Schaefer F, Burgard P, Batzler U, Rupp A, Schmidt H, Gilli G, Bickel H, Bremer H J
University Children's Hospital, Heidelberg, Germany.
Acta Paediatr. 1994 May;83(5):534-41. doi: 10.1111/j.1651-2227.1994.tb13075.x.
Growth and skeletal maturation was evaluated in 82 children participating in the German Collaborative Study of Children Treated for Phenylketonuria (PKU). Height, weight, head circumference and bone age were recorded at regular intervals for the first 6 years of life. The mean SD score (SDS) for height was not significantly different from zero at study entry, but decreased mainly during the second year of life to a nadir of -0.78 in boys and -0.54 in girls at 2.5 years. During the subsequent years, a significant trend towards a regain of height SDS was noted in both sexes. Weight-for-height SDS was close to zero in both sexes, with a significant continuous increasing trend throughout the observation period. Head circumference SDS decreased in boys during the first year of life from -0.28 to -0.68, whereas girls showed only a minor change. During the further follow-up period, head circumference SDS remained at approximately -0.3 in boys and 0.0 in girls. While the mean verbal and performance IQ of the total study population at 5 and 6 years of age did not differ from a group of 212 healthy non-PKU children, patients with a head circumference SDS less than the population median at 2 years of age exhibited poorer cognitive abilities at school age than those patients with a relative head size greater than the population median. The children with a head circumference less than the median at 2 years had smaller head sizes already at birth; in addition, the change in relative head size during the first 2 years was correlated significantly with cognitive abilities at school age in boys. Mean bone age was identical to chronological age at each time point of observation. The rate of maturation was one year of bone age per year of chronological age. No correlation between phenylalanine intake or phenylalanine concentrations and the rates of body or head growth or skeletal maturation could be established. We conclude that despite adequate weight gain, moderate growth retardation occurred during the first 2 years of life in this group of children treated for PKU. Growth was more compromised in boys than in girls and tended to be compensated during later follow-up. Early infantile head circumference and growth appear to be predictors of cognitive development.
对82名参与德国苯丙酮尿症（PKU）治疗儿童协作研究的儿童进行了生长和骨骼成熟度评估。在生命的前6年定期记录身高、体重、头围和骨龄。研究开始时身高的平均标准差评分（SDS）与零无显著差异，但主要在生命的第二年下降，男孩在2.5岁时降至最低点-0.78，女孩降至-0.54。在随后的几年中，两性均出现身高SDS显著回升的趋势。身高体重SDS在两性中均接近零，在整个观察期内有显著的持续上升趋势。男孩在生命的第一年头围SDS从-0.28降至-0.68，而女孩仅出现轻微变化。在进一步的随访期内，男孩的头围SDS约为-0.3，女孩为0.0。虽然5岁和6岁时整个研究人群的平均语言智商和操作智商与212名健康非PKU儿童组成的对照组无差异，但2岁时头围SDS低于人群中位数的患者在学龄期的认知能力比头围相对大于人群中位数的患者差。2岁时头围小于中位数的儿童在出生时头围就较小；此外，男孩在头两年相对头围的变化与学龄期的认知能力显著相关。在每个观察时间点，平均骨龄与实际年龄相同。成熟速率为实际年龄每增长一岁骨龄增长一岁。未发现苯丙氨酸摄入量或苯丙氨酸浓度与身体或头部生长速率或骨骼成熟度之间存在相关性。我们得出结论，尽管体重增加充足，但在这组接受PKU治疗的儿童中，生命的前两年出现了中度生长迟缓。男孩的生长比女孩受到的影响更大，且在后期随访中趋于得到补偿。婴儿早期的头围和生长似乎是认知发展的预测指标。
