Autism spectrum disorders in propionic acidemia patients
Autism spectrum disorders in propionic acidemia patients
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DOI：
10.1007/s10545-017-0070-2
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发表时间：
2018-07-01
影响因子：
4.2
通讯作者：
Ouss, Lisa
中科院分区：
文献类型：
--
作者：
de la Batie, Caroline Dejean;Barbier, Valerie;Ouss, Lisa
丙酸血症是丙酰辅酶A羧化酶活性缺陷的结果。慢性神经系统和认知并发症经常发生，但该疾病的精神病学演变尚无充分记录。我们对 19 名年龄在 2 至 25 岁之间的儿童、青少年和年轻人进行了儿童精神病学评估，当怀疑患有自闭症谱系障碍时，使用 ADI-R、CARS-T 以及 ADOS。之前的心理测量检查也被考虑在内。 13 名患者的智商 < 80。两名患者患有自闭症，另外两名患者患有其他自闭症谱系障碍。五名患者不符合自闭症谱系障碍的诊断标准，但表现出困难，表明存在更广泛的自闭症表型（BAP）。另外四名患者有与其疾病相关的严重焦虑表现。两名患者出现急性精神病发作。患有自闭症谱系障碍或相关症状的患者在生命的前 3 年中失代偿的次数较少。这些患者接受评估时年龄也较大（中位年龄为 15 岁与 11 岁）。生命前 6 年的 3-羟基丙酸水平与自闭症谱系障碍诊断之间没有显着相关性。总之，自闭症谱系障碍在丙酸血症患者中很常见。这些患者应该接受深入的精神评估并筛查自闭症谱系障碍。需要进一步的研究来了解潜在的机制。
Propionic acidemia is the result of a deficiency in propionyl-CoA carboxylase activity. Chronic neurologic and cognitive complications frequently occur, but the psychiatric evolution of the disorder is not well documented. We conducted a pedopsychiatric evaluation of 19 children, adolescents and young adults, aged between 2 and 25 years, using ADI-R, CARS-T, as well as ADOS when autism spectrum disorder was suspected. Previous psychometric examinations were also taken into consideration. Thirteen patients had an IQ < 80. Two patients presented with autism and two additional patients with other autism spectrum disorders. Five patients did not fulfill diagnostic criteria for autism spectrum disorder but showed difficulties indicative of a broader autism phenotype (BAP). Four other patients had severe anxiety manifestations related to their disease. Two patients presented with acute psychotic episodes. The number of decompensations in the first 3 years of life was lower in patients with autism spectrum disorder or related symptoms. These patients were also older when they were assessed (median age of 15 years old versus 11 years old). There was no significant correlation between 3-hydroxypropionate levels during the first 6 years of life and autism spectrum disorder diagnosis. In conclusion, autism spectrum disorder is frequent in patients with propionic acidemia. These patients should undergo in-depth psychiatric evaluation and be screened for autism spectrum disorder. Further studies are needed to understand the underlying mechanisms.