Adverse childhood experiences and developmental disabilities: risks, resiliency, and policy.

Thanks to the seminal work of Robert Anda and Vincent Felitti, it is now widely accepted that adverse childhood experiences (ACEs) can have lifelong effects on physical, behavioral, and mental health and that many adult diseases can be considered developmental disorders that began early in life. Genomics has advanced the neurobiological understanding that underpins ACEs, wellness, and disease, which are modulated through stress pathways and epigenetic modifications. While data are currently limited, children with developmental disabilities have an increased ACE risk compared to typically developing peers. This recognition has important ramifications for health and policy interventions that address the root causes of ACEs, especially in this vulnerable population. With increased societal recognition, advances in policy will lead to medical, financial, and public benefits in years to come, hopefully changing healthcare models from 'sick care' to 'well care'. What this paper adds Adverse childhood experience (ACE) research has refocused medicine from the question 'What is wrong with you?' to 'What happened to you?'. Adopting ACE research into public policy can redirect healthcare models from providing 'sick care' to promoting 'well care'. Not exploring the role of ACEs in children with developmental disabilities leads to further vulnerability and morbidity. ACEs can be mitigated by early identification and implementation of evidence-based interventions.

Gracias al trabajo fundamental de Robert Anda y Vincent Felitti, ahora se acepta ampliamente que las experiencias adversas de la infancia (ACE) pueden tener efectos de por vida en la salud física, conductual y mental y que muchas enfermedades de los adultos pueden considerarse trastornos del desarrollo que comenzaron temprano en la vida. La genómica ha avanzado la comprensión neurobiológica que sustenta las ACE, el bienestar y la enfermedad, que se modulan a través de las vías del estrés y las modificaciones epigenéticas. Si bien los datos son actualmente limitados, los niños con trastornos del desarrollo tienen un mayor riesgo de ACE en comparación con sus compañeros con desarrollo neurotípico. Este reconocimiento tiene ramificaciones importantes para las intervenciones de salud y políticas que abordan las causas fundamentales de las ACE, especialmente en esta población vulnerable. Con un mayor reconocimiento social, los avances en las políticas conducirán a beneficios médicos, financieros y públicos en los próximos años, con suerte cambiando los modelos de atención médica de "atención de enfermos" a "atención de bienestar".

Graças ao trabalho seminal de Robert Anda e Vincent Felitti, atualmente é amplamente aceito que experiências adversas na infância (EAIs) podem ter efeitos por toda a vida na saúde física, comportamental e mental, e muitas doenças adultas podem ser consideradas desordens desenvolvimentais que começaram cedo na vida. A genômica tem avançado a compreensão neurobiológica que embasa as EAIs, bem estar e doenças, que são moduladas por meio de vias do estresse e modificações epigenéticas. Embora os dados sejam atualmente limitados, crianças com incapacidades desenvolvimentais tem risco aumentado de EAIs comparadas com pares com desenvolvimento típico. Este reconhecimento tem ramificações importantes para as intervenções em saúde e políticas que abordam as causas originais das EAIs, especialmente nesta população vulnerável. Com o aumento do reconhecimento social, os avanços nas políticas levarão a benefícios médicos, financeiros e públicos nos próximos anos, com esperança de mudanças nos modelos de cuidado em saúde do 'cuidado ao doente' para o 'bem estar'.

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Contained within this report is a systems-based approach to management of complications that result from leukodystrophies. We discuss the initial evaluation, identification of common medical issues, and management options to establish a comprehensive, standardized care approach. We will also address clinical topics relevant to select leukodystrophies, such as gallbladder pathology and adrenal insufficiency. The recommendations within this review rely on existing studies and consensus opinions and underscore the need for future research on evidence-based outcomes to better treat the manifestations of this unique set of genetic disorders.