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.

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.

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.

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.

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.

Síndrome de Alicia en el país de las maravillas (AIWS). Reflexión / Alice in Wonderland Syndrome (AIWS). A reflection

Abstract The Alice in Wonderland syndrome is a rare clinical neurological condition, defined by the presence of perception disorders usually interpreted by the affected patient as rare metamorphosing and depersonalization phenomena. Due to its extremely rare occurrence and its surreal and sometimes psychedelic character, the syndrome has been associated with the phenomena experienced by Alice, the character in the classic and world-famous story by Lewis Carroll.

Resumen El Síndrome de Alicia en el País de las Maravillas es una condición clínica neurológica de rara aparición, definida por la aparición de alteraciones en la percepción usualmente interpretadas por el paciente que las experimenta, como fenómenos extraños de metamorfosis y despersonalización. Por su naturaleza altamente inusual y su carácter surreal e incluso en ocasiones psicodélico, se ha relacionado al cuadro con los fenómenos experimentados por el personaje de Alicia, en la clásica y mundialmente reconocida historia de Lewis Carroll.