ABSTRACT
Individuals with a germline CDKN2A pathogenic variant (PV) have a highly increased life time risk of melanoma and pancreatic cancer. This cross-sectional study assessed the attitudes among toward genetic testing, family planning, and preimplantation genetic testing (PGT) in confirmed CDKN2A PV carriers and individuals with a 50% risk of the PV (at-risk carriers) using of a one-time questionnaire.A total of 537 individuals were screened for eligibility, of whom 208 of 366 (57%) confirmed carriers (56% female, median age 54 years [IQR 46-63]) and 39 of 171 (23%) at-risk carriers (59% female, median age of 26 years [IQR 22-32]) participated in the study. Primary motivations for genetic testing were to gain control over their personal and children's cancer risk, as well as increasing cancer surveillance practices. In contrast, concerns about obtaining a mortgage and life insurance were frequently cited as reasons for postponing genetic testing. Family planning decisions remained largely unaffected in both confirmed and at-risk carriers; however, the majority of confirmed carriers were still unaware of their familial or personal cancer risk when starting a family. More than 60% of the participants were unfamiliar with PGT and only a minority (19% of confirmed carriers and 10% of at-risk carriers) would be open to considering PGT as a reproductive option. This study found different attitudes toward genetic testing, family planning, and PGT among individuals affected by the CDKN2A PV. Understanding these different attitudes can help clinicians to address the complexities surrounding these issues, especially for younger individuals facing difficult decisions about the timing of genetic testing, family planning, and the potential use of assisted reproductive options.
Subject(s)
Cyclin-Dependent Kinase Inhibitor p16 , Family Planning Services , Genetic Predisposition to Disease , Genetic Testing , Germ-Line Mutation , Preimplantation Diagnosis , Humans , Female , Middle Aged , Adult , Male , Cross-Sectional Studies , Preimplantation Diagnosis/psychology , Genetic Predisposition to Disease/psychology , Cyclin-Dependent Kinase Inhibitor p16/genetics , Young Adult , Melanoma/genetics , Melanoma/psychology , Health Knowledge, Attitudes, Practice , Surveys and Questionnaires , Pancreatic Neoplasms/genetics , Pancreatic Neoplasms/psychology , Cyclin-Dependent Kinase Inhibitor p18/geneticsABSTRACT
Childhood disintegrative disorder (CDD), early onset schizophrenia (EOS), and late onset autism (LOA) often follow a similar course: initially, development is normal, then there is a sudden neuropsychiatric deterioration of social interaction and communication skills, which is combined with a decline in intelligence and reduction in daily activities. A 9-year-old boy was admitted to the paediatric ward with acute onset of secondary epileptic seizures. It was not long until the boy's symptoms resembled that of patients with cdd, eos and loa. Intensive tests led to the diagnosis of anti-NMDA-receptor encephalitis. Anti-NMDA-receptor encephalitis should be regarded as a possible organic cause underlying the syndromal presentation of CDD, EOS and LOA.
Subject(s)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis/diagnosis , Autistic Disorder/diagnosis , Child Development Disorders, Pervasive/classification , Child Development Disorders, Pervasive/diagnosis , Schizophrenia, Childhood/diagnosis , Age of Onset , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/classification , Autistic Disorder/classification , Child , Diagnosis, Differential , Humans , Male , Schizophrenia, Childhood/classificationABSTRACT
There was a dearth in awareness and knowledge regarding pediatric delirium (PD) at the pediatric intensive care unit (PICU). The aim of this study is to highlight the most recent and up-to-date findings of current literature -by means of a systematic review (SR) method-, and to present the key issues and research questions. A SR of the literature published between 24 March 2009 and 10 March 2011. Eight new articles were identified which included (literature) reviews, journal commentaries, and observational studies. There still is a dearth of literature on PD, with also a variable level of evidence (1b - 5), especially in relation to critical illness. To be able to further clarify PD in the PICU, additional research questions are provided for future research.
