored using the criteria proposed by Koppitz, and classified into 16 groups according to age, gender, and presence/absence of learning or attention problems. The overall results were then compared with the normative study to assess whether descriptive parameters of the two populations were significantly different. There were no significant differences associated with presence/absence of learning and attention disorders or school attended within the overall sample. An Interrater reliability test has been made to assure the homogeneity of scoring by the evaluator team. There were significant differences between this population and that of the original study. New scoring tables contextualized for our population based on the frequency of appearance in this sample are presented. We can conclude that various ethnic, social, and cultural factors can influence the way children draw the human figure. It is thus important to establish local reference values to adequately distinguish between normality and abnormality. The new scoring tables proposed here should be followed up with a clinical study to corroborate their validity.

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.

The Insomnia Plague in Fictional Macondo.

Disease and medicine are found throughout Gabriel García Márquez's work. This article examines the insomnia plague described in the novel One Hundred Years of Solitude and performs a differential diagnosis exercise with conditions that affect both sleep and memory. The main finding is that the insomnia plague narrated by García Márquez, with its clinical manifestations, the sequence of symptoms, and its resolution, cannot be associated with any specific diagnosis. However, similarities to and differences from several clinical conditions are discussed, as well as the relation between the neurophysiologic phenomena of sleep and memory.

Congenital amusia and academic performance among Colombian university students.

BACKGROUND: Congenital amusia is a rare neurogenetic and neuropsychological condition which hinders the ability to recognize variations in all aspects of a musical piece. Although previous studies have determined the prevalence of congenital amusia in the general population, few have studied its presence among university students. Findings regarding the association between this condition and academic performance are equivocal, although evidence suggests that musical training improves scholastic achievement. METHODS: We conducted a cross-sectional study on a sample of 383 university students, all pursuing health-related degrees, comparing their class rank with their performance on the BRAMS Online Test for amusia. RESULTS: We found a prevalence of 0.52% for pitch-based amusia. When applying the Off-Scale test failure criterion for the definition of amusia in our sample, we found a prevalence of 4.4%. Logistic models showed an increase in risk of poor academic performance (lowest quartile) in subjects who failed the off-scale test (Odds Ratio: 7.14 95% CI 2.59-19.6) and who met any of the described definitions of amusia (Odds Ratio: 4.89 95% CI 2.24-10.7). CONCLUSIONS: Both musical training and self-report of musical ability significantly affected test results. Although musical education shows some effect over academic performance, further studies are required to determine if this is due to differential effects in subjects with and without amusia.

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.

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.

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.

Delayed auditory pathway maturation in the differential diagnosis of hypoacusis in young children.

Auditory deficiencies have profound implications for the development of communication abilities, social exchange, and cognitive skills. Although advances in technological instrumentation have decreased the age at which it is possible to detect auditory deficits, an absence of electrophysiological or behavioral reaction to sound does not always reflect hypoacusis. The objective of this study was to evaluate the evolution of audition in a group of children referred for therapy to the CINDA Foundation (Center for Research and Information in Auditory Deficiencies) in Bogota, Colombia, with an initial diagnosis of severe to profound sensorineural hearing loss. We evaluated 25 patients younger than 2.5 years of age with a protocol which included auditory evoked potentials, behavioral responses (tonal audiometry-responses to voice and startle) and language observation. After evaluation, the children began a program of auditory stimulation with audiological follow-up for a period of 6 months to 1 year. The audiological follow-up of the children after auditory stimulation showed significant improvements in both electrophysiological and behavioral indices of their hearing levels (p<.001, one-tailed Wilcoxon exact test). We found a high percentage of children in early stages of auditory maturation with a false diagnosis of hypoacusis (32%). The absence of response may result from compromised auditory reception or processing. Thus, delayed maturation of the auditory pathway should be considered in the differential diagnosis of young children with sensorineural hearing loss.

Effectiveness of Animal-Assisted Therapy in the Pediatric Population: Systematic Review and Meta-Analysis of Controlled Studies.

OBJECTIVE: To synthesize the results of controlled studies evaluating the effectiveness of animal-assisted therapy (AAT) in children. METHODS: Eleven databases were searched following the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement recommendations, and references from included studies and previous reviews were examined. No date or language filters were applied. Only controlled study designs, including those using wait-list controls, that studied a specific condition or illness were included. Study quality was assessed using the Cochrane Risk of Bias Tool. RESULTS: Twenty-six studies that met the inclusion criteria were retrieved. Nine were conducted in children with autism spectrum disorders, 10 in cerebral palsy (CP), 2 in Down syndrome, 3 in pain, and 2 in other conditions. Qualitative synthesis showed a small but significant contribution of AAT to the management of these conditions. Meta-analysis showed a mean difference in improvement in the Gross Motor Function Measure-66 scale in children with CP of 1.61 (95% confidence interval [CI] -2.00 to 5.23) and a mean difference for 5-point pain scales of -0.81 (95% CI -1.32 to 0.30), both favoring AAT. CONCLUSION: Animal-assisted therapy may be useful as a complementary intervention in the management of children with CP and pain. Although results are in general positive for the management of children with Down syndrome and autism, the diversity of scales used to measure outcomes makes it difficult to establish true effectiveness. The application of simple corrective measures in the randomization process would greatly improve the quality of evidence. It is necessary to reach a consensus between AAT researchers regarding appropriate instruments to provide higher-quality evidence in further studies.

Animal-assisted therapy in adults: A systematic review.

Animal-assisted therapies have become widespread with programs targeting a variety of pathologies and populations. Despite its popularity, it is unclear if this therapy is useful. The aim of this systematic review is to establish the efficacy of Animal assisted therapies in the management of dementia, depression and other conditions in adult population. A search was conducted in MEDLINE, EMBASE, CINAHL, LILACS, ScienceDirect, and Taylor and Francis, OpenGrey, GreyLiteratureReport, ProQuest, and DIALNET. No language or study type filters were applied. Conditions studied included depression, dementia, multiple sclerosis, PTSD, stroke, spinal cord injury, and schizophrenia. Only articles published after the year 2000 using therapies with significant animal involvement were included. 23 articles and dissertations met inclusion criteria. Overall quality was low. The degree of animal interaction significantly influenced outcomes. Results are generally favorable, but more thorough and standardized research should be done to strengthen the existing evidence.

The Sound of Jacqueline du Pré: Revisiting her Medical and Musical History.

Jacqueline du Pré was a British cellist, famous for her masterful interpretations and her passionate style of playing. Her outstanding musical career was, unfortunately, cut short by multiple sclerosis. In the present paper, we conduct a historical and medical analysis of her life story, discussing a few aspects regarding her illness and treatment options available at the time of her diagnosis.