RESUMO
Neurodevelopmental disorders include a wide range of diseases such as autism spectrum disorders and mental retardation. Mutations in several genes that regulate neural development and synapse function have been identified in neurodevelopmental disorders. Interestingly, some affected genes and pathways in these diseases are associated with the autophagy pathway. Autophagy is a complex, bulky degradative process that involves the sequestration of cellular proteins, RNA, lipids, and cellular organelles into lysosomes. Despite recent progress in elucidating the genetics and molecular pathogenesis of these disorders, little is known about the pathogenic mechanisms and autophagy-related pathways involved in common neurodevelopmental disorders. Therefore, in this review, we focus on the current understanding of neuronal autophagy as well as recent findings on genetics and the roles of autophagy pathway in common neurodevelopmental disorders.
RESUMO
A 4-yr-old girl has exhibited severe snoring, restless sleep and increasing daytime sleepiness over the last 3 months. The physical examination showed that she was not obese but had kissing tonsils. Polysomnography demonstrated increased apnea-hypopnea index (AHI) of 5.2, and multiple sleep latency tests (MSLT) showed shortened mean sleep latency and one sleep-onset REM period (SOREMP). She was diagnosed with obstructive sleep apnea (OSA) and underwent tonsillectomy and adenoidectomy. After the surgery, her sleep became much calmer, but she was still sleepy. Another sleep test showed normal AHI of 0.2, the mean sleep latency of 8 min, and two SOREMPs. Diagnosis of OSA to be effectively treated by surgery and narcolepsy without cataplexy was confirmed. Since young children exhibiting both OSA and narcolepsy can fail to be diagnosed with the latter, it's desirable to conduct MSLT when they have severe daytime sleepiness or fail to get better even with good treatment.
