■PTEN错构瘤肿瘤综合征(PRTS)是一种罕见的遗传病,由磷酸酶和张力蛋白同源(PTEN)基因的种系突变引起,其表型包括大头畸形,癌症易感性,发育迟缓,自闭症谱系障碍(ASD)的风险增加,和学习困难。表征神经行为特征的研究是有限的。
■这个单站点,回顾性病例系列是在癌症易感性诊所接受PHTS的儿童中完成的。人口统计学和临床,从12例患者的病历中提取数据(进入诊所时的平均年龄=8.83岁;42%为女性).提取了12例接受测试的患者中的3例的神经心理学数据(17岁女性患有注意力缺陷/多动障碍[ADHD];15岁男性患有学术问题和ASD,12岁男性,有学术问题)。
■在12名患者中,100%出现大头畸形,58%的人在儿童早期有发育迟缓,17%有ASD诊断。神经心理学测试的结果表明,全球智力功能的平均范围(标准分数范围:77至95)以及非言语推理的缺陷,视觉-运动整合,数学成绩,和照顾者等级的适应技能。
■患有PHTS的人可能会出现影响日常功能的认知困难,有或没有神经发育诊断。在管理指南中应考虑常规的神经认知评估。
UNASSIGNED: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare genetic condition caused by germline mutations in the phosphatase and tensin homologue (PTEN) gene with a phenotype that includes macrocephaly, cancer predisposition, developmental delay, increased risk for autism spectrum disorder (ASD), and learning difficulties. Studies characterizing neurobehavioral profiles are limited.
UNASSIGNED: This single-site, retrospective
case series was completed in children who have PHTS followed in a cancer predisposition clinic. Demographic and clinical, data were abstracted from the medical record for 12 patients (mean age at clinic entry = 8.83 years; 42% female). Neuropsychological data were abstracted for 3 of 12 patients that were referred for testing (17-year-old female with attention-deficit/hyperactivity disorder [ADHD]; 15-year-old male with academic concerns and ASD, 12-year-old male with academic concerns).
UNASSIGNED: Of the 12 patients, macrocephaly was present in 100%, 58% had developmental delays during early childhood, and 17% had an ASD diagnosis. Results from neuropsychological testing showed Borderline to Average range global intellectual functioning (Standard Score range: 77 to 95) along with deficits in non-verbal reasoning, visual-motor integration, math achievement, and caregiver-rated adaptive skills.
UNASSIGNED: Individuals with PHTS may present with cognitive difficulties that impact everyday functioning, with or without a neurodevelopmental diagnosis. Routine
neurocognitive assessment should be considered in management guidelines.