Brinkmann G, Schlitt H, Zorowka P, Spranger J
Children's Hospital, University of Mainz, Germany.
Am J Med Genet. 1993 Oct 1;47(5):800-4. doi: 10.1002/ajmg.1320470540.
Increased intracranial pressure and ventricular and subarachnoidal dilatation are common manifestations in achondroplasia. They rarely lead to major neurologic and/or psychomotor deficits and neurosurgical intervention is seldom needed. The present study was undertaken to detect signs of minor cerebral dysfunction and discuss possibilities of their prevention. Thirty children with achondroplasia were compared to 3 control groups: their next-born sibs, 30 children with other forms of dwarfism, and 30 children with normal height. Early development was assessed by means of questionnaires. Cognitive skills were evaluated with the German version of the Cognitive Abilities Test and the Lorge-Thorndike Intelligence Test. Personality data were tested using standardized neuroticism, extraversion, and anxiety scales. Children with achondroplasia had more frequent histories of delayed motor development, retarded speech development, and lower school grades in language-related specialties. Psychometric testing disclosed total and subtest scores in the population-based normal range. In comparison with their sibs and matched controls children with achondroplasia had significantly lower total scores mainly caused by low scores in the subtest "verbal comprehension." We conclude that verbal comprehension is significantly impaired in children with achondroplasia. This partial deficiency is probably related to frequent middle ear infections and resulting conductive hearing loss. Hypotonia with delayed oropharyngeal muscle coordination and parental response to an altered, more infantile instinctive releasing pattern may be contributing factors.
颅内压升高以及脑室和蛛网膜下腔扩张是软骨发育不全的常见表现。它们很少导致严重的神经和/或精神运动功能缺陷，很少需要神经外科干预。本研究旨在检测轻度脑功能障碍的迹象并探讨预防的可能性。将30名软骨发育不全儿童与3个对照组进行比较：他们的同胞、30名其他形式侏儒症儿童和30名身高正常的儿童。通过问卷调查评估早期发育情况。使用德文版的认知能力测试和洛吉 - 桑代克智力测试评估认知技能。使用标准化的神经质、外向性和焦虑量表测试人格数据。软骨发育不全儿童运动发育延迟、语言发育迟缓以及在语言相关专业上学成绩较低的病史更为常见。心理测量测试显示总体和子测试分数在基于人群的正常范围内。与他们的同胞和匹配的对照组相比，软骨发育不全儿童的总分明显较低，主要是由于“言语理解”子测试中的低分所致。我们得出结论，软骨发育不全儿童的言语理解能力明显受损。这种部分缺陷可能与中耳感染频繁及由此导致的传导性听力损失有关。肌张力低下伴口咽肌肉协调延迟以及父母对改变的、更幼稚的本能释放模式的反应可能是促成因素。
