Association for University Centers on Disabilities, Silver Spring, MD, USA.
J Pediatr. 2010 Mar;156(3):420-6. doi: 10.1016/j.jpeds.2009.09.068. Epub 2009 Nov 14.
To examine the presence of developmental disabilities and receipt of special education services in children with an inborn error of metabolism.
The study population was children born from 1988 through 2001 in whom a metabolic disorder was diagnosed after identification by newborn screening (n = 97) or after clinical identification (n = 34). These children were linked to the Metropolitan Atlanta Development Disability Surveillance Program (MADDSP) and Special Education Database of Metropolitan Atlanta (SEDMA) to determine developmental outcomes at 8 years of age and 3 through 10 years of age, respectively. Medical and educational records were examined to consider factors contributing to developmental outcomes.
Of 97 children with a metabolic disorder identified with newborn screening, 12 (12.4%) were identified by SEDMA as receiving special education services and 2 (2.7%) were identified by MADDSP as having a developmental disability. Of the 34 children with a clinically identified metabolic disorder, 8 (23.5%) were identified with SEDMA, and 5 (17.2%) were identified with a MADDSP developmental disability.
Early identification and treatment have been successful in limiting the impact of severe developmental disabilities. Continued surveillance and research are needed to monitor less severe developmental outcomes.
研究患有先天性代谢缺陷的儿童是否存在发育障碍，并接受特殊教育服务。
研究人群为 1988 年至 2001 年期间出生的儿童，他们在通过新生儿筛查（n = 97）或临床诊断（n = 34）发现代谢紊乱后被诊断为患有代谢紊乱。这些儿童与亚特兰大都会发育障碍监测计划（MADDSP）和亚特兰大都会特殊教育数据库（SEDMA）相关联，以分别确定 8 岁和 3 至 10 岁时的发育结果。检查医疗和教育记录，以考虑影响发育结果的因素。
在通过新生儿筛查发现的 97 名患有代谢紊乱的儿童中，SEDMA 确定有 12 名（12.4%）接受特殊教育服务，MADDSP 确定有 2 名（2.7%）患有发育障碍。在 34 名经临床诊断患有代谢紊乱的儿童中，SEDMA 确定有 8 名（23.5%），MADDSP 确定有 5 名（17.2%）患有发育障碍。
早期识别和治疗已成功地限制了严重发育障碍的影响。需要继续进行监测和研究，以监测不太严重的发育结果。
