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.
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.
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
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