Strandqvist A, Haglind C Bieneck, Zetterström R H, Nemeth A, von Döbeln U, Stenlid M Halldin, Nordenström A
Department of Women and Children's Health, Karolinska Institutet, 171 76, Stockholm, Sweden.
Department of Psychology, Karolinska University Hospital, Stockholm, Sweden.
JIMD Rep. 2016;28:75-84. doi: 10.1007/8904_2015_505. Epub 2015 Nov 7.
Reports on cognitive outcomes in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) are scarce. We present results from neuropsychological assessments of eight patients diagnosed with LCHADD prior to newborn screening with regard to clinical disease severity.
Intellectual ability and adaptive and executive functions were assessed using age-appropriate Wechsler Scales, Adaptive Behavior Assessment Scales (ABAS), and Behavior Rating Inventory of Executive Function (BRIEF).
Five patients performed in the normal range on IQ tests but with lower scores on verbal working memory. In addition, they had lower parent-rated adaptive and executive functions.Three patients had intellectual disabilities with IQs below normal and/or autism spectrum disorders. In addition, they had low results on parent-rated adaptive functions. (Two of these patients had epilepsy.) Conclusions: Patients with LCHADD seem to have a specific cognitive pattern, with presentation as intellectual disability and specific autistic deficiencies or a normal IQ with weaknesses in auditive verbal memory and adaptive and executive functions. Future studies are warranted to investigate whether newborn screening programs and early treatment may promote improved neuropsychological development and outcomes.
关于长链3-羟基酰基辅酶A脱氢酶缺乏症（LCHADD）认知结果的报告很少。我们展示了8例在新生儿筛查前被诊断为LCHADD的患者的神经心理学评估结果，这些结果与临床疾病严重程度相关。
使用适合年龄的韦氏智力量表、适应性行为评估量表（ABAS）和执行功能行为评定量表（BRIEF）对智力、适应性和执行功能进行评估。
5例患者在智商测试中表现处于正常范围，但言语工作记忆得分较低。此外，他们在家长评定的适应性和执行功能方面得分也较低。3例患者存在智力残疾，智商低于正常水平和/或患有自闭症谱系障碍。此外，他们在家长评定的适应性功能方面得分也较低。（其中2例患者患有癫痫。）结论：LCHADD患者似乎具有特定的认知模式，表现为智力残疾和特定的自闭症缺陷，或者智商正常但听觉言语记忆以及适应性和执行功能存在弱点。有必要开展进一步研究，以调查新生儿筛查项目和早期治疗是否可能促进神经心理发育改善和更好的结果。
