PRADER-WILLI SYNDROME

[Audio] PRADER-WILLI SYNDROME Sara Divil Fundamentals of Human Anatomy and Physiology– Dr. Susan Kennedy 8/26/2023 – Week 8.

[Audio] Agenda Background Symptoms Diagnosis Available Treatment Options Prognosis Affected Body Systems Additional Information References.

[Audio] I chose this topic as it is a syndrome that my sister, Christina, was born with 40 years ago (1982). Back then it was very rare and unknown and even today they are still learning more about the condition. My sister was not diagnosed until the age of four years. In that four years she was unable and unwilling to eat anything by mouth and had to be tube fed. When she was born, she had significant hypotonia, or in other words very weak muscle tone. My mom described her as being "floppy". For four years they were in and out of Children's Hospital of Pittsburgh (CHP) trying to determine what was wrong with Christina. Just after her 4th birthday, my mother and father were sitting at the kitchen table and my sister crawled to the refrigerator, opened it, and began eating anything she saw. They were so happy to see her finally eating that they let it go at first. When the doctors were advised of what happened, that's when they began to do more testing. There was a specialist at CHP that had heard of Prader-Willi Syndrome (PWS) but didn't know much about it. They did some blood tests as well as some genetic testing to confirm that this was in fact what she had. My parents had a lot to learn, and so did the doctors, as there were only a couple of other cases in the U.S. at the time. This syndrome is still a rare genetic disorder with a rate of 1/10k to 1/30k people living with PWS today in the U.S. alone. This syndrome causes obesity, intellectual disabilities, and shortness in height. PWS affects males and females equally and occurs in all ethnic groups as well as all geographic regions in the world. People with this syndrome want to constantly eat because they never feel full (hyperphagia), and they typically have trouble controlling their weight..

[Audio] Signs and symptoms of Prader-Willi syndrome can vary among individuals. Symptoms may slowly change over time from childhood to adulthood. Signs and symptoms that may be present from birth include: Poor muscle tone. A primary sign during infancy is poor muscle tone (hypotonia). Babies may rest with their elbows and knees loosely extended instead of fixed, and they may feel floppy or like rag dolls when they're held. Distinct facial features. Children may be born with almond-shaped eyes, a narrowing of the head at the temples, a turned-down mouth and a thin upper lip. Poor sucking reflex. Infants may have a poor sucking reflex due to decreased muscle tone. Poor sucking makes feeding difficult and can result in failure to thrive. Generally poor responsiveness. A baby may seem unusually tired, respond poorly to stimulation, have a hard time waking up or have a weak cry. Underdeveloped genitals. Males may have a small penis and scrotum. The testicles may be small or not descended from the abdomen into the scrotum (cryptorchidism). In females, the clitoris and labia may be small. In childhood through adulthood, the patient will have an excessive appetite and constant cravings for food, which results in a dangerous weight gain starting around the age of 2 in most. They also have poor growth and physical development, cognitive impairment, delayed motor development, speech problems, behavioral problems, and sleep disorders..

[Audio] Regularly scheduled well-baby visits can help identify early signs of poor growth and development, which can be signs of Prader-Willi syndrome or other disorders. Typically, doctors suspect Prader-Willi syndrome based on signs and symptoms. A definitive diagnosis can almost always be made through a blood test. This genetic testing can identify abnormalities in your child's chromosomes that indicate Prader-Willi syndrome. In most cases, PWS is caused by a random genetic error and is not inherited. Patients with PWS are missing the chromosome15 that should have been passed down by the father and instead they have two copies from the mother..

[Audio] There is no cure for Prader-Willi but many patients will benefit from a supervised diet. Some symptoms can be treated with hormone therapy. The treatment is directed toward the specific symptoms that are apparent in each individual that is affected. Early intervention and strict maintenance to treatment can greatly improve the overall health and quality of life for the patient affected as well as for their families. Some patients will need to see a hormone specialist as well. For my sister, my parents had to lock all the food away, so she was unable to get to any of it without it being property portioned by them. We had a lock that wrapped around the fridge as well as the freezer and locks on all of the cupboards. My sister did have weight issues growing up as my parents and the doctors need to learn more about the syndrome and was well over 100 lbs by age 6 at no fault of theirs. Realizing the issue, they took control and began a very strict diet and exercise program to get her back to a healthy weight..

[Audio] The syndrome itself is not life-threatening. It is the compulsive eating and weight gain that can cause young adults with the syndrome to develop serious obesity-related conditions. Increased appetite also means there is a higher risk of choking on food. If a person with PWS has a diet that is well controlled and they do not become overweight, adults can have a good quality of life and probably a normal life expectancy. Limiting their food intake can be extremely challenging as they become frustrated when they want the extra food. This ends up resulting in them stealing and hiding food. Many adults with Prader-Willi syndrome take part in activities such as voluntary or part-time work but it's unlikely they'll be able to live fully independent lives. Growing up, my sister had many fits, and still does occasionally, due to not getting the food she wanted. She would physically hurt someone if they tried to take the food from her. She is still on a very strict diet and exercise program as well. Today, she is living in a home with 24 hour assisted living care due to both of my parents being unable to care for her as they're getting older and unable to control her behaviors. She does often visit each of them and sometimes even spends the night at their homes and attends family functions and holiday's as normal also..

[Audio] The condition has numerous implications on metabolic, endocrine, and neurologic systems. It also presents with behavior and intellectual difficulties as well. Endocrine: Short stature, growth hormone deficiency, central adrenal insufficiency, hypothyroidism, hypogonadism, type II diabetes mellitus. Respiratory: Obstructive sleep apnea, hypoventilation, aspiration pneumonia. Cardiovascular: Hypertension, right-sided heart failure. Gastrointestinal: Gastroparesis, delayed gastric emptying, fatty liver, decreased salivary secretions, increased ghrelin production. Musculoskeletal: Osteoporosis, fractures, scoliosis, kyphosis, hip subluxation. Skin: Stasis ulcers and cellulitis. Behavioral: Tantrums, outbursts, self-injury, food stealing, hoarding, delayed cognitive development, learning disabilities. Neurologic: Hypotonia, temperature instability, seizures. Early diagnosis can address many problems during infancy, and this could increment the possibility of initiating treatment at a young age leading to better outcomes..

[Audio] Neonatal hypotonia is present in several neuropathies and myopathies, such as spinal myotonic dystrophy, which is differentiated by its poor respiratory effort early in life. There are some other syndromes called Prader Willi like Syndrome (PWLS) that share some physical features with Prader Willi syndrome but differs on a genetic basis. Some clinical manifestations of PWLS are hypotonia, short stature, obesity, developmental delays. Some patients that present with the craniopharyngioma at an early age and the consequences of its treatment at the level of the hypothalamus can manifest with many clinical features that overlap Prader Willi Syndrome. Pediatricians need to suspect this diagnosis when a neonate demonstrates hypotonia because it can lead to several complications, including difficulty feeding and failure to thrive. Following the diagnosis, it is crucial to incorporate an interprofessional team such as geneticist, endocrinologist, developmental specialist, a nutritionist that can provide an integrated approach, and they will monitor disease progression, complications..

Red drawing pins on a map. References. https://www.ncbi.nlm.nih.gov/booksLinks to an external site. https://medlineplus.gov/genetics/condition/prader-willi-syndrome/Links to an external site. https://www.mayoclinic.org/diseases-conditions/prader-willi-syndrome/symptoms-causes/syc-20355997Links to an external site. https://www.fpwr.org/what-is-prader-willi-syndrome https://www.pwsausa.org/ https://my.clevelandclinic.org/health/diseases/21016-prader-willi-syndrome.