Yacubian-Fernandes Adriano, Palhares Aristides, Giglio Alcir, Gabarra Roberto C, Zanini Silvio, Portela Luis, Silva Mateus Violin, Perosa Gimol Bezaquen, Abramides Dagma, Plese José Píndaro P
Department of Craniofacial Surgery, Hospital de Reabilitação de Anomalias Craniofaciais, University of Sao Paulo, Bauru, SP, Brazil.
Arq Neuropsiquiatr. 2005 Dec;63(4):963-8. doi: 10.1590/s0004-282x2005000600011. Epub 2005 Dec 15.
Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present. The objective of this study was to correlate brain malformations and timing for surgery with neuropsychological evaluation. We also tried to determine other relevant aspects involved in cognitive development of these patients such as social classification of families and parents education. Eighteen patients with Apert syndrome were studied, whose ages were between 14 and 322 months. Brain abnormalities were observed in 55.6% of them. The intelligence quotient or developmental quotient values observed were between 45 and 108. Mental development was related to the quality of family environment and parents education. Mental development was not correlated to brain malformation or age at time of operation. In conclusion, quality of family environment was the most significant factor directly involved in mental development of patients with Apert syndrome.
Apert综合征的特征为颅缝早闭、对称性并指(趾)畸形及其他全身畸形,通常伴有智力发育迟缓。本研究的目的是将脑畸形及手术时机与神经心理学评估相关联。我们还试图确定这些患者认知发展中涉及的其他相关方面,如家庭的社会分类和父母教育程度。对18例年龄在14至322个月之间的Apert综合征患者进行了研究。其中55.6%的患者观察到脑异常。观察到的智商或发育商值在45至108之间。智力发育与家庭环境质量和父母教育程度有关。智力发育与脑畸形或手术时的年龄无关。总之,家庭环境质量是直接影响Apert综合征患者智力发育的最重要因素。