Handbook of Genetic Counseling/Bardet-Biedl Syndrome-1

Bardet-Biedl Syndrome

Introduction

• How have thing been going since we saw you last?

Contracting

• Are there some major issues that you want to make sure are addressed today?
• We will gather medical information, any changes in the family, physical exam

Interim History

• Hospitalizations?
• Surgeries?
• Illnesses?
• Any doctor visits?
• Ophthalmology visit?
• How's the eating schedule been going?
  • Regular meal times?
  • Modified meals?
  • Scheduled snack times?
  • Restricted to one helping at meals?
• Is involved in any school-type programs?
  • EI preschool referral
• Behavior issues
• Developmental issues
  • speech difficulties?
  • Motor issues (walking, running)
  • Know colors/body parts
  • Potty trained

Psychosocial assessment

Establish Plan

• Reiterate plan that was agreed upon in case (i.e. hospitalization in two weeks time? Vs. continue with strenuous weight loss plan)
• Reassess parents' state of mind and emotional level
• Make sure parents understand importance and necessity of 1) eye appointment & 2) weight loss

Notes

The information in this outline was last updated in 2000.