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Cureus Mar 2022Moyamoya disease is defined as stenosis of the internal carotid artery or the middle, anterior or posterior cerebral arteries with considerable collateral development.... (Review)
Review
Moyamoya disease is defined as stenosis of the internal carotid artery or the middle, anterior or posterior cerebral arteries with considerable collateral development. This collateral vessel has a particular appearance in angiographic examinations. Moyamoya syndrome is a term used to describe when moyamoya disease occurs in conjunction with other systemic disorders. One of the associations is Down syndrome. Moyamoya syndrome is very common in patients with Down syndrome, and the cause for this is unknown. The majority of patients present in their first decade, with the clinical presentation varying with age. The cause of moyamoya syndrome in people with trisomy 21 is unknown. This research aimed to learn more about the genesis and pathology of moyamoya syndrome in people with Down syndrome. The Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) guidelines were used to conduct this systematic review. Several publications connected to this topic were searched through a comprehensive database search. They were narrowed down to a final number of ten articles after applying inclusion and exclusion criteria and analyzing the quality of each work. Several possibilities were presented in these final papers to explain the link between moyamoya syndrome and trisomy 21. Trisomy 21 patients have a genetic predisposition to vascular problems. The RNF213 gene may interact with the genes on chromosome 21 that influence vascular physiology and elasticity in patients with Down syndrome, resulting in the whole picture of moyamoya syndrome.
PubMed: 35494994
DOI: 10.7759/cureus.23502 -
Systematic Reviews Apr 2022Down syndrome (DS) is a chromosomal anomaly that is characterized by an extra chromosome 21. Ophthalmological manifestations have a high prevalence in patients with DS.
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.
Topics: Adolescent; Child; Down Syndrome; Humans; Incidence; Prevalence
PubMed: 35459223
DOI: 10.1186/s13643-022-01940-5 -
Arquivos de Neuro-psiquiatria Apr 2022Sleep disorders are commonly observed in children with Down syndrome (DS) and can lead to significant behavioral and cognitive morbidities in these individuals.
BACKGROUND
Sleep disorders are commonly observed in children with Down syndrome (DS) and can lead to significant behavioral and cognitive morbidities in these individuals.
OBJECTIVE
To perform a systematic review evaluating sleep disorders in individuals with DS.
METHODS
Search strategies were based on combinations of keywords: "Down syndrome"; "trisomy 21"; "sleep disorders"; "dyssomnias"; "sleep apnea"; "obstructive"; "sleeplessness"; "insomnia"; "parasomnias"; and "excessive daytime sleepiness". PubMed and Science Direct were used. Only original studies and retrospective reviews in English published between January 2011 and March 2021 were included.
RESULTS
52 articles were included, most of them involving children and adolescents under 18 years of age. The main sleep disorder associated with DS was obstructive sleep apnea (OSA). Some studies reported the presence of cognitive dysfunction in patients with DS and sleep-disordered breathing, and few have been found about parasomnia, insomnia, and daytime sleepiness in these patients. Movement disorders and unusual postures during sleep may be related to disordered sleep breathing in DS. The main treatment options for OSA are continuous positive airway pressure therapy (CPAP), surgery, and weight control. Computational modeling associated with MRI has been used to plan surgical interventions in these patients.
CONCLUSIONS
Individuals with DS are at high risk of developing sleep-related breathing disorders. The main sleep disorder associated with DS was OSA. The presence of sleep-disordered breathing contributes to a worsening of cognitive function in patients with DS.
Topics: Adolescent; Child; Disorders of Excessive Somnolence; Down Syndrome; Humans; Retrospective Studies; Sleep Apnea Syndromes; Sleep Apnea, Obstructive; Sleep Initiation and Maintenance Disorders; Sleep Wake Disorders
PubMed: 35293557
DOI: 10.1590/0004-282X-ANP-2021-0242 -
International Journal of Environmental... Mar 2022Individuals with Down syndrome (DS) have numerous comorbidities due to trisomy 21. However, virtual reality-based therapy (VRT) has been used nowadays as a learning and... (Review)
Review
Individuals with Down syndrome (DS) have numerous comorbidities due to trisomy 21. However, virtual reality-based therapy (VRT) has been used nowadays as a learning and visual motor tool in order to facilitate the development and learning process of this group. The aim of this article was to carry out an integrative review of the literature on the use of virtual and computational technologies in the stimulation of children with DS. A search was carried out according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) through single key words or their combinations using AND or OR operators: "Down syndrome" AND ("development" OR "cognition" OR "visomotor" OR "digital game" OR "virtual reality"). Eventually, 18 articles were included in our review. The games used in the research were able to stimulate, through the visual field, global motor skills, balance, body scheme and spatial organization, in addition to the learning of mathematical concepts, in order to directly influence the autonomous life activities, language skills, social skills and educational aspects of people with DS. Electronic games contribute to the teaching-learning relationship and stimulate neuropsychomotor and cognitive functions and development in children with DS.
Topics: Child; Cognition; Down Syndrome; Humans; Learning; Motor Skills; Virtual Reality
PubMed: 35270648
DOI: 10.3390/ijerph19052955 -
Frontiers in Oral Health 2021Oral diseases are a universal public health problem with serious health and economic burdens. These diseases are a major concern in the pediatric population...
Oral diseases are a universal public health problem with serious health and economic burdens. These diseases are a major concern in the pediatric population specifically. In the United Arab Emirates (UAE), among all the diseases that affect children, oral diseases, particularly early childhood caries, are the most common despite improvement in the provision of oral health services. Enhancing oral health status is one of the key public health goals in the country. This current systematic review aims to summarize the available data on oral health among children and adolescents in the UAE over the past decade (2011-2021). The review was conducted following a predefined protocol and in concordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement. PubMed, the Cumulative Index to Nursing and Allied Health Literature (CINAHL) EBSCO, EMBASE Ovid, the Cochrane Library, and the Index Medicus for the Eastern Mediterranean Region (IMEMR) databases, and the gray literature were searched for original studies reporting on oral health in the pediatric population in the UAE, without applying any language restriction. Twenty-nine studies were included reporting on a total of 43,916 participants; they were mostly cross-sectional, and emirate-based; they were mostly limited by their setting and convenient sampling. Among the general pediatric population, results showed a high prevalence of dental caries across different emirates. Nevertheless, it was difficult to provide a predictable profile of caries, as risk factors were not well-explored and inconsistent across studies. Suboptimal oral hygiene practices were also prevalent, in addition to a low utilization of dental services. Furthermore, included studies showed a high level of oral problems in children with different disease (down syndrome, cerebral palsy, thalassemia, autism…) and special conditions (children in prison nurseries); yet, in general, treatment indices were lower than their healthy counterparts. This review suggests that dental caries is a major pediatric health problem in the UAE. Risk factors included higher consumption of snacks, being in public schools, lower maternal education level, and socioeconomic status. Nevertheless, risk factors were not well-explored and inconsistent across studies. Suboptimal oral hygiene practices and a low utilization of dental services were also identified, in addition to a high level of oral problems in children with different disease coupled with lower treatment indices in comparison with their healthy counterparts. This systematic review provides crucial information for planning and evaluating effective oral health programs, identifies gaps in the recent research in this field, and paves the way for preventive and interventional studies targeting oral health in pediatrics in the UAE. Immediate oral health promotion strategies are needed to address this public health problem early in its course by creating conditions that promote oral health, and increasing uptake of dental services. Intensifying research to draw temporal trends, understand the profile of childhood caries in the UAE, and explore cost-effective national community prevention programs are also needed.
PubMed: 35048059
DOI: 10.3389/froh.2021.744328 -
Research in Developmental Disabilities Feb 2022Dementia in people with intellectual disability (ID) is frequent but hard to recognise. Evidence-based recommendations for suitable instruments are lacking.
BACKGROUND
Dementia in people with intellectual disability (ID) is frequent but hard to recognise. Evidence-based recommendations for suitable instruments are lacking.
AIMS
The present study set out to evaluate informant-based dementia assessment instruments and to provide evidence-based recommendations for instruments most suitable in clinical practice and research.
METHOD AND PROCEDURES
A systematic review was conducted across ten international electronic databases. The COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) guidelines, including a risk of bias assessment, was applied to extract information and to evaluate measurement properties and the quality of available evidence.
OUTCOMES AND RESULTS
In total, 42 studies evaluating 18 informant-based assessment instruments were analysed. For screening purposes, we recommend the Behavioral and Psychological Symptoms of Dementia in Down Syndrome Scale (BPSD-DS), the Cognitive Scale for Down Syndrome (CS-DS), and the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID). For a more thorough dementia assessment, we recommend the Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities (CAMDEX-DS).
CONCLUSIONS AND IMPLICATIONS
Our study informs clinicians and researchers about adequate, well-evaluated dementia assessment instruments for people with ID, and highlights the need for high quality studies, especially regarding content validity.
Topics: Aged; Bias; Dementia; Down Syndrome; Humans; Intellectual Disability; Mass Screening
PubMed: 34954669
DOI: 10.1016/j.ridd.2021.104148 -
World Journal of Clinical Pediatrics Nov 2021Pulmonary hypertension (PH) has serious short- and long-term consequences. PH is gaining increasing importance in high risk groups such as Down syndrome (DS) as it...
BACKGROUND
Pulmonary hypertension (PH) has serious short- and long-term consequences. PH is gaining increasing importance in high risk groups such as Down syndrome (DS) as it influences their overall survival and prognosis. Hence, there is a dire need to collate the prevalence rates of PH in order to undertake definitive measures for early diagnosis and management.
AIM
To determine the prevalence of PH in children with DS.
METHODS
The authors individually conducted a search of electronic databases manually (Cochrane library, PubMed, EMBASE, Scopus, Web of Science). Data extraction and quality control were independently performed by two reviewers and a third reviewer resolved any conflicts of opinion. The words used in the literature search were "pulmonary hypertension" and "pulmonary arterial hypertension"; "Down syndrome" and "trisomy 21" and "prevalence". The data were analyzed by Comprehensive Meta-Analysis Software Version 2. Risk of bias assessment and STROBE checklist were used for quality assessment.
RESULTS
Of 1578 articles identified, 17 were selected for final analysis. The pooled prevalence of PH in these studies was 25.5%. Subgroup analysis was carried out for age, gender, region, year of publication, risk of bias and etiology of PH.
CONCLUSION
This review highlights the increasing prevalence of PH in children with DS. It is crucial for pediatricians to be aware of this morbid disease and channel their efforts towards earlier diagnosis and successful management. Community-based studies with a larger sample size of children with DS should be carried out to better characterize the epidemiology and underlying etiology of PH in DS.
PubMed: 34868894
DOI: 10.5409/wjcp.v10.i6.177 -
Frontiers in Pediatrics 2021Inflammatory bowel disease (IBD) is a typical polygenic disorder and less frequently shows a monogenic origin. Furthermore, IBD can originate in the context of specific...
Inflammatory bowel disease (IBD) is a typical polygenic disorder and less frequently shows a monogenic origin. Furthermore, IBD can originate in the context of specific genetic syndromes associated with a risk of autoimmune disorders. We aimed to systematically evaluate the prevalence of IBD in specific genetic syndromes and to review the clinical characteristics of the published cases. According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, studies describing patients with IBD and a genetic syndrome and/or studies indicating the prevalence or incidence of IBD in subjects with a genetic syndrome were included. Forty-six studies describing a total of 67 cases of IBD in six genetic syndromes and two personally assessed unpublished cases were included in the review. The majority of cases were associated with Turner syndrome (TS) (38 cases), Down syndrome (DS) (18 cases) and neurofibromatosis type 1 (NF1) (8 cases). Sporadic cases were described in DiGeorge syndrome (2), Kabuki syndrome (2), and Williams syndrome (1). The prevalence of IBD ranged from 0.67 to 4% in TS and from 0.2 to 1.57% in DS. The incidence of IBD was increased in TS and DS compared to the general population. Eight cases of IBD in TS had a severe/lethal course, many of which described before the year 2000. Two IBD cases in DS were particularly severe. Evidence of a greater prevalence of IBD is accumulating in TS, DS, and NF1. Management of IBD in patients with these genetic conditions should consider the presence of comorbidities and possible drug toxicities. : PROSPERO, identifier: CRD42021249820.
PubMed: 34765575
DOI: 10.3389/fped.2021.742830 -
Frontiers in Neurology 2021By reviewing the existing clinical studies about visual snow (VS) as a symptom or as part of visual snow syndrome (VSS), we aim at improving our understanding of VSS...
By reviewing the existing clinical studies about visual snow (VS) as a symptom or as part of visual snow syndrome (VSS), we aim at improving our understanding of VSS being a network disorder. Patients with VSS suffer from a continuous visual disturbance resembling the view of a badly tuned analog television (i.e., VS) and other visual, as well as non-visual symptoms. These symptoms can persist over years and often strongly impact the quality of life. The exact prevalence is still unknown, but up to 2.2% of the population could be affected. Presently, there is no established treatment, and the underlying pathophysiology is unknown. In recent years, there have been several approaches to identify the brain areas involved and their interplay to explain the complex presentation. We collected the clinical and paraclinical evidence from the currently published original studies on VS and its syndrome by searching PubMed and Google Scholar for the term visual snow. We included original studies in English or German and excluded all reviews, case reports that did not add new information to the topic of this review, and articles that were not retrievable in PubMed or Google Scholar. We grouped the studies according to the methods that were used. Fifty-three studies were found for this review. In VSS, the clinical spectrum includes additional visual disturbances such as excessive floaters, palinopsia, nyctalopia, photophobia, and entoptic phenomena. There is also an association with other perceptual and affective disorders as well as cognitive symptoms. The studies that have been included in this review demonstrate structural, functional, and metabolic alterations in the primary and/or secondary visual areas of the brain. Beyond that, results indicate a disruption in the pre-cortical visual pathways and large-scale networks including the default mode network and the salience network. The combination of the clinical picture and widespread functional and structural alterations in visual and extra-visual areas indicates that the VSS is a network disorder. The involvement of pre-cortical visual structures and attentional networks might result in an impairment of "filtering" and prioritizing stimuli as top-down process with subsequent excessive activation of the visual cortices when exposed to irrelevant external and internal stimuli. Limitations of the existing literature are that not all authors used the ICHD-3 definition of the VSS. Some were referring to the symptom VS, and in many cases, the control groups were not matched for migraine or migraine aura.
PubMed: 34671311
DOI: 10.3389/fneur.2021.724072 -
Brain Sciences Sep 2021A proportion of young people with Down syndrome (DS) experience unexplained regression that severely impacts on their daily lives. While this condition has been... (Review)
Review
A proportion of young people with Down syndrome (DS) experience unexplained regression that severely impacts on their daily lives. While this condition has been recognised by clinicians, there is a limited understanding of causation and an inconsistent approach to diagnosis and treatment. Varied symptomology and little knowledge of the cause of this regression have impacted on clinician's ability to prevent or manage this condition. The purpose of this review was to examine the current evidence surrounding unexplained regression in adolescents and young adults, and to establish patterns that may be of use to clinicians, as well as raising awareness of this condition. Four areas were specifically reviewed, (1) terminology used to refer to this condition, (2) the symptoms reported, (3) potential trigger events and, (4) treatments and prognosis. A variety of terminology is used for this condition, which has constrained past attempts to identify patterns. An extensive number of symptoms were reported, however sleep impairment, loss of language and distinct changes in personality and behaviour, such as disinterest and withdrawal, were among the most frequently seen. Life events that were tentatively associated with the onset of a regressive period included a significant change in environmental circumstances or a transition, such as moving home or leaving school. Prognosis for this condition is relatively positive with the majority of individuals making at least a partial recovery. However, few patients were found to make a full recovery to their previous level of functioning and serious adverse effects could persist in those who have made a partial recovery. This is an under-researched condition with significant impacts on people with DS and their families. There are no established treatments for this condition and there is relatively little recognition in the research community. Further studies that focus on the prevention and treatment of this condition with controlled treatment trials are needed.
PubMed: 34573218
DOI: 10.3390/brainsci11091197