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1.
Artigo em Inglês | MEDLINE | ID: mdl-32664499

RESUMO

Background: Subjects with Down Syndrome (DS) are characterized by specific physiological alterations, including musculoskeletal abnormalities. Flat Foot (FF), caused by hypotonia and ligament laxity, represents one of the most common disabling disorders in this population. Conservative treatments promote the use of orthopaedic insoles and plantar supports. The aim of this study was to evaluate the impact of Foot Orthoses (FOs) on the gait pattern of subjects with DS, assessing the biomechanical effects associated with their use. Methods: Twenty-nine subjects were screened under two conditions-walking barefoot (WB); with shoes and insoles (WSI), during three trials for each. Assessments were performed through the 3D gait analysis, using an optoelectronic system, force platforms, and video recording. Specifically, synthetic indices of gait kinematics, i.e., gait profile score (GPS) and gait variable score (GVS) were calculated and compared with Wilcoxon signed-rank test, to evaluate between-conditions. Results: Significant variations were found in GVS foot progression index, representative of foot rotation during walking, in adolescents only. Conclusions: Bilateral FOs has a positive immediate impact on gait quality in adolescents with DS, as confirmed by quantitative analysis. FOs prescription is an evidence-based early approach to slow down biomechanical abnormalities and prevent relative symptoms.


Assuntos
Fenômenos Biomecânicos/fisiologia , Síndrome de Down/fisiopatologia , Pé Chato/fisiopatologia , Órtoses do Pé , Marcha/fisiologia , Adolescente , Adulto , Síndrome de Down/complicações , Feminino , Pé Chato/etiologia , Pé Chato/terapia , Humanos , Masculino , Resultado do Tratamento , Caminhada
4.
Hum Genet ; 139(12): 1555-1563, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32535809

RESUMO

The chromosomal region critical in Down syndrome has long been analyzed through genotype-phenotype correlation studies using data from many patients with partial trisomy 21. Owing to that, a relatively small region of human chromosome 21 (35.9 ~ 38.0 Mb) has been considered as Down syndrome critical region (DSCR). In this study, microarray-based comparative genomic hybridization analysis identified complex rearrangements of chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome. Although the patient did not show up-slanting palpebral fissures and single transverse palmar creases, other symptoms were consistent with Down syndrome. Rearrangements were analyzed by whole-genome sequencing using Nanopore long-read sequencing. The analysis revealed that chromosome 21 was fragmented into seven segments and reassembled by six connected points. Among 12 breakpoints, 5 are located within the short region and overlapped with repeated segments. The rearrangement resulted in a maximum gain of five copies, but no region showed loss of genomic copy numbers. Breakpoint-junctions showed no homologous region. Based on these findings, chromoanasynthesis was considered as the mechanism. Although the distal 21q22.13 region was not included in the aberrant regions, some of the genes located on the duplicated regions, SOD1, SON, ITSN1, RCAN1, and RUNX1, were considered as possible candidate genes for clinical features of the patient. We discussed the critical region for Down syndrome, with the literature review.


Assuntos
Cromossomos Humanos Par 21/genética , Cromossomos Humanos/genética , Síndrome de Down/genética , Proteínas Adaptadoras de Transporte Vesicular/genética , Aberrações Cromossômicas , Hibridização Genômica Comparativa/métodos , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Proteínas de Ligação a DNA/genética , Síndrome de Down/fisiopatologia , Feminino , Dosagem de Genes/genética , Estudos de Associação Genética , Humanos , Hibridização in Situ Fluorescente/métodos , Lactente , Análise em Microsséries/métodos , Antígenos de Histocompatibilidade Menor/genética , Proteínas Musculares/genética , Superóxido Dismutase-1/genética , Sequenciamento Completo do Genoma
5.
Braz Oral Res ; 34: e057, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32578800

RESUMO

Poor oral hygiene seems to be the norm in children and teenagers with Down Syndrome (DS). Advances in design and types of toothbrushes may improve biofilm control. This randomized, single-blind, crossover clinical trial evaluated the effectiveness of electric toothbrushes regarding mechanical control of biofilm in children and teenagers with DS and their cooperation. Twenty-nine participants with DS, aged 6 to 14 years, used both types of toothbrushes: electric (ET) and manual (MT). The order of use of the different types of toothbrushes was randomly defined, including a 7-day period with each type with 7-day washout period in between. The Turesky-Quigley-Hein biofilm index was used before and after brushing to assess the effectiveness of the technique. Frankl's behavioral scale was used during toothbrushing to assess the participants' cooperation. Paired T-test, Mann Whitney, Chi-square, and Fisher's Exact tests were applied, with a significance level of 5%. The quantity of dental biofilm was significantly reduced after both brushing techniques (p < 0.001). However, no significant difference was found in total biofilm (ET: 0.73 ± 0.36; MT: 0.73 ± 0.34; p = 0.985) or % biofilm reduction (ET: 72.22%; MT: 70.96%; p = 0.762) after brushing between techniques or in % biofilm reduction between toothbrushes of age groups (6 -9 years, p = 0.919; 10-14 years, p = 0.671). Participants showed similar cooperation level with the two types of toothbrush (p = 1.000). The use of electric or manual toothbrush had no effect on the quantity of dental biofilm removed in children and teenagers with DS, nor did it influence their cooperation during the procedure.


Assuntos
Biofilmes , Dispositivos para o Cuidado Bucal Domiciliar , Placa Dentária/prevenção & controle , Síndrome de Down/fisiopatologia , Escovação Dentária/instrumentação , Adolescente , Comportamento do Adolescente , Cuidadores , Criança , Comportamento Infantil , Estudos Cross-Over , Cárie Dentária/prevenção & controle , Desenho de Equipamento , Feminino , Humanos , Masculino , Estatísticas não Paramétricas , Fatores de Tempo , Resultado do Tratamento
6.
Invest Ophthalmol Vis Sci ; 61(5): 25, 2020 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-32416604

RESUMO

Purpose: Ophthalmic disorders are among the most prevalent Down syndrome (DS) comorbidities. Therefore, when studying mouse models of DS, ignoring how vision is affected can lead to misinterpretation of results from assessments dependent on the integrity of the visual system. Here, we used imaging and electroretinography (ERG) to study eye structure and function in two important mouse models of DS: Ts65Dn and Dp(16)1Yey/+. Methods: Cornea and anterior segment were examined with a slit-lamp. Thickness of retinal layers was quantified by optical coherence tomography (OCT). Eye and lens dimensions were measured by magnetic resonance imaging (MRI). Retinal vasculature parameters were assessed by bright field and fluorescent imaging, and by retinal flat-mount preparations. Ganzfeld ERG responses to flash stimuli were used to assess retinal function in adult mice. Results: Total retinal thickness is significantly increased in Ts65Dn and Dp(16)1Yey/+ compared with control mice, because of increased thickness of inner retinal layers, including the inner nuclear layer (INL). Increased retinal vessel caliber was found in both chromosomally altered mice when compared with controls. ERG responses in Ts65Dn and Dp(16)1Yey/+ mice showed subtle alterations compared with controls. These, however, seemed to be unrelated to the thickness of the INL, but instead dependent on the anesthetic agent used (ketamine, tribromoethanol, or urethane). Conclusions: We provide evidence of retinal alterations in Ts65Dn and Dp(16)1Yey/+ mice that are similar to those reported in persons with DS. Our ERG results are also a reminder that consideration should be given to the choice of anesthetic agents in such experiments.


Assuntos
Cromossomos de Mamíferos/genética , Modelos Animais de Doenças , Síndrome de Down/fisiopatologia , Retina/fisiopatologia , Animais , Córnea/fisiologia , Cruzamentos Genéticos , Síndrome de Down/genética , Eletrorretinografia , Feminino , Angiofluoresceinografia , Cristalino/fisiologia , Imagem por Ressonância Magnética , Masculino , Camundongos , Camundongos Endogâmicos C3H , Camundongos Endogâmicos C57BL , Midriáticos/administração & dosagem , Estimulação Luminosa , Pupila/efeitos dos fármacos , Vasos Retinianos/fisiopatologia , Microscopia com Lâmpada de Fenda , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia , Campos Visuais/fisiologia
7.
Sci Rep ; 10(1): 7477, 2020 05 04.
Artigo em Inglês | MEDLINE | ID: mdl-32366926

RESUMO

The aim of the present study was to evaluate intra-day (test) and inter-day (re-test) reliability of surface electromyography (sEMG) signals of the masseter and temporal muscles in patients with Down syndrome (DS). We determined the reliability of sEMG variables in 33 patients with DS. EMG signals were recorded at rest as well as during maximum voluntary clenching and maximum habitual intercuspation (MHI). The signals were analyzed considering the amplitude in the root mean square (RMS), mean frequency (MNF), median frequency (MDF) and approximate entropy (ApEn). The intraclass correlation (ICC2,1) for the three trials recorded during MHI in the two sessions (test and retest) revealed excellent intra-session and inter-session reliability (ICC2,1 = 0.76 to 0.97) for all sEMG variables and muscles. In the rest position, excellent reliability was found for RMS and ApEn (ICC2,1 = 0.75 to 1.00) and good to excellent reliability was found for MDF and MNF (ICC2,1 = 0.64 to 0.93). The intra-session (test) and inter-session (re-test) analyses demonstrated the reliability of nonlinear sEMG variables of the masticatory muscles in adults with Down Syndrome.


Assuntos
Síndrome de Down/fisiopatologia , Eletromiografia , Músculo Masseter/fisiopatologia , Contração Muscular , Músculo Temporal/fisiopatologia , Adolescente , Adulto , Feminino , Humanos , Masculino
8.
Proc Natl Acad Sci U S A ; 117(21): 11788-11798, 2020 05 26.
Artigo em Inglês | MEDLINE | ID: mdl-32393630

RESUMO

Down syndrome (DS) is the most common form of intellectual disability. The cognitive alterations in DS are thought to depend on brain regions critical for learning and memory such as the prefrontal cortex (PFC) and the hippocampus (HPC). Neuroimaging studies suggest that increased brain connectivity correlates with lower intelligence quotients (IQ) in individuals with DS; however, its contribution to cognitive impairment is unresolved. We recorded neural activity in the PFC and HPC of the trisomic Ts65Dn mouse model of DS during quiet wakefulness, natural sleep, and the performance of a memory test. During rest, trisomic mice showed increased theta oscillations and cross-frequency coupling in the PFC and HPC while prefrontal-hippocampal synchronization was strengthened, suggesting hypersynchronous local and cross-regional processing. During sleep, slow waves were reduced, and gamma oscillations amplified in Ts65Dn mice, likely reflecting prolonged light sleep. Moreover, hippocampal sharp-wave ripples were disrupted, which may have further contributed to deficient memory consolidation. Memory performance in euploid mice correlated strongly with functional connectivity measures that indicated a hippocampal control over memory acquisition and retrieval at theta and gamma frequencies, respectively. By contrast, trisomic mice exhibited poor memory abilities and disordered prefrontal-hippocampal functional connectivity. Memory performance and key neurophysiological alterations were rescued after 1 month of chronic administration of a green tea extract containing epigallocatequin-3-gallate (EGCG), which improves executive function in young adults with DS and Ts65Dn mice. Our findings suggest that abnormal prefrontal-hippocampal circuit dynamics are candidate neural mechanisms for memory impairment in DS.


Assuntos
Síndrome de Down/fisiopatologia , Hipocampo/fisiologia , Córtex Pré-Frontal/fisiologia , Reconhecimento Psicológico/fisiologia , Animais , Catequina/análogos & derivados , Catequina/farmacologia , Modelos Animais de Doenças , Função Executiva/efeitos dos fármacos , Feminino , Hipocampo/efeitos dos fármacos , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Rede Nervosa/efeitos dos fármacos , Rede Nervosa/fisiologia , Fármacos Neuroprotetores/farmacologia , Córtex Pré-Frontal/efeitos dos fármacos , Reconhecimento Psicológico/efeitos dos fármacos
10.
J Nutr ; 150(6): 1631-1643, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-32243527

RESUMO

BACKGROUND: The cognitive impairments that characterize Down syndrome (DS) have been attributed to brain hypocellularity due to neurogenesis impairment during fetal stages. Thus, enhancing prenatal neurogenesis in DS could prevent or reduce some of the neuromorphological and cognitive defects found in postnatal stages. OBJECTIVES: As fatty acids play a fundamental role in morphogenesis and brain development during fetal stages, in this study, we aimed to enhance neurogenesis and the cognitive abilities of the Ts65Dn (TS) mouse model of DS by administering oleic or linolenic acid. METHODS: In total, 85 pregnant TS females were subcutaneously treated from Embryonic Day (ED) 10 until Postnatal Day (PD) 2 with oleic acid (400 mg/kg), linolenic acid (500 mg/kg), or vehicle. All analyses were performed on their TS and Control (CO) male and female progeny. At PD2, we evaluated the short-term effects of the treatments on neurogenesis, cellularity, and brain weight, in 40 TS and CO pups. A total of 69 TS and CO mice were used to test the long-term effects of the prenatal treatments on cognition from PD30 to PD45, and on neurogenesis, cellularity, and synaptic markers, at PD45. Data were compared by ANOVAs. RESULTS: Prenatal administration of oleic or linolenic acid increased the brain weight (+36.7% and +45%, P < 0.01), the density of BrdU (bromodeoxyuridine)- (+80% and +115%; P < 0.01), and DAPI (4',6-diamidino-2-phenylindole)-positive cells (+64% and +22%, P < 0.05) of PD2 TS mice with respect to the vehicle-treated TS mice. Between PD30 and PD45, TS mice prenatally treated with oleic or linolenic acid showed better cognitive abilities (+28% and +25%, P < 0.01) and a higher density of the postsynaptic marker PSD95 (postsynaptic density protein 95) (+65% and +44%, P < 0.05) than the vehicle-treated TS animals. CONCLUSION: The beneficial cognitive and neuromorphological effects induced by oleic or linolenic acid in TS mice suggest that they could be promising pharmacotherapies for DS-associated cognitive deficits.


Assuntos
Síndrome de Down/fisiopatologia , Exposição Materna , Ácido Oleico/administração & dosagem , Ácido alfa-Linoleico/administração & dosagem , Animais , Peso Corporal/efeitos dos fármacos , Encéfalo/efeitos dos fármacos , Cognição/efeitos dos fármacos , Modelos Animais de Doenças , Síndrome de Down/patologia , Feminino , Camundongos , Camundongos Endogâmicos C3H , Camundongos Endogâmicos C57BL , Camundongos Transgênicos , Neurogênese/efeitos dos fármacos , Ácido Oleico/farmacologia , Tamanho do Órgão/efeitos dos fármacos , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Ácido alfa-Linoleico/farmacologia
11.
Sci Rep ; 10(1): 1683, 2020 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-32015371

RESUMO

Studies have shown that executive function abilities are related and have predictive power over adaptive behaviour in both typical and atypical populations. This study examined the relationship between executive functioning and adaptive behaviour in adolescents with Down syndrome, as it has not been studied before in this population. We propose and test a model of how each core EF (i.e., working memory, inhibition, and flexibility) contributes to each domain of AB (i.e., conceptual, social, and practical). We found that parent reported Conceptual skills were related to working memory, while teacher reported Conceptual and Practical skills were related to inhibition and flexibility. We hypothesise that these findings are related to the different requirements and expectations of the home and school environments: the more predictable home environment requires the adolescent to rely on working memory for his everyday activities, while the changing and challenging school environment requires the inhibition common behaviours and to flexibly change actions to be successful.


Assuntos
Adaptação Psicológica/fisiologia , Síndrome de Down/fisiopatologia , Função Executiva/fisiologia , Logro , Adolescente , Atenção/fisiologia , Criança , Feminino , Humanos , Inibição Psicológica , Masculino , Memória de Curto Prazo/fisiologia , Testes Neuropsicológicos , Instituições Acadêmicas
12.
Sci Rep ; 10(1): 2148, 2020 02 10.
Artigo em Inglês | MEDLINE | ID: mdl-32041972

RESUMO

Down syndrome (DS) is frequently comorbid with congenital heart disease and has recently been shown to reduce the sedative effect of benzodiazepine (BDZ)-class anesthesia but this effect in a clinical setting has not been studied. Therefore, this study compared midazolam sedation after heart surgery in DS and normal children. We retrospectively reviewed patient records in our pediatric intensive care unit (PICU) of pediatric cardiovascular operations between March 2015 and March 2018. We selected five days of continuous post-operative data just after termination of muscle relaxants. Midazolam sedation was estimated by Bayesian inference for generalized linear mixed models. We enrolled 104 patients (average age 26 weeks) of which 16 (15%) had DS. DS patients had a high probability of receiving a higher midazolam dosage and dexmedetomidine dosage over the study period (probability = 0.99, probability = 0.97) while depth of sedation was not different in DS patients (probability = 0.35). Multi regression modeling included severity scores and demographic data showed DS decreases midazolam sedation compared with controls (posterior OR = 1.32, 95% CrI = 1.01-1.75). In conclusion, midazolam dosages should be carefully adjusted as DS significantly decreases midazolam sedative effect in pediatric heart surgery patients.


Assuntos
Síndrome de Down/metabolismo , Cardiopatias Congênitas/metabolismo , Midazolam/farmacologia , Teorema de Bayes , Benzodiazepinas/farmacologia , Sistema Cardiovascular , Sedação Profunda/métodos , Síndrome de Down/fisiopatologia , Feminino , Cardiopatias Congênitas/cirurgia , Humanos , Hipnóticos e Sedativos/farmacologia , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Pediátrica , Tempo de Internação , Masculino , Midazolam/administração & dosagem , Respiração Artificial , Estudos Retrospectivos
13.
Andrologia ; 52(3): e13521, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32003054

RESUMO

Down syndrome is the most common autosomal chromosome anomaly with several medical abnormalities and intellectual disability, occurring in about of 1:1,000 to 1:1,100 infants. Many pregnancies in women with Down syndrome produce children both with normal and with trisomy 21, whereas males are infertile. However, Down syndrome males are not always infertile and this is not global. Here we reported a 36-year-old man with proved nonmosaic trisomy 21 fathered two normal boys. Paternity analysis using 26 microsatellite loci confirmed that Down syndrome male is the biological father of his two normal boys. Serum LH, FSH, testosterone and 17-OH progesterone were all in the normal range in this father with Down syndrome. To the best of our knowledge, this is the second report of one man with Down syndrome who has two normal children in the world. The current study not only supports the rare evidence of the fertility of males with Down syndrome but also highlights the caution in advising people responsible for the care of adults with this condition about possible fertility and transmission of sexual diseases as well.


Assuntos
Androgênios/sangue , Síndrome de Down/fisiopatologia , Fertilidade/fisiologia , Paternidade , Adulto , Androgênios/fisiologia , Cromossomos Humanos Y/genética , Impressões Digitais de DNA , Síndrome de Down/sangue , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Humanos , Cariotipagem , Masculino , Repetições de Microssatélites/genética , Linhagem
14.
Int J Pediatr Otorhinolaryngol ; 133: 109946, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32087479

RESUMO

PURPOSE: The anatomical, physiological, and phenotypic characteristics of children with Down Syndrome results in deviated acoustic and aerodynamic measures in their voice. These deviant vocal presentations may negatively affect the quality of life of children with Down syndrome. The present study aimed to systematically review the available literature on acoustic and aerodynamic voice characteristics of children with Down syndrome. METHOD: A systematic review of studies on acoustic and aerodynamic measures of voice in children with Down Syndrome (using PubMed/MEDLINE, CINAHL, Scopus, ProQuest, Cochrane, Ovid, Science Direct) was carried out. Keywords based on Population-Investigation-Outcome were used to develop search strings. Two authors screened titles and abstracts independently, and appropriate studies were analyzed in detail for data extraction. RESULTS: Out of the 1432 studies, two studies met the inclusion criteria. Different acoustic and aerodynamic measures were employed, such as fundamental frequency, intensity, phonation time, jitter, shimmer and ESGP, MAFR, and LAR. CONCLUSION: Overall, there was a lack of standardized criteria for the evaluation of acoustic and aerodynamic characteristics in the Down syndrome population. Acoustically, there was no significant difference between children with DS and typically developing children. However, aerodynamic studies suggest that there is a significant impairment of glottal valving in children with Down syndrome.


Assuntos
Síndrome de Down/fisiopatologia , Acústica da Fala , Criança , Glote/fisiopatologia , Humanos , Fonação , Qualidade da Voz
15.
Laterality ; 25(2): 177-197, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31294645

RESUMO

Studies of brain lateralization in individuals with non-specific intellectual disability and Down syndrome suggest atypical brain lateralization to speech perception. According to the biological dissociation model, the right hemisphere (RH) mediates speech perception and the left hemisphere (LH) mediates motor control in Down syndrome. The current study aimed to test, for the first time, brain lateralization in both non-specific intellectual disability and Down syndrome, compared to individuals with typical development. Furthermore, bilateral word presentation was utilized to assess interhemispheric communication. Twenty adults with non-specific intellectual disability, 14 adults with Down syndrome, and 30 adults with typical development participated in the study. Participants in the non-specific intellectual disability and Down syndrome groups were trained to perform the task prior to the experiment. The results showed that whereas hemispheric lateralization did not differ between individuals with non-specific intellectual disability and typical development, individuals with DS showed reduced brain lateralization in comparison to adults with typical development. All three groups showed no significant difference between words presented to the LH and bilaterally. Our results also show that individuals with intellectual disabilities can benefit from training programmes and that they may perform equally as fast as their typically developing peers.


Assuntos
Tomada de Decisões/fisiologia , Síndrome de Down/psicologia , Lateralidade Funcional/fisiologia , Deficiência Intelectual/psicologia , Campos Visuais/fisiologia , Adulto , Síndrome de Down/complicações , Síndrome de Down/fisiopatologia , Feminino , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/fisiopatologia , Masculino , Adulto Jovem
16.
Res Dev Disabil ; 96: 103512, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31743853

RESUMO

BACKGROUND: Research conducted with typically developing (TD) infants and children generally indicates that better habitual sleep and sleep after learning are related to enhanced memory. Less is known, however, about associations between sleep and recall memory in children with Down syndrome (DS). AIMS: The present study was conducted to determine whether parent-reported sleep problems were differentially associated with encoding, 1-month delayed recall memory, and forgetting over time in children with DS and those who were TD. METHODS AND PROCEDURES: Ten children with DS (mean age = 33 months, 5 days) and 10 TD children (mean age = 21 months, 6 days) participated in a two-session study. At each session, recall memory was assessed using an elicited imitation paradigm. Immediate imitation was permitted at the first session as an index of encoding, and delayed recall was assessed 1 month later. In addition, parents provided demographic information and reported on child sleep problems. OUTCOMES AND RESULTS: Although parents did not report more frequent sleep problems for children with DS relative to TD children, regression-based moderation analyses revealed that more frequent sleep problems were associated with increased forgetting of individual target actions and their order by children with DS. Evidence of moderation was not found when examining encoding or delayed recall. CONCLUSIONS AND IMPLICATIONS: Although group differences were not found when considering parent-reported sleep problems, more frequent sleep problems were positively associated with increased forgetting by children with DS relative to those who were TD. Although future experimental work is needed to determine causality, these results suggest that improved sleep in children with DS might reduce forgetting, ultimately improving long-term recall memory.


Assuntos
Síndrome de Down/fisiopatologia , Rememoração Mental , Transtornos do Sono-Vigília/fisiopatologia , Estudos de Casos e Controles , Pré-Escolar , Síndrome de Down/psicologia , Feminino , Humanos , Lactente , Masculino , Consolidação da Memória , Transtornos do Sono-Vigília/psicologia
17.
Dev Neurorehabil ; 23(1): 39-49, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31726906

RESUMO

Objective: The aim of the present review was to identify the motor scales currently used to assess individuals with Down Syndrome (DS).Method: PubMed, WOS and BVS databases were systematically searched to identify the most relevant published studies that used motor scales in the evaluation of individuals with DS.Results: Of the 99 studies that met the eligibility criteria in this process, 20 experimental and observational studies were found to fully meet the eligibility criteria.Conclusion: We identified several motor scales including the Alberta Infant Motor Scale (AIMS), Test of Infant Motor Performance (TIMP), BAYLEY, Peabody Gross Motor Scale (PGMS-PDMS-GM), Gross Motor Function Measure (GMFM), Movement Assessment Battery for Children (MABC) and Pediatric Evaluation of Disability Inventory (PEDI).


Assuntos
Síndrome de Down/fisiopatologia , Movimento , Exame Neurológico/normas , Criança , Pré-Escolar , Avaliação da Deficiência , Feminino , Humanos , Lactente , Masculino , Destreza Motora
18.
Res Dev Disabil ; 97: 103549, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31864111

RESUMO

This cross-syndrome study focuses on sleep and its relationship with language development. Children with neurodevelopmental disorders present with language delay. Typical language development is constrained by numerous factors including sleep. Sleep is often disrupted in adolescents/adults with neurodevelopmental disorders. We therefore hypothesised that sleep may be disrupted, and correlate with language development, in infants/toddlers with neurodevelopmental disorders. To test our hypothesis, we obtained sleep and vocabulary size data from 75 infants/toddlers with one of three neurodevelopmental disorders (Down syndrome [DS], fragile X syndrome [FXS], Williams syndrome [WS]). Sleep was indeed disrupted in these children. It was also positively associated with receptive vocabulary size in the infants/toddlers with DS and WS (we could not test the relationship between sleep and language in FXS due to lack of power). We argue that disrupted sleep may be a common occurrence in very young children with neurodevelopmental disorders, and it may relate to their ability to acquire their first language.


Assuntos
Síndrome de Down/fisiopatologia , Síndrome do Cromossomo X Frágil/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Transtornos do Sono-Vigília/fisiopatologia , Síndrome de Williams/fisiopatologia , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Lactente , Desenvolvimento da Linguagem , Masculino , Fenótipo , Sono/fisiologia , Vocabulário
19.
Res Dev Disabil ; 97: 103557, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31874425

RESUMO

BACKGROUND: People with an intellectual disability (ID) are vulnerable to communication impairments, with consequences for employment, education, and social participation. AIMS: To identify the communication skills of a population of adults (40+ years) with ID and explore relationships between individual and environmental factors and communication skills. METHODS AND PROCEDURES: Data from a sample of 601 adults with ID was selected from the Intellectual Disability Supplement to The Irish Longitudinal Study on Ageing (IDS-TILDA) addressing communication characteristics, demographics, co-morbidities, challenging behaviours, and social participation. A multiple regression model and a decision-making tree were built to identify factors related to communication abilities. OUTCOMES AND RESULTS: Overall, 57.9 % of participants experienced communication difficulties, with 23.5 % reporting severe difficulties. Only 75.1 % of participants communicated verbally; more than half found communicating with professionals and non-familiar partners difficult. Level of ID, low social participation, challenging behaviours, and diagnosis of Down syndrome were significantly associated with communication difficulties. CONCLUSIONS AND IMPLICATIONS: Communication difficulties are prevalent in adults with ID and are influenced by complex factors. Interventions to enhance interaction and quality of life of individuals with ID should consider communication opportunities, needs, and barriers.


Assuntos
Transtornos da Comunicação/fisiopatologia , Síndrome de Down/fisiopatologia , Deficiência Intelectual/fisiopatologia , Participação Social , Idoso , Idoso de 80 Anos ou mais , Transtornos da Comunicação/epidemiologia , Síndrome de Down/epidemiologia , Feminino , Lares para Grupos , Humanos , Deficiência Intelectual/epidemiologia , Irlanda/epidemiologia , Masculino , Pessoa de Meia-Idade , Comportamento Problema , Características de Residência/estatística & dados numéricos , Instituições Residenciais , Índice de Gravidade de Doença
20.
Gait Posture ; 76: 311-317, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31887704

RESUMO

BACKGROUND: The Wartenberg pendulum test is a common clinical test that is used to measure stiffness about the knee in persons with and without disabilities such as cerebral palsy and Down syndrome (DS). Adults and adolescents with DS show fewer number of swing cycles and a lower relaxation index than healthy controls. However, it is not clear if children with DS show a similar trend compared to typically developing (TD) children. RESEARCH QUESTION: Was the knee joint kinematics different between children with and without DS during the pendulum test? METHODS: Thirteen children with DS and 13 TD children participated in this study. There were two load conditions: no load (NL) and with ankle load (AL) equal to 2 % of the subject's body weight. Five trials of a pendulum test were collected for each condition. RESULTS: The DS group showed a smaller first flexion excursion, a lower relaxation index, lower mean and peak velocities and accelerations during the first and second flexion and extension, and greater variability of acceleration during the first flexion than the TD group across both load conditions. This suggests that the DS group may have greater stiffness of the knee than the TD group to compensate for joint instability. SIGNIFICANCE: The pendulum test appears to be a valid test to evaluate the passive stiffness of the knee in children with DS. The lower relaxation index in children with DS suggests that larger bursts of quadriceps may be activated during a pendulum test, particularly in the first flexion excursion, to assure the knee joint stability.


Assuntos
Síndrome de Down/complicações , Articulação do Joelho/fisiopatologia , Movimento/fisiologia , Espasticidade Muscular/fisiopatologia , Exame Neurológico/métodos , Músculo Quadríceps/fisiopatologia , Amplitude de Movimento Articular/fisiologia , Fenômenos Biomecânicos , Criança , Síndrome de Down/fisiopatologia , Feminino , Humanos , Masculino , Espasticidade Muscular/diagnóstico , Espasticidade Muscular/etiologia , Valor Preditivo dos Testes
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