ABSTRACT
Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn screening for SMA, which is already performed in many countries, has been scheduled to begin in the near future. The development of a well-organized program is paramount to achieve favorable outcomes for the child who is born with the disease and for the costs involved in health care. We herein present a review paper hoping to point out that SMA neonatal screening is urgent and will not increase the cost of its care.
A atrofia muscular espinhal (AME) é uma doença genética neuromuscular progressiva tratável atualmente. Quanto antes o tratamento com as terapias modificadoras da doença for iniciado, melhor será o prognóstico. A triagem neonatal para a AME, já implementada em vários países, está programada para iniciar no Brasil em um futuro próximo. O desenvolvimento de um programa bem organizado é fundamental para que se alcance um resultado favorável para as crianças que nascem com a doença e para os custos envolvidos nos cuidados de saúde. Apresentamos um artigo de revisão na esperança de enfatizar que a triagem neonatal para a AME é urgente e não aumentará os custos relacionados aos cuidados.
Subject(s)
Muscular Atrophy, Spinal , Neonatal Screening , Humans , Neonatal Screening/methods , Infant, Newborn , Muscular Atrophy, Spinal/diagnosis , Muscular Atrophy, Spinal/geneticsABSTRACT
During the last decades, the expectancies towards sexual life of people with intellectual disability have been more and more recognized by researchers, clinicians, caregivers and parents. These expectancies, that largely depend on socio-cultural and personal factors, such as the level of disability, must be supported in order to help people with intellectual disability to reach the best quality of life as possible. Therefore, it is important to identify every patients and residents personal expectancies towards sexuality and which medical and educative support he/she needs according to his/her disability and co-morbidity. The aim of the present paper is to review the different research works conducted in this area.
Subject(s)
Persons with Mental Disabilities , Sexuality , Adolescent , Adult , Child , Contraception , Female , Humans , Male , Sex Offenses/prevention & control , Sexually Transmitted Diseases/prevention & controlABSTRACT
During the last decades, the expectancies towards sexual life of people with intellectual disability have been more and more recognized by researchers, clinicians, caregivers and parents. These expectancies, that largely depend on socio-cultural and personal factors, such as the level of disability, must be supported in order to help people with intellectual disability to reach the best quality of life as possible. Therefore, it is important to identify every patients and residents personal expectancies towards sexuality and which medical and educative support he/she needs according to his/her disability and co-morbidity. The aim of the present paper is to review the different research works conducted in this area.
En décadas recientes los investigadores, médicos, personal de salud y padres de las personas con discapacidad intelectual han venido reconociendo cada vez más la expectativa de una vida sexual para éstas últimas. Estas expectativas, que en gran medida dependen de factores personales y socioculturales, como por ejemplo, el grado de discapacidad, merecen apoyarse a fin de que las personas con discapacidad intelectual alcancen la mejor calidad de vida posible. Por lo tanto, es importante identificar las expectativas individuales de cada paciente con respecto a su sexualidad, para así poder saber qué clase de apoyo médico o educativo necesita de acuerdo a su discapacidad y comorbilidad. La finalidad del presente estudio será revisar las diversas investigaciones efectuadas en este campo.