Table 5.

Shashi-Pena Syndrome: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability /
Neurobehavioral issues 		See Developmental Delay / Intellectual Disability Management Issues.
Dental anomalies Standard treatment per dentist/orthodontist
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
Feeding difficulties
  • Feeding therapy
  • Nasogastric or gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval
Obesity
  • Review of healthy eating habits
  • Surveillance for euglycemia, hyperlipidemia, hypertension
Consider referral to nutritionist.
Scoliosis, kyphosis, hip dysplasia Standard treatment per orthopedistMay require significant surgical intervention
Congenital heart defects Standard treatment per cardiologistSeveral persons w/ASDs have required surgical closure.
Ptosis, strabismus, refractive error Standard treatment per ophthalmologist
Hypoglycemia Standard treatment: dextrose, avoiding fasting, continuous feeds, octreotide, if appropriateConsider referral to endocrinologist.
Hearing
  • Rapid assessment & mgmt of recurrent otitis media; PE tubes may be indicated.
  • Hearing aids may be helpful per otolaryngologist.
  • Community hearing services through early intervention or school district
  • 1 affected person received cochlear implants.
Sleep apnea Standard treatment per otolaryngologist &/or sleep medicine specialist
Family/Community
  • 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.

ASD = atrial septal defect; ASM = anti-seizure medication; OT = occupational therapy; PE = pressure-equalizing; 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: Shashi-Pena Syndrome

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