Table 5.

Congenital NAD Deficiency Disorder: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Cleft palate Standard treatment per craniofacial team
Hearing Hearing aids may be helpful per otolaryngologist.Community hearing services through early intervention or school district
Scoliosis, clubfeet, & limb anomalies Standard treatment per orthopedist
Tethered spinal cord Standard treatment per neurosurgeon
Congenital heart defects Standard treatment per cardiologist
Renal aplasia, hypoplasia, & dysplasia Standard treatment per nephrologistThis typically incl routine monitoring of kidney function & blood pressure (See Table 6.)
Tracheoesophageal fistula, pyloric stenosis, &/or laryngeal web Standard treatment per gastroenterologist &/or otolaryngologist
Polysplenia Standard treatment per hematologist &/or immunologist
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
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
Hypothyroidism or hypoparathyroidism Standard treatment per endocrinologist
Strabismus & ptosis Standard treatment per ophthalmologist
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.

ASM = anti-seizure medication

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: Congenital NAD Deficiency Disorder

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