Table 4.

Arylsulfatase A Deficiency: Supportive Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability
Neuromuscular manifestations
  • Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & falls & maintain neuromuscular function & mobility as long as possible
  • Aggressive PT is recommended.
  • Muscle relaxants for contractures
  • Safety measures for gait or movement limitations
Consider need for positioning & mobility devices, disability parking placard.
Feeding/Nutrition/
Gastrointestinal
  • Feeding therapy, swallowing aids, suction equipment, & other standard treatments for drooling & swallowing difficulty
  • Gastrostomy tube placement may be required for persistent feeding issues.
  • Standard treatments for gastroesophageal reflux & constipation
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Eyes No specific treatment
Central visual impairment No specific treatmentEarly intervention program to stimulate visual development
Hearing No specific treatmentCommunity hearing services through early intervention or school district
Anesthesia / Surgical complications

Anesthesia (if required) should be administered by experienced anesthesiologist.

Exacerbation of symptoms has been noted following anesthesia, as affected persons may have altered responses to sedatives & anesthetics. 2
Bowel dysfunction Treatments for constipation incl stool softeners, prokinetics, osmotic agents, or laxatives as needed
Respiratory Standard treatments for respiratory failure & respiratory infections
Family/Community
  • Education re likely progression of disorder to facilitate decisions re future care needs
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; MLD = metachromatic leukodystrophy; OT = occupational therapy; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

2.

From: Arylsulfatase A Deficiency

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