The clinical and molecular characterizations of two patients with a 1.4 Mb overlapping deletion in the 6p25.1p24.3 region are reported. In addition to the mild intellectual disability, they shared feeding problems in infancy and several dysmorphic facial features including a prominent forehead, almond-shaped eyes, a short philtrum, and low-set ears with square helices. The overlapping deleted region harbors six genes (RREB1, NRN1, CAGE1, LY86, SSR1, and F13A1), of which NRN1 and RREB1 are considered as candidate genes for the intellectual disability and the overlapping dysmorphism, respectively.
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http://dx.doi.org/10.1097/MCD.0b013e32835b6e39 | DOI Listing |
Neuromolecular Med
January 2025
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, CA, USA.
Down syndrome (DS) or trisomy 21 (T21) is present in a significant number of children and adults around the world and is associated with cognitive and medical challenges. Through research, the T21 Research Society (T21RS), established in 2014, unites a worldwide community dedicated to understanding the impact of T21 on biological systems and improving the quality of life of people with DS across the lifespan. T21RS hosts an international conference every two years to support collaboration, dissemination, and information sharing for this goal.
View Article and Find Full Text PDFOphthalmol Ther
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.
Introduction: Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in patients with congenital aniridia within the Homburg Aniridia Registry.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Sport Injuries and Corrective Exercises, Faculty of Physical Education and Sport Sciences, Shahid Bahonar University of Kerman, Kerman, Iran.
Individuals with intellectual disabilities (ID) often exhibit lower levels of physical fitness compared to the general population, including reduced strength, endurance, flexibility, and coordination. Dynamic neuromuscular stabilization (DNS) training can potentially improve the performance of adults with ID caused by weak motor skills due to a lack of desirable nerve growth during childhood and before puberty. Also, DNS training proposed to improve physical fitness in this population, but the effectiveness and durability of DNS training on specific fitness components have not been well-established.
View Article and Find Full Text PDFJ Intellect Disabil
January 2025
Independent Consultant, UK and USA.
Person-centered planning has been shown to benefit people with disabilities and their quality of life. However, we have little knowledge of how person-centered planning can benefit staff and administration within a group home organization, as well as the extent to which it results in changes to organizational practices and procedures, as well as perceptions of people with disabilities. In this qualitative study, we explored the perspectives of organizational employees, an affiliating behavioral consultant, and residents with intellectual and developmental disabilities, taking into consideration key insights from person-centered planning consultant-coaches, to understand the effects of a person-centered planning initiative on the group home organization.
View Article and Find Full Text PDFJ Autism Dev Disord
January 2025
NevSom - Norwegian Centre of Expertise for Neurodevelopmental Disorders and Hypersomnias, Oslo University Hospital, Oslo, Norway.
The Aberrant Behavior Checklist (ABC) was originally developed to evaluate interventions, and is a well-established assessment tool for challenging behaviours in people with intellectual disabilities and autistic people. However, whether the ABC displays longitudinal measurement invariance (i.e.
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