RESUMO
In recent years, significant progress has been made in 5q Spinal Muscular Atrophy therapeutics, emphasizing the importance of early diagnosis and intervention for better clinical outcomes. Characterized by spinal cord motor neuron degeneration, 5q-SMA leads to muscle weakness, swallowing difficulties, respiratory insufficiency, and skeletal deformities. Recognizing the pre-symptomatic phases supported by screening and confirmatory genetic tests is crucial for early diagnosis. This work addresses key considerations in implementing 5q-SMA screening within the Brazilian National Newborn Screening Program and explores Brazil's unique challenges and opportunities, including genetic tests, time-to-patient referral to specialized centers, program follow-up, and treatment algorithms. We aim to guide healthcare professionals and policymakers, facilitating global discussions, including Latin American countries, and knowledge-sharing on this critical subject to improve the care for newborns identified with 5q SMA.
Assuntos
Atrofia Muscular Espinal , Triagem Neonatal , Humanos , Recém-Nascido , Triagem Neonatal/métodos , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/terapia , Brasil , Testes Genéticos/métodos , Diagnóstico Precoce , Assistência ao Paciente/métodos , Atrofias Musculares Espinais da Infância/diagnóstico , Atrofias Musculares Espinais da Infância/genética , Atrofias Musculares Espinais da Infância/terapiaRESUMO
Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness, ventilatory failure, and reduced survival. Onasemnogene abeparvovec is the first gene replacement therapy (GT) approved to treat this condition. An observational retrospective study was conducted to assess adverse events and efficacy of GT in SMA patients. Forty-one patients with SMA (58.5% females and 80.1% SMA type 1) were included. The mean age at GT dosing was 18 (±6.4) months. Thirty-six patients (87.8%) were under previous treatment with nusinersen, and 10 (24.4%) continued nusinersen after GT. Mean CHOP-INTEND increased 13 points after 6 months and this finding did not differ between groups according to nusinersen maintenance after GT (p = 0.949). Among SMA type 1 patients, 14 (46.6%) reached the ability to sit alone. Liver transaminases elevation at least two times higher than the upper limit of normal value occurred in 29 (70.7%) patients. Thrombocytopenia occurred in 13 (31.7%) patients, and one presented thrombotic microangiopathy. Older age (>2 years) was associated with more prolonged use of corticosteroids (p = 0.021). GT is effective in SMA patients, combined nusinersen after GT did not appear to add gain in motor function and older age is associated with prolonged corticosteroid use.
Assuntos
Terapia Genética , Oligonucleotídeos , Humanos , Feminino , Masculino , Terapia Genética/métodos , Estudos Retrospectivos , Oligonucleotídeos/uso terapêutico , Lactente , Brasil , Atrofia Muscular Espinal/terapia , Atrofia Muscular Espinal/genética , Resultado do Tratamento , Pré-Escolar , Atrofias Musculares Espinais da Infância/genética , Atrofias Musculares Espinais da Infância/terapia , Produtos Biológicos/uso terapêutico , Proteínas Recombinantes de FusãoRESUMO
Onasemnogene abeparvovec treats spinal muscular atrophy by delivering a functional SMN1 gene. Necrotizing enterocolitis typically occurs in preterm infants. We report 2 term infants diagnosed with spinal muscular atrophy who presented with necrotizing enterocolitis after onasemnogene abeparvovec infusion. We discuss potential etiologies and propose monitoring for necrotizing enterocolitis after onasemnogene abeparvovec therapy.
Assuntos
Enterocolite Necrosante , Doenças Fetais , Doenças do Recém-Nascido , Atrofia Muscular Espinal , Atrofias Musculares Espinais da Infância , Lactente , Feminino , Recém-Nascido , Humanos , Enterocolite Necrosante/diagnóstico , Enterocolite Necrosante/etiologia , Enterocolite Necrosante/terapia , Terapia Genética , Recém-Nascido Prematuro , Atrofia Muscular Espinal/genética , Doenças do Recém-Nascido/terapia , Atrofias Musculares Espinais da Infância/terapiaRESUMO
Resumo Este estudo narra a experiência de uma psicóloga em intervenção interdisciplinar realizada com uma criança hospitalizada com condições crônicas complexas de saúde, diagnosticada com amiotrofia muscular espinhal tipo I. A experiência foi vivenciada em conjunto com a terapia ocupacional e o relato foi estruturado a partir do material clínico registrado em diário de campo pela psicóloga da dupla, durante as sessões semanais ao longo de dois anos de acompanhamento. A experiência trouxe desafios e crescimento pessoal à psicóloga, autora deste estudo, bem como à paciente, por meio de atividades lúdicas adaptadas às suas necessidades, ampliando o cuidado para além da dimensão técnica e tecnológica, que são importantes para a garantia do funcionamento orgânico, embora não suficientes para uma qualidade de vida minimamente satisfatória.
Abstract This study narrates the experience of a psychologist in an interdisciplinary intervention carried out with a hospitalized child with Complex Chronic Conditions, diagnosed with Spinal Muscular Amyotrophy Type I. The intervention took place in conjunction with occupational therapy and the report was structured based on clinical material recorded on the psychologist's fieldnotes, during weekly sessions over two years of monitoring. The experience brought challenges and personal growth to the psychologist, author of this study, as well as to the patient, by means of playful activities adapted to her needs, expanding care beyond the technical and technological dimension-which are important to guarantee organic functioning, although insufficient for a minimally satisfactory quality of life.
Résumé Cette étude raconte l'expérience d'une psychologue dans une intervention interdisciplinaire menée auprès d'un enfant hospitalisé atteint de maladies chroniques complexes, diagnostiqué avec une amyotrophie musculaire spinale de type I. L'intervention a eu lieu en conjonction avec l'ergothérapie et le rapport a été structuré à partir du matériel clinique enregistré par le psychologue dans un journal de terrain, au cours de séances hebdomadaires pendant deux ans de suivi. L'expérience a apporté des défis et une croissance personnelle au psychologue, auteur de cette étude, ainsi qu'à la patiente, par le biais d'activités ludiques adaptées à ses besoins, élargissant les soins au-delà de la dimension technique et technologique-qui sont importantes pour assurer le fonctionnement organique, bien qu'insuffisantes pour une qualité de vie minimalement satisfaisante.
Resumen Este estudio presenta la experiencia de una psicóloga en una intervención interdisciplinaria, realizada con una niña hospitalizada con enfermedades complejas crónicas, específicamente con amiotrofia muscular espinal tipo I. La experiencia se dio junto con la terapia ocupacional, y el relato fue estructurado a partir de material clínico registrado por la psicóloga del dúo en un diario de campo, durante sesiones semanales por dos años de monitoreo. La experiencia trajo desafíos y crecimiento personal a la psicóloga, autora de este estudio, así como a la paciente por medio de actividades lúdicas adaptadas a sus necesidades, lo que amplió la atención más allá de la dimensión técnica y tecnológica, elementos importantes para garantizar el funcionamiento orgánico, pero no suficiente para brindarle una calidad de vida mínimamente satisfactoria.
Assuntos
Humanos , Feminino , Pré-Escolar , Equipe de Assistência ao Paciente , Atrofias Musculares Espinais da Infância/psicologia , Atrofias Musculares Espinais da Infância/terapia , Criança HospitalizadaAssuntos
Atrofias Musculares Espinais da Infância/terapia , Adolescente , Adulto , Compostos Azo/uso terapêutico , Produtos Biológicos/uso terapêutico , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Fármacos Neuromusculares/uso terapêutico , Oligonucleotídeos/uso terapêutico , Pirimidinas/uso terapêutico , Proteínas Recombinantes de Fusão/uso terapêutico , Atrofias Musculares Espinais da Infância/diagnóstico , Atrofias Musculares Espinais da Infância/etiologia , Adulto JovemRESUMO
BACKGROUND: SMA1 natural history is characterized by early development of chronic respiratory failure. Respiratory interventions in type 1 SMA infants are subject to great practice variability. Nusinersen, has been recently approved in Argentina. The advent of novel treatments has highlighted the need for natural history studies reporting disease progression in type 1 SMA. OBJECTIVE: To analyze the progression, respiratory interventions and survival based on the type of respiratory support in type 1SMA patients, in a third level pediatric hospital in Argentina. METHODS: Cohort of SMA1 patients followed at the Interdisciplinary Program for the Study and Care of Neuromuscular Patients (IPNM). Patient survival was analyzed by using the Kaplan-Meier method. Log-rank test was performed to compare the survival curve for three respiratory intervention groups. RESULTS: 59 patients. Mean age of symptom onset was 2.19 (±1.4) months, age at diagnosis was 3.9 (±2.1) months. Patients developed respiratory failure at 5.82 months (±2.32) and 13.8 months (±5.6) in Type 1B and Type 1C, respectively (pâ<â0.001) 53 p were SMA1B. Three copies were found in 1/6 SMA1C. Respiratory interventions: SRC 23 p (56.1%); SRCâ+âNIV 8 p (19.5%); SRCâ+âIV 10 p (24.4%). 8 patients were already on invasive ventilation when included in the IPNM. Patients with invasive ventilation showed longer survival. CONCLUSIONS: This series provides valuable information on respiratory intervention requirements and life expectancy in children with SMA1 before the implementation of novel treatments that increase the expression of the SMA protein.
Assuntos
Progressão da Doença , Insuficiência Respiratória , Atrofias Musculares Espinais da Infância , Argentina/epidemiologia , Estudos de Coortes , Hospitais Pediátricos , Humanos , Lactente , Respiração Artificial , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/mortalidade , Insuficiência Respiratória/fisiopatologia , Insuficiência Respiratória/terapia , Atrofias Musculares Espinais da Infância/complicações , Atrofias Musculares Espinais da Infância/mortalidade , Atrofias Musculares Espinais da Infância/fisiopatologia , Atrofias Musculares Espinais da Infância/terapiaRESUMO
INTRODUCCIÓN: La calidad de vida (CV) es un aspecto fundamental del tratamiento en pacientes con Atrofia Muscular Espinal (AME). Existe escasa información a nivel local e internacional. OBJETIVO: Caracterizar la CV en una muestra de niños y adolescentes chilenos con AME. SUJETOS Y MÉTODO: Estudio observacional, transversal. Se aplicó un cuestionario y el módulo neuromuscular 3.0 de la encuesta PedsQLtm, a padres de niños con AME de 2-18 años. Ésta consta de 3 ámbitos: Enfermedad, Comunicación y Familia. Se consideró el puntaje >60 como CV buena, 30-60 regular y <30, deficiente. Se utilizó el programa MINITAB-17®, considerando significativo p ≤ 0,05. RESULTADOS: Se reclutaron 38 pacientes, con edad mediana 8 años (2-18), 52,7% hombres, y 17 (44,7%) AME I. Todos con confirmación genética. El puntaje total fue 51,92 ± 17, correspondiendo 31% a CV buena, 55% regular y 14% baja. En AME I fue 46,5 ± 15,2 y en AME II-III, 56,3 ± 17,4 (p = 0,071). Para el ámbito de Enfermedad fue 53,83 ± 18,1, de Familia 48,6 ± 23,14 y Comunicación 33,3 (RIC: 0,0-83,33). En este último, tuvieron mayor puntaje los pacientes con AME II o III, los mayores de 6 años, los con menor apoyo ventilatorio y los residentes en regiones. Sin embargo, en el análisis multivariado solamente el tipo de AME fue significativo, explicando 40,9% de la variación del puntaje del área de comunicación. Conclusiones: En esta muestra de pacientes con AME, la calidad de vida fue regular a buena en la mayoría. El área más baja fue la de Comunicación, con mayor puntaje en aquellos con mayor capacidad motora funcional.
INTRODUCTION: Quality of life (QoL) is a key aspect in the treatment of patients with Spinal Muscular Atrophy (SMA). International information regarding QoL in SMA is scarce, and is not available in our country. OBJECTIVE: To characterize QoL in a sample of Chilean children and adolescents with SMA. SUBJECTS AND METHOD: Observational, cross-sectional study. A general questionnaire and the PedsQLTM 3.0 Neuromuscular Module Inventory were applied to parents of children with SMA aged 2 to 18 years. It has three areas: Disease, Communication, and Family. A score >60 was considered as good QoL, 30-60 as regular, and <30 as low. MINITAB-17® software was used, considering significant a p <0.05 value. RESULTS: We recruited 38 patients, with median age 8 years (2-18), 52.63% were male, and 17 (44.7%) with SMA I. All had genetic confirmation. The total score of QoL was 51.92 ± 17, representing 31% good, 55% regular, and 14% low. Regarding SMA I, it was 46.5 ± 15.2 and SMA II-III, 56.3 ± 17.4 (p = 0.071). Concerning the area of Disease, it was 53.83 ± 18.1, Family 48.6 ± 23.14, and Communication 33.3 (IQR: 0.0; 83.33). In this last area, children with SMA II-III, older than 6 years., with non-invasive ventilatory support, or living out of the metropolitan area had hig her scores, however, in multivariate analysis, only SMA type was significant, which explained 40,9% of the variation in the communication area score. CONCLUSIONS: In this sample of SMA pediatric patients, the QoL was regular or good in most of them. The lowest area was communication, with a higher score in those children with higher motor function.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Qualidade de Vida/psicologia , Atrofias Musculares Espinais da Infância/fisiopatologia , Atrofias Musculares Espinais da Infância/psicologia , Atrofias Musculares Espinais da Infância/terapia , Indicadores Básicos de Saúde , Estudos Transversais , Comunicação , Relações Familiares , Destreza MotoraRESUMO
OBJECTIVE: To evaluate the effects of nusinersen on respiratory function of patients with type 1 spinal muscular atrophy. STUDY DESIGN: Observational, longitudinal cohort study. We collected respiratory data from 118 children with type 1 spinal muscular atrophy and differing pulmonary requirements and conducted a semistructured qualitative interview among a subsample of caregivers at baseline, 6 months, and 10 months after the first nusinersen treatment. Patients were stratified according to ventilation modalities and age at study entry. RESULTS: Most patients in our cohort remained stable (84/109 = 77%). More than 80% of the children treated before age 2 years survived, in contrast to the lower survival reported in natural history studies, and did so without tracheostomy or noninvasive ventilation (NIV) ≥16 hours. In those less than 2 years old, only 3 patients shifted from NIV ≤10 hours to NIV >10 hours, and the other 3 reduced the hours of NIV required. Most of the older patients remained stable; this included not only those on tracheostomy or NIV >10 hours but also 75% of those on NIV ≤10 hours. CONCLUSIONS: Our results suggest that nusinersen may produce some improvement in the progression of respiratory impairment, both in terms of survival and need for respiratory support ≥16 hours, especially before the age of 2 years.
Assuntos
Ventilação não Invasiva , Oligonucleotídeos/uso terapêutico , Respiração , Atrofias Musculares Espinais da Infância/fisiopatologia , Atrofias Musculares Espinais da Infância/terapia , Estudos de Coortes , Feminino , Humanos , Lactente , Estudos Longitudinais , Masculino , Atrofias Musculares Espinais da Infância/tratamento farmacológicoRESUMO
INTRODUCTION: Quality of life (QoL) is a key aspect in the treatment of patients with Spinal Muscular Atrophy (SMA). International information regarding QoL in SMA is scarce, and is not available in our country. OBJECTIVE: To characterize QoL in a sample of Chilean children and adolescents with SMA. SUBJECTS AND METHOD: Observational, cross-sectional study. A general questionnaire and the PedsQLTM 3.0 Neuromuscular Module Inventory were applied to parents of children with SMA aged 2 to 18 years. It has three areas: Disease, Communication, and Family. A score > 60 was considered as good QoL, 30-60 as regular, and < 30 as low. MINITAB-17« software was used, considering signifi cant a p < 0.05 value. RESULTS: We recruited 38 patients, with median age 8 years (2-18), 52.63% were male, and 17 (44.7%) with SMA I. All had genetic confirmation. The total score of QoL was 51.92 ± 17, representing 31% good, 55% regular, and 14% low. Regarding SMA I, it was 46.5 ± 15.2 and SMA II-III, 56.3 ± 17.4 (p = 0.071). Concerning the area of Disease, it was 53.83 ± 18.1, Family 48.6 ± 23.14, and Communication 33.3 (IQR: 0.0; 83.33). In this last area, children with SMA II-III, older than 6 years., with non-invasive ventilatory support, or living out of the metropolitan area had hig her scores, however, in multivariate analysis, only SMA type was significant, which explained 40,9% of the variation in the communication area score. CONCLUSIONS: In this sample of SMA pediatric patients, the QoL was regular or good in most of them. The lowest area was communication, with a higher score in those children with higher motor function.
Assuntos
Indicadores Básicos de Saúde , Qualidade de Vida , Atrofias Musculares Espinais da Infância , Adolescente , Criança , Pré-Escolar , Comunicação , Estudos Transversais , Relações Familiares , Feminino , Humanos , Masculino , Destreza Motora , Qualidade de Vida/psicologia , Atrofias Musculares Espinais da Infância/fisiopatologia , Atrofias Musculares Espinais da Infância/psicologia , Atrofias Musculares Espinais da Infância/terapiaRESUMO
METHODS: Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. RESULTS: We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. CONCLUSION: Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.
Assuntos
Doenças Neurodegenerativas/diagnóstico , Atrofias Musculares Espinais da Infância/diagnóstico , Adolescente , Adulto , Biópsia , Criança , Chile/epidemiologia , Estudos de Coortes , Eletromiografia , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Doenças Neurodegenerativas/mortalidade , Doenças Neurodegenerativas/terapia , Fenótipo , Prevalência , Características de Residência , Respiração Artificial , Escoliose/cirurgia , Fatores Socioeconômicos , Atrofias Musculares Espinais da Infância/mortalidade , Atrofias Musculares Espinais da Infância/terapia , Adulto JovemRESUMO
ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. Methods This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. Results We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. Conclusion Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.
La Atrofia Muscular Espinal (AME) ha concitado mucha atención en los últimos 2 años debido a la aprobación del primer tratamiento intratecal para esta enfermedad neurodegenerativa. América Latina necesita desarrollar la demografía de AME, un acceso oportuno al diagnóstico y un seguimiento apropiado de los pacientes que incorporen los estándares de atención recomendados por expertos. Estos son pasos esenciales para orientar las futuras políticas de salud en esta enfermedad. Métodos Este es un estudio descriptivo de una cohorte de pacientes con AME de todo el país. Se analizaron los datos clínicos, motores, funcionales, sociales y el estado nutricional, respiratorio y esquelético de los pacientes. También medimos el número de copias del gen SMN2 en esta población. Resultados se reclutaron 92 pacientes, 50 varones; 23 AME tipo 1, 36 AME tipo 2 y 33 AME tipo 3. La edad media al diagnóstico genético fue de 5, 24 y 132 meses respectivamente. Evaluamos el número de copias de SMN2 en 57 pacientes. Un 69,6% de los pacientes con AME tipo 1 estaban traqueostomízados y gastrostomizados , un 65% de los pacientes con AME tipo 2 usaban ventilación nocturna no invasiva y el 37% de toda la cohorte presentaba una cirugía de escoliosis. Conclusión Esta cohorte chilena de pacientes con AME tuvo acceso oportuno al diagnóstico genético, asistencia ventilatoria, apoyo nutricional y cirugía de escoliosis, sin embargo, la atención ventilatoria para AME tipo 1 continúa aun basándose principalmente en la traqueostomía. En esta serie, AME tipo 1 está subrepresentada, probablemente debido a las restricciones en el acceso al diagnóstico temprano y la tasa de mortalidad alta y temprana.
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Criança , Adolescente , Adulto , Adulto Jovem , Atrofias Musculares Espinais da Infância/diagnóstico , Doenças Neurodegenerativas/diagnóstico , Fenótipo , Respiração Artificial , Escoliose/cirurgia , Fatores Socioeconômicos , Biópsia , Atrofias Musculares Espinais da Infância/mortalidade , Atrofias Musculares Espinais da Infância/terapia , Chile/epidemiologia , Características de Residência , Prevalência , Estudos de Coortes , Doenças Neurodegenerativas/mortalidade , Doenças Neurodegenerativas/terapia , Predisposição Genética para Doença , Eletromiografia , GenótipoRESUMO
OBJECTIVE: To explore experiences and wishes of bereaved parents concerning end-of-life care for their child with severe spinal muscular atrophy. STUDY DESIGN: A follow-up survey was conducted in 2013 on parents of deceased Swedish children who were born between 2000 and 2010 and later diagnosed with spinal muscular atrophy type I or II (n = 48). The questions used in this study covered location of death (LoD), support from health care staff, and parents' wishes and concerns about their child's end-of-life care. RESULTS: One-half of those who had wishes about LoD (16/32) wanted their child to die at home, rather than at the hospital. All of those who wanted the child to die at the hospital had their wishes fulfilled. Among those who wanted the child to die at home, 10 of 16 got their wish. Among parents who talked with a physician about how they wanted their child to pass away (n = 26), all but 2 had their wishes fulfilled. Thirty-six parents (75%) reported that their child had siblings: 12 reported that the sibling was too young for professional psychological support, and only 4 of the remaining 24 siblings received such support after the death of their brother or sister. CONCLUSIONS: Parents' communication with the physician about their wishes and concerns regarding their child's end-of-life care and preferred LoD contributed to their wishes being fulfilled. The wish of hospital death was fulfilled more often than the wish of home deaths. A vast majority of siblings did not receive psychological support after death of their brother or sister.
Assuntos
Atitude Frente a Morte , Luto , Pais/psicologia , Relações Profissional-Família , Atrofias Musculares Espinais da Infância/terapia , Assistência Terminal/psicologia , Adulto , Feminino , Pesquisas sobre Atenção à Saúde , Humanos , Lactente , Masculino , Serviços de Saúde Mental , Pessoa de Meia-Idade , Garantia da Qualidade dos Cuidados de Saúde , Irmãos/psicologia , Apoio Social , Atrofias Musculares Espinais da Infância/psicologia , Suécia , Assistência Terminal/métodosRESUMO
Amiotrofia espinhal do tipo 1 (AME 1) é uma doença genética autossômica recessiva que promove morte celular de neurônios motores localizados no corno anterior da medula e núcleos motores do tronco cerebral. A precoce morbimortalidade está associada à disfunção bulbar e insuficiência respiratória, necessitando de internamento hospitalar e de suporte ventilatório artificial. O objetivo do estudo foi divulgar a relevância da manutenção de paciente com AME 1 sem prótese ventilatória invasiva e com protocolo de fisioterapia individualizado, proporcionando melhor qualidade de vida e integração com seus familiares. Descrição: relato de caso de menor diagnosticado com AME 1 que aos 11 meses foi submetido à ventilação mecânica invasiva (VMI) por 76 dias, obtendo sucesso no desmame após aplicação de um protocolo de fisioterapia respiratória, incluindo a utilização de tosse mecanicamente assistida e ventilação não invasiva (VNI). Discussão: apesar das dificuldades e intercorrências observadas, a assistência proposta alcançou o objetivo de retirada da VMI e transferência para internação domiciliar com dispositivos ventilatórios não invasivos. A VMI por traqueostomia é considerada tratamento de eleição no Brasil, no entanto, as famílias precisam ser esclarecidas da irreversibilidade da doença e das possibilidades estratégicas das terapêuticas atuais (VMI, VNI e paliação) para o manuseio de criança grave com AME 1...
The spinal muscular atrophy type 1 (AME1) is an autosomal recessive genetic disorder that promotes cell death of motor neurons located in the anterior horn of the spinal cord and motor nuclei of the brainstem. Early mortality is linked to the bulbar dysfunction and respiratory failure, requiring hospitalization and invasive mechanical ventilation (IMV). The purpose of this study is to promote the maintenance patients with SMA type 1 without invasive ventilation support and individualized physical therapy protocol, improving child's quality of life and integration with their families. Description: this report relates a child diagnosed with AME1, who at 11 months was admitted and underwent IMV for 76 days, succeeding extubation after respiratory therapy protocol application using cough machine and noninvasive ventilation (NIV). Discussion: despite the difficulties and complications observed, there was persistence of the proposed assistance, reaching goal of withdrawal of IMV and transfer to home care with noninvasive ventilation devices. The IMV for tracheostomy is considered treatment of choice in Brazil. Notwithstanding, families need to be clarified of the irreversibility of the disease and strategic possibilities of therapeutic strategies (IMV, NIV and palliation) for the management of the child with severe SMA 1...
Assuntos
Humanos , Lactente , Criança , Atrofias Musculares Espinais da Infância/terapia , Modalidades de Fisioterapia , Serviço Hospitalar de Fisioterapia , Ventilação não Invasiva , Brasil , Extubação , Indicadores de Morbimortalidade , Respiração ArtificialRESUMO
INTRODUCTION: Children with neurological diseases that impose severe limitations on their mobility have a deficient quality of life (QL). AIMS: To study whether the QL of such patients improves with the application of a programme of audiovisual stimulation. PATIENTS AND METHODS: A prospective study was conducted on nine children, six of whom were males (mean age: 42.6 ± 28.6 months), with severely limited mobility and who had been hospitalised for long periods. Two audiovisual stimulation programmes were produced and applied, together with videos, by means of a specially designed structure. The stimulus was applied twice a day for 10 minutes over 20 days. The first ten days the stimulus was carried out in a passive manner and the second block of ten days it was performed with the guidance of the observer. Biological, behavioural and cognitive variables were recorded and an adapted QL survey was applied. RESULTS: Three cases of spinal muscular atrophy, two of congenital muscular dystrophy, two of myopathy and two with other conditions were diagnosed. Eight patients completed the follow-up. From the baseline point of view, they presented a regular QL (7.2 ± 1.7 points; median: 7.0; range: 6-10), which improved to good on finishing the therapy (9.4 ± 1.2 points; median: 9.0; range: 8-11), with an intra-individual difference of 2.1 ± 1.6 (median: 2.5; range: -1 to 4; CI 95% = 0.83-3.42; p = 0.006). Improved cognition and a favourable perception in the caregivers were detected. No changes took place in the biological or behavioural variables. CONCLUSIONS: Audiovisual stimulation can be used to enhance the quality of life of children with severely limited mobility.
TITLE: Estimulacion audiovisual en niños con limitacion grave de la motricidad: mejora su calidad de vida?Introduccion. Los niños con enfermedades neurologicas que condicionan una limitacion grave de la movilidad tienen una calidad de vida (CV) deficiente. Objetivo. Estudiar si la CV de dichos pacientes mejora con la aplicacion de un programa de estimulacion audiovisual. Pacientes y metodos. Estudio prospectivo en nueve niños, seis de ellos varones (edad media: 42,6 ± 28,6 meses), con limitacion grave de la movilidad, hospitalizados de manera prolongada. Se elaboraron dos programas de estimulo audiovisual que, junto con videos, se aplicaron mediante una estructura especialmente diseñada. La frecuencia fue de dos veces al dia, por 10 minutos, durante 20 dias. Los primeros diez dias se llevo a cabo de manera pasiva y los segundos diez con guia del observador. Se registraron variables biologicas, conductuales, cognitivas y se aplico una encuesta de CV adaptada. Resultados. Se diagnosticaron tres casos de atrofia muscular espinal, dos de distrofia muscular congenita, dos de miopatia y dos con otros diagnosticos. Ocho pacientes completaron el seguimiento. Desde el punto de vista basal, presentaron CV regular (7,2 ± 1,7 puntos; mediana: 7,0; rango: 6-10), que mejoraba a buena al finalizar (9,4 ± 1,2 puntos; mediana: 9,0; rango: 8-11), con diferencia intraindividual de 2,1 ± 1,6 (mediana: 2,5; rango: 1 a 4; IC 95% = 0,83-3,42; p = 0,006). Se detecto mejoria en cognicion y percepcion favorable de los cuidadores. No hubo cambio en las variables biologicas ni conductuales. Conclusion. Mediante la estimulacion audiovisual es posible mejorar la calidad de vida de niños con limitacion grave de la movilidad.
Assuntos
Estimulação Acústica , Recursos Audiovisuais , Criança Hospitalizada/psicologia , Transtornos dos Movimentos/terapia , Estimulação Luminosa , Criança , Comportamento Infantil , Pré-Escolar , Chile , Cognição , Emoções , Feminino , Humanos , Lactente , Masculino , Atividade Motora , Transtornos dos Movimentos/psicologia , Distrofias Musculares/congênito , Distrofias Musculares/psicologia , Distrofias Musculares/terapia , Percepção , Estudos Prospectivos , Qualidade de Vida , Atrofias Musculares Espinais da Infância/psicologia , Atrofias Musculares Espinais da Infância/terapiaAssuntos
Humanos , Feminino , Lactente , Atrofias Musculares Espinais da Infância/complicações , Atrofias Musculares Espinais da Infância/diagnóstico , Atrofias Musculares Espinais da Infância/fisiopatologia , Atrofias Musculares Espinais da Infância/terapia , Pneumopatias Obstrutivas/complicações , Pneumopatias Obstrutivas/etiologia , Evolução Fatal , Infecções por Vírus Respiratório Sincicial/complicações , Infecções por Vírus Respiratório Sincicial/etiologiaRESUMO
OBJECTIVE: To determine the major complication rate in the first 30 days after enterostomy tube insertion in infants with spinal muscular atrophy (SMA) type 1. STUDY DESIGN: A retrospective case review of all children with SMA type 1 who had a gastrostomy or gastrojejunostomy tube placed by the image-guided technique at the Hospital for Sick Children from 1994-2004. Major complications were classified as peritonitis, aspiration pneumonia, respiratory failure, nonelective admission to the pediatric intensive care unit, and death. RESULTS: Twelve children were identified as having SMA type 1 with an enterostomy tube insertion. The median age at tube insertion was 6.1 months (range 2.2 to 15.8 months). Major complications in the first 30 days after the procedure included aspiration pneumonia (5/12 patients [41.6%]), respiratory failure requiring admission to the pediatric intensive care unit (4/12 [33%]), and death (2/12 [16.7%]). Children with development of aspiration pneumonia were significantly older at time of tube insertion (P < .05) than those with no aspiration. CONCLUSIONS: Major complications including death are seen in children with SMA type 1 in the first 30 days after enterostomy tube insertion.
Assuntos
Nutrição Enteral/efeitos adversos , Nutrição Enteral/instrumentação , Enterostomia/efeitos adversos , Enterostomia/instrumentação , Atrofias Musculares Espinais da Infância , Humanos , Lactente , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Atrofias Musculares Espinais da Infância/terapiaRESUMO
Amiotrofia espinal progressiva é uma doença genética autossômica recessiva que afeta o corpo dos neurônios motores no corno anterior da medula espinal. Também conhecida como Síndrome de Werdnig-Hoffmann (SWH), amiotrofia espinal progressiva tipo I é a forma mais grave da doença com início da sintomatologia antes dos seis meses de vida, evoluindo para óbito até os três anos. Caracteriza-se pela progressiva atrofia muscular, hipotonia, paresia, arreflexia, miofasciculação e comprometimento respiratório grave. Objetivo do presente trabalho é relatar o caso de uma criança portadora de Síndrome de Werdnig-Hoffmann que superou a expectativa de vida relatada na literatura. Para descrição e melhor embasamento sobre o assunto, no período de fevereiro a junho de 2005, realizou-se análise crítica e objetiva da literatura nas bases de dados PUBMED, MEDLINE e SCIELO, complementada por livros-texto, selecionando-se artigos mais relevantes sobre o assunto. Comprometimentos respiratório e motor sofrem influência direta da hipotonia e atrofia musculares, nas quais a fisioterapia destaca-se como uma equipe multidisciplinar, atuando na prevenção e no tratamento dos sinais e dos sintomas dessa síndrome. A qualidade de vida proporcionada pela fisioterapia minimizou complicações motoras e respiratórias, apresentou impacto satisfatório no prognóstico de criança portadora da síndrome de Werdnig-Hoffmann e contribuiu na superação da expectativa de vida preconizada pela literatura
Assuntos
Feminino , Pré-Escolar , Humanos , Atrofias Musculares Espinais da Infância/terapia , Modalidades de Fisioterapia/métodos , Qualidade de VidaRESUMO
Através do relato de caso de paciente com Síndrome de Werdnig-Hoffman, forma mais severa da amiotrofia espinal, de caráter autossômico recessivo, de início precoce e rápido e com uma freqüência não tão rara, demonstraremos as vantagens da internação domiciliar sobre a hospitalar. P.B.C., 7 anos , masculino, portador de amiotrofia espinal progressiva com insuficiência respiratória crônica e em ventilação pulmonar mecânica domiciliar. No primeiro ano de internação domiciliar apresentou oito reinternações hospitalares, sendo a última em outubro de 1999. Desde então a internação domiciliar mantém o paciente compensado clinicamente. Os achados deste estudo demonstram a importância do tratamento de internação domiciliar nestes casos, diminuindo a morbi-mortalidade destes pacientes, em relação à internação hospitalar convencional.
Through the report of the case of a patient with Werdnig-Hoffman syndrome, the most severe kind of spinalamyotrophy, autossomal recessive, that starts early and fast and with frequency not so rare, we will show the advantagesof the home care when compared to the hospitalar care. CPB, 7 years old, male, with progressive spinal amyotrophyand chronic respiratory insufficiency, who is in home mechanics pulmonary ventilation. On the first year of homecare he was rehospitalized 8 times. The last one was in october 1999. Since that time the home care program keeps the pacient in a stable clinical condition.The study shows the importance of the home care program on this kind of cases, with the decrement of morbidity and mortality of this patients when compared to traditional hospitalar care.