Table 7.

Recommended Surveillance for Individuals with GARS1-Associated Axonal Neuropathy: Infantile-Onset Spinal Muscular Atrophy

System/ConcernEvaluationFrequency
Growth Plot growth parameters on standard growth chart.At each visit or more often depending on severity of disease &/or need for additional intervention
Gastrointestinal/
Feeding 		Oral feeders: aspiration risk, nutritional status, time to complete a feed
Gastric tube: nutritional status; constipation
Respiratory Non-ventilator dependent: work on breathing, oxygenation, & ability to manage secretions.
Ventilator dependent: ventilation, oxygenation, & secretions
Musculoskeletal OT, PT assessment of gross motor skills, mobility, need for assistive devices, activities of daily living
Orthopedist eval for kyphoscoliosis, contractures, hip dislocation
Development Monitor developmental progress & educational needs.
Family support
& resources 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

OT = occupational therapist; PT = physical therapist

From: GARS1-Associated Axonal Neuropathy

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