Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome.

BACKGROUND: Overweight and obesity are common features of the rare disease Bardet-Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in the health and well-being of people with BBS. Objectively-measured sleep and physical activity patterns in people with BBS are not well known. We evaluated objectively-measured sleep and physical activity patterns in the largest cohort to date of people with BBS. RESULTS: Short sleep duration, assessed using wrist-worn accelerometers, was common in both children and adults with BBS. Only 7 (10%) of adults and 6 (8%) of children met age-specific sleep duration recommendations. Most adults 64 (90%) achieved recommended sleep efficiency. The majority of children 26 (67%) age 6-12 years achieved recommended sleep efficiency, but among children age 13-18, only 18 (47%). In both adults and children, sleep duration was significantly negatively correlated with duration of prolonged sedentary time. In children age 6-12 sleep duration was also significantly related to total activity score, children with lower sleep duration had lower total activity scores. CONCLUSIONS: Insufficient sleep duration is very common in people with BBS. Prolonged sedentary time and short sleep duration are both potentially important health-related behaviors to target for intervention in people with BBS.

The effect of botulinum toxin A (Botox) injections used to treat limb spasticity on speech patterns in children with dysarthria and cerebral palsy: A report of two cases.

Botulinum toxin A (Btx-A) injections are used to treat limb spasticity in children with cerebral palsy (CP) resulting in improved gross and fine motor control. This treatment has also been reported to have additional functional effects, but the effect of treatment on speech has not been reported. This report presents results of longitudinal speech evaluation of two children with CP given injections of Btx-A for treatment of limb spasticity. Speech evaluations were accomplished at baseline (date of injections) and 4- and 10-weeks post-injections. Improvements in production of consonants, loudness control, and syllables produced per breath were found. Parental survey also suggested improvements in subjects' speech production and willingness to speak outside the testing situation. Future larger studies are warranted to assess the nature of the changes observed related to Btx-A.

Tolerability and effectiveness of a neuroprosthesis for the treatment of footdrop in pediatric patients with hemiparetic cerebral palsy.

OBJECTIVE: To assess the tolerability and efficacy of a commercially available footdrop neuroprosthesis for treatment of footdrop in children with hemiparetic cerebral palsy. DESIGN: A prospective, observational pilot study. SETTING: Marshfield Clinic, Department of Physical Medicine. PARTICIPANTS: Ten children, ages 7-12 years, with hemiparetic cerebral palsy, who use an ankle foot orthosis (AFO) for correction of footdrop. METHODS: Children replaced their AFO with a transcutaneous peroneal (fibular) nerve stimulation neuroprosthesis for 3 months. MAIN OUTCOME MEASUREMENTS: The ability to tolerate fitting and programming of the device, device-recorded wear time, a daily-use diary, satisfaction survey, and secondary measures, including passive range of motion and gait laboratory measurement of gait velocity and ankle kinematics. RESULTS: All 10 participants (100%) tolerated fitting and programming of the neuroprosthesis and wore the device for 6 weeks. Seven of 10 (70%) wore the device for the entire 3-month study period; 6 of 10 (60%) continued to use the device after study completion. Wear time varied from 2 to 11 hours per day. Tolerability and satisfaction were high; although 6 participants complained of "size" and "bulkiness" of the device, and 2 reported skin irritation. Gait velocity increased in 5 subjects (50%). Seven participants (70%) preferred the neuroprosthesis to their AFO. CONCLUSION: Analysis of the preliminary evidence suggests that electrical stimulation by a footdrop neuroprosthesis is tolerated well by children and is effective for the treatment of footdrop in children with hemiparetic cerebral palsy. Commercially available neuroprostheses may offer a promising alternative treatment option for children with footdrop.