Santoro Lucia, Ficcadenti Anna, Zallocco Federica, Del Baldo Giada, Piraccini Francesca, Gesuita Rosaria, Ceccarani Patrizia, Gabrielli Orazio
Division of Pediatrics, Department of Clinical Sciences, Salesi Hospital, Polytechnic University of Marche, Ancona, Italy.
Am J Med Genet A. 2014 Dec;164A(12):3042-51. doi: 10.1002/ajmg.a.36758. Epub 2014 Sep 24.
Since 2005, the Pediatric Clinic of Maternal-Infantile Sciences Institute in Ancona, in collaboration with the Lega del Filo d'Oro in Osimo, has been taking care of 35 patients with clinical and molecular diagnosis of CHARGE syndrome. Our investigation is the largest Italian cohort study of CHARGE patients. CHARGE syndrome is a multiple malformation syndrome involving ocular coloboma, heart defects, choanal atresia, retardation of growth and\or development, genital anomalies and\or urinary and ear abnormalities which leads to visual-auditory disabilities, cognitive impairment and behavioral abnormalities. Our purpose is to expand the knowledge of this syndrome by reviewing this group of affected patients in order to delineate in detail the natural history of the disease, and in particular to define the cognitive and motor profiles using an Italian questionnaire called "Progress Guide". Our main results show that Italian CHARGE patients have more delayed development in their physical abilities or skills with respect to normal patients. In particular, the delay is statistically significant in regard to self-care skills (worse toileting, better washing) and the communication skill (language). On the other hand, the expressive skills are still preserved. When patients are considered according to their age (≤3 years) and (>3 years), the older ones have more delayed development than the younger ones when compared with healthy individuals of the same age.
自2005年以来，安科纳母婴科学研究所儿科诊所与奥西莫的金缕梅协会合作，一直在照料35名经临床和分子诊断患有CHARGE综合征的患者。我们的调查是意大利针对CHARGE患者的最大队列研究。CHARGE综合征是一种多畸形综合征，涉及眼裂、心脏缺陷、后鼻孔闭锁、生长和/或发育迟缓、生殖器异常和/或泌尿及耳部异常，可导致视听残疾、认知障碍和行为异常。我们的目的是通过回顾这组受影响患者来扩展对该综合征的认识，以便详细描述疾病的自然史，特别是使用一份名为“进展指南”的意大利问卷来定义认知和运动概况。我们的主要结果表明，意大利CHARGE患者在身体能力或技能方面的发育比正常患者更迟缓。特别是，在自我护理技能（如厕较差、洗漱较好）和沟通技能（语言）方面，这种迟缓具有统计学意义。另一方面，表达技能仍得以保留。当根据患者年龄（≤3岁）和（>3岁）进行考量时，与同龄健康个体相比，年龄较大的患者发育迟缓程度比年龄较小者更严重。
