ABSTRACT
Rett syndrome (RS) is a rare neurodevelopmental disorder first described in 1966. It is characterized by the arrest and regression of intellectual, motor, and communicative developmental milestones, followed by the appearance of hand stereotypies after an apparently normal development period. Pathogenic variants in the MECP2 gene have been identified as a cause in most cases. The following review focuses on analyzing updated information regarding the medical and social aspects of RS globally, with a special emphasis of the situation in Chile. A multiple database search for updated information on RS was performed, selecting 68 articles published between 1995 and 2022, 56 on medical aspects, 11 on social aspects, and 1 on both. Additionally, information regarding certain social aspects was collected from government websites. Regarding medical aspects, the review focuses on RS' clinical features, diagnosis and classification, genetics, pathophysiology, and management. In relation to social aspects, the review presents the psychic and emotional stress that RS can cause on affected families based on international studies and, lastly, the opportunities and tools available to Chilean patients. RS is a complex disorder affecting multiple organ systems. Its management requires a multidisciplinary approach, having an important psychological and socioeconomic impact on the family. In Chile, Laws N° 20,422 and 21,292, the National Disability Service, and the creation of the "Caminamos por Ellas y Ellos" (We Walk for Them) foundation are positive milestones met in the journey of supporting these families.
Subject(s)
Rett Syndrome , Humans , Rett Syndrome/diagnosis , Rett Syndrome/genetics , Rett Syndrome/therapy , Chile , CommunicationABSTRACT
OBJECTIVES: To evaluate how age-related trends in nutritional status, physical health, and parental well-being in females with Rett syndrome may be related to gastrostomy placement and to examine the impact of the procedure on mortality. STUDY DESIGN: We included 323 females from the Australian Rett Syndrome Study and analyzed their demographic, genetic, and child and parental health data collected from over 6 waves of follow-up questionnaire between 2000 and 2011. We used mixed-effects models to estimate the association between repeated measures of outcomes and age, gastrostomy placement and their interaction and Cox proportional hazards regression models to estimate relative risks of mortality for individuals with gastrostomy. RESULTS: Nearly one-third (30.3%) of the cases underwent gastrostomy placement. Nutritional status based on weight, height, and body mass index (BMI) improved over time, and BMI was greater in individuals with gastrostomy placement than in those without (adjusted ß = 0.87, 95% CI 0.02-1.73). There was no association between gastrostomy placement and individual's physical health outcomes or parental physical and mental health, nor did the age trend of these outcomes vary by gastrostomy insertion status. Nevertheless, among those at risk of suboptimal weight, the all-cause mortality rate was greater in those who had gastrostomy placement compared with those who had not (hazard ratio 4.07, 95% CI 1.96-8.45). CONCLUSION: Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear.
Subject(s)
Enteral Nutrition/methods , Gastrostomy/methods , Health Status , Nutritional Status , Parents/psychology , Rett Syndrome/therapy , Adolescent , Adult , Australia/epidemiology , Body Mass Index , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Morbidity/trends , Retrospective Studies , Rett Syndrome/epidemiology , Rett Syndrome/physiopathology , Surveys and Questionnaires , Survival Rate/trends , Treatment Outcome , Young AdultABSTRACT
Este trabalho discorre sobre os atendimentos musicoterapêuticos realizados junto à equipe técnica da Associação Brasileira de Síndrome de Rett de São Paulo (Abre-te). Primeiramente temos como objetivo informar ao leitor sobre a Síndrome de Rett, a metodologia indtitucional e a linha de pensamento musicoterapêutico utilizada pelos musicoterapeutas da instituição. A seguir, estaremos explorando os níveis de prática clínica que o musicoterapeuta Kenneth. E. Bruscia nos cita em seu livro, e como foram aplicados dentro da instituição. Demosntraremos, também, o método de avaliação criado para trabalhar com estas meninas, as técnicas utilizadas e os recursos materiais utilizados durante as sessões. Finalmente, abrangeremos o trabalho de uma forma mais prática, quando relataremos alguns casos de atendimentos musicoterapêuticos em conjunto com o fisioterapêutico. Estaremos enfatizando o trabalho musicoterapêutico e como ele pode contribuir em uma equipe transdisciplinar.
Subject(s)
Humans , Female , Music Therapy , Patient Care Team , Rett Syndrome/therapyABSTRACT
Rett syndrome (RS) is a neurodegenerative disorder characterized by developmental arrest of parts of the brain. It is an X chromosome-linked condition which affects females almost exclusively. Recent reports have been generated concerning the multidisciplinary management of individuals exhibiting Rett syndrome. The aim of the present report was to provide an update on the oral manifestations of the disorder. We evaluated the general and oral characteristics of RS in 13 female patients. The most frequent manifestations were stereotyped hand movements and bruxism. The treatment we carried out included the use of biteplanes and acupuncture.
Subject(s)
Mouth Diseases/pathology , Rett Syndrome/pathology , Acupuncture Therapy , Adolescent , Anxiety/physiopathology , Bruxism/physiopathology , Child , Child, Preschool , Dental Care for Children , Dental Care for Disabled , Female , Hand/physiopathology , Humans , Mouth Diseases/therapy , Movement Disorders/physiopathology , Occlusal Splints , Rett Syndrome/physiopathology , Rett Syndrome/therapy , Tooth Abrasion/physiopathologyABSTRACT
Pesquisa realizada no período de 1922 a 1993 com seis (06) pacientes portadoras da Síndrome de Rett, visando a atuaçäo fisioterápica no tratamento destas crianças, para melhorar ou amenizar os sintomas resultantes desta síndrome
Subject(s)
Humans , Male , Female , Complementary Therapies , Hydrotherapy , Hyperthermia, Induced , Physical Therapy Specialty/statistics & numerical data , Rett Syndrome/diagnosis , Rett Syndrome/classification , Rett Syndrome/therapyABSTRACT
Se reportan cuatro casos en Costa Rica de niñas con criterio diagnóstico de Síndrome de Rett clásico, comportando una regresión psicomotora al final del primer año de vida, una desaceleración del crecimiento cefálico y un trastorno conductual dentro del cual la habilidad de las manos es reemplazada por estereotipias.