Ashikin M N, Norazlin K N, Juriza I
Cyberjaya University College of Medical Sciences, Persiaran Bestari, Cyber 11, Cyberjaya, Selangor, Malaysia.
University Kebangsaan Malaysia Medical Centre. Jalan Yaacob Latiff, Bandar Tun Razak, Kuala Lumpur, Wilayah Persekutuan, Malaysia.
Med J Malaysia. 2022 Mar;77(2):137-142.
The main objective of this study was to determine the prevalence of Autism Spectrum Disorder (ASD) in Down Syndrome (DS) children attending the DS clinic at Child Development Centre Universiti Kebangsaan Malaysia Medical Centre (CDC-UKMMC) and to assess the appropriateness of using an M-CHAT as an ASD screener in this population. We traced the karyotype results of our study population from their medical record and compared this to study participant with a dual diagnosis of Down Syndrome- Autism Spectrum Disorder (DS-ASD). Lastly, we assessed the awareness among parents attending our DS follow up clinic regarding the possibility of an ASD diagnosis in DS children.
This a single-centre cross-sectional study among DS children aged 18-60 months who attend the DS follow up clinic in UKMMC. Overall, 24 children were recruited to our study. The accompanying parent was given the Modified Checklist for Autism in Toddlers (M-CHAT) questionnaire and a data collection sheet prior to their consultation. The chromosomal study was traced from their medical case notes. Children that were eligible for the study had their development assessed using the tool Schedule of Growing Skills II. The diagnosis of ASD was determined by the attending paediatrician using The Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) criteria.
The prevalence of dual diagnoses DS-ASD in our study population was 4.2%. Using M-CHAT as a screener, 8 children failed the M-CHAT, of whom only one was diagnosed with ASD. None of the children that passed the MCHAT was diagnosed with ASD. Only 17 chromosomal study results were available for analysis, 2 children had mosaic DS whereas the remaining was caused by non-disjunction; the only DS-ASD patient had non-disjunction. Regarding parental awareness of dual diagnoses of ASD and DS, about 60% of the parents attending UKMMC clinic were aware of the possibility of ASD-DS diagnosis.
Our results suggest that ASD prevalence in our DS study population is consistent with those previously reported, and that paediatricians managing DS children should be aware of the dual diagnoses of ASD and DS when managing these patients. Even though, we are unable to make a definitive conclusion regarding the use of M-CHAT in this population of children due to the very small sample size, possibly a multi-centre research in the future may help elucidate this issue.
本研究的主要目的是确定在马来西亚国立大学医学中心儿童发展中心唐氏综合征（DS）门诊就诊的唐氏综合征儿童中自闭症谱系障碍（ASD）的患病率，并评估使用《幼儿自闭症修正检查表》（M-CHAT）作为该人群ASD筛查工具的适用性。我们从病历中追踪了研究人群的核型结果，并将其与患有唐氏综合征-自闭症谱系障碍（DS-ASD）双重诊断的研究参与者进行比较。最后，我们评估了在我们的DS随访门诊就诊的家长对DS儿童患ASD可能性的认知情况。
这是一项在UKMMC的DS随访门诊对18至60个月大的DS儿童进行的单中心横断面研究。总共招募了24名儿童参与我们的研究。在咨询前，给陪同的家长发放了《幼儿自闭症修正检查表》（M-CHAT）问卷和一份数据收集表。从他们的病历中追溯染色体研究情况。符合研究条件的儿童使用《成长技能II时间表》工具进行发育评估。ASD的诊断由主治儿科医生根据《精神疾病诊断与统计手册》第5版（DSM-5）标准确定。
我们研究人群中DS-ASD双重诊断的患病率为4.2%。使用M-CHAT作为筛查工具，8名儿童M-CHAT筛查未通过，其中只有一名被诊断为ASD。所有通过M-CHAT筛查的儿童均未被诊断为ASD。仅17份染色体研究结果可供分析，2名儿童为嵌合型DS，其余由不分离所致；唯一的DS-ASD患者是由不分离引起的。关于家长对ASD和DS双重诊断的认知，约60%在UKMMC门诊就诊的家长知晓ASD-DS诊断的可能性。
我们的结果表明，我们的DS研究人群中ASD患病率与先前报道的一致，并且管理DS儿童的儿科医生在管理这些患者时应知晓ASD和DS的双重诊断。尽管由于样本量非常小，我们无法就M-CHAT在该儿童人群中的使用得出明确结论，但未来可能的多中心研究或许有助于阐明这一问题。
