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This research describes the first documented case where a child has been genetically confirmed to have both Bardet-Biedl Syndrome (BBS) and autism spectrum disorder (ASD) at the same time. The patient is a 4-year-old boy who shows symptoms of both conditions - he has the physical features typical of...
**What they did:** A team of international medical experts and patient organizations worked together to create new, improved guidelines for diagnosing Bardet-Biedl Syndrome (BBS). They updated the checklist that doctors use to determine if someone has BBS, making it more accurate and easier to use....
This study looked at the daily life experiences of 30 adults with Bardet-Biedl Syndrome (BBS), focusing on their quality of life, thinking skills, and eating habits. The researchers used questionnaires to compare how people with BBS were doing compared to the general population. The study found tha...
No abstract available for this paper.
This study followed 48 patients with Bardet-Biedl Syndrome caused by changes in the BBS1 gene for an average of about 10 years to understand how their vision problems progress over time. The researchers found that patients' vision gradually worsened, with eyesight declining by a measurable amount ea...
This study looked at hormone-related health issues in 135 children and teenagers with Bardet-Biedl Syndrome (BBS) at a specialized clinic. The researchers wanted to better understand what endocrine (hormone) problems actually occur in young people with BBS, since most previous information came from...
This case report describes a patient with Bardet-Biedl Syndrome who was treated with a medication called setmelanotide. Setmelanotide is a drug that helps control extreme hunger (called hyperphagia) that often occurs in people with Bardet-Biedl Syndrome and can lead to severe weight gain. The medica...
This study looked at thinking and learning abilities in 96 people with Bardet-Biedl Syndrome (BBS) by reviewing their past test results. The researchers wanted to better understand how BBS affects intelligence and daily living skills. **What they found:** The average IQ score was about 74, with abo...
This study looked at a condition called hydrocolpos, where girls are born with a blockage in their vaginal area that prevents normal fluid drainage. The researchers examined 13 girls (ages 1 month to 14 years) who had this condition and developed a new way to classify how severe the blockage is usin...
This research describes a case of a baby diagnosed with Bardet-Biedl Syndrome (BBS) before birth. BBS is a rare inherited condition that affects multiple parts of the body, including the eyes, kidneys, hands and feet, brain development, and reproductive organs. During a routine pregnancy ultrasound...
This study looked at the genetic causes of Bardet-Biedl Syndrome (BBS) in 9 Iranian families by using advanced genetic testing called "exome sequencing" - a method that reads most of the DNA code to find changes that might cause disease. The researchers tested children with BBS and their parents to...
This study used a powerful computer program called AlphaFold3 to create detailed 3D models of the BBSome - a group of eight proteins that work together and are involved in Bardet-Biedl Syndrome (BBS). The BBSome helps transport important proteins in and out of cilia, which are tiny hair-like structu...