Table 5.

Treatment of Manifestations in Individuals with SLC6A1-Related Neurodevelopmental Disorder

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay / Intellectual disability See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy
  • Most persons w/SLC6A1-related seizures have generalized seizures.
  • ASM managed by experienced neurologist should be considered.
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Psychiatric/
Behavioral
  • Standard mgmt using behavioral strategies & neuropharmacologic interventions
  • Stimulants could be considered for mgmt of ADHD.
  • Risperidone or aripiprazole are FDA-approved medications for irritability & aggression assoc w/ASD.
Sleep disorder
  • Standard mgmt using behavioral strategies & neuropharmacologic interventions
  • Treatments for sleep may incl sleep hygiene, melatonin, clonidine, or trazodone.
Bowel dysfunction Standard treatments for constipation & diarrhea
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.

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; 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: SLC6A1-Related Neurodevelopmental Disorder

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