Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Roma, Italy.
Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.
J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24.
Koolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 deletions or mutations in . It was mainly described in children.
A retrospective study on 9 subjects aged 19-45 years and revision of 18 literature patients, with the purpose to get insights into the phenotypic evolution with time, and into the clinical manifestations in adulthood.
Seven patients had a 17q21.31 deletion and two a point mutation in . All had intellectual disability, which was mild in five (56%) and moderate in four (44%). Epilepsy was diagnosed in four subjects (44%), with onset from 1 to 7 years and full remission before 9 years in 3/4 patients. Scoliosis affected seven individuals (77.7%) and it was substantially stable with age in 5/7 patients, allowing for simple daily activities. Two subjects had severely progressive scoliosis, which was surgically corrected. Overweight or true obesity did occur after puberty in six patients (67%). Behaviour abnormalities were recorded in six patients (67%). The facial phenotype slightly evolved with time to include thick eyebrows, elongated nose and pronounced pointed chin. Despite behaviour abnormalities, happy disposition and sociable attitudes were common. Half of patients had fluent language and were good at writing and reading. Rich language, although limited to single words or short sentences, and very limited or absent skills in writing and reading were observed in the remaining patients. Autonomy in daily activities and personal care was usually limited.
Distinctive features in adult KdVS subjects include intellectual disability, overweight/obesity, behaviour abnormalities with preserved social interest, ability in language, slight worsening of the facial phenotype and no seizures.
Koolen-de Vries 综合征（KdVS）是一种多系统神经发育障碍，由 17q21.31 缺失或 引起。它主要在儿童中描述。
对 9 名年龄在 19-45 岁的患者进行回顾性研究，并对 18 篇文献中的 18 例患者进行修订，目的是深入了解随着时间的推移表型演变，以及成年后的临床表现。
7 例患者存在 17q21.31 缺失，2 例存在 中的点突变。所有患者均有智力障碍，其中 5 例（56%）为轻度，4 例（44%）为中度。4 例（44%）患者诊断为癫痫，发病年龄为 1-7 岁，3/4 例患者在 9 岁前完全缓解。7 例（77.7%）患者患有脊柱侧凸，5/7 例患者随年龄增长脊柱侧凸基本稳定，可进行日常简单活动。2 例患者脊柱侧凸严重进展，需手术矫正。6 例（67%）患者在青春期后出现超重或真正肥胖。6 例（67%）患者记录到行为异常。尽管存在行为异常，但患者通常表现出快乐和善于社交的态度。有一半的患者语言流利，擅长写作和阅读。其余患者语言丰富，但仅限于单个单词或短句子，且在写作和阅读方面的能力非常有限或缺失。日常生活和个人护理的自主性通常受到限制。
成年 KdVS 患者的特征包括智力障碍、超重/肥胖、存在社交兴趣的行为异常、语言能力、面部表型略有恶化和无癫痫发作。
