According to a recent article, a study looked at the symptoms of Bardet-Biedl syndrome that can affect a patient’s sleep patterns.

Bardet-Biedl Syndrome

Bardet-Biedl syndrome is a rare disorder that affects many systems of the body but is primarily characterized by the deterioration of cells that receive light (i.e. cone and rod cells) and in the retina, an extra finger or toe, truncal obesity, renal abnormalities, and learning difficulties. Bardet-Biedl syndrome shows significant overlap with Laurence-Moon syndrome, and these conditions, now distinguished, were once thought to be the same.

Symptoms:

The specific signs and symptoms of Bardet-Biedl syndrome, as well as their severity, vary greatly between individual patients. Visual impairment is one of the most characteristic symptoms of the condition, and it progresses (worsens) throughout the patient’s life, amounting to tunnel vision, nightblindness, or even complete vision loss. Additional vision abnormalities include crossed eyes, rapid eye movements, cataracts, and glaucoma. Along with an additional finger or toe near the fifth digit, webbing of the fingers or toes, abnormally short digits, and short, wide, and flat feet may also occur in patients. Other associated symptoms of Bardet-Biedl syndrome include the following:

• Delayed puberty or problems with development of the sex organs in both males and females
• Delays in speaking or speech impairment
• Behavioral problems, such as anxiety, depression, and OCD
• High blood pressure
• Abnormal gait
• Loss of the ability to smell
• Ataxia

The Study

The study looked at 32 patients who were diagnosed with Bardet-Biedl syndrome (BBS). It was observational and done in a single center. Researchers looked at two major aspects to determine if a BBS diagnosis causes sleep issues.

For the first aspect, they looked at sleep apnea by performing overnight respiratory polygraphs on 30 of the patients. Next, they looked to determine patients’ quality of sleep, their levels of sleepiness during the day, and general fatigue. Researchers did this by having 25 patients use the Pittsburgh sleep quality index, a 14-day sleep diary, Epworth sleepiness scale, Pichot fatigue scale, and Horne and Ostberg morningness-eveningness questionaries.

Results

The study showed that 17% of patients in the study suffered from moderate to severe sleep apnea syndrome. This percentage is high considering the age of the patients studied. 63% of patients considered their sleep to be of good quality. The results of the sleep quality, daytime sleepiness, and fatigue proved to be in the normal range.

Overall, the study showed that patients diagnosed with Bardet-Biedl syndrome have good sleeping patterns and receive quality sleep with normal daytime sleepiness. However, due to the high number of patients that presented with severe sleep apnea syndrome, those with BBS should be screened for it even if they do not have any sleeping issues.