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BMC Public Health Feb 2024The aim of the study was to identify the variables of the internal compensatory mechanisms that differentiate the body build and posture of people with Down syndrome...
BACKGROUND
The aim of the study was to identify the variables of the internal compensatory mechanisms that differentiate the body build and posture of people with Down syndrome (DS) from the intellectual disability (ID) population. It was assumed that gaining knowledge in the abovementioned aspect will allow for a better understanding of the limitation of the kinesthetic abilities of people with ID and DS and simultaneously enable to optimize the process of planning and interventions to improve physical activity in this population with the adequate use of theirs strengths in the biomechanical and morphofunctional systems.
METHODS
The methodology of this systematic review was developed according to the PRISMA guidelines. A search of PubMed, EBSCO, Scopus databases was conducted to identify all studies on DS/ID and the body build and posture from 2003 to 2023.
RESULTS
395 articles were assessed to determine eligibility, while 22 studies met the inclusion criteria and were subjected to detailed analysis and assessment of their methodological quality. The differentiation of the body build and posture in DS population can be induced by both internal and external compensatory mechanisms. It is difficult to confirm the direct effect of the intrinsic variables that impact the body build and posture in the ID population, excluding people with DS.
CONCLUSIONS
Compared to other ID, the intrinsic differences in the body build and posture in DS individuals were induced by gender, age, and level of ID. The tendency for diversity between DS and other ID populations in body build and posture may be determined by the presence of the third copy of chromosome 21 in DS group. Internal compensatory processes may be induced mainly by abnormalities in the structure of the cervical vertebrae and feet. IQ should not be used as the only variable that identifies the population of people with ID.
Topics: Humans; Down Syndrome; Intellectual Disability; Somatotypes; Exercise; Posture
PubMed: 38326795
DOI: 10.1186/s12889-024-17908-0 -
Aging & Mental Health 2024As the life expectancy of individuals with intellectual disabilities (ID) continues to increase, there is an increased risk of developing dementia. While psychosocial... (Review)
Review
OBJECTIVES
As the life expectancy of individuals with intellectual disabilities (ID) continues to increase, there is an increased risk of developing dementia. While psychosocial interventions are gaining prominence, evidence is limited for people with both dementia and ID. This review discusses the effectiveness of direct psychosocial interventions and adaptations to facilitate delivery within this population.
METHODS
The review followed the PRISMA guidelines. Five electronic databases, grey literature, and reference lists of included articles were searched for relevant studies. 10 eligible studies were appraised and analysed by narrative synthesis.
RESULTS
Ten distinct interventions were identified and categorised based on their purpose and delivery. All interventions were beneficial in improving a range of outcomes, though some studies were of low quality and most had small samples. Common adaptations included simplification of tasks and material, higher staff-to-client ratio, and alternative communication methods.
CONCLUSION
There is emerging evidence for several psychosocial interventions for people with ID and dementia, though further research is required on effectiveness and generalisability. The adaptations discussed may guide implementation into routine care and contribute to current policies and guidelines on improving ID and dementia care.
Topics: Humans; Psychosocial Intervention; Intellectual Disability; Narration; Dementia
PubMed: 37811724
DOI: 10.1080/13607863.2023.2265322 -
Cureus Feb 2024Irritable bowel syndrome (IBS) is a common yet debilitating and chronic condition that consists of disturbances in bowel habits and abdominal pain that is frequently... (Review)
Review
Irritable bowel syndrome (IBS) is a common yet debilitating and chronic condition that consists of disturbances in bowel habits and abdominal pain that is frequently relieved with defecation. While the first line of treatment for IBS is pharmacological treatment, this has been shown to fail, leading to the patient being classified as having refractory IBS. The quality of life (QOL) of these patients is greatly hindered; in this case, there are rarely moments of relief. Additional modalities of treatment have been employed in classical cases of IBS, such as psychotherapy, and research has started to evaluate its effectiveness with refractory IBS. Both cognitive behavioral therapy (CBT) and gut-directed hypnotherapy (GDH) are effective in treating classical IBS as they restructure and bring a state of meditation to the patient, allowing them to work through the symptoms. The question is whether it remains successful in refractory cases. This systematic review was conducted with strict adherence to PRISMA guidelines with an initial inquiry resulting in 28,978 publications through PubMed, ScienceDirect, and ProQuest databases. Through automatic and manual screening processes, articles that were peer-reviewed experimental or observation publications done between 2003 and 2023 were included in this study, resulting in 21 publications. Across all studies evaluating CBT, it was consistently found to be successful in improving symptom severity and frequency, QOL, and extracolonic symptoms such as anxiety and depression. When broken down into delivery methods, minimal contact CBT was found to be just as, if not superior, to standard contact. Within this, telephone-delivered CBT was superior to web-delivered CBT. GDH and biofeedback therapy were found to also significantly improve all domains of IBS with no difference between them. Acceptance and commitment therapy were found only to improve associated symptoms. However, there was no significant improvement in their QOL, whereas integrative group therapy found no significant improvement in any domain. Because IBS is so common and crippling to those affected, its crucial to continuously improve QOL through advancement in treatment modalities. Further research should focus more on other modes of therapy as success has been shown in standard therapeutic techniques.
PubMed: 38487115
DOI: 10.7759/cureus.54138 -
Cancer Medicine May 2024People with intellectual disabilities (ID) face barriers in cancer care contributing to poorer oncological outcomes. Yet, understanding cancer risks in the ID population... (Review)
Review
BACKGROUND
People with intellectual disabilities (ID) face barriers in cancer care contributing to poorer oncological outcomes. Yet, understanding cancer risks in the ID population remains incomplete.
AIM
To provide an overview of cancer incidence and cancer risk assessments in the entire ID population as well as within ID-related disorders.
METHODS
This systematic review examined cancer risk in the entire ID population and ID-related disorders. We systematically searched PubMed (MEDLINE) and EMBASE for literature from January 1, 2000 to July 15, 2022 using a search strategy combining terms related to cancer, incidence, and ID.
RESULTS
We found 55 articles assessing cancer risks in the ID population at large groups or in subgroups with ID-related syndromes, indicating that overall cancer risk in the ID population is lower or comparable with that of the general population, while specific disorders (e.g., Down's syndrome) and certain genetic mutations may elevate the risk for particular cancers.
DISCUSSION
The heterogeneity within the ID population challenges precise cancer risk assessment at the population level. Nonetheless, within certain subgroups, such as individuals with specific ID-related disorders or certain genetic mutations, a more distinct pattern of varying cancer risks compared to the general population becomes apparent.
CONCLUSION
More awareness, and personalized approach in cancer screening within the ID population is necessary.
Topics: Humans; Intellectual Disability; Neoplasms; Risk Assessment; Incidence; Risk Factors; Early Detection of Cancer
PubMed: 38686623
DOI: 10.1002/cam4.7210 -
The Annals of Otology, Rhinology, and... Mar 2024The Hypoglossal Nerve Stimulator (HNS) is a novel therapy that has been extensively studied in adults and more recently, it has been incorporated in children with Down...
INTRODUCTION
The Hypoglossal Nerve Stimulator (HNS) is a novel therapy that has been extensively studied in adults and more recently, it has been incorporated in children with Down Syndrome (DS) with persistent obstructive sleep apnea after adenotonsillectomy and trial of continuous positive airway pressure treatment. This systematic review article aims to examine the existing literature on HNS use in children to explore the benefits, efficacy, and parental experiences.
METHODS
MEDLINE, Web of Science and EMBASE were searched to include all studies published up to March 2nd, 2023, on the topic of HNS use in pediatric population under 21 years old.
RESULTS
A total of 179 studies were initially identified from which 10 articles were consistent with the inclusion criteria. Nine articles addressed outcomes after implantation of the HNS device in children with DS and 1 article explored the parental experiences. Findings were similar across studies where after implantation of HNS, there was marked improvement in polysomnographic outcomes and quality of life scores with high level of compliance.
CONCLUSIONS
HNS holds promise as an effective treatment option for pediatric patients with DS and persistent OSA after AT and CPAP trials. It significantly improves sleep-disordered breathing, quality of life, and neurocognitive measures, leading to substantial and sustained benefits for these children. While the findings are encouraging, further research is needed to explore the potential of HNS in other pediatric populations without DS and to raise awareness among healthcare providers about this treatment option. Overall, HNS may offer significant long-term benefits for the overall well-being and health of pediatric patients with DS and persistent OSA.
Topics: Adult; Humans; Child; Adolescent; Young Adult; Hypoglossal Nerve; Down Syndrome; Quality of Life; Electric Stimulation Therapy; Sleep Apnea, Obstructive
PubMed: 38062678
DOI: 10.1177/00034894231216287 -
Seizure Jan 2024Epilepsy is one of the most frequent neurological comorbidities in patients with Down Syndrome (DS). Young patients and adults are the most affected, the latter mostly... (Review)
Review
INTRODUCTION
Epilepsy is one of the most frequent neurological comorbidities in patients with Down Syndrome (DS). Young patients and adults are the most affected, the latter mostly showing a phenotype labeled as "Late-onset myoclonic epilepsy" (LOMEDS). Status epilepticus (SE) is a life-threatening complication in patients with epilepsy. In this study, we described a non-convulsive SE (NCSE) case in a patient diagnosed with LOMEDS. We also performed a systematic review of the literature on SE diagnosis and treatment in patients with Down Syndrome.
METHODS
Clinical and demographic characteristics of a DS patient diagnosed with NCSE were described. The systematic literature search dissected the diagnostic and therapeutic management of SE in patients with DS. The following databases were used: PubMed, EMBASE, and Google Scholar.
RESULTS
5 DS individuals (4 from the past literature + 1 novel case report) with SE have been identified. The median age at SE onset was 42 years (IQR: 21-60.5 years). The most common SE type was myoclonic SE (MSE), followed by NCSE. Two cases of acute symptomatic etiology were described, whereas a progressive symptomatic etiology was otherwise reported. Ictal EEG recording information was available in two patients who showed generalized spike waves and polyspike and wave discharges. In 3 cases, SE was treated with intravenous antiseizure medications that produced a complete resolution.
CONCLUSION
SE may represent a rare complication in patients with DS. Although no definitive conclusions may be achieved due to the lack of evidence, treatment with valproic acid seems effective, especially in MSE. NCSE management is more challenging. It requires low doses of anesthetics, which should be used cautiously due to the high rate of complications.
Topics: Adult; Humans; Middle Aged; Young Adult; Down Syndrome; Electroencephalography; Epilepsy; Status Epilepticus; Valproic Acid
PubMed: 38101201
DOI: 10.1016/j.seizure.2023.11.009 -
The Pediatric Infectious Disease Journal May 2024Acute lower respiratory infection (ALRI) caused by respiratory viruses is among the most common causes of hospitalization and mortality in children. We aimed to identify... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Acute lower respiratory infection (ALRI) caused by respiratory viruses is among the most common causes of hospitalization and mortality in children. We aimed to identify risk factors for poor outcomes in children <5 years old hospitalized with ALRI caused by respiratory syncytial virus (RSV), influenza and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
METHODS
We searched Embase, Medline and Global Health databases and included observational studies reporting risk factors for poor outcomes (defined as use of supplemental oxygen, mechanical ventilation, intensive care unit admission, prolonged hospital stay and mortality) published between January 2011 and January 2023. Two authors independently extracted data on study characteristics, outcomes and risk factors. Due to limited data, meta-analyses were only conducted for RSV-ALRI poor outcome risk factors using random effects model when there were at least 3 studies.
RESULTS
We included 30 studies. For RSV-related ALRI, significant risk factors based on meta-analysis were: neurological disease [odds ratio (OR): 6.14; 95% confidence intervals (CIs): 2.39-15.77], Down's syndrome (5.43; 3.02-9.76), chronic lung disease (3.64; 1.31-10.09), immunocompromised status (3.41; 1.85-6.29), prematurity (2.98; 1.93-4.59), congenital heart disease (2.80; 1.84-4.24), underlying disease (2.45; 1.94-3.09), age <2 months (2.29; 1.78-2.94), age <6 months (2.08; 1.81-2.39), viral coinfection (2.01; 1.27-3.19), low birth weight (1.88; 1.19-2.95) and being underweight (1.80; 1.38-2.35). For influenza-related ALRI, chronic conditions and age 6-24 months were identified as risk factors for poor outcomes. Cardiovascular disease, immunosuppression, chronic kidney disease, diabetes and high blood pressure were reported as risk factors for mortality due to SARS-CoV-2 associated ALRI.
CONCLUSIONS
These findings might contribute to the development of guidelines for prophylaxis and management of ALRI caused by RSV, influenza and SARS-CoV-2.
Topics: Infant, Newborn; Child; Humans; Infant; Child, Preschool; Influenza, Human; Respiratory Tract Infections; Infant, Premature; Hospitalization; Risk Factors; Respiratory Syncytial Virus, Human; Respiratory Syncytial Virus Infections
PubMed: 38285519
DOI: 10.1097/INF.0000000000004258 -
PloS One 2024Non-invasive prenatal testing (NIPT) is a widely adopted maternal blood test that analyses foetal originating DNA to screen for foetal chromosomal conditions, including... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Non-invasive prenatal testing (NIPT) is a widely adopted maternal blood test that analyses foetal originating DNA to screen for foetal chromosomal conditions, including Down's syndrome (DS). The introduction of this test, which may have implications for important decisions made during pregnancy, requires continual monitoring and evaluation. This systematic review aims to assess the extent of NIPT introduction into national screening programmes for DS worldwide, its uptake, and impact on pregnancy outcomes.
METHODS AND FINDINGS
The study protocol was published in PROSPERO (CRD42022306167). We systematically searched MEDLINE, CINAHL, Scopus, and Embase for population-based studies, government guidelines, and Public Health documents from 2010 onwards. Results summarised the national policies for NIPT implementation into screening programmes geographically, along with population uptake. Meta-analyses estimated the pooled proportions of women choosing invasive prenatal diagnosis (IPD) following a high chance biochemical screening result, before and after NIPT was introduced. Additionally, we meta-analysed outcomes (termination of pregnancy and live births) amongst high chance pregnancies identified by NIPT. Results demonstrated NIPT implementation in at least 27 countries. Uptake of second line NIPT varied, from 20.4% to 93.2% (n = 6). Following NIPT implementation, the proportion of women choosing IPD after high chance biochemical screening decreased from 75% (95% CI 53%, 88%, n = 5) to 43% (95%CI 31%, 56%, n = 5), an absolute risk reduction of 38%. A pooled estimate of 69% (95% CI 52%, 82%, n = 7) of high chance pregnancies after NIPT resulted in termination, whilst 8% (95% CI 3%, 21%, n = 7) had live births of babies with DS.
CONCLUSIONS
NIPT has rapidly gained global acceptance, but population uptake is influenced by healthcare structures, historical screening practices, and cultural factors. Our findings indicate a reduction in IPD tests following NIPT implementation, but limited pre-NIPT data hinder comprehensive impact assessment. Transparent, comparable data reporting is vital for monitoring NIPT's potential consequences.
Topics: Humans; Down Syndrome; Female; Pregnancy; Noninvasive Prenatal Testing; Prenatal Diagnosis; Pregnancy Outcome
PubMed: 38753891
DOI: 10.1371/journal.pone.0298643 -
Acta Odontologica Scandinavica Jan 2024Different oral motor appliances have been used in connection with speech therapy to improve oral motor function and speech development, but no consensus has been reached... (Review)
Review
BACKGROUND
Different oral motor appliances have been used in connection with speech therapy to improve oral motor function and speech development, but no consensus has been reached on the effectiveness of the appliances. The objective was to systematically review the effectiveness of oral motor appliances on oral motor function and speech in children with speech sound disorders (SSDs) or oral motor dysfunctions.
METHODS
A systematic search was conducted up to February 2023 in the PubMed, Scopus, and Cochrane databases. Inclusion criteria were prospective randomized or case-control clinical trials investigating the effect of intraoral appliances on orofacial function and/or speech. The risk of bias was evaluated by the Cochrane Collaboration's Robins-I tool.
RESULTS
Nine publications of three individual studies met the inclusion and search criteria. Six of the publications were conducted in children with Down Syndrome (DS) and three publications were conducted in children with Cerebral Palsy (CP). No meta-analysis was made due to the limitations of the publications. Selected studies reported some beneficial effects of intraoral appliances on oral motor function in children with DS and CP, although the evidence is low. Due to the study design in selected studies and confounding factors, the overall risk of bias was categorized as moderate or high.
DISCUSSION
Intraoral appliances may improve oral motor function in children with DS and CP. Due to lack of studies this review limited to children with DS and CP. The initial question concerning SSDs was not answered. Well-designed RCTs with larger sample sizes are needed, especially among non-syndromic children with SSDs. The level of evidence was considered very low.
Topics: Child; Humans; Speech; Prospective Studies
PubMed: 37615355
DOI: 10.1080/00016357.2023.2249547 -
Neurology Jun 2024Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic...
BACKGROUND AND OBJECTIVES
Knowledge of young-onset Alzheimer disease in adults with Down syndrome has greatly improved clinical care. However, little is known about dementia in rare genetic neurodevelopmental disorders (RGNDs). In this review, a comprehensive overview is provided of reports on dementia and cognitive/adaptive trajectories in adults with RGNDs.
METHODS
A systematic literature review was conducted in Embase, Medline ALL, and PsycINFO on December 6, 2022. The protocol was registered in PROSPERO (CRD42021223041). Search terms for dementia, cognitive and adaptive functioning, and RGNDs were combined using generic terms and the Orphanet database. Study characteristics and descriptive data on genetic diagnosis, clinical and neuropathologic features, comorbidities, and diagnostic methods were extracted using a modified version of the Cochrane Data Extraction Template.
RESULTS
The literature search yielded 40 publications (17 cohorts, 23 case studies) describing dementia and/or cognitive or adaptive trajectories in adults with 14 different RGNDs. Dementia was reported in 49 individuals (5 cohorts, 20 cases) with a mean age at onset of 44.4 years. Diagnostics were not disclosed for half of the reported individuals (n = 25/49, 51.0%). A total of 44 different psychodiagnostic instruments were used. MRI was the most reported additional investigation (n = 12/49, 24.5%). Comorbid disorders most frequently associated with cognitive/adaptive decline were epilepsy, psychotic disorders, and movement disorders.
DISCUSSION
Currently available literature shows limited information on aging in RGNDs, with relatively many reports of young-onset dementia. Longitudinal data may provide insights into converging neurodevelopmental degenerative pathways. We provide recommendations to optimize dementia screening, diagnosis, and research.
Topics: Humans; Dementia; Neurodevelopmental Disorders; Rare Diseases; Adult
PubMed: 38759134
DOI: 10.1212/WNL.0000000000209413