Table 5.

Treatment of Manifestations in Individuals with Squalene Synthase Deficiency

Manifestation/
Concern		TreatmentConsiderations/Other
Epilepsy Standardized treatment w/ASM
  • To date, no one ASM has been demonstrated effective specifically for SQSD.
  • Education of parents/caregivers 1
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Central visual
impairment 		No specific treatment, but early intervention may help stimulate visual development.
Congenital heart
defects 		Standard treatment per cardiologist
Sleep disturbance Consider a trial of melatonin.
Neonatal hepatitis Supportive care
Poor weight gain /
Failure to thrive 		Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia
Bowel dysfunction Stool softeners, prokinetics, osmotic agents or laxatives as needed
Cryptorchidism or
hypospadias 		Standard surgical treatment per urologist
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
Photosensitivity Avoidance of sun & UV light exposureSee Agents/Circumstances to Avoid.
Family/Community Ensure appropriate social work involvement to connect families w/local resources, respite, & support.Ongoing assessment of need for palliative care involvement &/or home nursing
Care coordination to manage multiple subspecialty appointments, equipment, medications, & suppliesConsider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability; 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.

From: Squalene Synthase Deficiency

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