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1.
Artigo em Inglês | MEDLINE | ID: mdl-36834000

RESUMO

(1) Background: Post-stroke presents motor function deficits, and one interesting possibility for practicing skills is the concept of bilateral transfer. Additionally, there is evidence that the use of virtual reality is beneficial in improving upper limb function. We aimed to evaluate the transfer of motor performance of post-stroke and control groups in two different environments (real and virtual), as well as bilateral transfer, by changing the practice between paretic and non-paretic upper limbs. (2) Methods: We used a coincident timing task with a virtual (Kinect) or a real device (touch screen) in post-stroke and control groups; both groups practiced with bilateral transference. (3) Results: Were included 136 participants, 82 post-stroke and 54 controls. The control group presented better performance during most parts of the protocol; however, it was more evident when compared with the post-stroke paretic upper limb. We found bilateral transference mainly in Practice 2, with the paretic upper limb using the real interface method (touch screen), but only after Practice 1 with the virtual interface (Kinect), using the non-paretic upper limb. (4) Conclusions: The task with the greatest motor and cognitive demand (virtual-Kinect) provided transfer into the real interface, and bilateral transfer was observed in individuals post-stroke. However, this is more strongly observed when the virtual task was performed using the non-paretic upper limb first.


Assuntos
Reabilitação do Acidente Vascular Cerebral , Acidente Vascular Cerebral , Realidade Virtual , Humanos , Estudos Transversais , Reabilitação do Acidente Vascular Cerebral/métodos , Grupos Controle , Extremidade Superior
2.
Artigo em Inglês | MEDLINE | ID: mdl-36429386

RESUMO

(1) Background: People with ASD commonly present difficulty performing motor skills and a decline in physical activity (PA) level and low enjoyment of PA. We aimed to evaluate whether longitudinal practice of an activity in virtual and real environments improves motor performance and whether this improvement is transferred to a subsequent practice when changing the environment, promoting PA and providing enjoyment; (2) Methods: People with ASD, aged between 10 and 16 years, were included and distributed randomly into two opposite sequences. The participants performed a 10 session protocol, with five sessions practicing in each environment (virtual or real). Heart rate measurement was carried out and an enjoyment scale was applied; (3) Results: 22 participants concluded the protocol. Sequence A (virtual first) presented an improvement in accuracy and precision and transferred this when changing environment; they also had a greater change in heart rate reserve. The majority of participants reported "fun" and "great fun" levels for enjoyment; (4) Conclusions: The virtual reality activity presented a higher level of difficulty, with greater gains in terms of transference to the real environment. Considering PA, our task provided very light to light activity and the majority of participants enjoyed the task.


Assuntos
Transtorno do Espectro Autista , Prazer , Humanos , Criança , Adolescente , Estudos Prospectivos , Exercício Físico , Desempenho Físico Funcional
3.
Biomed Res Int ; 2022: 4439681, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35187164

RESUMO

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease. As a result of the rapid progression and severity of the disease, people with ALS experience loss of functionality and independence. Furthermore, it has already been described presence of autonomic dysfunction. Despite the increasing use of virtual reality (VR) in the treatment of different diseases, the use of virtual reality environment as an intervention program for ALS patients is innovative. The benefits and limitations have not yet been proven. Our objective was to evaluate the autonomic function of individuals with amyotrophic lateral sclerosis throughout the virtual reality task. The analysis of autonomic function was completed before, during, and after the virtual reality task using the upper limbs; also, all steps lasted ten minutes in a sitting position. Heart rate variability (HRV) was taken via the Polar® RS800CX cardiofrequencymeter. The following questionnaire was enforced: Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS) and Fatigue Severity Scale (FSS). Different types of HRV were revealed for the groups, indicating that the ALS group has reduced HRV, with most of the representative indices of the sympathetic nervous system. Besides, the physiological process of reducing parasympathetic activity from rest to VR activity (vagal withdrawal), with reduction in HF (ms2) and an increase in HR from rest to activity, and a further increase throughout recovery, with withdrawal of sympathetic nervous system, occurs just for the control group (CG), with no alterations between rest, activity, and recovery in individuals with ALS. We could conclude that patients with ALS have the reduction of HRV with the sympathetic predominance when equated to the healthy CG. Besides that, the ALS individuals have no capability to adapt the autonomic nervous system when likened to the CG during therapy based on VR and their recovery.


Assuntos
Esclerose Lateral Amiotrófica/fisiopatologia , Sistema de Condução Cardíaco/fisiopatologia , Extremidade Superior/fisiopatologia , Adulto , Idoso , Sistema Nervoso Autônomo/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Índice de Gravidade de Doença , Inquéritos e Questionários , Realidade Virtual
4.
Artigo em Inglês | MEDLINE | ID: mdl-34769586

RESUMO

BACKGROUND: Sedentary lifestyles are increasingly common amongst children, and insufficient physical activity is a global epidemic estimated to contribute to future incapacities and potential deaths. OBJECTIVE: We aimed to increase the amount of evidence concerning the effect of chronic exposure to exercise on heart rate variability in children and adolescents affected by obesity. METHODS: A systematic review commenced following the PRISMA guidelines developed by Web of Science, Virtual Health Library, PubMed, Cochrane Library, Embase, Ovid, Medline Complete, and Scopus using keywords obtained from the Descriptors in Health Sciences and Medical Subject Headlines (MeSH) terms. We considered (1) Population: Pediatric individuals affected by obesity; (2) Intervention: Exercise; (3) Control: Pre-intervention and sedentary; (4) Outcomes: Clearly presented primary parameters; and (5) Studies: Clinical trials, case controls, case reports, and case series. RESULTS: 11 articles were involved and predominantly included procedures observed during approximately 12 weeks with a distribution of three sessions per week, each session being 30-60 min of aerobic exercise; additionally, the exercise grades were typically completed at a percentage of subjects' maximum heart rates. The meta-analyses displayed a significant effect on the domains of time (R-R interval, SDNN, rMSSD), frequency (HF ms2, HF (n.u.), LF/HF), and the non-linear index (SD1). CONCLUSIONS: Chronic exposure to exercise influences heart rate variability in children and adolescents affected by obesity by elevating the variability and parasympathetic activity and improving the sympathetic-vagal balance. Exercises should be recommended for the improvement of cardiac autonomic modulation to prevent the likelihood of further chronic diseases.


Assuntos
Sistema Nervoso Autônomo , Exercício Físico , Adolescente , Criança , Coração , Frequência Cardíaca , Humanos , Obesidade
5.
Medicina (Kaunas) ; 56(3)2020 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-32151106

RESUMO

. Background and Objectives: Cirrhosis is a liver disease that causes about one million deaths annually worldwide. The estimated cirrhosis prevalence ranges from 4.5-9.5% in the general population. Up to 40% of cirrhotic patients are asymptomatic and may be diagnosed late. Studies have described the importance of the functions of the liver and autonomic nervous system (ANS) and their relationship. There is limited information available on non-alcoholic cirrhosis and heart rate variability (HRV), which is a measure of the ANS. This study aimed to evaluate cardiac autonomic modulation through HRV in non-alcoholic cirrhosis individuals reported in previous observational and clinical trial studies. Materials and Methods: We performed a systematic review according to the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) statement using the Medline, Scopus, and Web of Science electronic databases. Five studies were identified and reviewed. Results: HRV was decreased in patients with non-alcoholic cirrhosis, even in the first stage. Conclusions: HRV could be used as a complementary method to improve both the diagnosis and prognosis of non-alcoholic cirrhosis.


Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Frequência Cardíaca , Coração/inervação , Coração/fisiopatologia , Cirrose Hepática/fisiopatologia , Feminino , Humanos , Masculino
6.
Cardiol Young ; 29(10): 1236-1242, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31475643

RESUMO

Changes in cardiac autonomic regulation, expressed by increased sympathetic activity and decreased heart rate variability, have an important relationship with the onset of lethal cardiac phenomena. Therefore, we aimed to evaluate the cardiac autonomic behaviour in young people according to their level of physical activity. Through the International Physical Activity Questionnaire, 55 healthy young non-smokers with no history of previous diseases and whose parents did not suffer from metabolic syndrome were assessed and divided into groups: sedentary (n=12), insufficiently active (n=16), active (n=14), and very active (n=13). We collected respiratory rate, systolic and diastolic blood pressure at rest, and body mass index. Subjects remained supine at rest, and without mental stress for 15 minutes in a controlled environment. Using a cardiofrequency meter (Polar® RS800CX), data were analysed in the time domain, frequency domain, and detrended fluctuation analysis. For the sedentary group, the mean RR and rMSSD were significantly lower, and the insufficiently active group showed higher means, but significantly only for rMSSD. The insufficiently active group showed in the detrended fluctuation analysis that α2 was significantly lower compared with the sedentary, active, and very active groups. We conclude that young, healthy, sedentary individuals present an increased heart rate and that insufficiently active individuals present a decreased fractal correlation and increased parasympathetic activity.


Assuntos
Sistema Nervoso Autônomo/fisiologia , Eletrocardiografia , Exercício Físico/fisiologia , Fractais , Frequência Cardíaca/fisiologia , Adolescente , Adulto , Pressão Sanguínea/fisiologia , Feminino , Voluntários Saudáveis , Humanos , Masculino , Adulto Jovem
7.
Medicine (Baltimore) ; 97(33): e11509, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30113452

RESUMO

OBJECTIVE: To analyze the performance of nurses in the implementation of nursing care systematization (NCS). This study is a descriptive research developed from a qualitative approach. The content analysis (CA) must be developed through 3 chronological poles allowing the researcher to construct an analysis structure that corresponds to the needs of the research and the objectives of the proposed research; The chronological poles of CA are described as: Phase 1-preanalysis, phase 2-exploration of the material: phase 3-treatment of the results obtained and interpretation. Only a semistructured interview will be conducted with the research subjects who meet the inclusion criteria of the study, preserving the identity of the individuals and guaranteeing the right to quit the research at any time during the interview. The Research Ethics Committee of Hospital of the clinics of Acre, Brazil (Amazon region) under the opinion no. 1.460.960 approved this protocol. The clinical protocol was registered in the "Brazilian Registry of Clinical Trials" validated by the World Health Organization, and received clinical trials "RBR-882rg2."


Assuntos
Competência Clínica/normas , Primeiros Socorros/instrumentação , Cuidados de Enfermagem/normas , Desempenho Profissional/organização & administração , Brasil , Primeiros Socorros/métodos , Fidelidade a Diretrizes , Humanos , Cuidados de Enfermagem/ética , Pesquisa Qualitativa
8.
Braz. j. phys. ther. (Impr.) ; 20(5): 471-476, Sept.-Oct. 2016. tab
Artigo em Inglês | LILACS | ID: biblio-828292

RESUMO

ABSTRACT Objective: To determine the responsiveness of the domain climbing up and going down stairs of the Functional Evaluation Scale for Duchenne Muscular Dystrophy (FES-DMD-D3) in a one-year follow-up study. Method: The study included 26 patients with DMD. Effect Size (ES) and Standardized Response Mean (SRM) described the scale’s responsiveness. Results: For climbing up stairs, ES showed that responsiveness was low in the three-month assessments (0.26; 0.35; 0.13; 0.17), low to moderate in the six-month assessments (0.58; 0.48; 0.33), moderate in the nine-month assessments (0.70; 0.68), and high in the 12-month assessment (0.88). SRM showed that responsiveness was low in the three-month assessments (0.29; 0.38; 0.18; and 0.19), low to moderate in the six-month assessments (0.59; 0.51; 0.36), moderate in the nine-month assessments (0.74 and 0.70), and high in the 12-month assessment (0.89). For going down stairs, ES showed that responsiveness was low in the three- and six-month assessments (0.16; 0.25; 0.09; 0.08 and 0.48; 0.35; 0.18, respectively), low to moderate in the nine-month assessments (0.59; 0.44), and moderate in the 12-month assessment (0.71). SRM showed that responsiveness was low in the three- and six-month assessments (0.25; 0.35; 0.12; 0.09 and 0.47; 0.38; 0.21, respectively), low to moderate in the nine-month assessment (0.62; 0.49), and moderate in the 12-month assessment (0.74). Conclusion: Climbing up stairs should be assessed at intervals of nine months or longer, when responsiveness is moderate to high. Going down stairs should be assessed annually because moderate responsiveness was observed in this period.


Assuntos
Humanos , Distrofia Muscular de Duchenne/fisiopatologia , Atividade Motora/fisiologia , Seguimentos , Modalidades de Fisioterapia/normas
9.
Braz J Phys Ther ; 20(5): 471-476, 2016 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-27333479

RESUMO

OBJECTIVE:: To determine the responsiveness of the domain climbing up and going down stairs of the Functional Evaluation Scale for Duchenne Muscular Dystrophy (FES-DMD-D3) in a one-year follow-up study. METHOD:: The study included 26 patients with DMD. Effect Size (ES) and Standardized Response Mean (SRM) described the scale's responsiveness. RESULTS:: For climbing up stairs, ES showed that responsiveness was low in the three-month assessments (0.26; 0.35; 0.13; 0.17), low to moderate in the six-month assessments (0.58; 0.48; 0.33), moderate in the nine-month assessments (0.70; 0.68), and high in the 12-month assessment (0.88). SRM showed that responsiveness was low in the three-month assessments (0.29; 0.38; 0.18; and 0.19), low to moderate in the six-month assessments (0.59; 0.51; 0.36), moderate in the nine-month assessments (0.74 and 0.70), and high in the 12-month assessment (0.89). For going down stairs, ES showed that responsiveness was low in the three- and six-month assessments (0.16; 0.25; 0.09; 0.08 and 0.48; 0.35; 0.18, respectively), low to moderate in the nine-month assessments (0.59; 0.44), and moderate in the 12-month assessment (0.71). SRM showed that responsiveness was low in the three- and six-month assessments (0.25; 0.35; 0.12; 0.09 and 0.47; 0.38; 0.21, respectively), low to moderate in the nine-month assessment (0.62; 0.49), and moderate in the 12-month assessment (0.74). CONCLUSION:: Climbing up stairs should be assessed at intervals of nine months or longer, when responsiveness is moderate to high. Going down stairs should be assessed annually because moderate responsiveness was observed in this period.


Assuntos
Atividade Motora/fisiologia , Distrofia Muscular de Duchenne/fisiopatologia , Seguimentos , Humanos , Modalidades de Fisioterapia/normas
10.
Int Cardiovasc Res J ; 8(3): 105-10, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25177673

RESUMO

BACKGROUND: No clear evidence is available in the literature regarding the acute effect of different styles of music on cardiac autonomic control. OBJECTIVES: The present study aimed to evaluate the acute effects of classical baroque and heavy metal musical auditory stimulation on Heart Rate Variability (HRV) in healthy men. PATIENTS AND METHODS: In this study, HRV was analyzed regarding time (SDNN, RMSSD, NN50, and pNN50) and frequency domain (LF, HF, and LF / HF) in 12 healthy men. HRV was recorded at seated rest for 10 minutes. Subsequently, the participants were exposed to classical baroque or heavy metal music for five minutes through an earphone at seated rest. After exposure to the first song, they remained at rest for five minutes and they were again exposed to classical baroque or heavy metal music. The music sequence was random for each individual. Standard statistical methods were used for calculation of means and standard deviations. Besides, ANOVA and Friedman test were used for parametric and non-parametric distributions, respectively. RESULTS: While listening to heavy metal music, SDNN was reduced compared to the baseline (P = 0.023). In addition, the LF index (ms(2) and nu) was reduced during exposure to both heavy metal and classical baroque musical auditory stimulation compared to the control condition (P = 0.010 and P = 0.048, respectively). However, the HF index (ms(2)) was reduced only during auditory stimulation with music heavy metal (P = 0.01). The LF/HF ratio on the other hand decreased during auditory stimulation with classical baroque music (P = 0.019). CONCLUSIONS: Acute auditory stimulation with the selected heavy metal musical auditory stimulation decreased the sympathetic and parasympathetic modulation on the heart, while exposure to a selected classical baroque music reduced sympathetic regulation on the heart.

11.
Neuropsychiatr Dis Treat ; 10: 613-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24748797

RESUMO

BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is characterized by decreased attention span, impulsiveness, and hyperactivity. Autonomic nervous system imbalance was previously described in this population. We aim to compare the autonomic function of children with ADHD and controls by analyzing heart rate variability (HRV). METHODS: Children rested in supine position with spontaneous breathing for 20 minutes. Heart rate was recorded beat by beat. HRV analysis was performed in the time and frequency domains and Poincaré plot. RESULTS: Twenty-eight children with ADHD (22 boys, aged 9.964 years) and 28 controls (15 boys, age 9.857 years) participated in this study. It was determined that the mean and standard deviation of indexes which indicate parasympathetic activity is higher in children with ADHD than in children without the disorder: high frequency in normalized units, 46.182 (14.159) versus 40.632 (12.247); root mean square of successive differences, 41.821 (17.834) versus 38.150 (18.357); differences between adjacent normal-to-normal intervals greater than 50 milliseconds, 199.75 (144.00) versus 127.46 (102.21) (P<0.05); percentage of differences between adjacent normal-to-normal intervals greater than 50 milliseconds, 23.957 (17.316) versus 16.211 (13.215); standard deviation of instantaneous beat-to-beat interval, 29.586 (12.622) versus 26.989 (12.983). CONCLUSION: Comparison of the autonomic function by analyzing HRV suggests an increase in the activity of the parasympathetic autonomic nervous systems in children with ADHD in relation to the control group.

12.
Noise Health ; 16(68): 57-62, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24583681

RESUMO

It is poor in the literature the behavior of the geometric indices of heart rate variability (HRV) during the musical auditory stimulation. The objective is to investigate the acute effects of classic musical auditory stimulation on the geometric indexes of HRV in women in response to the postural change maneuver (PCM). We evaluated 11 healthy women between 18 and 25 years old. We analyzed the following indices: Triangular index, Triangular interpolation of RR intervals and Poincarι plot (standard deviation of the instantaneous variability of the beat-to beat heart rate [SD1], standard deviation of long-term continuous RR interval variability and Ratio between the short - and long-term variations of RR intervals [SD1/SD2] ratio). HRV was recorded at seated rest for 10 min. The women quickly stood up from a seated position in up to 3 s and remained standing still for 15 min. HRV was recorded at the following periods: Rest, 0-5 min, 5-10 min and 10-15 min during standing. In the second protocol, the subject was exposed to auditory musical stimulation (Pachelbel-Canon in D) for 10 min at seated position before standing position. Shapiro-Wilk to verify normality of data and ANOVA for repeated measures followed by the Bonferroni test for parametric variables and Friedman's followed by the Dunn's posttest for non-parametric distributions. In the first protocol, all indices were reduced at 10-15 min after the volunteers stood up. In the protocol musical auditory stimulation, the SD1 index was reduced at 5-10 min after the volunteers stood up compared with the music period. The SD1/SD2 ratio was decreased at control and music period compared with 5-10 min after the volunteers stood up. Musical auditory stimulation attenuates the cardiac autonomic responses to the PCM.


Assuntos
Estimulação Acústica , Frequência Cardíaca/fisiologia , Música , Postura/fisiologia , Adolescente , Adulto , Análise de Variância , Eletrocardiografia , Feminino , Humanos , Adulto Jovem
13.
Front Psychol ; 5: 1454, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25566134

RESUMO

The provision of feedback is a crucial factor for the evolution of the learner's performance. It is known that the knowledge of performance has the function of guiding the learner's attention to critical aspects of the movement pattern. The objective of this study was to examine the effect of frequency of knowledge of performance (KP) during the acquisition of the basketball free throw in older persons. Sixty active individuals (men and women) aged 60-69 years of age, divided into three experimental groups received KP in 100, 66, and 33% of their attempts during three practice sessions totaling 90 trials. The task was the basketball free throw. Volunteers were asked to conduct tests of immediate retention, 24 h retention, and 24 h transfer test, after the last practice session. During the acquisition phase, the volunteers received KP on the movement pattern on the previous attempt, which was obtained from a qualitative hierarchical checklist of the free throw (14 items). Sessions were recorded in order to confirm whether volunteers were able to score throughout sessions. ANOVA indicated that all individuals showed an improved performance in the retention and transfer tests. But the KP frequency of 66% was superior in both qualitative (movement pattern) and quantitative (score) measurements throughout the trials (p ≤ 0.05). In conclusion older persons seem to need an optimal KP frequency supply during the learning process.

14.
Int Arch Med ; 6(1): 11, 2013 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-23497654

RESUMO

BACKGROUND: The literature has already demonstrated that cigarette influences the cardiovascular system. In this study, we performed a literature review in order to investigate the relationship between sidestream cigarette smoke (SSCS) and cardiac autonomic regulation. METHODS: Searches were performed on Medline, SciELO, Lilacs and Cochrane databases using the crossing between the key-words: "cigarette smoking", "autonomic nervous system", "air pollution" and "heart rate variability". RESULTS: The selected studies indicated that SSCS exposure affects the sympathetic and parasympathetic responses to changes in arterial blood pressure. Moreover, heart rate responses to environmental tobacco smoke are increased in smokers compared to non-smokers. The mechanism involved on this process suggest increased oxidative stress in brainstem areas that regulate the cardiovascular system. CONCLUSION: Further studies are necessary to add new elements in the literature to improve new therapies to treat cardiovascular disorders in subjects exposed to sidestream cigarette smoke.

15.
Rev. bras. crescimento desenvolv. hum ; 18(2): 163-169, ago. 2008. tab
Artigo em Português | LILACS | ID: lil-510933

RESUMO

INTRODUÇÃO: Paralisia Cerebral é uma desordem do movimento e da postura, persistente, porém variável, surgida nos primeiros anos de vida pela interferência no desenvolvimento do sistema nervoso central, causada por uma desordem cerebral não progressiva ¹. Tem como principal característica a inabilidade do corpo em enfrentar com eficiência os efeitos da gravidade. Devido às alterações motoras é importante a participação do Fisioterapeuta na equipe interdisciplinar. Para tanto, deve-se realizar avaliações das dificuldades na paralisia cerebral para possibilitar uma melhor organização do programa fisioterapêutico. OBJETIVO: Avaliar as habilidades funcionais e a necessidade de auxílio do cuidador em crianças com até 18 meses de idade, e com paralisia cerebral. Método: Foram avaliadas 7 crianças com diagnóstico médico de paralisia cerebral, entre 10 e 18 meses de idade, com média de idade correspondente a um ano e dois meses. A avaliação ocorreu por meio do P.E.D.I. e foram analisados os escores bruto e normativo nas áreas de habilidades funcionais e assistência do cuidador. RESULTADOS: Verificou-se maior dificuldade nas crianças com paralisia cerebral na área de mobilidade e, desta forma, a necessidade de maior assistência em movimentos e posturas. CONCLUSÃO: Apesar das alterações nos componentes neuromotores observadas em crianças de risco, as mesmas acabam desenvolvendo estratégias motoras que lhes permitem desempenhar atividades funcionais, como por exemplo as situações citadas na área de auto-cuidado. Os cuidadores orientados pelo fisioterapeuta podem propor facilitações que beneficiarão a função da criança, sua participação na atividade e desenvolvimento da comunicação.


INTRODUCTION: Cerebral Palsy is a movement and posture disorder caused by events occurring during pregnancy, childbirth, the neonatal period or during the first two years of life. Its main characteristic is the body's inability to efficiently face the effects of gravity. Due to the motor alterations, the participation of the physiotherapist in the interdisciplinary team is important. Assessment of the difficulties in cerebral palsy should take place to enable a better organization of the physiotherapeutic program. OBJETIVE: To analyze the constraints on the functional abilities and the assistance needs of children with cerebral palsy up to 18 months of age. METHODS: Seven children with a medical diagnosis of cerebral palsy, with ages between 10 and 18 months, mean age corresponding to one year and two months, were assessed. The assessment occurred by means of P.E.D.I. and the gross and normative scores in the areas of functional abilities and caregiver's assistance were analyzed. Results: The mobility area was the one in which the children with cerebral palsy had more difficulties; thus, they needed more assistance in movements and postures. CONCLUSION: In spite of the alterations in the neuromotor components observed in risk children, the same children end up developing motor strategies that allow them to perform functional activities; for example, the situations cited in the self-care area. The caregivers, guided by the physiotherapist, can propose the means that will benefit the child's function, his/her participation in the activity and communication development.


Assuntos
Humanos , Masculino , Feminino , Criança , Sistema Nervoso Central , Criança , Desenvolvimento Infantil , Intervenção Educacional Precoce , Fisioterapeutas , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/terapia , Cuidadores , Transtornos das Habilidades Motoras , Avaliação de Processos e Resultados em Cuidados de Saúde
16.
Eur J Hum Genet ; 15(12): 1276-9, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17895902

RESUMO

SPG4 mutations are the most frequent cause of autosomal-dominant hereditary spastic paraplegia (HSP). SPG4 HSP is characterized by large inter- and intrafamilial variability in age at onset (AAO) and disease severity. The broad spectrum of SPG4 mutations has recently been further extended by the finding of large genomic deletions in SPG4-linked pedigrees negative for 'small' mutations. We had previously reported a very large pedigree, linked to the SPG4 locus with many affected members, which showed gender difference in clinical manifestation. Screening for copy number aberrations revealed the first case of a multi-exonic duplication (exon10_12dup) in the SPG4 gene. The mutation leads to a premature stop codon, suggesting that the protein product is not functional. The analysis of 30 individuals who carry the mutation showed that males have on average an earlier AAO and are more severely affected. The present family suggests that this HSP pathogenesis may be modulated by factors related to individual background and gender as observed for other autosomal dominant conditions, such as facio-scapulohumeral muscular dystrophy or amyloidosis. Understanding why some individuals, particularly women, are 'partially protected' from the effects of this and other pathogenic mutations is of utmost importance.


Assuntos
Adenosina Trifosfatases/genética , Éxons/genética , Duplicação Gênica , Linhagem , Penetrância , Caracteres Sexuais , Paraplegia Espástica Hereditária/genética , Adolescente , Adulto , Brasil , Feminino , Heterozigoto , Humanos , Lactente , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Mutação/genética , Espastina
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