PRADER-WILLI SYNDROME
Definition
A rare genetic disorder that occurs in approximately 1 in 15,000-25,000 live-births. It is not typically an inherited disorder, has no known cure, and is currently unknown to science what causes this disorder (nichd.nih.gov). Prader-Willi syndrome (PWS) is formed by a defective chromosome 15 from the mother’s egg or the fertilized egg receiving two copies of chromosome 15 from the father. People born with PWS typically have distinct physical features and mild to moderate atypical cognitive abilities. Physical features include: “reduced metabolism, high weight, narrow forehead, almond shaped eyes, unusually fair skin and light-colored hair, and underdeveloped genitals which typically lead to infertility” (ghr.nlm.nih.gov). Atypical cognitive abilities include: “temper outbursts, stubbornness, and compulsive behavior and difficulty with sleeping” (ghr.nlm.nih.gov). Other symptoms associated with PWS include an inability to suck, which can lead to children affected by it unable to feed themselves without assistance.
Instructional Strategies
There is no known cure for PWS. Children and Adults diagnosed with PWS need constant observation to prevent them from overeating as they typically exhibit low metabolic rates. While at birth, children with PWS are unable to feed themselves with out a one-way tube. People diagnosed with PWS tend to overeat regardless of how hungry or full they feel as they are age and are able to feed themselves. These two factors combined lead to the diagnosed becoming obese extremely easily and leads to diabetes and other symptoms associated with obesity.
People with PWS also typically have mild to moderate atypical cognitive disorders. While the cognitive delay is not typically as severe as other disorders that affect cognitive development. Therapy and additional help from qualified individuals is essential to give children and adults with PWS a successful education. It is important to recognize the unique likes and dislikes of the individual diagnosed with PWS. By being able to meet their needs, it is possible for people diagnosed with PWS to succeed.
Useful Websites
1 https://www.nichd.nih.gov/health/topics/prader-willi/Pages/default.aspx
A government website that has a detailed description of PWS, how it is diagnosed, symptoms, and treatment.
2 https://ghr.nlm.nih.gov/condition/prader-willi-syndrome#definition
Another government site that discusses Prader-Willi Syndrome and also links to research articles on it.
3 https://emedicine.medscape.com/article/947954-overview
An independent site with similar information to the government sites above. It is important to have sources from independent sources as well government sources to help show the validity of multiple repeat experiments.
Research
https://www.ncbi.nlm.nih.gov/pubmed/29066024
This abstract is from a study that hoped to show the relation of specific genes that appear to cause obesity due to Prader-Willi Syndrome. The study is among many that is trying determine what is causing obesity in children with PWS, as well as if these same genes also affect people of typical development as well.
"Prader Willi Syndrome (PWS) is a syndromic form of obesity caused by a chromosomal aberration on chromosome 15q11.2-q13. Patients with a comparable phenotype to PWS not carrying the 15q11.2-q13 defect are classified as Prader Willi like (PWL)."
"In this paper, we investigated the causal role of the melanin-concentrating hormone receptor 2 (MCHR2) gene in PWL patients, as most of the reported 6q16 deletions also encompass this gene and it is suggested to be active in the control of feeding behavior and energy metabolism."
" In literature, PWL patients do frequently harbor deletions at 6q16, which led to the identification of the single-minded 1 (SIM1) gene as a possible cause for the presence of obesity in these patients."
Sources
