Familial recurrence of SOX2 anophthalmia syndrome:phenotypically normal mother with two affected daughters

The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10–15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common. The majority of SOX2 mutations identified appear to arise de novo in probands ascertained through the presence of anophthalmia or microphthalmia. In this report, we describe two sisters with bilateral anophthalmia/microphthalmia, brain anomalies and a novel heterozygous SOX2 gene single-base pair nucleotide deletion, c.551delC, which predicts p.Pro184ArgfsX19. The hypothetical protein product is predicted to lead to haploinsufficient SOX2 function. Mosaicism for this mutation in the SOX2 gene was also identified in their clinically unaffected mother in peripheral blood DNA. Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia /microphthalmia are de novo. Testing of parents is indicated when a SOX2 mutation is identified in a proband

THE COLLECTIVE PERCEPTIONS OF K-12 SPECIAL EDUCATION TEACHERS DURING THE COVID-19 PANDEMIC

In the spring of 2020, nearly every school aged student and K-12 teacher across the United States was forced to participate in remote educational activities online, prompting an unexpected departure from the status quo in public education. This was a result of government mandated social distancing practices, as a mitigation strategy for combating the global pandemic induced by the novel coronavirus. Most school districts were compelled to repurpose their daily practices by rapidly planning to ascertain resources for the implementation of an emergency remote education initiative. These unprecedented events presented many challenges for educators, especially given most had no formal training for conducting online instructional delivery utilizing various technologies. Special education teachers in particular confronted a unique set of challenges when considering how to support the complex needs of diverse learners. This included student support for engagement with access to technology, knowledge of various applied technological pedagogical skills, teacher preparation, technical training, ongoing professional support, interactions with stakeholders, and individual social emotional well-being. The purpose of this study was to determine how special education teachers perceived various aspects of their experiences, when teaching remotely during the COVID-19 pandemic. A survey was designed to measure these perceptions containing aligned items to the domains of the technological pedagogical and content knowledge (TPACK) framework. The COVID-19 Special Education Teacher Survey (C-SETS) was a 42 item questionnaire set on a 5-point Likert scale that contained an additional open-ended question. It was administered online and completed by 280 participants, across 46 states, primarily via a social media platform. While the results demonstrated that special education teachers overall were technically skilled, had increased communication with parents/caregivers, and gained skills for future practices, there was a significantly insufficient level of preparation, a deficit with various pedagogical skills using technology, less collaboration with IEP team members, inconsistent student engagement, varying access to technology, a lack of technical training, ongoing professional development and support, contributing to social emotional stress, anxiety and fatigue. Aspects of these findings were particularly evident in historically under resourced districts and those that did not participate in technology infrastructure initiatives, where an overwhelming majority of the statistically significant differences, with the exception of respondents' level of educational attainment, were attributed to school characteristics. Implications for future teacher preparation, technical training, ongoing professional development, and best practices are presented. Keywords: Special Education, COVID-19, Teacher Preparation, TPACK, Emergency Remote Education, Digital Divide, SEL, Educational Technology, Students with Disabilities, Technical Training, Professional Development, Social Media, Facebook, Pandemic, C-SETSSpecial Educatio

Family structures and adult romantic relationships

This study addressed the relations between childhood family structures and adult children\u27s romantic relationships. Research indicates that experiencing a parental divorce in itself does not cause strained romantic relationships. However, experiencing parental conflict, and lower levels of maternal and paternal involvement influence attachment style, which influences the quality of the romantic relationship regardless of parental marital status. Among 174 liberal arts-college students, parental conflict, paternal involvement, and maternal involvement were related to attachment style, which was related to the quality of the romantic relationship. Overall, there was no difference between adult children from divorced homes and adult children from non-divorced homes on relationship quality. However, there was a gender difference among adult children from both divorced and non-divorced homes, as women from divorced homes and men from non-divorced homes had lower relationship quality and men from divorced homes and women from non-divorced homes had higher relationship quality