de Groot-van der Mooren M D, Gemke R J B J, Cornel M C, Weijerman M E
Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands.
J Intellect Disabil Res. 2014 Oct;58(10):953-61. doi: 10.1111/jir.12125. Epub 2014 Mar 14.
To analyse which dysmorphic features are most recognised in newborns with Down syndrome (DS). Furthermore to evaluate the communication techniques used by clinicians to inform parents about the postnatal diagnosis and compare these to current best practice guidelines.
Prospective study of a birth cohort of newborns with DS born between 1 January 2003 and 31 December 2006 registered by the Dutch Paediatric Surveillance Unit (DPSU).
A total of 586 children with trisomy 21 were analysed. Most recognised dysmorphic features in DS newborns were 'upslanted palpebral fissures' (74.1%; n = 426), 'hypotonia' (73.7%; n = 424) and 'epicanthic folds' (68.5%; n = 394). The majority of parents were informed about the suspected diagnosis on the day of birth (76.5%; n = 390). Hospital deliveries had a significantly earlier suspected diagnosis (mean age 3-4 days) compared with home deliveries (mean age 7 days) (P < 0.05). In 10% (n = 44), paediatricians described dissatisfaction with the first conversation with parents. In 88.9% (n = 499) parents were both present when the diagnosis was told, however the child was not present during the conversation in 51.3% (n = 288). In 10.8% (n = 61) parents were not informed about local parent support groups or community resources.
DS is still often diagnosed after birth, usually on the first day of postnatal life. Most identified clinical features were upslanted palpebral fissures, epicanthic folds and hypotonia. Special attention for recognition of all present clinical features is needed for early diagnosis. Appropriate communication with the parents of the message that their child has DS can be difficult. Guidelines can help to make counselling easier and more effective, which in turn may increase parental satisfaction. Not all recommendations for the first conversation with parents were fully implemented in Dutch clinical practice.
分析唐氏综合征（DS）新生儿中最易识别的畸形特征。此外，评估临床医生用于告知家长产后诊断的沟通技巧，并将其与当前最佳实践指南进行比较。
对荷兰儿科监测单位（DPSU）登记的2003年1月1日至2006年12月31日出生的DS新生儿出生队列进行前瞻性研究。
共分析了586例21三体患儿。DS新生儿中最易识别的畸形特征为“上斜睑裂”（74.1%；n = 426）、“肌张力低下”（73.7%；n = 424）和“内眦赘皮”（68.5%；n = 394）。大多数家长在出生当天被告知疑似诊断（76.5%；n = 390）。与家庭分娩（平均年龄7天）相比，医院分娩的疑似诊断明显更早（平均年龄3 - 4天）（P < 0.05）。10%（n = 44）的儿科医生表示对与家长的首次谈话不满意。88.9%（n = 499）的家长在被告知诊断时都在场，但51.3%（n = 288）的谈话过程中孩子不在场。10.8%（n = 61）的家长未被告知当地的家长支持小组或社区资源。
DS通常仍在出生后诊断，通常是在出生后的第一天。最常见的临床特征是上斜睑裂、内眦赘皮和肌张力低下。早期诊断需要特别关注识别所有存在的临床特征。向家长传达其孩子患有DS这一信息时，进行恰当沟通可能会有困难。指南有助于使咨询更容易且更有效，进而可能提高家长满意度。荷兰临床实践中并非所有关于与家长首次谈话的建议都得到了充分落实。
