Презентация на тему "TOPIC Human hereditary diseases. Chromosomal from www.myshared.ru
Introduction
Prader-Willi Syndrome (PWS) is a rare genetic disorder that affects about 1 in every 15,000 births. PWS is caused by a deletion or lack of expression of certain genes on chromosome 15. This can lead to various physical, cognitive, and behavioral issues. In this quizlet, we will explore the different aspects of PWS.
Physical Symptoms
One of the most prominent symptoms of PWS is hyperphagia, which is an insatiable appetite that can lead to obesity. Other physical symptoms include short stature, hypotonia (low muscle tone), and small hands and feet. Individuals with PWS may also have scoliosis, sleep apnea, and dental issues.
Cognitive Symptoms
Individuals with PWS may have intellectual disabilities ranging from mild to moderate. They may also struggle with executive functioning skills, such as planning and organizing. However, some individuals with PWS have average intelligence and can lead independent lives with proper support.
Behavioral Symptoms
Individuals with PWS may exhibit challenging behaviors, such as temper tantrums, stubbornness, and obsessive-compulsive behaviors. They may also have difficulty with social skills and may struggle with understanding social cues and norms. However, with proper interventions, these behaviors can be managed.
Diagnosis
PWS can be diagnosed through genetic testing, which looks for the deletion or lack of expression of genes on chromosome 15. Prenatal testing is also available for families with a history of PWS. Early diagnosis is critical for proper treatment and support.
Treatment
There is currently no cure for PWS, but early intervention and management can improve outcomes. Treatment may include growth hormone therapy to improve height, behavioral therapy to address challenging behaviors, and a strict, controlled diet to manage hyperphagia and obesity.
Support and Resources
Families of individuals with PWS may benefit from support groups and organizations, such as the Prader-Willi Syndrome Association. These organizations provide resources, education, and advocacy for individuals with PWS and their families.
Conclusion
Prader-Willi Syndrome is a complicated disorder that affects various aspects of an individual's life. However, with proper support and management, individuals with PWS can lead fulfilling lives. Early diagnosis and intervention are critical for improving outcomes.
Sources:
- Prader-Willi Syndrome Association - National Organization for Rare Disorders - Genetics Home Reference
SAB fait grandir l'activité d'édition d'une ESN CFNEWS from www.cfnews.net The Basics of SAB SAB stands for Service Account Business. It is a type of business model that involves providing services to clients through the use of a service account. This type of business model allows for greater flexibility and scalability, as it enables businesses to provide services to multiple clients simultaneously. The Benefits of SAB One of the key benefits of SAB is that it allows businesses to operate more efficiently. By using a service account, businesses can provide services to multiple clients at once, without needing to set up separate accounts for each client. This can save time, money, and resources, making it a popular choice for businesses of all sizes. Another benefit of SAB is that it is highly customizable. Businesses can tailor their services to meet the specific needs of each client, which can help to increase customer satisfaction and retention rates. This can ul...
Dental Clinic in Greece/Athens Orthodontics/Orthodontc treatment in from oradentalcare.gr Introduction Having a healthy set of teeth is essential for good oral health and overall well-being. However, some people may face dental issues such as misaligned teeth, which can lead to bite problems. One such issue is crossbite teeth. What Is Crossbite Teeth? Crossbite teeth refer to a dental condition where the upper and lower teeth do not align correctly when you bite down. It can be either anterior (front) or posterior (back) crossbite. Anterior crossbite occurs when the upper front teeth are behind the lower front teeth, while posterior crossbite happens when the upper teeth are inside the lower teeth when you bite down. Causes of Crossbite Teeth Several factors can lead to crossbite teeth, including genetics, thumb sucking habits, mouth breathing, and prolonged pacifier use. In some instances, crossbite can also result from a narrow upper jaw or a misaligned lower jaw. Signs and Sympt...
Pulpotomy Procedure for Pediatrics in Detail from www.slideshare.net Introduction Pulpotomy is a dental procedure that involves removing the infected or inflamed pulp tissue from a baby tooth or a primary tooth. It is a common procedure performed on children to save their teeth from further damage and to prevent tooth decay from spreading. In this article, we will discuss what pulpotomy is, how it is performed, and its benefits. What is Pulpotomy? A pulpotomy is a dental procedure that involves removing the inflamed or infected pulp tissue in the crown of the tooth. The pulp tissue is located in the center of the tooth and contains nerves and blood vessels that help it grow and develop. When the pulp tissue becomes infected or inflamed due to tooth decay or trauma, it can cause pain and discomfort. How is Pulpotomy Performed? The pulpotomy procedure is performed under local anesthesia to numb the area around the tooth. The dentist will then remove the decayed or damaged parts of...
Posting Komentar
0 Komentar