Restless sleep disorder (RSD) is a newly defined sleep related movement disorder characterized by large muscle movements (LMM) in sleep. We examined the sleep study, clinical characteristics, and daytime functioning in children with RSD and compared them to children with Periodic Limb Movement Disorder (PLMD) or Restless Legs Syndrome (RLS). Video polysomnography from 47 children with restless sleep was retrospectively reviewed for LMM and age- and sex- matched to 34 children with PLMD and 12 children with RLS. Data examined included PSG characteristics, ferritin, Pediatric Quality of Life (PedsQL), and Epworth Sleepiness Scores (ESS). Fourteen children met the clinical criteria for RSD with a LMM index of 5 or more per hour of sleep . Mean ESS was elevated in RSD patients compared to either the PLMD or RLS groups though the result did not reach statistical significance (RSD = 10.20 ± 6.81, PLMD = 6.19 ± 4.14, RLS = 6.25 ± 4.90). The PedsQL score was significantly decreased in the RLS group compared to RSD and was reduced overall in all three groups (PedsQL Total RSD= 70.76 ± 18.05, PLMD = 57.05 ± 20.33, RLS = 53.24 ± 16.97). Serum ferritin values were similar in all three groups (RSD= 26.89 ± 10.29, PLMD = 33.91 ± 20.31, RLS = 23.69 ± 12.94 ng/mL, P= NS). Children with RSD demonstrate increased daytime sleepiness compared to PLMD or RLS and all three disease groups decreased quality of life. Further studies are needed to examine long term consequences of RSD.

Ataxia with isolated vitamin E deficiency can present with a phenotype similar to a complex hereditary spastic paraplegia with dystonia and bradykinesia, but absent cerebellar ataxia or proprioceptive deficits. c Despite being rare, prompt recognition of ataxia with vitamin E deficiency is critical as supplementation stops disease progression in most cases.