PDF(Pubmed)
Abstract：
OBJECTIVE: 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.
METHODS: 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 (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression.
CONCLUSIONS: The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life.
METHODS: 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 (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression.
CONCLUSIONS: The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life.
摘要：
目的：言语和语言障碍是神经发育遗传病Kleefstra综合征的核心特征。尚未对交流进行系统检查以指导干预建议。我们定义演讲，Kleefstra综合征患者的语言和认知表型谱。
方法：103名Kleefstra综合征患者（40名男性，中位年龄9.5岁，范围1-43年)具有致病性变异(529q34.3缺失，50个基因内变异，包括1个平衡易位)。演讲,评估了语言和非语言交流。Cognitive,获得了健康和神经发育数据。
结果：认知范围从平均智力（12/79，15％）到严重智力障碍（12/79，15％）。语言能力也从平均智力（10/90，11％）到严重的智力残疾（53/90，59％）。言语障碍发生在48/49（98％）的言语个体中，甚至与平均语言和认知一起发生。发育消退发生在11/80(14%)个体中，语言和心理社会领域。通信辅助设备,如符号和语音生成设备，对61/103（59％）的人至关重要，包括那些语言最少的人，有言语障碍或退步。
结论：演讲，Kleefstra综合征的语言和认知特征广泛，从严重损害到平均能力。基因型和年龄不能解释表型变异性。尽早获得通信辅助设备可以改善通信和生活质量。
方法：103名Kleefstra综合征患者（40名男性，中位年龄9.5岁，范围1-43年)具有致病性变异(529q34.3缺失，50个基因内变异，包括1个平衡易位)。演讲,评估了语言和非语言交流。Cognitive,获得了健康和神经发育数据。
结果：认知范围从平均智力（12/79，15％）到严重智力障碍（12/79，15％）。语言能力也从平均智力（10/90，11％）到严重的智力残疾（53/90，59％）。言语障碍发生在48/49（98％）的言语个体中，甚至与平均语言和认知一起发生。发育消退发生在11/80(14%)个体中，语言和心理社会领域。通信辅助设备,如符号和语音生成设备，对61/103（59％）的人至关重要，包括那些语言最少的人，有言语障碍或退步。
结论：演讲，Kleefstra综合征的语言和认知特征广泛，从严重损害到平均能力。基因型和年龄不能解释表型变异性。尽早获得通信辅助设备可以改善通信和生活质量。
