Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2024-02-29 DOI:10.1002/ajmg.b.32971
Elana J. Forbes, Lottie D. Morison, Fatma Lelik, Tegan Howell, Simone Debono, Himanshu Goel, Pauline Burger, Jean-Louis Mandel, David Geneviève, David J. Amor, Angela T. Morgan
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Abstract

Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling and targeted therapies. Here, we characterized speech and language in 38 female individuals, aged 1.69–24.34 years, with pathogenic and likely pathogenic DDX3X variants (missense, n = 13; nonsense, n = 12; frameshift, n = 7; splice site, n = 3; synonymous, n = 2; deletion, n = 1). Standardized speech, language, motor, social, and adaptive behavior assessments were administered. All participants had gross motor deficits in infancy (34/34), and fine motor deficits were common throughout childhood (94%; 32/34). Intellectual disability was reported in 86% (24/28) of participants over 4 years of age. Expressive, receptive, and social communication skills were, on average, severely impaired. However, receptive language was significantly stronger than expressive language ability. Over half of the assessed participants were minimally verbal (66%; 22/33; range = 2 years 2 months–24 years 4 months; mean = 8 years; SD = 6 years) and augmented speech with sign language, gestures, or digital devices. A quarter of the cohort had childhood apraxia of speech (25%; 9/36). Despite speech and language impairments, social motivation was a relevant strength. Many participants used augmentative and alternative communication (AAC), underscoring the need for early, tailored, and comprehensive AAC intervention.

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DDX3X 神经发育障碍患者的言语和语言:呼吁早期进行辅助和替代性交流干预。
DDX3X 的致病变异与神经发育障碍有关。交流障碍是常见的报道,但具体的言语和语言诊断尚未确定,因此无法提供预后咨询和针对性治疗。在此,我们对 38 名年龄在 1.69-24.34 岁之间、患有致病性和可能致病性 DDX3X 变异(错义,n = 13;无义,n = 12;框移,n = 7;剪接位点,n = 3;同义,n = 2;缺失,n = 1)的女性患者的言语和语言特征进行了研究。对参与者进行了标准化的言语、语言、运动、社交和适应行为评估。所有受试者在婴儿期都有粗大运动障碍(34/34),精细运动障碍在整个儿童期都很常见(94%;32/34)。在 4 岁以上的参与者中,86%(24/28)有智力障碍。平均而言,表达、接受和社交沟通能力严重受损。然而,接受性语言能力明显强于表达性语言能力。在接受评估的参与者中,半数以上为最小言语障碍者(66%;22/33;范围 = 2 岁 2 个月-24 岁 4 个月;平均 = 8 岁;标准差 = 6 岁),他们通过手语、手势或数字设备来增强语言能力。四分之一的患者患有儿童语言障碍(25%;9/36)。尽管存在言语和语言障碍,但社交动机却是他们的优势。许多参与者都使用了辅助和替代性交流(AAC),这说明需要对辅助和替代性交流进行早期、有针对性和全面的干预。
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来源期刊
CiteScore
5.90
自引率
7.10%
发文量
40
审稿时长
4-8 weeks
期刊介绍: Neuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG) , provides a forum for experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. It is a resource for novel genetics studies of the heritable nature of psychiatric and other nervous system disorders, characterized at the molecular, cellular or behavior levels. Neuropsychiatric Genetics publishes eight times per year.
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