Department of Paediatrics, Chhatrapati Shahuji Maharaj Medical University, Lucknow, India.
Dev Med Child Neurol. 2011 Feb;53(2):167-72. doi: 10.1111/j.1469-8749.2010.03823.x. Epub 2010 Nov 18.
To study the aetiology of intellectual disability in patients presenting to hospital and the diagnostic yield of a standardized examination.
Over a 1-year period, the first three children presenting to the paediatric outpatients department (OPD) on 2 selected weekdays with developmental delay, suspected intellectual disability, or school failure were enrolled for study if they satisfied standard definitions of global developmental delay (GDD), or intellectual disability as tested by scales for Indian children: Developmental Assessment for Indian Infants, Binet Karnat Test, and the Vineland Social Maturity Scale (Malin's Adaptation). Detailed history, and physical and neurological examinations were recorded. An algorithmic approach to investigations was followed. Also, neuroimaging, thyroid function, electroencephalograph, karyotyping, and studies for fragile-X syndrome were conducted. Aetiological diagnosis was considered established only if clinical features were supported by investigations. Clinical features associated with a successful aetiological diagnosis were computed.
A total of 122 children were enrolled in a cross-sectional analytic study (mean age 43.5 mo [SD 40.66]; 84 males, 38 females). Of these, a definite aetiology could be assigned in 66 children (54.1%); 17 prenatal, 38 perinatal/neonatal, and 11 postneonatal. Factors associated with reaching a definite diagnosis included younger age at presentation, presence of seizures, microcephaly, adverse neonatal events, and abnormal motor signs. Clinical history and examination gave important clues to the aetiology in 89 (72.9%) patients. Neuroimaging was abnormal in 91 out of 114 children, with aetiological findings in 48 children.
Perinatal/neonatal causes predominate as the cause of GDD or intellectual disability in India. The study highlights that a large majority of cases seen here were preventable.
研究在医院就诊的智力障碍患者的病因学和标准化检查的诊断效果。
在为期 1 年的时间里，在 2 个选定的工作日，儿科门诊（OPD）前 3 名出现发育迟缓、疑似智力障碍或学业失败的儿童，如果符合全球发育迟缓（GDD）或印度儿童量表测试的智力障碍的标准定义，则纳入研究：印度婴儿发育评估、比奈卡纳特测试和文兰社会成熟量表（马林适应）。记录详细的病史、体格检查和神经系统检查。采用算法方法进行检查。还进行了神经影像学、甲状腺功能、脑电图、核型分析和脆性 X 综合征研究。仅当临床特征得到检查支持时，才考虑确立病因诊断。计算了与成功病因诊断相关的临床特征。
共有 122 名儿童参加了一项横断面分析研究（平均年龄 43.5 个月[SD 40.66]；84 名男性，38 名女性）。其中，66 名儿童（54.1%）可以确定病因；17 名产前、38 名围产期/新生儿期和 11 名新生儿期后。与明确诊断相关的因素包括就诊时年龄较小、存在癫痫发作、小头畸形、不良新生儿事件和异常运动体征。临床病史和检查为 89 名（72.9%）患者提供了重要的病因线索。114 名儿童中有 91 名神经影像学异常，48 名儿童有病因发现。
围产期/新生儿期的原因是印度 GDD 或智力障碍的主要原因。该研究强调，这里大多数病例都是可以预防的。
