Children with mucopolysaccharidosis IIIA (MPS-IIIA) may receive a diagnosis of autism spectrum disorder (ASD) due to MPS-IIIA's initial symptom similarities with ASD. This may lead to professionals receiving referrals to work with these children but unaware of how these children may respond differently to treatment. To appropriately work with…

During the COVID-19 pandemic, various applications of genetics were used as a basis for studying the origin of the virus to diagnosing patients with this disease. Student literacy about COVID-19 from the genetic aspect will strengthen them in dealing with misinformation in a society that rejects the existence of COVID-19. This study aimed to…

Persons with rare, epilepsy-related disorders often have intellectual disability and need long-term care. Informal and formal caregivers need information in order to care for the persons in a safe way. Aims: The aims of this review were: (1) to obtain an overview of caregiver-reported information needs; and (2) to investigate if there are…

Sickle cell disease (SCD) is a lifelong chronic medical condition diagnosed through screening at birth. Complications of SCD can significantly burden affected children as they learn to manage their health needs. This study sought to investigate the perceived obstacles that may hinder children with SCD from receiving the necessary support and…

Students diagnosed with sickle cell disease (SCD) are eligible for special education services and benefit from advances in medical research that have extended the life expectancy of this population; however, there is a dearth of research on medical professionals' and PK-12 educators' awareness epistemological beliefs about pediatric sickle cell…

Objective: Evidence suggests the increased prevalence of diabetes among South Asian (SA) adolescents is due to their genetic risk profile. The South Asian Adolescent Diabetes Awareness Program (SAADAP) is a pilot intervention for SA youth in Canada with a family history of type 2 diabetes mellitus (T2DM). We sought to investigate changes in (1)…

There is emerging interest on the interactions between modelling and argumentation in specific contexts, such as genetics learning. It has been suggested that modelling might help students understand and argue on genetics. We propose modelling gene expression as a way to learn molecular genetics and diseases with a genetic component. The study is…

An increase in the number of children with speech-language pathology also having a genetic disorder imposes the need for speech and language pathologists (SLPs) to have sufficient knowledge about genetic basis of speech-language disorders. Research aim was to estimate in Serbian SLPs different aspects of theoretical and practical knowledge about…

Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and…

Introduction: The purpose of this study was to gain information from parents in the United States about their children with albinism. The article focuses on information and services related to medical care and low vision care. Methods: An online questionnaire was used to collect data, and parents had opportunities to submit additional information.…

Objective: Familial hypercholesterolaemia (FH), an autosomal dominant disorder causing elevated low-density lipoprotein (LDL) cholesterol from birth resulting in premature cardiovascular disease, is only diagnosed in 10% of affected patients. This study involved partnering with patients with FH and with primary care providers (PCPs) to understand…

School psychologists are asked to provide a number of different services in schools, including evaluating and providing recommendations to educators and parents on children and adolescents with rare genetic conditions. One genetic disorder with physical, cognitive, and behavioral features is Prader-Willi syndrome (PWS). PWS is a unique genetic…

Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test's perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents…

Background: On 14 May 2013, Angelina Jolie (AJ), revealed herself to be the carrier of a BReast CAncer 1 (BRCA1) gene mutation and announced her decision to undergo a prophylactic mastectomy, followed by a laparoscopic bilateral salpingo-oophorectomy. This review explores the impact of the "Angelina Jolie Effect" in order to reveal…

Objectives: Children and adolescents with chronic physical health conditions are also at elevated risk of poor mental health; the mechanisms to account for this relationship remain unclear. In this narrative review, we used the socio-ecological model to examine research on experiences of school for children with chronic health conditions and how…