Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Eur Child Adolesc Psychiatry. 2013 Jan;22(1):23-33. doi: 10.1007/s00787-012-0312-7. Epub 2012 Jul 27.
The aim was to explore the frequency of genetic and other medical conditions, including epilepsy, in a population-based group of 208 preschool children with early diagnosis of Autism spectrum disorders (ASD) and to relate outcome at a 2-year follow-up to the co-existing medical findings. They had all received early intervention. The Vineland Adaptive Behaviour Scales (VABS-II) composite score served as the primary outcome measure. In the total group, 38/208 children (18 %) had a significant medical or genetic condition. Epilepsy was present in 6.3 % at the first assessment and in 8.6 % at follow-up and was associated with more severe intellectual impairment. A history of regression was reported in 22 %. Children with any medical/genetic condition, including epilepsy, as well as children with a history of regression had significantly lower VABS-II scores at the 2-year follow-up. Children with a medical/genetic condition, including epilepsy, had been diagnosed with ASD at an earlier age than those without such conditions, and early age at diagnosis also correlated negatively with adaptive functioning outcome. The results underscore the importance of considering medical/genetic aspects in all young children with ASD and the requirement to individualize and tailor interventions according to their specific needs.
目的是探索在一个基于人群的 208 名学前儿童群体中，患有早期自闭症谱系障碍（ASD）的儿童中遗传和其他医学状况（包括癫痫）的频率，并将 2 年随访时的结果与共存的医学发现相关联。他们都接受了早期干预。Vineland 适应行为量表（VABS-II）综合评分是主要的结果衡量标准。在总群体中，38/208 名儿童（18%）存在重大医疗或遗传状况。首次评估时癫痫的发病率为 6.3%，随访时为 8.6%，与更严重的智力障碍相关。有 22%的儿童有倒退史。有任何医疗/遗传状况（包括癫痫）的儿童以及有倒退史的儿童在 2 年随访时的 VABS-II 评分明显较低。有医疗/遗传状况（包括癫痫）的儿童被诊断为 ASD 的年龄比没有这些状况的儿童更早，早期诊断也与适应功能结果呈负相关。研究结果强调了在所有患有 ASD 的幼儿中考虑医学/遗传学方面的重要性，以及根据其特定需求对干预措施进行个体化和定制的必要性。
