Bardet-Biedl syndrome

Managing the behavior problems of Bardet-Biedl syndrome depends on which issues are present in each person. Children with this syndrome should have a developmental assessment or educational evaluation to develop a personalized plan. Early intervention is important so that children reach their highest potential.

Most affected males produce reduced amounts of sex hormones and are unable to father biological children. However, at least two men with Bardet-Biedl syndrome are known to have fathered children.

Behavioral problems have been reported in some people with Bardet-Biedl syndrome (BBS). The types of problems vary for each person but may include:

• Depression
• Throwing temper tantrums
• Misreading social cues like body language and expressions
• Obsessive behavior
• Not paying attention
• Preferring a strict routine

Some children have features of autism, but they usually do not meet the criteria for diagnosis.

There is no cure for Bardet-Biedl syndrome. Treatment generally focuses on the specific signs and symptoms in each individual:

• While there is no therapy for the progressive vision loss, early evaluation by a specialist can help to provide vision aids and mobility training. Additionally, education of affected children should include planning for future blindness.
• Management of obesity may include education, diet, exercise, and behavioral therapies beginning at an early age. Complications of obesity such as abnormally high cholesterol and diabetes mellitus are usually treated as they are in the general population.
• Management of intellectual disability includes early intervention, special education and speech therapy as needed. Many affected adults are able to develop independent living skills.
• Although kidney transplants have been successful, the immunosuppressants used after a transplant may contribute to obesity. Affected individuals may also need surgery for polydactyly (extra fingers and/or toes) or genital abnormalities.
• As children approach puberty, hormone levels should be monitored to determine if hormone replacement therapy is necessary. Additionally, it should not be assumed that affected individuals are infertile - so contraception advice should be offered.