Table 5. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic impairment	By pediatric neurologist	Assess for: Specific neurologic deficits (e.g., hemiparesis, visual field defect); Seizures if history is suggestive. In presence of above, perform brain MRI if not performed at time of initial eval.
Consultation w/X-ALD comprehensive center w/experience in transplantation or ex vivo gene therapy	Assess for eligibility for targeted therapy.
Behavioral issues	Behavioral assessment by developmental pediatrician, primary care physician	Assess for: Behaviors that may respond to medication; Aggressive or disinhibited behavior.
Developmental delay/regression	Developmental assessment	Assess: Educational needs; Need for OT service; Need for PT services incl durable medical equipment.
Speech impairment	By speech-language pathologist	Assess for aphasia & need for alternative means of communication.
Adrenocortical insufficiency	By pediatric endocrinologist	Screening tests per Pediatric Endocrine Society published guidance recommendations ¹
Genetic counseling	By genetics professionals ²	To inform affected persons & their families re nature, MOI, & implications of cCALD to facilitate medical & personal decision making To identify male relatives at risk for X-ALD (At-risk males may be identified by use of plasma or serum VLCFA levels or ABCD1 testing. Affected males should be evaluated as recommended in Table 4.)
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental/family support; Home nursing referral.

System/Concern

Evaluation

Comment

Neurologic impairment

By pediatric neurologist

Assess for:

Specific neurologic deficits (e.g., hemiparesis, visual field defect);
Seizures if history is suggestive.

In presence of above, perform brain MRI if not performed at time of initial eval.

Consultation w/X-ALD comprehensive center w/experience in transplantation or ex vivo gene therapy

Assess for eligibility for targeted therapy.

Behavioral issues

Behavioral assessment by developmental pediatrician, primary care physician

Assess for:

Behaviors that may respond to medication;
Aggressive or disinhibited behavior.

Developmental delay/regression

Developmental assessment

Assess:

Educational needs;
Need for OT service;
Need for PT services incl durable medical equipment.

Speech impairment

By speech-language pathologist

Assess for aphasia & need for alternative means of communication.

Adrenocortical insufficiency

By pediatric endocrinologist

Screening tests per Pediatric Endocrine Society published guidance recommendations ¹

Genetic counseling

By genetics professionals ²

To inform affected persons & their families re nature, MOI, & implications of cCALD to facilitate medical & personal decision making
To identify male relatives at risk for X-ALD (At-risk males may be identified by use of plasma or serum VLCFA levels or ABCD1 testing. Affected males should be evaluated as recommended in Table 4.)

Family support
& resources

Assess need for:

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

From: X-Linked Adrenoleukodystrophy

GeneReviews^® [Internet].

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

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