Ho Stephanie KL, Tsang Mandy HY, Lee Mianne, Cheng Shirley SW, Luk Ho-ming, Lo Ivan FM, Chung Brian HY
Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, China
Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, University of Hong Kong, Hong Kong Special Administrative Region, China
neurodevelopmental disorder (-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in up to 39% of reported individuals by exudative vitreoretinopathy, an ophthalmologic finding consistent with familial exudative vitreoretinopathy (FEVR). Other common findings include truncal hypotonia, peripheral spasticity, dystonia, behavior problems, microcephaly, and refractive errors and strabismus. Less common features include intrauterine growth restriction, feeding difficulties, and scoliosis.
DIAGNOSIS/TESTING: The diagnosis of -NDD is established in a proband with suggestive findings and a heterozygous pathogenic variant in identified by molecular genetic testing
There is no curative treatment. Supportive care by a multidisciplinary team often includes a neurologist, speech-language pathologist, physiatrist, occupational therapist, physical therapist, feeding team, pediatric ophthalmologist, audiologist, and developmental pediatrician. Monitor neurologic findings for response to supportive interventions and emergence of new findings or concerns regarding developmental/educational progress, behavior issues, ophthalmologic findings and vision, and family support.
-NDD is an autosomal dominant disorder typically caused by a pathogenic variant. Rarely, individuals diagnosed with -NDD inherited a pathogenic variant from a parent. Once the pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.
神经发育障碍（-NDD）在所有个体中都表现为轻度至重度认知障碍，在多达39%的报告个体中表现为渗出性玻璃体视网膜病变，这是一种与家族性渗出性玻璃体视网膜病变（FEVR）一致的眼科发现。其他常见发现包括躯干肌张力减退、外周痉挛、肌张力障碍、行为问题、小头畸形、屈光不正和斜视。较少见的特征包括宫内生长受限、喂养困难和脊柱侧弯。
诊断/检测：通过分子遗传学检测在具有提示性发现且鉴定出杂合致病性变异的先证者中确立-NDD的诊断。
没有治愈性治疗方法。多学科团队提供的支持性护理通常包括神经科医生、言语语言病理学家、物理医学与康复医生、职业治疗师、物理治疗师、喂养团队、儿科眼科医生、听力学家和发育儿科医生。监测神经学发现，以了解对支持性干预的反应以及是否出现有关发育/教育进展、行为问题、眼科发现和视力以及家庭支持的新发现或问题。
-NDD是一种常染色体显性疾病，通常由致病性变异引起。很少有被诊断为-NDD的个体从父母那里遗传到致病性变异。一旦在受影响的家庭成员中鉴定出致病性变异，就可以进行产前和植入前基因检测。
