Oskarsdóttir Sólveig, Persson Christina, Eriksson Bengt O, Fasth Anders
Department of Paediatrics, The Queen Silvia Children's Hospital, SE-416 85 Göteborg, Sweden.
Eur J Pediatr. 2005 Mar;164(3):146-53. doi: 10.1007/s00431-004-1577-8. Epub 2004 Nov 23.
The aim of this study was to investigate and describe the presenting phenotype of children with the 22q11 deletion syndrome and to describe common clinical features that could serve as guidelines in the clinical diagnostic process preceding genetic testing. A hospital-based study of 100 consecutive children and adolescents with 22q11 deletion was initiated. The patients were divided into two groups according to age at diagnosis: before or after 2 years of age. Clinical features were grouped into a core set of eight features: cardiac defects, non-visible/hypoplastic thymus or infection problems, hypocalcaemia, feeding difficulties, cleft palate/speech-language impairment, developmental delay/learning difficulties, characteristic dysmorphic features and other malformations and deformities. The median age at diagnosis was 6.7 years. Of all patients, 26% were diagnosed in infancy and 92% had a congenital cardiac defect, whereas 54% of those diagnosed later had a cardiac defect. A cleft palate was present in 25 cases and 44 had some other malformation or deformity. All presented with a combination of many of the core features. Of those diagnosed after 2 years of age, the majority presented with speech-language impairment, developmental delay or learning difficulties and recurrent infections. Characteristic mild dysmorphic features were noticed in all children.
In spite of variable clinical expression, children with 22q11 deletion share a number of major features and have a characteristic phenotype. A high proportion have no cardiac defect and hence a risk of diagnostic delay. Increased awareness and knowledge among general paediatricians and other specialists who meet these children early in life is needed to reduce the diagnostic delay.
本研究的目的是调查和描述22q11缺失综合征患儿的临床表现型，并描述可作为基因检测前临床诊断过程指导的常见临床特征。启动了一项基于医院的研究，纳入100例连续的22q11缺失患儿及青少年。根据诊断时的年龄将患者分为两组：2岁之前或之后。临床特征分为一组八项核心特征：心脏缺陷、不可见/发育不全的胸腺或感染问题、低钙血症、喂养困难、腭裂/语言障碍、发育迟缓/学习困难、特征性畸形特征以及其他畸形和变形。诊断时的中位年龄为6.7岁。所有患者中，26%在婴儿期被诊断，92%有先天性心脏缺陷，而后期诊断的患者中有54%有心脏缺陷。25例有腭裂，44例有其他一些畸形或变形。所有患者均表现出多种核心特征的组合。2岁之后诊断的患者中，大多数表现为语言障碍、发育迟缓或学习困难以及反复感染。所有儿童均有特征性轻度畸形特征。
尽管临床表现存在差异，但22q11缺失患儿有许多主要特征并具有特征性表型。很大一部分患儿没有心脏缺陷，因此有诊断延迟的风险。需要提高普通儿科医生和其他在患儿生命早期接触到这些患儿的专科医生的认识和知识，以减少诊断延迟。
