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Genetic and Rare Diseases Information Center (GARD)

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Bardet-Biedl syndrome

Other Names for this Disease
  • BBS
  • Biedl-Bardet Syndrome
  • Laurence Moon Bardet Biedl syndrome
  • Laurence Moon syndrome
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Your Question

My question is in regards to a student who was diagnosed with this condition who is experiencing behavior problems. Is this common for this syndrome, and what recommendations do you suggest if behavioral problems do persist?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are the signs and symptoms of Bardet-Biedl syndrome?

Bardet-Biedl syndrome (BBS) affects many parts of the body, and signs and symptoms of the condition can vary among affected individuals. One of the major features of BBS is progressive vision loss due to deterioration of the retina. Typically, this begins in mid-childhood with problems with night vision and is followed by the development of blind spots in the peripheral vision. These blind spots become bigger with time and eventually merge to produce tunnel vision. Most individuals also develop blurred central vision and become legally blind by adolescence or early adulthood.[1]

Other major signs and symptoms of BBS include obesity (which can cause type 2 diabetes, high blood pressure, and abnormally high cholesterol levels); kidney abnormalities; the presence of extra fingers and/or toes (polydactyly); intellectual disability or learning problems; and abnormalities of the genitalia. Most affected males are infertile because they produce reduced amounts of sex hormones. Other characteristics of the condition may include impaired speech; delayed development of motor skills; behavioral problems; and poor coordination. Additional features that have been reported in some people with BBS include distinctive facial features; dental abnormalities; unusually short or fused fingers and/or toes; a partial or complete loss of the sense of smell (anosmia); and other abnormalities.[1]
Last updated: 10/3/2011

Are behavioral problems common in individuals with Bardet-Biedl syndrome?

Behavioral differences have been reported in some individuals with Bardet-Biedl syndrome (BBS). Characteristics reported include emotional immaturity; frequent volatile outbursts; inappropriate and/or disinhibited behavior; an inability to recognize social cues; obsessive and compulsive tendencies; both inattentiveness and unwavering attention; and a preference for fixed routines. A study published in 2002 by Barnett et al reported that children with BBS showed increased levels of internalizing problems including feeling withdrawn and anxious or depressed. They also had higher levels of social, thought, and attention problems. A few children appeared to have some characteristics of autism, although none of them met the clinical criteria for diagnosis. The children also had increased scores on a measure of repetitive behavior, and most of the children were reported to be obsessive by their parents.[2]
Last updated: 2/8/2012

How might behavioral problems associated with Bardet-Biedl syndrome be managed?

A very wide range of behavioral characteristics have been reported in individuals with Bardet-Biedl syndrome (BBS); management likely depends on the specific characteristics that are present in each individual. Some affected individuals may have additional diseases or conditions that affect mental status, such as hyperammonemia. When present, any underlying disorder should be treated as appropriate.[3]

To our knowledge, no studies regarding how behavioral characteristics specific to Bardet-Biedl syndrome might be managed have been published. Unfortunately, research on etiology-related interventions for the behavioral characteristics of genetic syndromes is scarce.[4] Affected children should have a developmental assessment and/or educational evaluation for the purpose of intervention and planning.[5] Early intervention is important in ensuring that children with Bardet-Biedl syndrome reach their highest potential. Services that may be beneficial for those with intellectual or developmental disabilities and/or behavioral problems may include special education for children with cognitive impairment, and other medical, social, and/or vocational services.[6]It may be useful for all of the individuals involved in the child's care to make a collaborative effort to identify the child's specific behavioral characteristics, in addition to his/her strengths and weaknesses, in order to develop a management plan that might be effective.
Last updated: 2/10/2012