Protocolo de exercícios terapêuticos em grupo para pessoas com doença de Alzheimer / Protocol of group therapeutic exercises of people with Alzheimer's Disease

O envelhecimento gera diversas alterações biológicas que dão origens a condições de saúde como a Doença de Alzheimer (DA) que pode prejudicar a funcionalidade dos idosos. OBJETIVO: Verificar o efeito de um programa de exercícios fisioterapêuticos sobre a saúde dos idosos com DA. MÉTODOS: Foi realizado um estudo longitudinal, em idosos com DA frequentadores de um Centro-Dia. Os participantes foram selecionados por meio de características demográficos e condições de saúde. Para análise das variáveis de desfecho foram avaliados pré e pós intervenção com os testes: Timed Up and Go (TUG), Caixa e Blocos, Escala de Berg e Alcance funcional em pé e sentado. Em seguida foram submetidos a um protocolo de intervenção em grupo dividido em três fases: fase preparatória, fase ativa e fase de desaquecimento. Utilizou-se para análise estatística o Teste T-Student Pareado e a correlação de Pearson. Foi estabelecido Intervalo de Confiança (IC) e p<0,05. RESULTADOS: Foram realizadas 28 sessões com 11 idosas, com idade média de 88 (± 4) anos, frequência semanal no Centro Dia de 4 (± 1) vezes e pontuação média no MEEM de 12 (± 5). Obtiveram significância estatística no teste Alcance Sentado pré 22,3 (±10,4) e pós 28,2 (±9,0), com p = 0,003 e, no teste de TUG pré 16,9 (±5,8) e pós 2,5 (± 3,9), com p = 0,009. Além disso, o teste Berg e TUG apresentaram correlação negativa, classificada como boa p= 0,020. CONCLUSÃO: O protocolo proposto contribuiu para melhora na saúde funcional observadas no aumento do alcance funcional e da mobilidade das idosas.

Aging generates several biological changes that give rise to diseases such as Alzheimer's Disease (AD) that can result in the functionality of the elderly. OBJECTIVE: To verify the effect of a physical therapy exercise program on the health of elderly people with AD. MATERIALS AND METHODS: A longitudinal study was carried out in elderly people with AD who attended a Day Care Center. Participants were selected using demographic characteristics and health conditions. For the analysis of the outcome variables, the pre and post intervention were evaluated with the tests: Timed Up and Go (TUG), Box and Blocks, Berg Scale and Functional reach in standing and sitting. Then they underwent a group intervention protocol divided into three phases: the preparatory phase, the active phase and the cooling down phase. Paired T-Student Test and Pearson's correlation were used for statistical analysis. Confidence Interval (CI) was established and p <0.05. RESULTS: We performed 28 sessions, with 11 elderly women, mean age of 88 (± 4) years, weekly attendance at the Center on Day 4 (± 1) times and mean score on the MMSE of 12 (± 5). They obtained statistical significance in the Seated Reach test pre 22.3 (± 10.4) and post 28.2 (± 9.0), with p = 0.003 and, in the TUG test pre 16.9 (± 5.8) and powders 2.5 (± 3.9), with p = 0.009. In addition, the Berg and TUG test showed a negative correlation, classified as good p = 0.020. CONCLUSION: The proposed protocol contributed to the improvement in functional health observed in the increase in the functional range and mobility of the elderly.

Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.

BACKGROUND: Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt. METHODS: This is a prospective longitudinal study performed with 47 patients affected with Spoan syndrome of seven communities of Rio Grande do Norte (Brazil) to investigate changes in motor function based on comparative data obtained from a 10-year follow-up. RESULTS: The mean age of the participants was 47.21 ± 12.42 years old, and the mean age at loss of ambulation and hand function were 10.78 ± 5.55 and 33.58 ± 17.47 years old, respectively. Spearman's correlation analysis between the score on the Modified Barthel Index and the investigated variables evidenced statistical significance for age (p < 0.001) and right- and left-hand grip strength (p = 0.042 and p = 0.021, respectively). Statistical significance was not evidenced for the remainder of the variables, including age at onset of symptoms (p = 0.634), age at loss of ambulation (p = 0.664) and age at loss of hand function (p = 0.118). CONCLUSIONS: Our analysis allows asserting that the participants exhibited slight dependence until age 35. The greatest losses occurred from ages 35 to 41, and starting at 50, practically all patients become completely dependent. These findings are relevant for determining the prognosis as well as suitable treatment, rehabilitation and assistive technology for these individuals.

Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV.

We aimed to evaluate the functional abilities of persons with Rett syndrome (RTT) in stages III and IV. The group consisted of 60 females who had been diagnosed with RTT: 38 in stage III, mean age (years) of 9.14, with a standard deviation of 5.84 (minimum 2.2/maximum 26.4); and 22 in stage IV, mean age of 12.45, with a standard deviation of 6.17 (minimum 5.3/maximum 26.9). The evaluation was made using the Pediatric Evaluation of Disability Inventory, which has 197 items in the areas of self-care, mobility, and social function. The results showed that in the area of self-care, stage III and stage IV RTT persons had a level of 24.12 and 18.36 (P=0.002), respectively. In the area of mobility, stage III had 37.22 and stage IV had 14.64 (P<0.001), while in the area of social function, stage III had 17.72 and stage IV had 12.14 (P=0.016). In conclusion, although persons with stage III RTT have better functional abilities when compared with stage IV, the areas of mobility, self-care, and social function are quite affected, which shows a great functional dependency and need for help in basic activities of daily life.

Desenvolvimento do processamento sensorial / Sensory processing development

Neste artigo, apresenta-se o processamento sensorial no decorrer do desenvolvimento típico do ser humano, e sua influência nas aquisições de habilidades e capacidades para aprendizagem...(AU)

Sensory processing along the typical human development as well as its influences on the abilities and capabilities for learning are presented and discussed in this paper...(AU)

Desenvolvimento do processamento sensorial / Sensory processing development

Neste artigo, apresenta-se o processamento sensorial no decorrer do desenvolvimento típico do ser humano, e sua influência nas aquisições de habilidades e capacidades para aprendizagem...

Sensory processing along the typical human development as well as its influences on the abilities and capabilities for learning are presented and discussed in this paper...

Habilidade funcional e assistência do cuidador na síndrome de Rett / Functional abilities and caregiver assistance in Rett syndrome

A Síndrome de Rett (SR) é uma desordem neurológica caracterizada por incapacidades cognitivas, disfunções comunicativas, movimentos estereotipados e alterações no crescimento, que afeta quase exclusivamente o sexo feminino. Devido às alterações cognitivas e motoras, é importante a verificação da necessidade de assistência por parte do cuidador de pacientes com SR. Este trabalho teve como objetivo apresentar a correlação entre as habilidades funcionais de pacientes com SR e o auxílio oferecido pelo cuidador em tarefas do dia a dia. Para tanto, aplicou-se o Inventário de Avaliação Pediátrica de Incapacidade (PEDI) em 64 pacientes com SR. Utilizando-se os valores ponderados de 0 a 100 nas áreas de habilidade funcional e necessidade de assistência do cuidador, verificou-se que a função social foi a de pior desempenho e que mais necessitou de auxílio do cuidador, seguida pela área de autocuidado e mobilidade. Na área de mobilidade, o desempenho foi significativamente maior demonstrando, também, que é a área com menor necessidade de auxílio por parte do cuidador. Verificou-se que a SR causa grande incapacidade nas atividades do dia a dia, sendo que a área da função social é a mais comprometida, na qual o paciente necessita de mais auxílio do cuidador. (AU)

Rett syndrome (RS) is a neurodevelopmental disorder characterized by cognitive impairment, communication dysfunction, stereotypic movements, and growth failure. Due to cognitive and motor alterations, it is important to verify the needs supported by caregivers for RS patients. This work presents the functional abilities of patients with RS and the support offered by the caregivers in diary tasks. The Pediatric Evaluation of Disability Inventory (PEDI) was applied to 64 RS patients. Considering values from 0 to 100 in the areas of functional ability and support needs, social function was the worst performance requiring more support, followed by the areas of self-care and mobility. In the area of mobility, the performance was significantly better, demonstrating the need for less support by the caregiver. RS causes a great incapacity in diary activities, and social function is the most compromised, requiring more persistent support by caregivers. (AU)

Habilidade funcional e assistência do cuidador na síndrome de Rett / Functional abilities and caregiver assistance in Rett syndrome

A Síndrome de Rett (SR) é uma desordem neurológica caracterizada por incapacidades cognitivas, disfunções comunicativas, movimentos estereotipados e alterações no crescimento, que afeta quase exclusivamente o sexo feminino. Devido às alterações cognitivas e motoras, é importante a verificação da necessidade de assistência por parte do cuidador de pacientes com SR. Este trabalho teve como objetivo apresentar a correlação entre as habilidades funcionais de pacientes com SR e o auxílio oferecido pelo cuidador em tarefas do dia a dia. Para tanto, aplicou-se o Inventário de Avaliação Pediátrica de Incapacidade (PEDI) em 64 pacientes com SR. Utilizando-se os valores ponderados de 0 a 100 nas áreas de habilidade funcional e necessidade de assistência do cuidador, verificou-se que a função social foi a de pior desempenho e que mais necessitou de auxílio do cuidador, seguida pela área de autocuidado e mobilidade. Na área de mobilidade, o desempenho foi significativamente maior demonstrando, também, que é a área com menor necessidade de auxílio por parte do cuidador. Verificou-se que a SR causa grande incapacidade nas atividades do dia a dia, sendo que a área da função social é a mais comprometida, na qual o paciente necessita de mais auxílio do cuidador.

Rett syndrome (RS) is a neurodevelopmental disorder characterized by cognitive impairment, communication dysfunction, stereotypic movements, and growth failure. Due to cognitive and motor alterations, it is important to verify the needs supported by caregivers for RS patients. This work presents the functional abilities of patients with RS and the support offered by the caregivers in diary tasks. The Pediatric Evaluation of Disability Inventory (PEDI) was applied to 64 RS patients. Considering values from 0 to 100 in the areas of functional ability and support needs, social function was the worst performance requiring more support, followed by the areas of self-care and mobility. In the area of mobility, the performance was significantly better, demonstrating the need for less support by the caregiver. RS causes a great incapacity in diary activities, and social function is the most compromised, requiring more persistent support by caregivers.

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).

Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61 individuals (age 5-72 years, 42 females) affected by SPOAN, a comprehensive motor and functional evaluation was performed, using modified Barthel index, modified Ashworth scale, hand grip strength measured with a hydraulic dynamometer and two hereditary spastic paraplegia scales. Modified Barthel index, which evaluate several functional aspects, was more sensitive to disclose disease progression than the spastic paraplegia scales. Spasticity showed a bimodal distribution, with both grades 1 (minimum) and 4 (maximum). Hand grip strength showed a moderate inverse correlation with age. Combination of early onset spastic paraplegia and progressive polyneuropathy make SPOAN disability overwhelming.

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN) / Avaliação motora e funcional de pacientes com paraplegia espástica, atrofia óptica e neuropatia (SPOAN)

Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61 individuals (age 5-72 years, 42 females) affected by SPOAN, a comprehensive motor and functional evaluation was performed, using modified Barthel index, modified Ashworth scale, hand grip strength measured with a hydraulic dynamometer and two hereditary spastic paraplegia scales. Modified Barthel index, which evaluate several functional aspects, was more sensitive to disclose disease progression than the spastic paraplegia scales. Spasticity showed a bimodal distribution, with both grades 1 (minimum) and 4 (maximum). Hand grip strength showed a moderate inverse correlation with age. Combination of early onset spastic paraplegia and progressive polyneuropathy make SPOAN disability overwhelming.

A paraplegia espástica, atrofia óptica e neuropatia (SPOAN) é uma forma complicada de paraplegia espástica de herança autossômica recessiva, caracterizada por atrofia óptica congênita, paraplegia espástica progressiva de início na infância e neuropatia periférica. Este estudo avaliou o desempenho motor e funcional de 61 indivíduos com SPOAN (5 a 72 anos), por meio do índice de Barthel modificado, a escala modificada de Ashworth, da avaliação da força de preensão das mãos com dinamômetro hidráulico de Jamar e escalas de paraplegia espástica hereditária. O índice de Barthel modificado, que investiga aspectos funcionais, mostrou-se mais sensível para avaliar a progressão da doença do que as escalas de paraplegia espástica. A espasticidade apresentou distribuição bimodal, com o grau 1 (mínimo) e 4 (máximo). A força de preensão mostrou correlação inversa moderada com a idade. A combinação de paraplegia espástica de início precoce com polineuropatia progressiva faz da SPOAN uma condição incapacitante.

Caracterização das habilidades funcionais na síndrome de Rett / Characterization of functional abilities in Rett syndrome

O objetivo deste estudo foi identificar as áreas de maior comprometimento nas habilidades funcionais na síndrome de Rett (SR). Foram avaliadas 64 pacientes que preenchiam os critérios para a forma clássica da doença, com idade entre 2 e 26 anos. Foi aplicado o Inventário de avaliação pediátrica de incapacidade (PEDI) que contém 197 itens nas áreas de autocuidado, mobilidade e função social. Dentre as 73 atividades da área de autocuidado, 52 (71,2%) não foram realizadas por qualquer paciente; na mobilidade, dentre as 59 atividades propostas, 8 (13,5%); e na área de função social, dentre as 65 atividades, 50 (76,9%) não foram realizadas por paciente alguma. O desempenho médio ajustado em escala de 0 a 100 para a área de autocuidado foi de 8,9/100, variando de 0 a 19; na área de mobilidade, foi de 30,2/100, variando de 1 a 44; e na de função social, 5,2/100, com variação de 0 a 14. Foi possível verificar fortes correlações entre a área de autocuidado e as de mobilidade e função social; no entanto, entre as áreas de mobilidade e função social não foi detectada correlação significativa. Infelizmente, devido à gravidade da síndrome, o menor comprometimento da mobilidade, comparado ao das áreas de autocuidado e função social, não traz vantagens adaptativas ou maior independência às pacientes com SR...

The purpose of this study was to determine the areas of greater impairment in functional abilities of patients with Rett syndrome. Sixty-four patients aged 2 to 26 years old, who filled out criteria for the classic form of the disease, were assessed by the Pediatric Evaluation of Disability Inventory (PEDI) of which 197 items are grouped in the areas of self-care, mobility, and social function. From the 73 activities in self-care area, 52 (71.2%) were not accomplished by any patient; in mobility area, among the 59 proposed activities, 8 (13.5%); and in social function area, from 65 activities, 50 (76.9%) could not be accomplished. Adjusted mean results in a 0-to-100 scale were: self-care, 8.9/100, varying from 0 to 19; mobility, 30.2/ 100, varying from 1 to 44; and social function, 5.2/100, varying from 0 to 14. Strong correlations were found between self-care area and mobility and social function areas, but no significant correlation between the latter. Unfortunately, due to the serious impairment of the disease, the fact that mobility is affected to a lesser degree, as compared to self-care and social function, does not bring Rett syndrome patients any adaptive advantage nor greater independence...

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.

SPOAN is an autosomal recessive neurodegenerative disorder which was recently characterized by our group in a large inbred Brazilian family with 25 affected individuals. This condition is clinically defined by: 1. congenital optic atrophy; 2. progressive spastic paraplegia with onset in infancy; and 3. progressive motor and sensory axonal neuropathy. Overall, we are now aware of 68 SPOAN patients (45 females and 23 males, with age ranging from 5 to 72 years), 44 of which are presented here for the first time. They were all born in the same geographic micro region. Those 68 patients belong to 43 sibships, 40 of which exhibit parental consanguinity. Sixty-one patients were fully clinically evaluated and 64 were included in the genetic investigation. All molecularly studied patients are homozygotes for D11S1889 at 11q13. This enabled us to reduce the critical region for the SPOAN gene from 4.8 to 2.3 Mb, with a maximum two point lod score of 33.2 (with marker D11S987) and of 27.0 (with marker D11S1889). Three genes located in this newly defined critical region were sequenced, but no pathogenic mutation was detected. The gene responsible for SPOAN remains elusive.

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

We describe an apparently new genetic syndrome in six members of a family living in a remote area in Northeastern Brazil. This syndrome comprises: short stature due to a marked decrease in the length of the lower limbs (predominantly mesomelic with fibular agenesis/marked hypoplasia), grossly malformed/deformed clubfeet with severe oligodactyly, upper limbs with acromial dimples and variable motion limitation of the forearms and/or hands, severe nail hypoplasia/anonychia sometimes associated with mild brachydactyly and occasionally with pre-axial polydactyly. This syndrome is apparently distinct from the syndrome of brachydactyly-ectrodactyly with fibular aplasia or hypoplasia (OMIM 113310), the syndrome of fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly (OMIM 228930), and from other previously described conditions exhibiting fibular agenesis/hypoplasia.

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

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.

Impacto da doença em portadores de síndrome de rett / Disease impact on rett syndrome patients

O atendimento clínico e o cuidado com pacientes com Síndrome de Rett (SR) não são fáceis para profissionais e familiares. As alterações motoras e cognitivas exigem dedicação muito grande, sendo que o conhecimento das complicações naturais da doença e essencial para estabelecer com sucesso um programa de reabilitação realístico. O objetivo deste estudo e avaliar, em pacientes com SR, as habilidades relacionadas com autocuidado, mobilidade e função social. Para tanto, utilizou-se o Inventário de Avaliação Pediátrico de Disfunção (PEDI), que pontua o desempenho em diversas áreas, de tal forma que, quanto maior a pontuação, melhor o desempenho. Entre nove portadoras de SR avaliadas, a função social apresentou a menor pontuação (média de 5,47 pontos), seguida pelo autocuidado (média de 12,48); por sua vez, o item de maior habilidade funcional foi o de mobilidade: 45,38 pontos.(AU)

Taking care of Rett syndrome (RS) patients is not an easy task for families and health professionals. Cognitive and motor dysfunction typical of RS is very demanding, and knowledge of natural history and complications of this condition is essential for establishing a successful and realistic rehabilitation program. The aim of this study is to evaluate in RS patients abilities related to self-care, mobility and social interaction. For this assessment, Pediatric Evaluation of Disability Inventory (PEDI) was used to score performance in several areas; larger the score, better the performance. In nine studied SR patients, social interaction got lower punctuation (average of 5.47), followed by self-care (average 12.48); on the other hand, better performance was achieved in mobility: in average, 45.38 points.(AU)

Impacto da doença em portadores de síndrome de rett / Disease impact on rett syndrome patients

O atendimento clínico e o cuidado com pacientes com Síndrome de Rett (SR) não são fáceis para profissionais e familiares. As alterações motoras e cognitivas exigem dedicação muito grande, sendo que o conhecimento das complicações naturais da doença e essencial para estabelecer com sucesso um programa de reabilitação realístico. O objetivo deste estudo e avaliar, em pacientes com SR, as habilidades relacionadas com autocuidado, mobilidade e função social. Para tanto, utilizou-se o Inventário de Avaliação Pediátrico de Disfunção (PEDI), que pontua o desempenho em diversas áreas, de tal forma que, quanto maior a pontuação, melhor o desempenho. Entre nove portadoras de SR avaliadas, a função social apresentou a menor pontuação (média de 5,47 pontos), seguida pelo autocuidado (média de 12,48); por sua vez, o item de maior habilidade funcional foi o de mobilidade: 45,38 pontos.

Taking care of Rett syndrome (RS) patients is not an easy task for families and health professionals. Cognitive and motor dysfunction typical of RS is very demanding, and knowledge of natural history and complications of this condition is essential for establishing a successful and realistic rehabilitation program. The aim of this study is to evaluate in RS patients abilities related to self-care, mobility and social interaction. For this assessment, Pediatric Evaluation of Disability Inventory (PEDI) was used to score performance in several areas; larger the score, better the performance. In nine studied SR patients, social interaction got lower punctuation (average of 5.47), followed by self-care (average 12.48); on the other hand, better performance was achieved in mobility: in average, 45.38 points.