Huisman J, van der Schot L W, Hendrikx M M, Kalverboer A F, Slijper F M
Academisch Ziekenhuis Vrije Universiteit, afd. Medische Psychologie, Amsterdam.
Ned Tijdschr Geneeskd. 1992 Nov 14;136(46):2277-81.
To evaluate the intellectual development of patients with phenylketonuria (PKU) or hyperphenylalaninaemia (HPA).
Longitudinal follow-up study.
University Children's Hospitals of Amsterdam, Groningen, Nijmegen, and Rotterdam.
In September 1974 a nationwide neonatal screening for PKU started in the Netherlands. We obtained data on the intellectual development of 116 patients (101 classical PKU, 15 HPA), all detected and treated in the first 15 years of this screening. The children were tested at 6 ages with different instruments for the assessment of intellectual functions, and the scores were compared with the test norms. Performance and verbal capacities were determined as well as possible sex-related differences.
Our data show that the levels of intellectual functioning of PKU and HPA patients do not differ from test norms until the age of 8 yr 6 months. In the older PKU patients there appears to be a trend towards lower IQ scores. We found no sex differences in the mental functioning of PKU patients.
Continuation of this study is necessary in order to investigate possible negative effects of PKU on cognitive functioning, especially in the older age groups.
评估苯丙酮尿症（PKU）或高苯丙氨酸血症（HPA）患者的智力发育情况。
纵向随访研究。
阿姆斯特丹、格罗宁根、奈梅亨和鹿特丹的大学儿童医院。
1974年9月荷兰开始全国范围内的新生儿苯丙酮尿症筛查。我们获取了116例患者（101例典型PKU，15例HPA）智力发育的数据，这些患者均在筛查的前15年被检测出并接受治疗。使用不同的智力功能评估工具在6个年龄段对儿童进行测试，并将分数与测试常模进行比较。确定了表现和语言能力以及可能存在的性别差异。
我们的数据显示，PKU和HPA患者的智力功能水平在8岁6个月之前与测试常模没有差异。年龄较大的PKU患者似乎有智商分数较低的趋势。我们未发现PKU患者在心理功能方面存在性别差异。
有必要继续这项研究，以调查PKU对认知功能可能产生的负面影响，尤其是在年龄较大的人群中。
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