中度高苯丙氨酸血症的神经心理障碍:文献综述。

IF 1.6 4区心理学 Q3 PSYCHOLOGY Developmental Neuropsychology Pub Date : 2023-01-01 DOI:10.1080/87565641.2022.2162902

L Paermentier, A Cano, B Chabrol, A Roy

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引用次数: 1

摘要

中度高苯丙氨酸血症(mHPA)是新生儿筛查时苯丙氨酸水平低于360 μmol/l的羟化酶缺乏症。mHPA对神经系统的影响通常被认为是非常低的，但很少有研究调查mHPA患者的神经心理学特征。因此，对mHPA的神经心理学方面进行了系统的回顾。结果显示，它保留了认知功能(智力、记忆、视觉……)。然而，一些指标表明，这一群体在执行方面存在困难。考虑到执行功能在日常生活中的重要影响，有必要在mHPA患者中开展其他研究，提出一种综合的方法。

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Neuropsychological Disorders in Moderate Hyperphenylalaninemia: Literature Review.

Moderate hyperphenylalaninemia (mHPA) is a hydroxylase deficiency corresponding to phenylalanine levels, at newborn screening, below 360 μmol/l. The neurological impact of mHPA is usually considered to be very low, but few studies have investigated the neuropsychological profile of mHPA patients.A systematic review of the neuropsychological aspects of mHPA was therefore conducted.The results showed a preservation of cognitive functions (intelligence, memory, visuoperception…). However, several indicators point to executive difficulties in this population. In regard to the important impact of executive functions in daily life, it is essential to conduct other studies in mHPA patients by proposing an integrative approach.

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来源期刊

Developmental Neuropsychology 医学-心理学

CiteScore

2.80

自引率

6.70%

发文量

审稿时长

>12 weeks

期刊介绍： Devoted to exploring relationships between brain and behavior across the life span, Developmental Neuropsychology publishes scholarly papers on the appearance and development of behavioral functions, such as language, perception, and social, motivational and cognitive processes as they relate to brain functions and structures. Appropriate subjects include studies of changes in cognitive function—brain structure relationships across a time period, early cognitive behaviors in normal and brain-damaged children, plasticity and recovery of function after early brain damage, the development of complex cognitive and motor skills, and specific and nonspecific disturbances, such as learning disabilities, mental retardation, schizophrenia, stuttering, and developmental aphasia. In the gerontologic areas, relevant subjects include neuropsychological analyses of normal age-related changes in brain and behavioral functions, such as sensory, motor, cognitive, and adaptive abilities; studies of age-related diseases of the nervous system; and recovery of function in later life. Empirical studies, research reviews, case reports, critical commentaries, and book reviews are featured in each issue. By publishing both basic and clinical studies of the developing and aging brain, the journal encourages additional scholarly work that advances understanding of the field of lifespan developmental neuropsychology.