Background: There is limited evidence exploring sibling's perspective in Prader-Willi syndrome research. Objectives: To investigate the experiences and support needs of the siblings of individuals with Prader-Willi syndrome. Methods: This two-stage qualitative study involved siblings aged 11 years onwards (n = 11) and parents (n = 8). Stage 1…

Background: The 22q11.2 deletion syndrome (22q11DS) is characterised by a changing pattern of overlapping intellectual, physical, and mental disabilities along the course of one's life. However, the impact of overlapping disorders (multimorbidity) on educational challenges remains unclear. Method: A survey was conducted with 88 caregivers of…

Background: Many individuals with intellectual disabilities and their caregivers struggle to provide accurate and complete information to healthcare providers. Method: The present authors provided personal medical information cards (PMICs) containing contact and medical information to 52 Canadian adults with 22q11.2 deletion syndrome, a genetic…

Background: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and autism spectrum disorder (ASD). In Colombia, there are no screening or testing protocols established for the diagnosis of FXS. In this study, we aimed to describe the diagnostic trends of FXS in Colombia. Methods: Data were included on 1322…

Background: The objective was to describe the main causes of hospitalization in people with Angelman syndrome (AS). Method: Population-based cross-sectional study in the Community of Madrid (CM), Spain. The information source for AS cases was the information system for rare diseases in the CM. Variables related to hospitalization, for the period…

Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…

Background: This investigation details procedures used to teach enhanced natural gestures (ENGs) and illustrates its use with three students with Angelman syndrome (AS). Materials and Methods: Themes were extracted, using a process of content analysis, to organize individuals' feedback pertaining to previous versions of the instructional…

Introduction: The aim of the present study was to determine whether individuals with Prader--Willi syndrome (PWS) have impaired global executive functioning and whether this deficit is linked with intellectual disability. Another objective focussed on the variability in performance of intellectual quotient (IQ) and executive functions (EF)…