Paediatrics CE/CME ACCREDITED Watch Time: 36 mins

touchMDT Maintaining quality of life in patients with later-onset SMA: The patient journey from diagnosis to management

Watch members of the MDT and two patients discuss the diagnosis and management of SMA in adolescents and adults.

Overview & Learning Objectives

Patient with later-onset SMA

SMA Specialist and Neurologist

An SMA specialist and a neurologist specializing in adult neuromuscular disorders discuss the clinical presentation of later-onset SMA and the processes for differential diagnosis.

Expert Spotlight
Dr Claudia Chiriboga
Columbia University Medical Center, New York, NY, USA
Dr James Wymer
University of Florida, Gainesville, FL, USA

Dr Claudia Chiriboga and Dr James Wymer discuss the clinical presentation of later-onset SMA in adolescents and adults, the considerations for differential diagnosis and the importance of promptly referring patients with suspected SMA for genetic testing.

Listen on the Go

Learn more Back to MDT Hub Time: 11:54
 
SMA Specialist and Young Adult with SMA

Watch an SMA specialist and a young adult with SMA type 3 discuss the transition of adolescent patients into adult healthcare services.

Expert Spotlight
Dr Claudia Chiriboga
Columbia University Medical Center, New York, NY, USA
Mr Hugo Trevino
Chicago, IL, USA

Dr Claudia Chiriboga and Mr Hugo Trevino discuss the challenges faced by patients with SMA who transition from paediatric to adult healthcare services and review how the process can be facilitated.

Listen on the Go

Learn more Back to MDT Hub Time: 12:32
 
SMA Specialist, Young Adult with SMA, Adult with SMA and Physical Therapist

Watch an SMA specialist, two patients and a physical therapist discuss the role of the multidisciplinary team in maintaining quality of life in patients with SMA.

Expert Spotlight
Dr Claudia Chiriboga
Columbia University Medical Center, New York, NY, USA
Mr Hugo Trevino
Chicago, IL, USA
Mr Jim Willison
Sheffield, OH, USA
Dr Lisa Fukuzato
University of Southern California, Los Angeles, CA, USA

Physicians and patients discuss the role of the multidisciplinary team in the maintenance of health and quality of life in adult patients with SMA.

Listen on the Go

Learn more Back to MDT Hub Time: 11:56
 
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Learning Objectives & Overview
Overview

In the three videos in this activity, a specialist in spinal muscular atrophy (SMA), a neurologist, a physical therapist and two adult patients with SMA discuss how a multidisciplinary approach can tackle the key challenges in maintaining quality of life for patients with later-onset SMA, including clinical presentation, diagnosis and the transition from paediatric to adult healthcare.

This activity is jointly provided by USF Health and touchIME. read more

Target Audience

This activity has been designed to meet the educational needs of general and community neurologists, paediatric neurologists, paediatricians, primary care providers (PCP), neurology nurses and pulmonologists, who may be involved in the diagnosis and/or management of patients with SMA and practice in the USA.

Disclosures

USF Health adheres to the Standards for Integrity and Independence in Accredited Continuing Education. All individuals in a position to influence content have disclosed to USF Health any financial relationship with an ineligible organization. USF Health has reviewed and mitigated all relevant financial relationships related to the content of the activity.  The relevant relationships are listed below. All individuals not listed have no relevant financial relationships.

Faculty

Dr Claudia Chiriboga discloses: Advisory board or panel fees from Avexis/Novartis, Genentech, PTC Therapeutics and Roche. Grants/research support from Avexis/Novartis, Biogen and Roche. Speaker’s bureau fees from Biogen and Genentech.

Dr James Wymer discloses: Advisory board or panel fees from Biogen and Genentech. Grants/research support from Amylyx and Annexon.

Dr Lisa Fukuzato has no interests/relationships or affiliations to disclose in relation to this activity.

Mr Hugo Trevino discloses: Consultancy fees from PTC Therapeutics.

Mr Jim Willison has no interests/relationships or affiliations to disclose in relation to this activity.

Content reviewer

Angela M. Hill, PharmD has no financial interests/relationships or affiliations in relation to this activity.

Touch Medical Director

Adriano Boasso and Hannah Fisher have no financial interests/relationships or affiliations in relation to this activity.

USF Health Office of Continuing Professional Development and touchIME staff have no financial interests/relationships or affiliations in relation to this activity.

Requirements for Successful Completion

In order to receive credit for this activity, participants must review the content and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

If you have questions regarding credit please contact cpdsupport@usf.edu.

Accreditations

Physicians

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through a joint providership of USF Health and touchIME. USF Health is accredited by the ACCME to provide continuing medical education for physicians.

USF Health designates this enduring material for a maximum of 0.75 AMA PRA Category 1 CreditTM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The European Union of Medical Specialists (UEMS) – European Accreditation Council for Continuing Medical Education (EACCME) has an agreement of mutual recognition of continuing medical education (CME) credit with the American Medical Association (AMA). European physicians interested in converting AMA PRA Category 1 CreditTM into European CME credit (ECMEC) should contact the UEMS (www.uems.eu).

Advanced Practice Providers

Physician Assistants may claim a maximum of 0.75 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 CreditTM from organizations accredited by ACCME or a recognized state medical society.

The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 CreditTM by ACCME-accredited providers. APRNs who participate will receive a certificate of completion commensurate with the extent of their participation.

Date of original release: 21 March 2022. Date credits expire: 21 March 2023.

If you have any questions regarding credit please contact cpdsupport@usf.edu.

Learning Objectives

After watching this activity, participants should be better able to:

  • Recall the typical clinical presentation of patients with milder SMA phenotypes and the processes for differential diagnosis
  • Discuss patient needs as they transition from paediatric to adult healthcare services
  • Formulate processes for the provision of multidisciplinary care to adolescent and adult patients with SMA
Faculty & Disclosures
Dr Claudia Chiriboga

Columbia University Medical Center, New York, NY, USA

Dr Claudia Chiriboga is Professor of Neurology and Pediatrics at Columbia University Medical Center, Clinical Care Director of the Pediatric Muscular Dystrophy Association and member of the Spinal Muscular Atrophy (SMA) Clinical Research Center at Columbia University, New York, NY, USA. read more

Dr Chiriboga’s clinical research experience has included National Institutes of Health (NIH)-funded cohort studies of neurodevelopmental disorders, as well as clinical trials. Of late, her work has focused on SMA translational research; she has participated in numerous clinical trials in this field, including the ground-breaking, first-in-human SMA antisense oligonucleotide studies. 

Dr Chiriboga has served on NIH grant review committees and has been an associate editor and journal reviewer for paediatric and neuromuscular medicine journals.

Dr Claudia Chiriboga discloses: Advisory board or panel fees from Avexis/Novartis, Genentech, PTC Therapeutics and Roche. Grants/research support from Avexis/Novartis, Biogen and Roche. Speaker’s bureau fees from Biogen and Genentech.

Dr James Wymer

University of Florida, Gainesville, FL, USA

Dr James Wymer is a neurologist and professor practising at the University of Florida in Gainesville, FL, USA. read more

Dr Wymer specializes in the diagnosis and management of neuromuscular diseases including amyotrophic lateral sclerosis (ALS), SMA, muscular diseases and peripheral neuropathies. He has extensive clinical research experience and has been the principal investigator in numerous clinical trials including studies of ALS, primary lateral sclerosis, diabetic neuropathy, multiple sclerosis, migraine headaches and epilepsy. He is the director of the motor neuron disease clinic treating patients with SMA. 

Dr Wymer is a fellow of the American Academy of Neurology and the American Association of Neuromuscular and Electrodiagnostic Medicine. He is also a member of several national consortia in neuromuscular diseases.

Dr James Wymer discloses: Advisory board or panel fees from Biogen and Genentech. Grants/research support from Amylyx and Annexon.

Dr Lisa Fukuzato

University of Southern California, Los Angeles, CA, USA

Dr Lisa Fukuzato is a Doctor of Physical Therapy and a board certified neurologic clinical specialist at the University of Southern California (USC). read more

Following the completion of her doctorate by coursework at USC, Dr Fukuzato completed a neurology residency. She has clinical experience in all settings including acute care and rehabilitation in inpatient and outpatient settings. 

Dr Fukuzato specializes in custom wheelchair seating and durable medical equipment evaluations.

 Dr Lisa Fukuzato has no interests/relationships or affiliations to disclose in relation to this activity.

Mr Hugo Trevino

Chicago, IL, USA

Mr Hugo Trevino is a first-generation Mexican American with SMA type 3 and a disability services specialist in the Disability Resource Center at the University of Chicago in Illinois. read more

Mr Trevino has a BA from the University of Illinois at Champaign Urbana (UIUC) and a Master of Education in International Higher Education, from Loyola University, Chicago.

Mr Trevino is passionate about helping people with disabilities with a focus on education, healthcare and self-advocacy. He works at the University of Illinois in Chicago, where he ensures students with disabilities have equal access to higher education. Mr Trevino strongly believes that if people with disabilities have equal access to education and healthcare, it will encourage self-advocacy and ultimately improve the landscape for disability rights.

Mr Hugo Trevino discloses: Consultancy fees from PTC Therapeutics.

Mr Jim Willison

Sheffield, OH, USA

Mr Jim Willison is an adult living with SMA type 3 and has participated in a number of clinical trials for SMA through the Ohio State University Medical Center. He has a degree in electrical engineering and currently does voice-over work for training and explainer videos and commercials.

Mr Jim Willison has no interests/relationships or affiliations to disclose in relation to this activity.

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Question 1/5
Which of the following statements best describes one of the key differences between ALS and SMA type 4?

ALS, amyotrophic lateral sclerosis; SMA, spinal muscular atrophy.
Correct

ALS typically has an adult-onset and is very aggressive, with most patients dying 2–3 years after diagnosis.1 It causes muscular weakness and difficulties in mobility, communication, feeding and breathing.2 

Disease onset for patients with SMA type 4 is around 30 years of age or later.3 The disease progresses more slowly than ALS, with pronounced declines during specific decades of life.4 SMA type 4 typically lacks the bulbar and visceral complications common to the paediatric SMA phenotypes5 and evident in ALS.2

ALS, amyotrophic lateral sclerosis; SMA, spinal muscular atrophy.

References

  1. Comely LH, et al. J Comp Neurol. 2016;524:1424–42.
  2. Tena A, et al. JMIR Med Inform. 2021;9:e2133.
  3. Keinath MC, et al. Appl Clin Genet. 2021;14:11–25.
  4. Wadman RI, et al. Eur J Neurol. 2018;25;512–8.
  5. Salort-Campana E, Quijano-Roy S. Arch Pediatr. 2020;27(7S):7S23–8.
Question 2/5
Which neuromuscular disease should be considered for differential diagnosis against SMA for an adolescent presenting with proximal weakness, clumsiness, difficulty climbing stairs and elevated CK?

CK, creatine kinase; SMA, spinal muscular atrophy.
Correct

The signs and symptoms of hereditary myopathies, such as muscular dystrophies (dystrophinopathies, limb-girdle muscular dystrophies), can overlap with those seen in patients with SMA type 3 and they are often associated with higher CK levels and muscle hypertrophy.

CK, creatine kinase; SMA, spinal muscular atrophy.

Reference

Salort-Campana E, Quijano-Roy S. Arch Pediatr. 2020;27(7S):7S23–8.

Question 3/5
How can access to a multidisciplinary clinic help patients with SMA who have transitioned from paediatric to adult healthcare?

SMA, spinal muscular atrophy.
Correct

The impact of fragmented care can be exacerbated for those transitioning from paediatric to adult care, due to the high level of coordinated support they often received in paediatric settings. What often results is that adults living with SMA engage solely with their primary care physician or a specialist that can address an immediate concern.

Leading healthcare systems around the world have established multidisciplinary clinics to ensure access to coordinated treatment and care for adults living with SMA. A multidisciplinary and coordinated approach to care (e.g. through single-site clinics and dedicated care managers as points of contact), can foster an individual’s willingness to sustain engagement.

SMA, spinal muscular atrophy.

Reference

Walter MC, et al. J Neuromuscul Dis. 2021;8:543–51.

Question 4/5
Your patient is a young adult with SMA type 3 who is 17 years old. She will be transitioning to adult care in the next few months. During the regular follow-up visits with her and her parents, what should you do to facilitate this process?

SMA, spinal muscular atrophy.
Correct

Many young adults with neuromuscular diseases like SMA have been protected or treated as children and are not developmentally prepared to be independent adults. Preparedness for transitioning includes encouraging self-management skills and supporting children to learn to speak for themselves whenever possible, so that developmentally appropriate transitioning to adult-oriented services can occur in a timely manner.

SMA, spinal muscular atrophy.

Reference

Okumura M, et al. J Pediatr Nurs. 2015;30:714–23.

Question 5/5
In addition to a neurologist, which of the following specialists should form part of the multidisciplinary care team for adult patients with later-onset SMA?

SMA, spinal muscular atrophy.
Correct

As with children with SMA, clinical management for adults with SMA also requires a multidisciplinary approach and should ideally be offered within specialized services which incorporate nutritional, respiratory, orthopaedic, and rehabilitation care.

SMA, spinal muscular atrophy.

Reference

Wan HWY, et al. Orphanet J Rare Dis. 2020;15:70.

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