Table 7. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Eye findings	Ophthalmologic exam	Evaluate for cherry-red spot of the macula, vision impairment, strabismus, & nystagmus.
Neurologic	Neurology eval	Neuroimaging to incl brain MRI Consider EEG if seizures a concern.
Musculoskeletal system	Physical medicine & rehab / PT & OT eval	To incl assessment of: Gross motor & fine motor skills Need for adaptive devices Need for PT (to prevent deformities)
Developmental delay/regression	Developmental history & assessment	Document past & current developmental milestone acquisition &/or loss.
Gastrointestinal/ Feeding	Gastroenterology / nutrition / feeding team eval	To incl swallow study for eval of aspiration risk & nutritional status Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk. Assess for constipation.
Respiratory	Evaluate aspiration risk.
Hepatosplenomegaly	Physical exam	Baseline
Cardiac involvement	Eval by pediatric cardiologist (incl EKG & echocardiogram)
Skeletal findings	Skeletal survey	To determine extent of skeletal involvement
Lateral cervical spine radiographs in flexion & extension	To assess for atlanto-axial instability
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of a GLB1-related disorder in order 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

Eye findings

Ophthalmologic exam

Evaluate for cherry-red spot of the macula, vision impairment, strabismus, & nystagmus.

Neurologic

Neurology eval

Neuroimaging to incl brain MRI
Consider EEG if seizures a concern.

Musculoskeletal
system

Physical medicine & rehab / PT & OT eval

To incl assessment of:

Gross motor & fine motor skills
Need for adaptive devices
Need for PT (to prevent deformities)

Developmental
delay/regression

Developmental history & assessment

Document past & current developmental milestone acquisition &/or loss.

Gastrointestinal/
Feeding

Gastroenterology / nutrition / feeding team eval

To incl swallow study for eval of aspiration risk & nutritional status
Consider eval for gastrostomy tube placement in those w/dysphagia &/or aspiration risk.
Assess for constipation.

Respiratory

Evaluate aspiration risk.

Hepatosplenomegaly

Physical exam

Baseline

Cardiac involvement

Eval by pediatric cardiologist (incl EKG & echocardiogram)

Skeletal findings

Skeletal survey

To determine extent of skeletal involvement

Lateral cervical spine radiographs in flexion & extension

To assess for atlanto-axial instability

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of a GLB1-related disorder in order 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: GLB1-Related Disorders

GeneReviews^® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2024.

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