Bardet-Biedl Syndrome
What is Bardet-Biedl Syndrome?
Bardet-Biedl Syndrome (BBS) is a rare genetic condition that is characterized by 6 different features: obesity, kidney malformations, learning difficulties, impaired vision, polydactyly (more than 5 digits on each hand or foot), and hypogonadism. [1] An individual is diagnosed with BBS based on these different characteristics and genetic testing to confirm. [2] In most of North America and Europe, BBS has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. [3]
Bardet-Biedl Syndrome & Autism
Autism-related signs are present in 77% of BBS cases and about a third of children that have BBS have behavioral problems. [3,4] Behavioral problems include: emotional immaturity, outbursts, depression, lack of social dominance, OCD, frequent volatile outbursts, inappropriate, disinhibited behavior, inability to recognise social cues and shallow affect. [4] Autism is not a common comorbidity in those with BBS, there is a possibly a connection that case reports and studies have reported. Autism symptoms appear to be more prevalent in individuals with BBS than in the general population. One autism symptom that those with BBS share is the altered taste and smell, however there is no literature that says that those with BBS experience sensory difficulties.
Next Steps
Diet
It is recommended those with BBS eat a diet low in added sugars, and high in vegetables, whole grains, and lean protein to prevent obesity related complications such as diabetes and heart disease. [5]
If your child experiences kidney impairment, protein should be limited to maintain kidney functions. [6]
Supplements
There was no research on if those with BBS need to drink an oral supplement as they tend to not experience malnutrition.
Lifestyle
It is recommended that those with BBS participate in exercise regularly. [2]
BOTTOM LINE:
If you or a loved one has BBS, it is recommended that they eat a diet rich in vegetables, whole grains, and lean protein and low in sugars with exercise to prevent further complications associated with BBS characteristics.
