JOURNAL OF EMERGING AND RARE DISEASES (ISSN:2517-7397)

Prader-Willi syndrome (PWS) is a complex genetic disorder that results from a deletion or defect in the 15^th chromosome. Due to this chromosomal abnormality, appetite, growth, metabolism, cognitive functioning and behavior are affected. If not treated with growth hormone, it is typically characterized by low muscle tone, short stature and incomplete sexual development. The major characteristic of this syndrome is the chronic feeling of insatiable hunger and a slow metabolism that can lead to excessive eating and life threatening obesity.

The current COVID-19 pandemic and any threat of illness is always a potential danger for individuals with Prader-Willi syndrome of all ages. The complexity of this syndrome make identification of any illness delayed. Therefore, the many symptoms of COVID-19, such as high fever, coughing, muscle aches, fatigue, and breathing difficulties may not always be present in an individual with PWS that is infected with COVID-19 or other serious illnesses. For example, persons with PWS have a temperature deregulation that may not result in fever during infection. Breathing difficulties often warrant urgent medical attention. Other medical concerns are often not uncovered when evaluating a person with PWS due to the high pain threshold that the individual often exhibits. Caregivers must be aware that subtle changes in behavior, sleeping patterns or an increase in anxiety can indicate an impending illness [1].

Prior to the outbreak of COVID-19, the Prader-Willi Syndrome Care Coordination Program at the Children’s Institute of Pittsburgh was supporting children and adults with this complex condition across the country. Now more than ever this program continues to be vital in the safety and support of caregivers and the individuals with PWS and their families. The program is comprised of consistent contact with a Care Coordinator that closely monitors overall health, diet, and behavior. This professional works with caregivers by using a virtual format. With many current stay at home mandates that have been enacted in each state across the country, caregivers need increased support to implement a daily routine, schedule, a PWS specific diet and strategies for decreasing and managing behaviors that are a manifestation of this complex syndrome. The virtual format allows professionals that specialize in this complex syndrome to provide support in an innovative way to caregivers and individuals with PWS at this unprecedented time [2,3].

The PWS Care Coordination Program at the Children’s Institute of Pittsburgh has been successful with managing this complex syndrome in a virtual format and the this program model has proven to decrease health care costs, emergency room visits, hospitalization and has also worked with individuals to lose or maintain weight. For more information about the Prader-Willi Syndrome Care Coordination Program, contact Amy McTighe, Ph.D Director of Care Coordination at the Children’s Institute of Pittsburgh at amt@the-institute.org

Dr. Amy McTighe is currently the Director of Care Coordination at the Children’s Institute of Pittsburgh. She obtained her Bachelor’s and Master’s degree in Education with a focus on elementary/ special education with a focus on reading and language arts. She obtained her PhD in special education focusing her research on students with intellectual disabilities and rare syndromes. In 2014, Dr. McTighe was a successful participant in the Institute of Special Education Advocacy at William & Mary Law School. Dr. McTighe is currently the chair of the Special Education Advisory Board for the Prader-Willi Syndrome Association- USA and a member of the Council for Exceptional Children, Kappa Delta Epsilon, and the National Association for Special Education Teachers. Dr. McTighe has presented on various topics related to Prader-Willi syndrome at the state, national, and international level.

1. Antonelli RC, McAllister JW, Popp J. Making care coordination a critical component ofthe pediatric health system: A multidisciplinary framework. The Commonwealth Fund.2009 May
2. Griggs JL, Sinnayah P, Mathai M. Prader–Willi syndrome: Fromgenetics to behaviors special focus on appetite treatment.Neurosci Biobehav Rev. 2015 Oct;59:155-172.
3. Hughes D, Lee PR. Reflections and responses: Six models forunderstanding how families experience the system of care forchildren with special health care needs (Report). Lucile PackardFoundation for Children’s Health. 2014 Nov.