Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with SLC39A8-CDG]. - GeneReviews®

System/Concern	Evaluation	Comment
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval Eval for early intervention / special education
Neurologic	Neurologic eval	To incl brain MRI Consider EEG if seizures are a concern.
Feeding/Nutrition	Gastroenterology / nutrition / feeding team eval Logotherapy eval to assess for swallowing abnormalities	To incl eval of aspiration risk & nutritional status Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Eyes	Ophthalmologic eval	To assess for reduced vision, abnormal ocular movement, best corrected visual acuity, refractive errors, & strabismus
Hearing	Audiologic eval	Assess for hearing loss.
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)
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of SLC39A8-CDG 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

Development

Developmental assessment

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

Neurologic

Neurologic eval

To incl brain MRI
Consider EEG if seizures are a concern.

Feeding/Nutrition

Gastroenterology / nutrition / feeding team eval
Logotherapy eval to assess for swallowing abnormalities

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

Eyes

Ophthalmologic eval

To assess for reduced vision, abnormal ocular movement, best corrected visual acuity, refractive errors, & strabismus

Hearing

Audiologic eval

Assess for hearing loss.

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)

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of SLC39A8-CDG 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: SLC39A8-CDG

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

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