Pessoa Andre Luiz Santos, Quesada Andrea Amaro, Nóbrega Paulo Ribeiro, Viana Ana Priscila Oliveira, de Oliveira Kécia Tavares, Figueiredo Thalita, Santos Silvana, Kok Fernando
Albert Sabin Children's Hospital, Fortaleza 60410-794, Brazil.
Faculty of Medicine, State University of Ceará (UECE), Fortaleza 60714-903, Brazil.
Brain Sci. 2023 Jul 10;13(7):1048. doi: 10.3390/brainsci13071048.
Biallelic loss of function of causes autosomal recessive intellectual developmental disorder 59 (MRT59, OMIM #617323). MRT59 has been reported to present with significant intellectual disability and disruptive behavior, but little is known about the neurocognitive pattern of those patients. Thus, the aims of this study were: (1) to assess the cognitive profile of these patients, and (2) to evaluate their functional dependence levels. Eighteen adults, aged 37 to 89 years, participated in this study: nine MRT59 patients, five heterozygous carriers and four non-carrier family members. All of them were from a consanguineous family living in Northeast Brazil. All patients had the (c.489_493dupGGGCT) pathogenic variant in homozygosis. For cognitive assessment, the WASI battery was applied in nine MRT59 patients and compared to heterozygous carriers and non-carrier family members. Functional dependence was evaluated using the functional independence measure (FIM). Patients showed moderate to severe intellectual disability and severe functional disabilities. Heterozygous carriers did not differ from non-carriers. MRT59 patients should be followed up by health professionals in an interdisciplinary way to understand their cognitive disabilities and functional needs properly.
基因双等位基因功能丧失导致常染色体隐性智力发育障碍59型（MRT59，OMIM编号#617323）。据报道，MRT59患者存在显著智力残疾和破坏性行为，但对这些患者的神经认知模式知之甚少。因此，本研究的目的是：（1）评估这些患者的认知概况，以及（2）评估他们的功能依赖水平。18名年龄在37至89岁之间的成年人参与了本研究：9名MRT59患者、5名杂合子携带者和4名非携带者家庭成员。他们均来自巴西东北部的一个近亲家庭。所有患者均为纯合子（c.489_493dupGGGCT）致病变体。为进行认知评估，对九名MRT59患者应用韦氏成人智力量表简式版（WASI），并与杂合子携带者和非携带者家庭成员进行比较。使用功能独立性测量（FIM）评估功能依赖情况。患者表现出中度至重度智力残疾和严重功能残疾。杂合子携带者与非携带者无差异。卫生专业人员应以跨学科方式对MRT59患者进行随访，以正确了解他们的认知残疾和功能需求。
