Table 3. [Arylsulfatase A Deficiency: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Neurologic eval Measurement of arylsulfatase A enzyme activity Measurement of urinary sulfatide excretion Brain MRI to assess myelin integrity EEG if concern for seizures Peripheral nervous system eval, such as nerve conduction studies, can be used to monitor disease progression or responses in therapeutic trials. BAERs can be used to assess progression in late-infantile MLD.	To assess disease progression & evaluate need for possible intervention
Referral for HSCT eval, either allogeneic HSCT (US) or autologous gene-modified HSCT (EU & UK), preferably at institution w/expertise in allogenic HSCT in persons w/metabolic disorders	For those identified presymptomatically or predicted to have late-onset MLD (For more specific criteria see Targeted Therapy.)
Development	Developmental assessment	To assess disease progression To incl motor, adaptive, cognitive, & speech-language eval Eval for early intervention / special education
Neurobehavioral/ Psychiatric	Neuropsychiatric eval	For persons age >12 mos: screening for concerns incl ADHD, school & work performance issues, & psychiatric manifestations
Hearing	Audiologic eval	Assess for hearing loss.
Vision	Visual assessment
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of MLD to facilitate medical & personal decision making
Family support & resources	By clinicians, wider care team, & family support organizations	Assessment of family & social structure to determine 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 eval
Measurement of arylsulfatase A enzyme activity
Measurement of urinary sulfatide excretion
Brain MRI to assess myelin integrity
EEG if concern for seizures
Peripheral nervous system eval, such as nerve conduction studies, can be used to monitor disease progression or responses in therapeutic trials.
BAERs can be used to assess progression in late-infantile MLD.

To assess disease progression & evaluate need for possible intervention

Referral for HSCT eval, either allogeneic HSCT (US) or autologous gene-modified HSCT (EU & UK), preferably at institution w/expertise in allogenic HSCT in persons w/metabolic disorders

For those identified presymptomatically or predicted to have late-onset MLD (For more specific criteria see Targeted Therapy.)

Development

Developmental assessment

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

Neurobehavioral/
Psychiatric

Neuropsychiatric eval

For persons age >12 mos: screening for concerns incl ADHD, school & work performance issues, & psychiatric manifestations

Hearing

Audiologic eval

Assess for hearing loss.

Vision

Visual assessment

Genetic counseling

By genetics professionals ¹

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

Family support
& resources

By clinicians, wider care team, & family support organizations

Assessment of family & social structure to determine need for:

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

From: Arylsulfatase A Deficiency

GeneReviews^® [Internet].

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

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