Table 3. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System	Evaluation	Comment
Neurologic	Assessment of muscle tone & strength (if possible)	To guide supportive management ¹
Nutrition/ Feeding	Gastroenterology, nutrition, feeding team eval ²	To incl eval of aspiration risk, fatigue during feeding, GERD, & nutritional status Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk &/or poor oral intake.
Respiratory/ Cardiovascular	Assessment of respiratory rate, work of breathing, presence of paradoxic breathing, chest wall shape, & skin perfusion
Baseline pulmonary studies	To determine extent of restrictive airway disease & cough efficiency
Baseline polysomnogram ²	To assess for sleep-disordered breathing, nocturnal hypoventilation, & oxygen desaturation
Skeletal	Clinical eval for joint contractures & scoliosis	Consider referral to: Orthopedist; PT for flexion contractures.
Miscellaneous/ Other	Consultation w/clinical geneticist &/or genetic counselor	To incl genetic counseling
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System

Evaluation

Comment

Neurologic

Assessment of muscle tone & strength (if possible)

To guide supportive management ¹

Nutrition/
Feeding

Gastroenterology, nutrition, feeding team eval ²

To incl eval of aspiration risk, fatigue during feeding, GERD, & nutritional status
Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk &/or poor oral intake.

Respiratory/
Cardiovascular

Assessment of respiratory rate, work of breathing, presence of paradoxic breathing, chest wall shape, & skin perfusion

Baseline pulmonary studies

To determine extent of restrictive airway disease & cough efficiency

Baseline polysomnogram ²

To assess for sleep-disordered breathing, nocturnal hypoventilation, & oxygen desaturation

Skeletal

Clinical eval for joint contractures & scoliosis

Consider referral to:

Orthopedist;
PT for flexion contractures.

Miscellaneous/
Other

Consultation w/clinical geneticist &/or genetic counselor

To incl genetic counseling

Family support & resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

From: Spinal Muscular Atrophy, X-Linked Infantile

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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