苯丙酮尿症学龄儿童就学情况随访

Follow - up the learning condition in school age Phenylketonuria (PKU) children.

目的鉴于来我院就诊的苯丙酮尿症(PKU)患儿大部分都是延误治疗未经新生儿筛查的,他们都有不同程度的脑损伤,我们研究的目的是为了观察这些患儿治疗与学习情况的关连。方法我们对于1996年6月30日以前出生的 42例经典PKU患儿,皆用国产(北京)特殊营养食品治疗者,随访了入学、学习成绩的资料(包括2例新生儿筛查后即刻治疗)。结果 1．2例新生儿筛查后即刻治疗。学习成绩优秀,社会交往方面与正常孩子相同。2．儿童期诊断的经典 PKU 40例是在婴幼儿期或儿童期诊断的(未经新生儿筛查)入学31例(31／40,77．5％,包括推迟入学、不包括学前班和弱智学校),总入学率为77．50％。3．就学儿童的语文成绩均在中等以上,与开始治疗年量相关性较小,但对抽象思维影响很大,因此数学成绩较差。4．父母的文化程度、对治疗的依从性、家庭经济水平、家长与医生营养师、家长之间的交流对取得良好的治疗效果是非常重要的。结论早发现、早治疗,对预防苯丙酮尿症智力低下的发生是十分必要的,出生6 个月以后开始治疗的经典PKU患儿有一定效果,大部分可以就学。

Objective： Since most of the PKU children visited our hospital were delay treated and didn＇t undergo newborn screening, so all of them had different degrees of cerebral damage. The aim of our study in to observe the relationship between treatment and learning condition of PKU children. Methods ： We summaries 42 cases of classic PKU children （born before 30＇s June 1996）, they were treated with local- made （Beijing product） special nutritional food, Included two cases treated since neonates period and analyzed the data of school enrolment, school reports to show their learning condition. Results： 1. Two cases treated since neonates; were diagnosed by newborn screening, now their school reports are excellent. Social communieational ability are same as normal children. 2. 40 cases of classic PKU were diagnosed at infantile stage or childhood （didn＇t undergo the newborn screening）, 31 cases （31/40, 77.5% ） were enrolled to school （include postponed enrolled） the total enrolling rate were 77.5% （except pre -school classes and for mental retarded school）. 3. The above data show that all the Chinese language records are above ＂C＂, but the mathematic records of are rather not good; related to when the treatment started later the learning condition is harder. 4. Better cultural background; higher economic income of parents; comply with treatment and mutritionist mutual exchanges between doctors -parents are very important to gain curative effect. Conclusion： We considered that newborn screening for the earlier diagnoses and treatment of PKU are of extreme- ly importance for prevent mental retardation. Even the treatment were started older than 6 m. still achieve certain effect, most of them were able to enroll to school.