医学合并症对唐氏综合征儿童神经发育特征的影响

Yaşar Tanır, Selçuk Özkan
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摘要

背景:唐氏综合症(DS)是最常见的遗传异常之一,大约每700例活产婴儿中就有一例唐氏综合症,这是由于21号染色体(21三体)过多而导致的。退行性痴呆儿童的认知发育一般处于中度至重度发育迟缓的范围内,智力年龄很少超过8岁。本研究旨在探讨1-6岁儿童退行性椎体滑移的神经发育特点及其与共病病理的关系。材料与方法:将83例申请儿童青少年心理健康门诊就诊的DS患儿纳入研究,分析社会人口学、病史与神经发育特征之间的关系。丹佛II发育筛选试验用于评估他们的发育。评估四个方面:大肌肉运动发展、精细运动发展、语言认知发展和个人社会发展。结果:退行性椎体滑移患儿合并症发生率为75.9%,其中心脏38例,甲状腺功能障碍17例,癫痫8例。在丹佛II发育筛选测试得分方面,性别之间没有统计学上的显著差异。患有甲状腺功能减退症的儿童在所有领域的丹佛II发育筛查测试得分都明显较低。其他医学合并症对丹佛II发育筛查测试分数没有显著影响。结论:退行性椎体滑移患儿伴发的内科疾病可能影响患儿的发育。因此,早期诊断和治疗这些疾病是至关重要的。由于甲状腺功能减退症对儿童发育的负面影响,在治疗和密切随访这些儿童时应注意。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Effects of Medical Comorbidities on Neurodevelopmental Features in Children with Down Syndrome
Background: Down Syndrome (DS) is one of the most common genetic anomalies observed in approximately one out of 700 live births, which occurs as a result of an excess of chromosome 21 (trisomy 21). Cognitive development in DS children is generally in the range of moderate to severe retardation, and mental age is rarely above eight years. The aim of this study is to investigate the neurodevelopmental characteristics of children with DS between the ages of 1-6 and their relationship with comorbid medical pathologies. Materials and Methods: A total of 83 DS children who applied to the child and adolescent mental health outpatient unit, were included in the study, and the relationships between sociodemographic and medical histories and neurodevelopmental characteristics were analyzed. Denver II Developmental Screening Test was used to evaluate their development. Four areas were evaluated: gross motor development, fine motor development, language-cognitive development and personal-social development. Results: The rates of medical comorbidities in children with DS was 75.9% (38 had heart problems, 17 had thyroid dysfunction, and 8 had epilepsy). There was no statistically significant difference between genders in terms of Denver II Developmental Screening Test scores. Children with hypothyroidism have significantly lower Denver II Developmental Screening Test scores in all domains. Other medical comorbidities did not have a significant effect on Denver II Developmental Screening Test scores. Conclusions: Concomitant medical diseases in children with DS may affect the development of the child. Therefore, early diagnosis and treatment of these conditions is essential. Due to the negative effects of hypothyroidism on the development of children, care should be taken in the treatment and close follow-up of these children.
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