Table 8.

Additional Treatments for Individuals with HPRT1 Disorders: LND

Manifestation/
Concern		TreatmentConsiderations/Other
Self-injurious
behavior 		Physical protective devices (restraints)
  • Required by virtually all persons at some point; often required daily
  • LND is exempt from laws that prevent use of restraints for extended periods.
Behavior therapy
  • Negative reinforcement methods (punishment) worsen behavior & should not be used.
  • Extinction methods work best, & require special expertise to implement.
Pharmacologic interventions
  • No medications reliably control self injury in LND.
  • Benzodiazepines often used to ↓ anxiety
  • Neuroleptics may worsen the dystonia.
Dental interventions
  • Tooth & mouth guards rarely reliable
  • Dental extraction required in the majority
Other difficult
behaviors 		Behavior therapyExtinction methods sometimes required to suppress other negative behaviors incl hitting, spitting, or foul language
Family/
Community 		Social worker interventionMany families benefit from online chat services where families share experiences.

LND = Lesch-Nyhan disease

From: HPRT1 Disorders

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