Reilly C, Senior J, Murtagh L
Young Epilepsy Research Department, Lingfield, UK; School of Education, University College Dublin, Dublin, Ireland.
J Intellect Disabil Res. 2015 Apr;59(4):307-18. doi: 10.1111/jir.12147. Epub 2014 Jun 25.
There are a number of neurogenetic syndromes with well described behavioural phenotypes including fragile X syndrome, Prader-Willi syndrome, Williams syndrome and velo-cardio-facial syndrome (VCFS). Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) and psychiatric conditions are often associated with the syndromes.
Parents (n = 381) of school-aged children with one of the four syndromes in the UK and Ireland were asked whether their child had been professionally diagnosed with ASD, ADHD or a mental health condition. Parents were also asked whether their child had been prescribed medication for behavioural or psychiatric reasons.
The highest level of reported diagnoses of ASD and ADHD was in fragile X syndrome. In all syndrome groups, lower rates of diagnosis were reported in comparison to previously published research. Prescribing of medication for behavioural/psychiatric reasons was highest in fragile X syndrome although the highest usage of melatonin was in Williams syndrome.
Reasons for a lower recognition of ASD, ADHD and mental health conditions in clinical practice compared with research studies may include 'diagnostic overshadowing' due to presence of intellectual disability and a genetic syndrome. However, there may also be a lack of belief in the utility of such diagnoses in neurogenetic syndromes among relevant professionals and/or lack of access to professionals with sufficient expertise in the recognition of such diagnoses in those with neurogenetic syndromes. The low rates of prescribing of medication for behavioural/psychiatric reasons may reflect the low level of clinical diagnoses or lack of belief in the utility of psychopharmacology in this population.
有许多神经遗传综合征具有描述详尽的行为表型，包括脆性X综合征、普拉德-威利综合征、威廉姆斯综合征和腭心面综合征（VCFS）。自闭症谱系障碍（ASD）、注意力缺陷多动障碍（ADHD）和精神疾病常与这些综合征相关。
在英国和爱尔兰，对患有上述四种综合征之一的学龄儿童的父母（n = 381）进行询问，了解他们的孩子是否被专业诊断患有ASD、ADHD或心理健康问题。还询问父母他们的孩子是否因行为或精神方面的原因而被开过药。
报告的ASD和ADHD诊断率最高的是脆性X综合征。与先前发表的研究相比，所有综合征组的诊断率均较低。因行为/精神方面的原因开药的比例在脆性X综合征中最高，不过褪黑素的使用量在威廉姆斯综合征中最高。
与研究相比，临床实践中对ASD、ADHD和心理健康问题的识别率较低，原因可能包括由于存在智力残疾和遗传综合征导致的“诊断遮蔽”。然而，相关专业人员可能也不相信在神经遗传综合征中进行此类诊断的效用，和/或缺乏在识别神经遗传综合征患者此类诊断方面有足够专业知识的专业人员。因行为/精神方面的原因开药的比例较低，可能反映出临床诊断水平较低，或者不相信精神药理学在这一人群中的效用。
