Revising the Psychiatric Phenotype of Homocystinuria.,Genetics in Medicine

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Revising the Psychiatric Phenotype of Homocystinuria.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2019-01-15 , DOI: 10.1038/s41436-018-0419-4
Mohamed A Almuqbil _{1,

2,

3} , Susan E Waisbren ₁ , Harvey L Levy ₁ , Jonathan D Picker _{1,

4}

Affiliation

PURPOSE Associations of psychiatric and psychological symptoms with homocystinuria (HCU) have been described in multiple reports. This retrospective study was undertaken to refine the psychological phenotype among HCU patients and identify biomedical markers that could be used for prediction of those psychiatric or psychological symptoms. METHODS This study examines the prevalence of psychological symptoms within a sample of 25 patients with classical homocystinuria. RESULTS Psychological symptoms were noted in 16 of the 25 patients in the sample (64%), including a high prevalence of both anxiety (32%) and depression (32%) and correlated with IQ < 85. There was no difference in the type or the number of psychological symptoms between those diagnosed from newborn screening and early treated and those treated after 2 years of age. CONCLUSION The results support the possible role of homocysteine as a risk factor for psychological and psychiatric problems and cognitive deficits and suggest that earlier diagnosis and treatment may reduce risk of their occurrences. Although early treatment clearly prevented serious medical complications, psychological and psychiatric symptoms were not associated with medical complications, highlighting the need for continued investigation.

中文翻译：

修订同型半胱氨酸尿症的精神病学表型。

目的精神和心理症状与同型胱氨酸尿症 (HCU) 的关联已在多份报告中进行了描述。这项回顾性研究旨在完善 HCU 患者的心理表型，并确定可用于预测这些精神或心理症状的生物医学标志物。方法本研究调查了 25 名典型高胱氨酸尿症患者样本中心理症状的普遍性。结果样本中 25 名患者中有 16 名（64%）出现心理症状，包括高患病率的焦虑（32%）和抑郁（32%），并且与 IQ < 85 相关。类型无差异或新生儿筛查诊断和早期治疗者与 2 岁后接受治疗者之间的心理症状数量。结论结果支持同型半胱氨酸作为心理和精神问题以及认知缺陷的危险因素的可能作用，并表明早期诊断和治疗可能会降低其发生的风险。尽管早期治疗明显预防了严重的医疗并发症，但心理和精神症状与医疗并发症无关，突出了继续调查的必要性。

更新日期：2019-01-26

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