Faculty Bibliography

OBJECTIVE: To compare objective polysomnographic parameters between 3 cohorts: children with autism, typical development, and developmental delay without autism. DESIGN: Overnight polysomnographic recordings were scored for sleep architecture according to American Academy of Sleep Medicine criteria by a board-certified sleep medicine specialist blind to diagnosis for studies collected between July 2006 and September 2009. SETTING: Subjects were evaluated in the pediatric ward in the Clinical Research Center of the National Institutes of Health. PARTICIPANTS: First 60 consecutive children with autism, 15 with typical development, and 13 with developmental delay matched for nonverbal IQ to the autism group, ranging in age from 2 to 13 years, selected without regard to the presence or absence of sleep problem behavior. MAIN OUTCOME MEASURES: Total sleep time, latencies to non-rapid eye movement (REM) and REM sleep, and percentages of total sleep time for stages 1 and 2 sleep, slow-wave sleep, and REM sleep. RESULTS: There were no differences between the typical vs developmental delay groups. Comparison of children with autism vs typical children revealed shorter total sleep time (P = .004), greater slow-wave sleep percentage (P = .001), and much smaller REM sleep percentage (14.5% vs 22.6%; P < .001). Comparison of children with autism vs children with developmental delay revealed shorter total sleep time (P = .001), greater stage 1 sleep percentage (P < .001), greater slow-wave sleep percentage (P < .001), and much less REM sleep percentage (14.5% v 25%; P < .001). CONCLUSION: A relative deficiency of REM sleep may indicate an abnormality in neural organization in young children with autism that is not directly associated with or related to inherent intellectual disability but may serve as a window into understanding core neurotransmitter abnormalities unique to this disorder

A patient with a 14-year history of complex partial seizures presented with new onset of nocturnal symptoms consisting of hallucinations, vivid dreams, and gross motor activity. These episodes were not consistent with his previous seizures, which had consisted of a foul smell, automatisms, and an altered stage of consciousness. Prior to this presentation, the patient had been seizure-free for 3 years while taking antiepileptic medications

We report the case of a 71-year-old woman with progressive dementia over the course of 4 years, characterized by prominent pyramidal signs and by the lack of ataxia and other cerebellar signs. Creutzfeldt-Jakob disease (CJD) was not suspected during the patient's life. Autopsy brain tissue showed severe spongiform encephalopathy with kuru-like, but not florid, plaques in neocortex and cerebellum. Massive synaptic diffuse and plaque-like PrP(Sc) deposition was found in the cerebral cortex, striatum, cerebellum and brainstem. Genetic analysis revealed no PRNP gene mutations and methionine/valine heterozygosity (MV) at codon 129. The pathogenic scrapie prion protein (PrP(Sc)) pattern detected by Western blot was Type 2. However, this pattern showed a single unglycosylated band in contrast to the doublet described for MV2 subtype of sCJD with kuru plaques. In summary, this is an autopsy case report of a particular presentation of MV2 subtype of sCJD.