STUDY ON FREQUENCY OF THE FRAGILE X SYNDROME IN PATIENTS WITH EARLY INFANTILE AUTISM.

共对113名患有早期婴儿孤独症的儿童（101名男孩和12名女孩）进行了脆性X染色体筛查。年龄2 ~ 14岁，平均5.5/12岁，按1980年《精神疾病诊断与统计手册》（DSM-Ⅲ）早期婴儿孤独症诊断标准诊断为孤独症。我们的FRA（X）患者中，男性为3/101例（3.0%），女性为0/12例。与文献中收集的853例男性自闭症患者中的65例（7.6%）相比，这是相当低的。在我们研究的12名女孩中没有遇到FRA（X）个体，在文献中的70名女性中也没有。这将反映出这样一个事实，即大多数FRA（X）阳性女性，如果受到影响，只有轻微的问题，包括学习障碍或轻度精神发育迟滞，而没有严重的行为问题。

A TOTAL OF 113 CHILDREN, 101 BOYS AND 12 GIRLS, WITH EARLY INFANTILE AUTISM WERE SCREENED FOR THE FRAGILE X CHROMOSOME. THEY RANGED IN AGE FROM 2 TO 14 YEARS WITH AN AVERAGE OF 5 5/12 YEARS, AND WERE DIAGNOSED AS AUTISTIC USING THE DIAGNOSTIC CRITERIA OF EARLY INFANTILE AUTISM BY THE 1980 DIAGNOSTIC AND STASTICAL MANUAL OF MENTAL DISORDER ( DSM-III). THE RATE OF FRA(X) PATIENTS IN OUR AUTISTIC BOYS WAS 3 IN 101 PATIENTS(3.0%) AND THAT IN AUTISTIC GIRLS WAS 0 IN 12 PATIENTS. THIS IS RATHER LOW COMPARED TO THE 65 IN 853 RATE(7.6%) FOR AUTISTIC MALES POOLED FROM THE LITERATURE.NO FRA(X) INDIVIDUALS WAS ENCOUNTERED IN THE 12 GIRLS WE STUDIED, NEITHER IN THE 70 FEMALES IN THE LITERATURE. THIS WOULD REFLECT THE FACT THAT MOST FRA(X) POSITIVE WOMEN, IF AFFECTED, HAVE ONLY MILD PROBLEMS INCLUDING LEARNING DISABILITIES OR MILD MENTAL RETARDATION WITHOUT SEVERE BEHAVIORAL PROBLEMS.