Presentation, diagnosis and management of SMA: Multidisciplinary - - PowerPoint PPT Presentation

Presentation, diagnosis and management of SMA: Multidisciplinary perspectives

SMA, spinal muscular atrophy.

Dr Oscar Henry Mayer

Paediatric Pulmonologist and Director of the Pulmonary Function Testing Laboratory, The Children's Hospital of Philadelphia, PA, USA

What are the key roles of the multidisciplinary teams that manage SMA and what challenges do they face?

SMA, spinal muscular atrophy.

Unapproved products or unapproved uses of approved products may be discussed by the faculty; these situations may reflect the approval status in one or more jurisdictions. The presenting faculty have been advised by touchIME to ensure that they disclose any such references made to unlabelled or unapproved use. No endorsement by touchIME of any unapproved products or unapproved uses is either made or implied by mention of these products or uses in touchIME activities. touchIME accepts no responsibility for errors or omissions.

Disclaimer

SMA multidisciplinary team1–3

SMA, spinal muscular atrophy.

• 1. Mercuri E, et al. Neuromuscul Disord. 2018;28:103–115. 2. Finkel RS, et al. Neuromuscul Disord. 2018;28:197–207. 3. SMA UK. https://smauk.org.uk/whos-who-of-professionals.

(Accessed December 2019).

Patient and family

Neurologist

• Neurological assessment

and co-ordination of care

Pharmacist

• Medication advice

Occupational therapist

• Adaptive support equipment

Pulmonologist

• Breathing problems and

respiratory assessment

Gastroenterologist

• Swallowing problems
• Gastrointestinal dysfunction

Endocrinologist

• Maintenance of bone health

Physical therapist

• Maintain flexibility and

muscle function

Paediatric nurse

• Care, advice, support

Genetic counsellor

• Advice and support

Clinical trials specialist

• Research

Psychologist

• Behaviour

Orthopaedic surgeon

• Skeletal muscle weakness

and spinal instability

Paediatrician

• General health and development

Social workers

• Access to equipment,

resources and counselling

Nutritionists

• Dietary advice and support

Respiratory therapist

• Use and management of

respiratory equipment

Nurse manager

• Clinic coordination

and access

Changing specialist roles as SMA develops

SMA, spinal muscular atrophy.

Disease progression as patient gets older Diagnosis

• f SMA

type 1

Social worker:

Family counselling

Neurologist:

Determine and co-ordinate pharmacotherapy

Pulmonologist and respiratory therapist:

Respiratory support

Nutritionists and gastroenterologist:

Swallowing problems and nutrition

Orthopaedic surgeon:

Contractures, chest wall and spine deformities

Endocrinologist:

Bone demineralization and weak bones

Access to newer disease-modifying pharmacotherapies

Challenges for SMA multidisciplinary teams

SMA, spinal muscular atrophy.

Identifying and recruiting practitioners with expertise in the management of patients with SMA Practitioners having sufficient time to devote to an SMA-focused MDT Access to medical resources to manage patients: airway clearance therapy, pulse oximetry, and later ventilatory support

SMA recommendations: key points1,2

Shift to a proactive approach Provision of equipment for acute care, including airway clearance and mechanical ventilation Focus on ensuring patients have adequate nutritional support New orthopaedic approaches to support the chest wall and spine, prevent progression of deformity, and maintain respiratory function

SMA, spinal muscular atrophy.

• 1. Mercuri E, et al. Neuromuscul Disord. 2018;28:103–115. 2. Finkel RS, et al. Neuromuscul Disord. 2018;28:197–207.

Acute management plan for SMA1,2

SMA, spinal muscular atrophy.

• 1. Chatwin M, et al. Resp Med. 2018;136:98–110. 2. Finkel RS, et al. Neuromuscul Disord. 2018;28:197–207.

Acute problems are produced by inadequate airway clearance resulting from respiratory muscle weakness

• Inability to cough prevents clearance of airway secretions at the start of a

respiratory illness Families need to recognize respiratory illness early, and initiate an acute care plan based around airways clearance

• Can minimize the need for, or duration of, hospitalization

A consistent management programme in the hospital critical and sub-acute settings improves patient flow through treatment and recovery