自闭症谱系障碍
磁刺激
神经心理学
病理生理学
内科学
病因学
自闭症
心理学
医学
神经影像学
癫痫持续状态
内分泌学
精神科
癫痫
刺激
认知
作者
Itay Tokatly Latzer,Ellen Hanson,Mariarita Bertoldi,Àngels García‐Cazorla,Melissa Tsuboyama,Paul MacMullin,Alexander Rotenberg,Jean‐Baptiste Roullet,Phillip L. Pearl,K. Michael Gibson,Erland Arning,Melissa L. DiBacco,Fatih Aygün,Daniyal Sachee,Henry H.C. Lee,Christos Papadelis,Thomas Opladen,Kathrin Jeltsch,Simon K. Warfield,Carolyn Hoffman
摘要
To elucidate the etiological aspects of autism spectrum disorder (ASD) in succinic semialdehyde dehydrogenase deficiency (SSADHD), related to dysregulation of γ-aminobutyric acid (GABA) and the imbalance of excitatory and inhibitory neurotransmission.In this prospective, international study, individuals with SSADHD underwent neuropsychological assessments, as well as biochemical, neurophysiological, and neuroimaging evaluations.Of the 29 individuals (17 females) enrolled (median age [IQR] 10 years 5 months [5 years 11 months-18 years 1 month]), 16 were diagnosed with ASD. ASD severity significantly increased with age (r = 0.67, p < 0.001) but was inversely correlated with plasma GABA (r = -0.67, p < 0.001) and γ-hydroxybutyrate levels (r = -0.538, p = 0.004), and resting motor threshold as measured by transcranial magnetic stimulation (r = -0.44, p = 0.03). A discriminative analysis indicated that an age older than 7 years 2 months (p = 0.004) and plasma GABA levels less than 2.47 μM (p = 0.01) are the threshold values beyond which the likelihood of ASD presenting in individuals with SSADHD is increased.ASD is prevalent but not universal in SSADHD, and it can be predicted by lower levels of plasma GABA and GABA-related metabolites. ASD severity in SSADHD increases with age and the loss of cortical inhibition. These findings add insight into the pathophysiology of ASD and may facilitate its early diagnosis and intervention in individuals with SSADHD.
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