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Journal of Intellectual Disability... Aug 2019Down syndrome is the most common chromosomal abnormality, with a worldwide incidence of around 0.1% in live births. It is related to several conditions in which the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Down syndrome is the most common chromosomal abnormality, with a worldwide incidence of around 0.1% in live births. It is related to several conditions in which the physical therapy could take action-preventing co-morbidities. This study aims to evaluate the effectiveness of physical therapy in Down syndrome, to know and compare the effectiveness of different physical therapy interventions in this population.
METHODS
A systematic review and a meta-analysis of randomised controlled trials were conducted. The search was performed during June 2018 in the following databases: PubMed, Web of Science, Physiotherapy Evidence Database and Scopus. The studies were selected using predefined inclusion and exclusion criteria. The Physiotherapy Evidence Database scale evaluated the quality of the methods used in the studies. Subsequently, the data were extracted, and statistical analysis was performed when possible.
RESULTS
A total of 27 articles were included, of which nine contributed information to the meta-analysis. Statistical analysis showed favourable results for the strength of upper and lower limbs [standardised mean difference (SMD) = 1.46; 95% confidence interval (CI): (0.77-2.15); and SMD = 2.04; 95% CI: (1.07-3.01)] and mediolateral oscillations of balance [SMD = -3.30; 95% CI: (-5.34 to -1.26)].
CONCLUSIONS
The results show the potential benefit of certain types of physical therapy interventions, specifically in strength and balance, in people with Down syndrome. There are still many aspects to clarify and new lines of research.
Topics: Down Syndrome; Humans; Physical Therapy Modalities
PubMed: 30788876
DOI: 10.1111/jir.12606 -
Arquivos de Neuro-psiquiatria Jun 2022The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype...
The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.
Topics: Autism Spectrum Disorder; Autistic Disorder; Down Syndrome; Early Diagnosis; Humans; Quality of Life
PubMed: 35946706
DOI: 10.1590/0004-282X-ANP-2021-0156 -
Scientific Reports Jul 2022The effects and the prescription parameters of therapeutic exercise are not clear. For this reason, is needed to determine the effect of therapeutic exercises on the... (Meta-Analysis)
Meta-Analysis
The effects and the prescription parameters of therapeutic exercise are not clear. For this reason, is needed to determine the effect of therapeutic exercises on the motor function of children with Down Syndrome (DS) aged 0 to 3 years. The present study is systematic review and meta-analysis of effectiveness outcomes in this population: gait, balance, motor development, fine motor skills, and executive functions. The databases of PubMed, PEDro, EMBASE, SCIELO, Lilacs, Cochrane library were searched from January to December 2019. We recruited Randomized Controlled Trials (RCTs) which met the inclusion criteria in our study. Six studies and 151 participants were included. Two types of therapeutic exercises, aerobic and neuromuscular, were identified. Both types of exercise were effective in improving outcomes. There were no differences between the modes of application of the exercise. No differences were identified between the treadmill and the physiotherapy plan for the reduction of the time to reach independent walking, Mean Difference (MD) 46.79, 95% Confidence Interval (IC) (- 32.60, 126.19), nor for the increase in walking speed MD 0.10 IC (- 0.02, 0.21) m/s. This study suggests that aerobic exercise therapy has a potentially effective role to promote the gait and motor development of children with DS aged 0 to 3 years when it is applied using a treadmill with a frequency of 5 days, a duration of 6-8 min, and an intensity of between 0.2 and 0.5 m/s. Studies with less heterogeneity and larger sample sizes are required.
Topics: Child; Down Syndrome; Exercise; Exercise Therapy; Gait; Humans; Randomized Controlled Trials as Topic; Walking Speed
PubMed: 35906275
DOI: 10.1038/s41598-022-16332-x -
BMC Pediatrics May 2018The use of technology to assist in the communication, socialization, language, and motor skills of children with Down's syndrome (DS) is required. The aim of this study...
BACKGROUND
The use of technology to assist in the communication, socialization, language, and motor skills of children with Down's syndrome (DS) is required. The aim of this study was to analyse research findings regarding the different instruments of 'augmentative and alternative communication' used in children with Down's syndrome.
METHODS
This is a systematic review of published articles available on PubMed, Web of Science, PsycInfo, and BVS using the following descriptors: assistive technology AND syndrome, assistive technology AND down syndrome, down syndrome AND augmentative and alternative communication. Studies published in English were selected if they met the following inclusion criteria: (1) study of children with a diagnosis of DS, and (2) assistive technology and/or augmentative and alternative communication analysis in this population.
RESULTS
A total of 1087 articles were identified. Thirteen articles met the inclusion criteria. The instruments most used by the studies were speech-generating devices (SGDs) and the Picture Exchange Communication System (PECS).
CONCLUSION
Twelve instruments that provided significant aid to the process of communication and socialization of children with DS were identified. These instruments increase the interaction between individuals among this population and their peers, contributing to their quality of life and self-esteem.
Topics: Child; Child Language; Communication Aids for Disabled; Down Syndrome; Humans; Motor Skills; Social Skills
PubMed: 29751828
DOI: 10.1186/s12887-018-1144-5 -
Medicina 2021Cerebral palsy and Down syndrome are two conditions that present with a deficit in motor development. Treadmill interventions were found to improve this delay in...
Cerebral palsy and Down syndrome are two conditions that present with a deficit in motor development. Treadmill interventions were found to improve this delay in development. This work aimed to describe and analyze the methodological quality of studies that applied treadmill interventions alone or combined with other therapies to promote gait and balance in children under 12 years of age with cerebral palsy and Down syndrome. A systematic review was made in different databases: PubMed, PEDro, Cochrane and Science Direct. Only randomized clinical trials published to date were selected. The methodological quality of the identified studies was assessed using the PEDro scale. Of the 324 articles initially found, 10 were selected, which met the established inclusion criteria for qualitative analysis. The variables analyzed were gait and balance in both populations after the treadmill intervention, with and without suspension of body weight. The main conclusion was that the application of a treadmill alone is an effective intervention to promote the development of gait and balance in children under 12 years with cerebral palsy and Down syndrome.
Topics: Body Weight; Cerebral Palsy; Child; Down Syndrome; Exercise Test; Exercise Therapy; Gait; Humans
PubMed: 34137695
DOI: No ID Found -
BMJ Open Jan 2016To measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To measure test accuracy of non-invasive prenatal testing (NIPT) for Down, Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting accuracy.
DESIGN
Systematic review and meta-analysis of published studies.
DATA SOURCES
PubMed, Ovid Medline, Ovid Embase and the Cochrane Library published from 1997 to 9 February 2015, followed by weekly autoalerts until 1 April 2015.
ELIGIBILITY CRITERIA FOR SELECTING STUDIES
English language journal articles describing case-control studies with ≥ 15 trisomy cases or cohort studies with ≥ 50 pregnant women who had been given NIPT and a reference standard.
RESULTS
41, 37 and 30 studies of 2012 publications retrieved were included in the review for Down, Edwards and Patau syndromes. Quality appraisal identified high risk of bias in included studies, funnel plots showed evidence of publication bias. Pooled sensitivity was 99.3% (95% CI 98.9% to 99.6%) for Down, 97.4% (95.8% to 98.4%) for Edwards, and 97.4% (86.1% to 99.6%) for Patau syndrome. The pooled specificity was 99.9% (99.9% to 100%) for all three trisomies. In 100,000 pregnancies in the general obstetric population we would expect 417, 89 and 40 cases of Downs, Edwards and Patau syndromes to be detected by NIPT, with 94, 154 and 42 false positive results. Sensitivity was lower in twin than singleton pregnancies, reduced by 9% for Down, 28% for Edwards and 22% for Patau syndrome. Pooled sensitivity was also lower in the first trimester of pregnancy, in studies in the general obstetric population, and in cohort studies with consecutive enrolment.
CONCLUSIONS
NIPT using cell-free fetal DNA has very high sensitivity and specificity for Down syndrome, with slightly lower sensitivity for Edwards and Patau syndrome. However, it is not 100% accurate and should not be used as a final diagnosis for positive cases.
TRIAL REGISTRATION NUMBER
CRD42014014947.
Topics: Biomarkers; Chromosome Disorders; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; DNA; Down Syndrome; Female; Humans; Pregnancy; Prenatal Diagnosis; Sensitivity and Specificity; Trisomy; Trisomy 13 Syndrome; Trisomy 18 Syndrome
PubMed: 26781507
DOI: 10.1136/bmjopen-2015-010002 -
Clinical and Experimental Pediatrics Mar 2022Individuals with Down syndrome present with several impairments such as hypotonia, ligament laxity, decreased muscle strength, insufficient muscular cocontraction,...
BACKGROUND
Individuals with Down syndrome present with several impairments such as hypotonia, ligament laxity, decreased muscle strength, insufficient muscular cocontraction, inadequate postural control, and disturbed proprioception. These factors are responsible for the developmental challenges faced by children with Down syndrome. These individuals also present with balance dysfunctions.
PURPOSE
This systematic review aims to describe the motor dysfunction and balance impairments in children and adolescents with Down syndrome.
METHODS
We searched the Scopus, ScienceDirect, MEDLINE, Wiley, and EBSCO databases for observational studies evaluating the motor abilities and balance performance in individuals with Down syndrome. The review was registered on PROSPERO.
RESULTS
A total of 1,096 articles were retrieved; after careful screening and scrutinizing against the inclusion and exclusion criteria, 10 articles were included in the review. Overall, the children and adolescents with Down syndrome showed delays and dysfunction in performing various activities such as sitting, pulling to stand, standing, and walking. They also presented with compensatory mechanisms to maintain their equilibrium in static and dynamic activities.
CONCLUSION
The motor development of children with Down syndrome is significantly delayed due to structural differences in the brain. These individuals have inefficient compensatory strategies like increasing step width, increasing frequency of mediolateral center of pressure displacement, decreasing anteroposterior displacement, increasing trunk stiffness, and increasing posterior trunk displacement to maintain equilibrium. Down syndrome presents with interindividual variations; therefore, a thorough evaluation is required before a structured intervention is developed to improve motor and balance dysfunction.
PubMed: 34126707
DOI: 10.3345/cep.2021.00479 -
Scientific Reports Sep 2022The effects and the prescription parameters of therapeutic exercise are not clear. For this reason, is needed to determine the effect of neuromuscular exercise on...
The effects and the prescription parameters of therapeutic exercise are not clear. For this reason, is needed to determine the effect of neuromuscular exercise on balance, muscle strength and flexibility specifying the parameters and characteristics of effective interventions in children between 6 and 12 years and adolescent between 13 and 18 years with Down Syndrome. The present study is a systematic review of effectiveness outcomes balance, muscle strength and flexibility in this population. The databases of PubMed, PEDro, EMBASE, SCIELO, Lilacs, Cochrane library were searched from May to December 2021. We recruited randomized controlled trials (RCTs) which met the inclusion criteria in our study. Ten studies were included. The interventions included mechanotherapy, vibration, and use of different unstable surfaces. The exercise frequency ranged from 3 to 5 days a week, and the duration of each session was between six and 15 min. The frequency was between two and three times a week for 6 and 12 weeks and the intensity were between 60 and 80% of maximal voluntary contraction. Neuromuscular exercise in different modes of application was associated with increases in chest and lower limb muscle strength mean 8.51, CI [2.35-14.67] kg and (21.54 [1.64, 41.43]) kg. Balance also improved when the mode of application was isokinetic training and core stability exercises (- 0.20 [- 0.29, - 0.12]) evaluated with stability index. Neuromuscular exercise appears to be effective for the improvement of both lower limb and chest muscle strength and balance in children over 8 years. No evidence was found in children under 8 years.
Topics: Adolescent; Child; Down Syndrome; Exercise; Exercise Therapy; Humans; Muscle Strength; Muscle, Skeletal; Randomized Controlled Trials as Topic
PubMed: 36056081
DOI: 10.1038/s41598-022-19086-8 -
African Journal of Disability 2019Many patients with Down syndrome (PWDS) have poor cardiometabolic risk profiles, aerobic capacities and weak hypotonic muscles, primarily because of physical inactivity... (Review)
Review
BACKGROUND
Many patients with Down syndrome (PWDS) have poor cardiometabolic risk profiles, aerobic capacities and weak hypotonic muscles, primarily because of physical inactivity and poor diet.
OBJECTIVES
This study discusses the benefits of exercise therapy on body composition, aerobic capacity, muscle strength, proprioception and cardiometabolic profiles of PWDS.
METHODS
A literature review using the Crossref metadatabase, following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), focusing on the period 2007-2018, was undertaken. Each record was judged adopting the modified Downs and Black Appraisal Scale. The literature investigation identified 15 701 records. Records were excluded if they were published before 2007, pertained to the impact of exercise on intellectual disabilities beyond Down syndrome or the impact of medical, pharmaceutical, nutrition and psychological interventions among PWDS and were published in languages besides English. Nineteen articles were synthesised into this commentary.
RESULTS
PWDS have a heightened cardiometabolic risk profile and high oxidative stress associated with elevated insulin resistance, poor insulin sensitivity, atherosclerosis and hypertension. PWDS have low aerobic capacity (VO), peak heart rates, muscle strength, agility and balance. Regular physical activity is beneficial to improve their VO and muscle strength. Moreover, regular physical activity reduces lipid peroxidation and arterial cell wall damage, the pathogenesis of atheroma is limited.
CONCLUSION
Exercise therapy compliance seems to have a positive impact on the cardiometabolic risk profile, muscle strength and aerobic work capacity of PWDS. Nonetheless, additional vigorous experimental investigations are necessary to better understand the effect of exercise therapy on the aerobic, strength, proprioception and cardiometabolic risk profile of PWDS.
PubMed: 31745461
DOI: 10.4102/ajod.v8i0.576 -
Advances in Clinical and Experimental... Nov 2019Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and...
Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and characteristics found in trisomy 21, which greatly affect the functioning of the stomatognathic system. The most significant disorders include the following: false macroglossia, muscular hypotonia and gothic palate. These abnormalities affect articulation, breathing, food intake, and swallowing. We analyzed the morphological characteristics of the craniofacial region in children with DS based on the current literature review. The following databases were used for the analysis: MEDLINE (via PubMed), Scopus, Infona, and Dentistry & Oral Sciences Source. In the course of the study, 199 pieces of literature were analyzed; the analysis also included 18 articles on children and adults with DS. It also took into account the structure of the palate, dental and skeletal defects, size of the tongue, muscular hypotonia, and temporomandibular joint dysfunction. Down syndrome is still a current subject of research. Although macroglossia, hypotonia, malocclusion, and temporomandibular joint abnormalities are not features exclusive to DS, numerous dysfunctions and parafunctions as well as retarded psychomotor development greatly complicate the treatment. Therefore, interdisciplinary treatment of patients with trisomy 21 and early treatment in the first months of life with the use of the Castillo-Morales plate are very important, as they ensure better adaptation to the subsequently used apparatus and reduce the risk of disorders of the stomatognathic system.
Topics: Down Syndrome; Facial Muscles; Humans; Infant; Infant, Newborn; Macroglossia; Muscle Hypotonia; Tongue; Trisomy
PubMed: 31778604
DOI: 10.17219/acem/112785