st Century School Nursing Professional Objectives Based on the Framework for 21 st Century School Nursing Practice Care Coordination To recognize Marfan syndrome and related disorders as a chronic disease which must be managed through collaboration education empowerment and plan ID: 775220
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Slide1
Marfan Syndrome
For the 21
st
Century School Nursing
Professional
Slide2Objectives Based on the Framework for 21st Century School Nursing Practice
Care Coordination - To recognize Marfan syndrome and related disorders as a chronic disease which must be managed through collaboration, education, empowerment and planningLeadership - For school nurses to become change agents in the fight for reforms, advocacy and models of practiceCommunity Health – To increase access to care, provide health education and referrals and ensure risk reduction.
Slide3HISTORY OF MARFAN SYNDROME
1896 first described by Dr. Antoine Marfan 1956 Dr. Victor A. McKusickMid-1970’s Marfan syndrome defined by cardinal features in three body systems:Musculoskeletal SystemOcular SystemCardiovascular System1996 Meeting in Ghent, Belgium establishes “Ghent Criteria” for diagnosisNow New “user friendly” criteria under development
Slide4TODAY
Following current Standards of Care an individual with Marfan syndrome can have a realistic hope of a normal life span with…Early DiagnosisLifestyle modificationsMedical and surgical interventions
Slide5Some facts
There are estimated
200,000 affected individuals in the United States with
Marfan syndrome or related
disorder or 1 in 5,
000
Genetic disorder: Autosomal dominant connective tissue disorder
25% individuals affected by Marfan syndrome have a
spontaneous mutation
Mutation in the FBN1 gene which encodes the Fibrillin-1 protein
Current research has found that over-expression of growth factor TGF
β
as cause of Marfan features
Slide6MARFAN SYNDROME DEFINED
Multi-system disorderMusculoskeletal SystemCardiovascular SystemOcular SystemNeurological SystemPulmonary System
Slide7First Step is Identification
Slide8BODY SYSTEM INVOLVEMENT
Musculoskeletal “Typical” Physical PresentationDisproportionately tall, thin statureThin, narrow face with high-arched palate, downturned eyesPigeon or concave chest and/or asymmetrical chestMild to severe scoliosis
Slide9BODY SYSTEM INVOLVEMENT
Musculoskeletal “Typical” Physical PresentationThin, narrow, flat feet or high-arched feet with hammer toesJoint hyper-mobilityArachnodactylyDecreased ligament support and increased risk of large joint dislocationLow muscle and/or ligament tone and fatigue
Slide10BODY SYSTEM INVOLVEMENT
CardiovascularMitral valve prolapseArrhythmiaAortic root dilationUp to a 250 times greater chance of aortic dissection
Slide11BODY SYSTEM INVOLVEMENT
OtherNeurologicalDural ectasiaHeadachesPulmonaryIncreased risk for spontaneous pneumothoraxIncreased risk for non-smoking emphysema OcularMyopiaLens subluxationIncreased risk of retinal detachment
Slide12“CLASSIC” MARFAN SYNDROME
Slide13MARFAN HANDS
Slide14WHICH OF EACH PAIR HAS MARFAN SYNDROME?
Slide15“EXTREMELY TALL AND SKINNY?”
Slide16MORE IMAGES OF MARFAN SYNDROME
Slide17MORE IMAGES OF MARFAN SYNDROME
Slide18MORE IMAGES OF MARFAN SYNDROME
Slide19MARFAN SYNDROME OR LOEYS-DIETZ?
Slide20MARFAN SYNDROME CAN BE TRICKY!
Many of these characteristics alone are
common in the general population.
The absence of some characteristics
does not
rule out Marfan syndrome.
Several of these characteristics in combination may warrant a comprehensive evaluation
.
Many similarities with
Ehlos
Danos
,
Loeys
Dietz,
Beals
, FTAAD and others
Slide21DIAGNOSIS OF MARFAN SYNDROME
Comprehensive evaluation, often coordinated by a medical geneticistSlit lamp eye examEchocardiogramPhysical examinationFamily historyGenetic testing can be indicated in some cases; however, many people are diagnosed by clinical evluation alone.
Slide22DIAGNOSIS OF MARFAN SYNDROME
Genetic Testing Genetic testing is available for FBN1 mutationsStill not perfect – it is neither reliable nor specificUseful in reproductive counselingClinical evaluation is often enough to make a diagnosisGenetic testing specific for Loeys-Dietz Syndrome is available and reliable
Slide23Early Diagnosis Saves Lives!
Slide24What can School Nurses do?
Slide25Care Coordination Role
Recognition of
Marfan Syndrome as a chronic disease which needs to be managed on a daily basis
Recognize an emergency
Aortic Dissection – a tear between layers of the aorta.
Can be fatal if not treated immediately.
Signs and Symptoms
pain in center of chest, abdomen or back
Nausea
Shortness of breath
Fainting
Loss of pulse
Tickling, numbness, burning, prickling of the skin
paralysis
Slide26Care Coordination Role….
Recognize an emergency….Collapsed LungAir collects in the space between the lungs and chest and prevents the lung from inflating completingSymptoms Chest pain, sudden and sharpShortness of breathRapid heart rateRapid breathingCouchFatigueSkin may become bluish
Slide27Care Coordination Role…..
Recognize an emergency….Detached RetinaA separation of the light sensitive membrane in the back of the eye from its supporting layersSymptomsTranslucent specks of various sizes, shape and consistencyBright flashes of lightBlurred visionShadow of blindness in part of the vision field
Slide28Care Coordination Role
Collaboration and Education
With Teachers – advocate for the needs of the child
Accommodations are often needed to ensure that children have a successful school experience.
taking all medical complaints seriously
provide unlimited access to nurse’s office
adjustment of school schedule for rest times
limit movement between classes
additional time to get to classes
extra set of books for home use to avoid carrying
Slide29Collaboration and EducationPhysical Education Teachers and Coaches Support Sports Pre-Participation Physical Evaluations (PPE)Educate on signs and symptoms of an emergency situationEducate on physical limitations to exercise and help design a physical education program which is low-intensity, low impact and low riskEducate on medication and the risks they pose to exercise and physical contactDiscuss appropriate activities which are non-competitive and non-strenuous Ensure that student does not feel “ different” and is allowed to find a place for themselves to achieve.
Slide30Collaboration with ParentsIn the development of Individualized Education Plans (IEP) and 504 plans with administrators, parents, teachers and students to create plans which include goals for independence, self acceptance, adaptation and coping with limitations. In the development of Individualized Health Plans ( IHP) and Emergency Care Plans (ECP) which provide a thorough assessment of the student’s physical and mental health, list of medications, date and results of latest imaging, all surgeries to date. The ECP also provides information on family, doctors, hospitals and preferred ambulance service.
Slide31Care Coordination Role
Collect information on: Family history of Marfan syndromeFamily history of early cardiac deathHistory of spontaneous pneumothorax History of frequent joint dislocationHistory of herniasOphthalmalogic historySkeletal featuresList of all medications
Slide32Leadership Role
Advocate Ensure Sports Pre-Participation Physical Evaluations (PPE) become mandatory in all states for all students. Ensure all school nurses are aware of and have received education on Marfan syndrome or related disorders. Ensure all medical personnel in emergency rooms are aware of and have received education on Marfan syndrome or related disorders.Ensure all children are treated fairly and receive the accommodations needs to achieve to the best of their abilities
Slide33Community Health Role
If you suspect a child might have Marfan or a related order Convey need for evaluation to parentsProvide appropriate referralsPediatricianThe Marfan Foundation, marfan.orgFollow up
Slide34Community Health Role
Become a medical liaison to the school communityFacultyStudentsEducate unaffected students and parents Raise awareness to ensure early identification
Slide35CONCLUSION
Marfan syndrome is a genetic connective disorder that affects an estimated 200,000 in the United States.
25% are caused by a spontaneous mutation
.
Early diagnosis and intervention saves lives
.
Diagnosis and treatment are determined through comprehensive clinical evaluation. Genetic testing can be indicated in some cases.
Slide36CONCLUSION
.
It is strongly recommended that individuals with Marfan syndrome DO NOT participate in competitive sport
s
School nurses have a valuable role in helping identifying individuals at risk for Marfan syndrome
.
School nurses have an important role in supporting the student diagnosed with Marfan syndrome.
Slide37RESOURCES
More resources are available at marfan.org
Slide38