Table 4.

Treatment of Manifestations in Individuals with DDX3X-Related Neurodevelopmental Disorder

Manifestation/
Concern		TreatmentConsiderations/Other
DD/ID See Developmental Delay / Intellectual Disability Educational Issues.
Speech &
language 		By speech-language pathologistUse of augmentative & alternative communication strategies as needed
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & falls
  • For those w/scoliosis: consider bracing to prevent progression & secondary morbidity (e.g., pain, impaired ambulation, restrictive lung disease).
  • For those w/hypotonia/hypertonia: consider ankle-foot orthoses. If hypertonia is present evaluate need for spasticity treatment (e.g., baclofen, Botox®).
  • Consider need for positioning & mobility devices, disability parking placard.
Seizures Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for DDX3X-NDD.
  • Education of parents/caregivers 1
Psychiatric/
Behavioral 		See Developmental Delay / Intellectual Disability Educational Issues.
Poor weight gain/
Failure to thrive 		Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.
Bowel
dysfunction 		For constipationStool softeners, prokinetics, osmotic agents or laxatives as needed
Abnormal vision Standard treatment(s) as recommended by ophthalmologistCommunity vision services through early intervention or school district
Hearing Hearing aids may be helpful; per audiologist.Community hearing services through early intervention or school district
Cardiovascular Standard care per treating cardiologist
Respiratory Standard care per treating pulmonologist
Precocious
puberty 		Standard care per treating endocrinologist
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 for need of home nursing
  • Consider involvement in adaptive sports.

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

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: DDX3X-Related Neurodevelopmental Disorder

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