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Journal of Applied Research in... Mar 2022This systematic review aimed to explore the effects of sport and physical activity on behaviour and emotional problems, mental health and psychosocial well-being of... (Review)
Review
Effects of physical activity on behaviour and emotional problems, mental health and psychosocial well-being in children and adolescents with intellectual disability: A systematic review.
BACKGROUND
This systematic review aimed to explore the effects of sport and physical activity on behaviour and emotional problems, mental health and psychosocial well-being of children and adolescents with intellectual disability.
METHOD
Five databases were searched systematically (ERIC, MEDLINE, PsycINFO, SportDISCUS and SCOPUS), up to 28 February 2021. Thirty-two studies met criteria for inclusion.
RESULTS
Studies in this review included case studies (n = 15), treatment trials (n = 14), cross sectional studies (n = 2) and a cohort study (n = 1). Evidence was positive, though high risk of bias in treatment trials (7 of 14 rated high) meant generalisability of results was limited.
CONCLUSIONS
The available evidence suggests a positive relationship between physical activity and improved behaviour and emotional problems, mental health and psychosocial well-being; however, more robust randomised controlled trials are required to confirm this.
Topics: Adolescent; Child; Cohort Studies; Cross-Sectional Studies; Exercise; Humans; Intellectual Disability; Mental Health
PubMed: 34796601
DOI: 10.1111/jar.12961 -
Behavioral and Brain Functions : BBF May 2022Genetic variants of DCX, COMT and FMR1 have been linked to neurodevelopmental disorders related to intellectual disability and social behavior. In this systematic review... (Review)
Review
Genetic variants of DCX, COMT and FMR1 have been linked to neurodevelopmental disorders related to intellectual disability and social behavior. In this systematic review we examine the roles of the DCX, COMT and FMR1 genes in the context of hippocampal neurogenesis with respect to these disorders with the aim of identifying important hubs and signaling pathways that may bridge these conditions. Taken together our findings indicate that factors connecting DCX, COMT, and FMR1 in intellectual disability and social behavior may converge at Wnt signaling, neuron migration, and axon and dendrite morphogenesis. Data derived from genomic research has identified a multitude of genes that are linked to brain disorders and developmental differences. Information about where and how these genes function and cooperate is lagging behind. The approach used here may help to shed light on the biological underpinnings in which key genes interface and may prove useful for the testing of specific hypotheses.
Topics: Catechol O-Methyltransferase; Cognitive Dysfunction; Fragile X Mental Retardation Protein; Hippocampus; Humans; Intellectual Disability; Neurogenesis; Social Behavior
PubMed: 35590332
DOI: 10.1186/s12993-022-00191-7 -
Frontiers in Genetics 2020Intellectual disability (ID) manifests prior to adulthood as severe limitations to intellectual function and adaptive behavior. The role of potassium channelopathies in...
Intellectual disability (ID) manifests prior to adulthood as severe limitations to intellectual function and adaptive behavior. The role of potassium channelopathies in ID is poorly understood. Therefore, we aimed to evaluate the relationship between ID and potassium channelopathies. We hypothesized that potassium channelopathies are strongly associated with ID initiation, and that both gain- and loss-of-function mutations lead to ID. This systematic review explores the burden of potassium channelopathies, possible mechanisms, advancements using animal models, therapies, and existing gaps. The literature search encompassed both PubMed and Embase up to October 2019. A total of 75 articles describing 338 cases were included in this review. Nineteen channelopathies were identified, affecting the following genes: , and . Twelve of these genes presented both gain- and loss-of-function properties, three displayed gain-of-function only, three exhibited loss-of-function only, and one had unknown function. How gain- and loss-of-function mutations can both lead to ID remains largely unknown. We identified only a few animal studies that focused on the mechanisms of ID in relation to potassium channelopathies and some of the few available therapeutic options (channel openers or blockers) appear to offer limited efficacy. In conclusion, potassium channelopathies contribute to the initiation of ID in several instances and this review provides a comprehensive overview of which molecular players are involved in some of the most prominent disease phenotypes.
PubMed: 32655623
DOI: 10.3389/fgene.2020.00614 -
Neuropsychology Review Dec 2023Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the q11.23 region of chromosome 7. Recent case series reports and clinical case... (Review)
Review
Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the q11.23 region of chromosome 7. Recent case series reports and clinical case studies have suggested that the cognitive, behavioral, emotional, and social profile in WS could depend on the genes involved in the deletion. The objective of this systematic review was to analyze and synthesize the variability of the cognitive and behavioral profile of WS with atypical deletion and its probable relationship with the affected genes. The medical subject headings searched were "Williams syndrome," "genotype," "phenotype," "cognitive profile," and "atypical deletion." The studies included were in English or Spanish, with children and adults, and published between January 2000 and October 2022. Twenty-three studies are reported. The characteristics of the participants, the genes involved, the neuropsychological domains and instruments, and the prevalence of the WS cognitive profile criteria were used for the genotype-phenotype analysis. The genes with a major impact on the cognitive profile of WS were (a) LIMK1 and those belonging to the GTF2I family, the former with a greater influence on visuospatial abilities; (b) GTF2IRD1 and GTF2I, which have an impact on intellectual capacity as well as on visuospatial and social skills; (c) FZD9, BAZ1B, STX1A, and CLIP2, which influence the cognitive profile if other genes are also effected; and (d) GTF2IRD2, which is related to the severity of the effect on visuospatial and social skills, producing a behavioral phenotype like that of the autism spectrum. The review revealed four neuropsychological phenotypes, depending on the genes involved, and established the need for more comprehensive study of the neuropsychological profile of these patients. Based on the results found, we propose a model for the investigation of and clinical approach to the WS neuropsychological phenotype.
Topics: Child; Adult; Humans; Williams Syndrome; Genotype; Phenotype; Neurodevelopmental Disorders; Transcription Factors, TFIII; Lim Kinases; Bromodomain Containing Proteins; Transcription Factors
PubMed: 36520254
DOI: 10.1007/s11065-022-09571-2 -
Disability and Health Journal Jan 2022Sports participation has many physical and mental health benefits for individuals with a disability including improved functionality and reduced anxiety, yet a large... (Review)
Review
BACKGROUND
Sports participation has many physical and mental health benefits for individuals with a disability including improved functionality and reduced anxiety, yet a large proportion of individuals with a disability are inactive.
OBJECTIVE
To investigate the experiences and perceived health benefits of sport participation across four disability populations: children and adolescents, adults, elite athletes and veterans with a disability.
METHODS
A mixed-methods systematic review was conducted. Eligible studies had participants who were children, adults, elite athletes or veterans with a physical, visual or intellectual disability. Data were extracted using the Joanna Briggs Institute (JBI) tool and quality assessment involved the Quality Assessment Tool for Studies with Diverse Designs (QATSDD). Content, thematic and narrative synthesis techniques were used. Confidence in cumulative evidence was determined using GRADE-CERQual and Classes of Evidence.
RESULTS
Several positive aspects of sport participation were highlighted across all four populations, including socialisation opportunities, pure enjoyment, a sense of freedom and providing an arena to challenge stereotypes. The paucity of research within the 'veterans with a disability' group limited analysis of experiences and benefits of sport in this population.
CONCLUSIONS
This systematic review was the first to explore this phenomena, finding that overall sport is a beneficial experience for individuals with a disability. The positive aspects should be promoted when encouraging sport participation for children, adolescents, adults and elite athletes. More research is needed to explore these phenomena in veterans and to compare perceived benefits between populations to enable tailored promotion of sport.
Topics: Adolescent; Adult; Athletes; Child; Disabled Persons; Health Status; Humans; Mental Health; Sports
PubMed: 34238729
DOI: 10.1016/j.dhjo.2021.101164 -
Acta Psychiatrica Scandinavica Aug 2023A growing body of evidence suggests that pediatric bipolar disorder (PBD) frequently co-occurs with comorbid psychiatric disorders that may impact functioning. (Review)
Review
BACKGROUND
A growing body of evidence suggests that pediatric bipolar disorder (PBD) frequently co-occurs with comorbid psychiatric disorders that may impact functioning.
OBJECTIVE
To review existing literature on the prevalence of psychiatric comorbidity and general functioning in patients with a primary diagnosis of PBD.
METHODS
We performed a systematic literature search on the PubMed, Embase and PsycInfo databases on November 16th, 2022. We included original papers on patients ≤18 years with primary PBD and any comorbid psychiatric disorder, diagnosed according to a validated diagnostic tool. Risk of bias of the individual studies was assessed using the STROBE checklist. We calculated weighted means to assess the comorbidity prevalence. The review complied with PRISMA statement guidelines.
RESULTS
Twenty studies with a total study population of 2722 patients with PBD were included (mean age = 12.2 years). We found an overall high prevalence of comorbidity in patients with PBD. The most common comorbidities were attention-deficit-hyperactivity disorder (ADHD) (60%) and oppositional defiant disorder (ODD) (47%). Anxiety disorders, obsessive-compulsive disorder, conduct disorder, tic disorders and substance-related disorders affected between 13.2% and 29% of patients, while one in 10 had comorbid mental retardation or autism spectrum disorder (ASD). The prevalence of comorbid disorders was lower in studies that assessed the current prevalence in patients in full or partial remission. General functioning was overall not specifically decreased in patients with comorbidity.
CONCLUSIONS
Comorbidity across a broad range of disorders was high in children diagnosed with PBD, especially regarding ADHD, ASD, behavioral and anxiety disorders including OCD. Future original studies should assess current prevalence of comorbidities in patients with PBD who are in remission to obtain more reliable estimates of psychiatric comorbidity in this patient group. The review highlights the clinical and scientific importance of comorbidity in PBD.
Topics: Humans; Child; Bipolar Disorder; Autism Spectrum Disorder; Attention Deficit Disorder with Hyperactivity; Obsessive-Compulsive Disorder; Comorbidity
PubMed: 36941106
DOI: 10.1111/acps.13548 -
Developmental Medicine and Child... Jun 2023To estimate the global prevalence of intellectual developmental disorder (IDD) and the IDD prevalence-genotype association in Becker muscular dystrophy (BMD) or Duchenne... (Meta-Analysis)
Meta-Analysis Review
AIM
To estimate the global prevalence of intellectual developmental disorder (IDD) and the IDD prevalence-genotype association in Becker muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD) according to the affected isoforms of the DMD gene: Dp427, Dp140, Dp71.
METHOD
Systematic searches in MEDLINE, Scopus, Web of Science, and the Cochrane Library were conducted from inception of each database to March 2022. Observational studies that determined the prevalence of IDD in the population with BMD or DMD were included. Meta-analyses of IDD prevalence and prevalence ratios of the IDD-genotype association were conducted.
RESULTS
Forty-nine studies were included. The prevalence of IDD in BMD was 8.0% (95% confidence interval 5.0-11.0), and in DMD it was 22.0% (18.0-27.0). Meta-analyses of IDD-genotype association showed a deleterious association between IDD and the number of isoforms affected in DMD, with a prevalence ratio = 0.43 (0.28-0.64) and 0.17 (0.09-0.34) for Dp140 /Dp71 versus Dp140 /Dp71 and Dp140 /Dp71 versus Dp140 /Dp71 comparisons respectively. However, in BMD, there was no association for Dp140 /Dp71 versus Dp140 /Dp71 .
INTERPRETATION
There is a high prevalence of IDD in BMD and DMD. Moreover, the number of isoforms affected is strongly and negatively associated with the prevalence of IDD in DMD.
WHAT THIS PAPER ADDS
The global prevalence of intellectual developmental disorder (IDD) was 8% in Becker muscular dystrophy and 22% in Duchenne muscular dystrophy (DMD). The global prevalence of IDD in DMD was 12%, 29%, and 84% in participants with Dp427 /Dp140 /Dp71 , Dp427 /Dp140 /Dp71 , and Dp427 /Dp140 /Dp71 genotypes respectively. In DMD, 12% and 22% of participants had abnormal performance IQ and verbal IQ values respectively.
Topics: Child; Humans; Muscular Dystrophy, Duchenne; Dystrophin; Developmental Disabilities; Prevalence; Intellectual Disability; Protein Isoforms
PubMed: 36440509
DOI: 10.1111/dmcn.15481 -
International Journal of Environmental... Jan 2021The objective of this study is to assess the evidence about the demographic transformation of the Down Syndrome population, with a specific focus on prenatal testing,...
The objective of this study is to assess the evidence about the demographic transformation of the Down Syndrome population, with a specific focus on prenatal testing, and to identify sources frequently used for demographic assessment of Down Syndrome in the world. We reviewed existing studies on demographic transformations in the population with Down Syndrome, specifically birthrate indicators, under the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. The searches were made in Medline (via EBSCO Host), Academic Search Complete (via EBSCO Host), PsycINFO (via EBSCO Host), Web of Science (Core Collection), Public Health Database (via ProQuest), and The Cochrane Library. The terms were developed through Medical Subject Headings (MESH) and American Psycological Asociation Thesaurus of Psychological Index Terms (APA). Full texts were reviewed if information was given regarding location and birthrate for a range of three years or more, and if the first and last year considered was within 1960 and 2019. We found 22 references with a period of study between 1960 and 2019 following the global spread of prenatal testing for Down Syndrome. We found a consistent association between prenatal diagnosis and birthrate, enough to explain the significant fall in the prevalence of Down Syndrome, a somewhat rising incidence of Down Syndrome related to increased maternal age and extension of fertility services in healthcare systems, a generalized use of specific congenital birth defect registries as the primary source of data, and an unclear influence of socio-cultural and territorial variables. Our findings can inform research, policy, and practice to improve the reproductive health and quality of life of the population with Down Syndrome.
Topics: Birth Rate; Demography; Down Syndrome; Female; Humans; Maternal Age; Pregnancy; Prenatal Diagnosis; Quality of Life; United States
PubMed: 33466470
DOI: 10.3390/ijerph18010352 -
Diabetes & Metabolic Syndrome Feb 2023Prader-Willi Syndrome (PWS) is a rare genetic disease. Oxytocin is a neuropeptide hormone that impacts fear, and social recognition. Intranasal administration of... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND AND AIMS
Prader-Willi Syndrome (PWS) is a rare genetic disease. Oxytocin is a neuropeptide hormone that impacts fear, and social recognition. Intranasal administration of oxytocin can be utilized to treat PWS patients. The results of published trials assessing the effects of intranasal oxytocin in PWS are variable. The current systematic review aims to investigate the efficacy of oxytocin in Prader-Willi patients.
METHODS
We conducted a systematic literature search on Pubmed, Web of Science, and Scopus from inception to March 2022 for relevant interventional randomized controlled trials (RCTs) reporting the effect of oxytocin in patients with Prader-Willi syndrome. We assessed the quality of included trials using the Cochrane tool risk of bias 1. We performed the meta-analysis with Revman software version 5.4. In addition, we visualized our results using forest plots. We assessed the heterogeneity by using the Chi-square test.
RESULTS
Relevant to hyperphagia, the data extracted in three studies comprising 92 patients did not show positive outcomes of oxytocin compared to placebo (MD = 0.18; 95% CI: -0.44, 0.80; P = 0.56). Three studies that included 94 patients revealed no significant effects regarding weight between oxytocin and placebo (MD = 0.30; 95% CI: -0.22, 0.83; P = 0.25). The Aberrant Behaviour Checklist found that group-administered oxytocin improved behaviour compared to their counterpart who received a placebo.
CONCLUSION
Oxytocin didn't have significant effects on hyperphagia or weight. To establish the impact of oxytocin in Prader-Willi patients, additional prospective, large-sample randomized controlled trials (RCTs) are needed to avoid controversy.
Topics: Humans; Oxytocin; Prader-Willi Syndrome; Administration, Intranasal; Hyperphagia
PubMed: 36774885
DOI: 10.1016/j.dsx.2023.102711 -
Psychology and Psychotherapy Mar 2022Increasing evidence suggests that major depressive disorder (MDD) is highly prevalent in autism spectrum disorder (ASD). The current study is a systematic review of... (Review)
Review
OBJECTIVES
Increasing evidence suggests that major depressive disorder (MDD) is highly prevalent in autism spectrum disorder (ASD). The current study is a systematic review of rates of depression in autistic children and adolescents, without intellectual disability.
DESIGN
Adhering to PRISMA guidelines, a total of 14,557 studies were identified through five databases (MEDLINE, EMBASE, Cinahl, ERIC, PsycINFO, and Web of Science).
METHODS
Articles were screened for inclusion and exclusion criteria and 10% double coded at each stage. Nineteen studies met criteria and were retained in the review.
RESULT
The reported rates of depression in autistic children and adolescents varied from 0% to 83.3%. We discuss these findings in relation to method of report (self/informant, interview/questionnaire), recruitment status (clinical/community recruited), and age (pre-pubertal/adolescent).
CONCLUSION
Rates of depression vary considerably across studies and do not show a particular pattern in relation to methodology, or age. Our research joins a crucial call to action from the research community for future research to improve the identification of depression in autism, which in turn will aid our understanding of the potentially different characterization and manifestation of depression in autism, to ultimately improve assessment and treatment of depression in autistic children and adolescents.
PRACTITIONER POINTS
Rates of depression in autistic children and adolescents vary and do not show a particular pattern in relation to methodology or age. Our research joins the call to action from the research community for future research to improve the identification of depression in autistic children and adolescents, which in turn will aid understanding of depression in autism, and ultimately improve assessment and treatment of depression in autistic children and young people. The development of new measures of depression, specifically designed with, and for, children and adolescents with autism, is warranted.
Topics: Adolescent; Autism Spectrum Disorder; Autistic Disorder; Child; Depression; Depressive Disorder, Major; Humans; Intellectual Disability
PubMed: 34605156
DOI: 10.1111/papt.12366