Transitional Care for Pediatric Patients with Neuromuscular Diseases: A Health Technology Assessment Jackie Tran, MD University of Medicine and Dentistry of New Jersey, USA HTAi 9th Annual Meeting, Bilbao Integrated Care for a Patient Centered System 25 June, 2012

1. Transitional Care for Pediatric
Patients with Neuromuscular Diseases:
A Health Technology Assessment
Jackie Tran, MD
University of Medicine and Dentistry of New Jersey, USA
HTAi 9th Annual Meeting, Bilbao
Integrated Care for a Patient Centered System
25 June, 2012

2. Outline
Background
Transitional Care Overview
Neuromuscular Diseases Overview
Objectives
Methods
Results
Barriers
Recommendations
Conclusions

3. Background
Transitional Care Overview

4. Unique Adult Needs
Physical maturation
Size Psychosocial maturation
Endocrine management Identity
Deformities Experimentation
Independence
Sexual maturation Family/Friends
Menstruation
Fertility Intellectual maturation
Pregnancy Education
Vocation

5. Reality: Unmet Needs
Increase hospitalization, particularly of ages 18-21
© Pediatrics. 2011 Jul;128(1):5-13. Epub 2011 Jun 27.Adults with chronic health conditions originating in childhood: inpatient experience in children's hospitals.

6. Reality: Unmet Needs
Non-adherence to medications over a lifetime in
renal transplant patients
Decrease clinic attendance and an average of 1.47
health provider changes in diabetes type 1 patients
Decrease mobility in spina bifida patients during
transitional years
Increase long-term morbidity and mortality in cystic
fibrosis patients

7. Background
Neuromuscular Diseases
Overview

8. Selected Neuromuscular Diseases
of Childhood
Congenital
myopathies Acquired
dystrophic (e.g., Duchenne)
myotonic Guillain-Barré syndrome
congenital
myasthenia gravis
spinal muscle atrophy polymyositis
congenital myasthenia toxic myopathy
hereditary motor sensory
neuopathy
Friedreich ataxia

9. Epidemiology
Worldwide prevalence of disabling, inherited
neuromuscular diseases: 1 in 3,500
Increased survival rate to adulthood
Some Survival Statistics in the Literature
60% of males born with Duchenne between 1983 – 1987 survived past age 24
More than 33% of Charcot-Marie-Tooth Type 2 patients live past the third
decade of life
A patient with Type 2 SMA have survival rate of 68.5% at age 25

10. Unique Characteristics
Low recognition
Apparent functional deficits
Infamous progressive/regressive courses
Media portrayal
Multi-organ systems involvement
Large team investment

11. Equally Poor Transitional Care
A glaring 60% of 850 people living with muscle
disease rate transition from child to adult
services as “poor” or “very poor”
Muscular Dystrophy Campaign 2008 survey

12. Objectives & Methods
Finding Transitional Solutions

13. Objectives
Identify systematic and unique barriers to a
successful transition of care for adolescents
with neuromuscular diseases (NMDs).
Recommend comprehensive strategies to
improve the experience for patients, family
members, and health providers alike.

14. Methods
Systematic literature review of publications
between January 2000 and December 2011
Informal survey of local clinicians’ opinions

15. Results
Only the beginning…

16. General Observations
Notable publication increase on transitional care
over the past 5 years
Emphasis on the following diagnoses:
diabetes, cancer, renal transplant, inflammatory bowel dz
cerebral palsy and spina bifida
Most prolific countries: USA, Canada and UK
Honorable mentions: Australia, France, Japan, Switzerland

17. All Transitional Care NMD-Relevant
Publications Publications
Number of
60+ 14
Publications
• generic: “chronic illnesses” & “special health care needs” &
“congenital disabilities” & “developmental disabilities”
Population • inter-mix with spina bifida &
description • multiple diagnoses-specific cerebral palsy & “chronic
publications neurological disorders”
• Duchenne dystrophy

18. All Transitional Care NMD-Relevant
Publications Publications
• highlight need for transitional care
• clinician & patient survey/commentaries
Publication • anecdote / case reports
Content • single-institution experience
• review of medical topics on
• general critiques of current
transitional ages
transition processes & models
• subjective reports of wellness & satisfaction
Outcome • individual programs: • health expenditure at
measures transitional age as a secondary
admissions & biomarkers
(retrospective & limited to 1 year after transition) outcome

19. Models of Transitional Care
Diagnosis-focused (most common)
pediatric and adult provider collaboration
Medical home-based (least common)
primary care practitioner as coordinator
Adolescent-focused
physical, physiological, social issues focused
Transition-based
outreach representatives from one facility

20. General Barriers
Afterthought process
Provider availability (absolute & time)
Coordinator responsibility
Decision-making capacity
Advisors resourcefulness
Insurance coverage
Transportation / Architectural
Medical records
Ventilator, dialysis

21. Emotional Barriers
Patient & Family
neglect
abandonment
Fear
Anxiety
Distrust
Uncertainty Peds team
Adult team
burden attachment
unfamiliarity over-confidence

22. Unique Barriers & Opportunities
Barriers
Even more limited provider availability
Institutionalized patients
Aging care providers
Uncertain future
Opportunities
Assistive technology
Malpractice insurance
Insurance / resources for the very ill
Association with spina bifida and/or cerebral palsy

23. Recommendations
Early notification
Individualized plan
flexible but definitive date of transition
assess cognitive/emotional and functional status
gradual promote of independence
Comprehensive approach
patient’s and family members’ input
interdisciplinary team

24. Recommendations
Coordinator designation
Patient education
self care and disease process
healthcare system navigation
Long-term planning
vocation and education
living situation
Resources availability

25. Advanced Topics
Program sustainability
Provider training
Transition to palliative care
Socioeconomic status effects

26. Conclusions
All children with neuromuscular diseases need
a transition plan before entering adulthood
Successful transition requires coordination of
services across all providers
Especially for individuals affected by NMDs,
the transition plan should incorporate
patient’s and family’s long-term goals

27. Primary References
Abbott, D. Transition to adulthood for young men with Duchenne Muscular Dystrophy. International Journal of Integrated Care, 31
December 2009 - ISSN 1568-415
Centers for Disease Control and Prevention (CDC). Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24
years - four states, 2007. MMWR Morb Mortal Wkly Rep. 2009 Oct 16;58(40):1119-22.
Strehle EM. Long-term management of children with neuromuscular disorders. J Pediatr (Rio J). 2009 Sep-Oct;85(5):379-84.
Tiffreau V, et al. Ann Readapt Med Phys. 2006 Dec;49(9):652-8. Epub 2006 Jun 27. [Transition in health care from youth to
adulthood for disabled people].
Ouyang L, et al. Health care utilization and expenditures for childrenand young adults with muscular dystrophy in a privately insured
population. J Child Neurol. 2008 Aug;23(8):883-8. Epub 2008 Apr 10.
Manzur AY, Muntoni F. Diagnosis and new treatments in musculardystrophies. J Neurol Neurosurg Psychiatry. 2009 Jul;80(7):706-14.
Hill ME, Phillips MF. Service provision for adults with long-term disability: a review of services for adults with chronic
neuromuscular conditions in the United Kingdom. Neuromuscul Disord. 2006 Feb;16(2):107-12. Epub 2006 Jan 19.
Nomura Y. [Care continuity for patients with myasthenia gravis during transition from childhood to adulthood]. Nihon Rinsho. 2010
Jan;68(1):39-44.
Yoshioka M, et al. [Care continuity for patients with myopathy during transition of childhood to adulthood]. Nihon Rinsho. 2010
Jan;68(1):53-6.
Minicozzi A. Transition to adult care: another view. Pediatr Nurs. 2000 Jul-Aug;26(4):411-2.
Katz JD, et al. Parents' perception of self-advocacy of children with myositis: an anonymous online survey. Pediatr Rheumatol Online
J. 2011 Jun 7;9(1):10.
Goodman DM, et al. Adults with chronic health conditions originating in childhood: inpatient experience in children's hospitals.
Pediatrics. 2011 Jul;128(1):5-13. Epub 2011 Jun 27.
Rearick E. Enhancing success in transition service coordinators: use of transformational leadership. Prof Case Manag. 2007 Sep-
Oct;12(5):283-7.
Parker AE, et al. Analysis of an adult Duchenne muscular dystrophy population. QJM. 2005 Oct;98(10):729-36. Epub 2005 Aug 31.