{"title":"Neuropsychological Disorders in Moderate Hyperphenylalaninemia: Literature Review.","authors":"L Paermentier, A Cano, B Chabrol, A Roy","doi":"10.1080/87565641.2022.2162902","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50586,"journal":{"name":"Developmental Neuropsychology","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Developmental Neuropsychology","FirstCategoryId":"102","ListUrlMain":"https://doi.org/10.1080/87565641.2022.2162902","RegionNum":4,"RegionCategory":"心理学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PSYCHOLOGY","Score":null,"Total":0}
引用次数: 1
Abstract
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.
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.
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