作者
Lottie D Morison, Milou GP Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth Palmer, Adam P Vogel, Frederique Liegeois, Amanda Brignell, Siddharth Srivastava, Zoe Frazier, Di Milnes, Himanshu Goel, David J Amor, Ingrid E Scheffer, Tjitske Kleefstra, Angela T Morgan
发表日期
2024/6/1
期刊
Journal of medical genetics
卷号
61
期号
6
页码范围
578-585
出版商
BMJ Publishing Group Ltd
简介
Objectives
Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome.
Method
103 individuals with Kleefstra syndrome (40 males, median age 9.5 years, range 1–43 years) with pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, language and non-verbal communication were assessed. Cognitive, health and neurodevelopmental data were obtained.
Results
The cognitive spectrum ranged from average intelligence (12/79, 15%) to severe intellectual disability (12/79, 15%). Language ability also ranged from average intelligence (10/90, 11%) to severe intellectual disability (53 …
学术搜索中的文章
LD Morison, MGP Kennis, D Rots, A Bouman… - Journal of medical genetics, 2024