RESUMO
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.
Assuntos
Doenças Desmielinizantes/terapia , Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central/terapia , Leucoencefalopatias/terapia , Doenças por Armazenamento dos Lisossomos/prevenção & controle , Doenças por Armazenamento dos Lisossomos/terapia , Insuficiência Adrenal/terapia , Adulto , Criança , Doenças Desmielinizantes/congênito , Feminino , Vesícula Biliar/patologia , Predisposição Genética para Doença , Humanos , Leucoencefalopatias/congênito , Masculino , Qualidade de VidaRESUMO
BACKGROUND: We aimed to determine whether there was a decrease in the number of children diagnosed on the autism spectrum after the implementation of the new diagnostic criteria as outlined in the Diagnostic and Statistical Manual of Mental Health Disorders Fifth Edition published in May 2013. METHOD: We reviewed 1552 charts of children evaluated at the Women and Children's Hospital of Buffalo, Autism Spectrum Disorders Clinic. A comparison was made of children diagnosed with autism spectrum disorder (autism, Asperger disorder, pervasive developmental disorder-not otherwise specified) from 2010 to May 2013 using the Diagnostic and Statistical Manual of Mental Health Disorders Fourth Edition, Text Revision criteria with children diagnosed from June 2013 through June 2015 under the Diagnostic and Statistical Manual of Mental Health Disorders Fifth Edition. RESULTS: Using χ(2) analysis, the 2013-2015 rate of autism spectrum disorder diagnosis (39%) was significantly lower (P < 0.01) than the 2010 to May 2013 sample years rate (50%). CONCLUSION: The rate of autism spectrum disorder diagnosis was significantly lower under the recently implemented Diagnostic and Statistical Manual of Mental Health Disorders Fifth Edition criteria.
