Sidoti E J, Marsh J L, Marty-Grames L, Noetzel M J
Division of Plastic and Reconstructive Surgery, St. Louis Children's Hospital, Mo, USA.
Plast Reconstr Surg. 1996 Feb;97(2):276-81. doi: 10.1097/00006534-199602000-00002.
Although the occurrence of cognitive impairment and behavioral disturbances in patients with metopic synostosis has been described, the incidence of this dysfunction has not been established. The records of 36 consecutive children with metopic synostosis followed at one craniofacial center from 1978 to 1993 were reviewed and parental questionnaires were completed to establish the frequency of mental retardation, learning disabilities, and behavioral problems associated with this synostosis. Documentation of syndromes, abnormal karyotype, and central nervous system anomalies also was done. The study group consisted of 27 males and 9 females. The average age at most recent follow-up was 7 years and 1 month (range 6 months to 22 years). Two patients had chromosomal abnormalities (9p syndrome and trisomy 21). On the basis of CT and MRI scans, intracranial anomalies were identified for only one patient having an absent corpus callosum. Thirty-two of the study patients had adequate information for longitudinal assessment. Twenty patients have normal development without apparent disability. Of these, those of school age are at appropriate grade level. Eight patients have mild to moderate learning disabilities or behavioral problems, including attention deficit/hyperactivity disorder and impaired language development. Four patients have significant mental impairment. Impaired cognitive development was not limited to children with abnormal karyotype or central nervous system anomaly. Cognitive and behavioral abnormalities occur in at least a third of patients with metopic synostosis. The, at times, subtle nature of these abnormalities mandates longitudinal developmental and neurologic evaluation for infants with metopic synostosis.
尽管已描述了额缝早闭患者认知障碍和行为障碍的发生情况，但这种功能障碍的发生率尚未确定。回顾了1978年至1993年在一个颅面中心随访的36例连续性额缝早闭患儿的记录，并完成了家长问卷调查，以确定与这种缝早闭相关的智力发育迟缓、学习障碍和行为问题的发生率。还对综合征、异常核型和中枢神经系统异常进行了记录。研究组由27名男性和9名女性组成。最近一次随访时的平均年龄为7岁1个月（范围6个月至22岁）。两名患者有染色体异常（9p综合征和21三体）。根据CT和MRI扫描，仅一名胼胝体缺失的患者被发现有颅内异常。32例研究患者有足够的信息进行纵向评估。20例患者发育正常，无明显残疾。其中，学龄儿童处于相应年级水平。8例患者有轻度至中度学习障碍或行为问题，包括注意力缺陷/多动障碍和语言发育受损。4例患者有明显的智力损害。认知发育受损并不局限于核型异常或中枢神经系统异常的儿童。至少三分之一的额缝早闭患者存在认知和行为异常。这些异常有时很微妙，这就要求对额缝早闭婴儿进行纵向发育和神经学评估。
