Table 3. [Recommended Evaluations Following Initial Diagnosis in Individuals with SLC39A14 Deficiency]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Neurologic exam for dystonia, parkinsonism, & spasticity Brain MRI Assessment of whole-blood manganese levels
Development	Developmental assessment	To incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Musculoskeletal	Orthopedics / physical medicine & rehab / PT & OT eval	To incl assessment of: Gross motor & fine motor skills Contractures, clubfoot, & kyphoscoliosis Mobility, ADL, & need for adaptive devices Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Gastrointestinal/ Feeding	Gastroenterology / nutrition / feeding team eval	To incl eval of aspiration risk & nutritional status Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk.
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of SLC39A14 deficiency to facilitate medical & personal decision making
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/Concern

Evaluation

Comment

Neurologic

Neurologic exam for dystonia, parkinsonism, & spasticity
Brain MRI
Assessment of whole-blood manganese levels

Development

Developmental assessment

To incl motor, adaptive, cognitive, & speech/language eval
Eval for early intervention / special education

Musculoskeletal

Orthopedics / physical medicine & rehab / PT & OT eval

To incl assessment of:

Gross motor & fine motor skills
Contractures, clubfoot, & kyphoscoliosis
Mobility, ADL, & need for adaptive devices
Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)

Gastrointestinal/
Feeding

Gastroenterology / nutrition / feeding team eval

To incl eval of aspiration risk & nutritional status
Consider eval for gastric tube placement in those w/dysphagia &/or aspiration risk.

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of SLC39A14 deficiency to facilitate medical & personal decision making

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: SLC39A14 Deficiency

GeneReviews^® [Internet].

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

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