Disability Awareness Education and Implications for Genetic Counselor Training

The genetic counseling (GC) community has faced criticism concerning the duality of promoting patient autonomy while advocating for individuals with disabilities. Research suggests that focusing on the education of GC students could ensure GCs feel prepared to have conversations about disability, as well as strengthen the relationship with the disability community. This study aimed to evaluate the landscape of GC disability awareness education to identify gaps and strengths. The study also aimed to assess attitudes and perspectives of GCs and the disability community to identify content that should be included in GC student’s disability awareness curriculum. GCs and members of the disability community completed an electronic survey with questions unique to each cohort. A total of 76 responses from the GC community and 596 responses from the disability community were analyzed. Most of the GC cohort reported receiving disability awareness training as a student (86%), however, variation was seen in the types of experiences offered by GC graduate programs. Most GC participants (71%) felt they received adequate knowledge of disability topics. However, a discrepancy was revealed when 89% of GC participants reported feeling comfortable discussing medical aspects of disability while only 65% reported feeling comfortable discussing social and lifestyle aspects of disability. Members of the disability community reported consistent perceptions which highlights a gap in GC training and indicates the need for additional guidance in creating disability awareness curriculum. For curriculum content recommendations, both GCs and the disability community agree on the importance of emphasizing four key aspects of disability including medical, social and lifestyle, lived experience, and the disability rights movement. Participants of both cohorts stressed the inclusion of exposure to persons with disabilities, understanding of the lived experience of persons with disabilities, and familiarity with support and resources. The disability community identified additional content that they felt was important to be included such as empathy training, family hardships, and mental health. While many of these factors are already included in GC training, it emphasizes the need to address these factors in disability awareness curriculum. Results from this study highlight the importance of providing a comprehensive curriculum structure for GC programs and the need for the creation of an accessible disability awareness education toolkit to minimize potential challenges with standardization

Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: A web-based panel discussion

While the prevalence of genetic disorders has been well documented in the Muslim-majority, low-socioeconomic country of Pakistan, the provision of medical genetic services remains limited and cost-prohibitive to the masses in the country. With the objective of identifying gaps in the provision of medical genetics services as perceived by the healthcare providers and the general public, the Pakistani Society of Medical Genetics and Genomics (PSMG) organized a needs assessment webinar on December 6, 2020, titled, A Vibrant Discussion on the Current Status and Future Needs of Medical Genetic Services in Pakistan. The objectives of the webinar were (1) to explore the current availability of medical genetics services, (2) to identify areas in clinical genetics delivery models needed to improve the state of medical genetics in the country, and (3) to garner the interest in such provisions from the expert and lay audience. The webinar consisted of a moderator-led, structured interview of an expert panel including the following topics: (1) postgraduate clinical genetics and genetic counseling training programs, (2) medical genetics clinics and formal genetic counseling services), (3) clinical genetic testing and (4) patient support and advocacy groups. The webinar was followed by a short, web-based survey completed by 35 of the 60 attendees. The results of this survey indicated overwhelming support for establishing formal genetic counseling educational opportunities (91.6%) and increasing the availability of genetic testing (100%). This report further summarizes the opinions and recommendations of the panelists and the audience survey results

Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin

Abstract Arginase deficiency (ARG1‐D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1‐D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein avoidance, and seizures. Patients who present atypically may evade diagnosis and require a thoughtful diagnostic workup. Here, we discuss three females of Latin American origin with differing clinical presentations, but who all have the same intronic pathogenic variant in ARG1. Importantly, we found that each case included elevated coagulopathy on laboratory testing and discussed one case in particular with manifestation of bleeding. When diagnosed early, treatment is favorable and can prevent progressive decline. While many states have added ARG1‐D to their expanded newborn screening panels, still many states and countries do not screen for ARG1‐D, and it can be missed in a healthy newborn. We aim to bring awareness to not only the classic presentation as a necessary consideration for otherwise unexplained spastic diplegia but also to the varied presentations of ARG1‐D

Identification of novel candidate disease genes from de novo exonic copy number variants

Background: Exon-targeted microarrays can detect small ( Methods: We retrospectively analyzed data from 63,127 patients referred for clinical chromosomal microarray analysis (CMA) at Baylor Genetics laboratories, including 46,755 individuals tested using exon-targeted arrays, from 2007 to 2017. Small CNVs harboring a single gene or two to five non-disease-associated genes were identified; the genes involved were evaluated for a potential disease association. Results: In this clinical population, among rare CNVs involving any single gene reported in 7200 patients (11%), we identified 145 de novo autosomal CNVs (117 losses and 28 intragenic gains), 257 X-linked deletion CNVs in males, and 1049 inherited autosomal CNVs (878 losses and 171 intragenic gains); 111 known disease genes were potentially disrupted by de novo autosomal or X-linked (in males) single-gene CNVs. Ninety-one genes, either recently proposed as candidate disease genes or not yet associated with diseases, were disrupted by 147 singlegene CNVs, including 37 de novo deletions and ten de novo intragenic duplications on autosomes and 100 X-linked CNVs in males. Clinical features in individuals with de novo or X-linked CNVs encompassing at most five genes (224 bp to 1.6 Mb in size) were compared to those in individuals with larger-sized deletions (up to 5 Mb in size) in the internal CMA database or loss-of-function single nucleotide variants (SNVs) detected by clinical or research whole-exome sequencing (WES). This enabled the identification of recently published genes (BPTF, NONO, PSMD12, TANGO2, and TRIP12), novel candidate disease genes (ARGLU1 and STK3), and further confirmation of disease association for two recently proposed disease genes (MEIS2 and PTCHD1). Notably, exon-targeted CMA detected several pathogenic single-exon CNVs missed by clinical WES analyses. Conclusions: Together, these data document the efficacy of exon-targeted CMA for detection of genic and exonic CNVs, complementing and extending WES in clinical diagnostics, and the potential for discovery of novel disease genes by genome-wide assay.Peer reviewe

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome:WNT signaling perturbation and phenotypic variability

Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia and distinctive facial and physical characteristics. To further explore the genetic heterogeneity, paralog contribution, and phenotypic variability of RS, we investigated a cohort of 22 individuals clinically diagnosed with RS from 18 unrelated families. Pathogenic or likely pathogenic variants in genes associated with RS or RS phenocopies were identified in all 22 individuals, including the first variant to be reported in DVL2. We retrospectively collected medical records of 16 individuals from this cohort and extracted clinical descriptions from 52 previously published cases. We performed Human Phenotype Ontology (HPO) based quantitative phenotypic analyses to dissect allele-specific phenotypic differences. Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles. Probands with biallelic NXN variants clustered together with the majority of probands carrying DVL1, DVL2, and DVL3 variants, demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS. While phenotypically similar diseases on the RS differential matched through HPO analysis, clustering using phenotype similarity score placed RS-associated phenotypes in a unique cluster containing WNT5A, FZD2, and ROR2 apart from non-RS-associated paralogs. Through human phenotype analyses of this RS cohort and OMIM clinical synopses of Mendelian disease, this study begins to tease apart specific biologic roles for non-canonical WNT-pathway proteins

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Purpose: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes. Methods: Clinical data was collected through an extensive web-based survey. Results: We included 44 patients with a variant in a CSS-associated gene and a prenatal phenotype; 9 of these patients have been reported before. Prenatal anomalies that were frequently observed in our cohort include hydrocephalus, agenesis of the corpus callosum, hypoplastic left heart syndrome, persistent left vena cava, diaphragmatic hernia, renal agenesis, and intrauterine growth restriction. Anal anomalies were frequently identified after birth in patients with ARID1A variants (6/14, 43%). Interestingly, pathogenic ARID1A variants were much more frequently identified in the current prenatal cohort (16/44, 36%) than in postnatal CSS cohorts (5%-9%). Conclusion: Our data shed new light on the prenatal phenotype of patients with pathogenic variants in CSS genes

La gestión emocional de los docentes de educación física

Treball Final de Grau en Mestre o Mestra de Educació Primària. Codi: MP1040. Curs acadèmic: 2016/2017El tema elegido para este TFG trata sobre la inteligencia emocional con el objetivo de analizar la gestión emocional del docente y cómo influye en la actitud de las niñas y los niños. Concretamente, ser capaces de afrontar ciertas situaciones y gestionar sus emociones de manera que las pueda afrontar de una forma ecológica para las partes implicadas, de forma que la clase pueda continuar con la dinámica adecuada, la cual comentaremos durante el trabajo. La razón por la cual se ha elegido este tema es porque hemos visto y vivenciado durante la estancia en prácticas en el CEIP Pio XII que, durante la clase de educación física, aparecen situaciones que pueden afectarnos emocionalmente a los docentes como personas que somos y puede repercutirnos en nuestra labor docente, concretamente, en el área de la educación física. Por ello, también proponemos una serie de herramientas y recomendaciones para ayudar a los docentes de educación física, para que como dice Elia López (2011, p.32) se fomente en las clases un clima afectivo, distendido y desinhibido. Para analizar la propuesta, se partirá de una puesta en práctica, que explicaremos, acerca del tema y en el análisis de nuestra conducta a la hora de impartir las clases para ver y analizar la actitud de los/as niños/as, durante las clases de expresión corporal en 6º curso, ya que, en la expresión corporal, como comentaremos es importante la parte emocional tanto del profesor como de los alumnos