Table 8.

Treatment of Manifestations: SETD2-NDD with Multiple Congenital Anomalies (c.5218C>T Pathogenic Variant)

Manifestation/
Concern		TreatmentConsiderations/Other
Feeding
difficulties
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Tracheomalacia/
Hypoventilation 		Consider tracheostomy in those w/significant issues.Neonates often benefit from a high level of care, such as admission to a Level IV neonatal intensive care unit.
Supplemental oxygenAs needed to support oxygen saturations; may be needed particularly during sleep
Developmental
Delay 		See Developmental Delay / Intellectual Disability Management Issues.
Seizures Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • In refractory cases, a ketogenic diet may be trialed.
  • Education of parents/caregivers 1
Joint
contractures 		Orthopedics / physical medicine & rehab / PT & OTConsider need for positioning & mobility devices, disability parking placard.
Sensorineural
hearing loss 		Hearing aids may be helpful; per otolaryngologist & audiologistCommunity hearing services through early intervention or school district
Conductive
hearing loss 		Standard treatment by otolaryngologistMay incl consideration of tympanostomy tubes
Coats disease /
Low visual
acuity /
Glaucoma &/or
cataracts 		Per treating ophthalmologistLaser photocoagulation & cryotherapy for Coats disease
Per low vision specialistIncl community & school services for visually impaired students
Congenital
heart defect 		Standard treatment per cardiologistConservative or surgical approaches according to specific heart defect & overall health status of patient
Cryptorchidism Standard treatment per urologist
Dysplastic
kidneys 		Standard treatment per neurologistKidney replacement therapy for end-stage kidney disease
Hyponatremia Sodium supplementationAfter eval for syndrome of SIADH has excluded this diagnosis 2
Skeletal
abnormalities 		Orthopedic & rehab evalOrthotics & splints &/or surgery as needed
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; OT = occupational therapy; PT = physical therapy; SIADH = syndrome of inappropriate antidiuretic hormone

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.

To date, SIADH has not been found in those with hyponatremia who have undergone evaluation.

From: SETD2 Neurodevelopmental Disorders

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