Sleep abnormalities in mentally retarded autistic subjects: Down's syndrome with mental retardation and normal subjects

Diomedi, Marina; Curatolo, Paolo; Scalise, Anna; Placidi, Fabio; Caretto, Flavia; Gigli, Gian Luigi

doi:10.1016/s0387-7604(99)00077-7

Cited by 109 publications

(76 citation statements)

References 26 publications

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“…Some studies could not detect a difference in the sleep architecture of ASD (Tanguay et al 1976;Elia et al 2000). Other studies reported increased duration of stage-1 sleep, decreased non-REM sleep and slow-wave sleep, fewer stage-2 EEG sleep spindles, and a lower number of rapid eye movements during REM sleep than controls (Diomedi et al 1999;Daoust et al 2004;Limoges et al 2005). This absence of consensus on the sleep architecture in ASD could be due to the difference in the severity of the disorder and in the age of the patients.…”

Section: Atypical Sleep and Circadian Rhythms In Autism Spectrum Disomentioning

confidence: 99%

The Possible Interplay of Synaptic and Clock Genes in Autism Spectrum Disorders

Bourgeron¹

2007

Cold Spring Harbor Symposia on Quantitative Biology

166

124

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Autism spectrum disorders (ASD) are complex neurodevelopmental conditions characterized by deficits in social communication, absence or delay in language, and stereotyped and repetitive behaviors. Results from genetic studies reveal one pathway associated with susceptibility to ASD, which includes the synaptic cell adhesion molecules NLGN3, NLGN4, and NRXN1 and a postsynaptic scaffolding protein SHANK3. This protein complex is crucial for the maintenance of functional synapses as well as the adequate balance between neuronal excitation and inhibition. Among the factors that could modulate this pathway are the genes controlling circadian rhythms. Indeed, sleep disorders and low melatonin levels are frequently observed in ASD. In this context, an alteration of both this synaptic pathway and the setting of the clock would greatly increase the risk of ASD. In this chapter, I report genetic and neurobiological findings that highlight the major role of synaptic and clock genes in the susceptibility to ASD. On the basis of these lines of evidence, I propose that future studies of ASD should investigate the circadian modulation of synaptic function as a focus for functional analyses and the development of new therapeutic strategies.

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Section: Atypical Sleep and Circadian Rhythms In Autism Spectrum Disomentioning

confidence: 99%

The Possible Interplay of Synaptic and Clock Genes in Autism Spectrum Disorders

Bourgeron¹

2007

Cold Spring Harbor Symposia on Quantitative Biology

166

124

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“…Beyond sleep apnea, however, sleep has been shown to be independently disturbed. Core sleep abnormalities include prolonged sleep latency, increased sleep fragmentation and light sleep and a reduction in rapid eye movement (REM) sleep with abnormal occulomotor movement frequency during this stage (Grubar et al, 1986, Hamaguchi et al, 1989, Diomedi et al, 1999, Levanon et al, 1999, Andreou et al, 2002. Only one study inspected quantitatively the EEG of DS patients during sleep and found a specific decrease of alpha power during REM sleep (Smigielska-Kuzia et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

Sleep and EEG features in genetic models of Down syndrome

Colas

Valletta

Takimoto-Kimura

et al. 2008

Neurobiology of Disease

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Down syndrome is characterized by a host of behavioral abnormalities including sleep disturbances. Sleep and EEG was studied at the age of 3 months in two mouse models of the condition, Ts65Dn and Ts1Cje, carrying one extra copy of partially overlapping segments of the mmu chromosome 16 (equivalent to the human chromosome 21). We found that the Ts65Dn mice showed increased waking amounts at the expense of non-REM sleep, increased theta power during sleep and a delayed sleep rebound after sleep deprivation. In contrast, Ts1Cje had limited sleep and EEG abnormalities, showing only a delayed sleep rebound after sleep deprivation and no difference in theta power. We previously found that mice over-expressing the human APPwt transgene, a gene triplicated in Ts65Dn but not Ts1Cje, also show increased wake and theta power during sleep. These results demonstrate abnormalities in sleep and EEG in Ts65Dn mice and underscore a possible correlation between App overexpression and hippocampal theta oscillations.

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“…Overall, these have focused on abnormalities in REM sleep, including immaturity in the organization of eye movements into discrete bursts [Tanguay et al, 1976], increased muscle twitches during REM sleep [Elia et al, 2000], and undifferentiated sleep in which features of non-REM and REM sleep are intermixed [Diomedi et al, 1999]. The prolonged sleep times, early wake times, and frequent interruptions in sleep noted in the survey literature have not been commented on in these PSG studies.…”

Section: Polysomnography (Psg)mentioning

confidence: 99%

“…In humans with a form of Parkinsonism called "multiple system atrophy," REM sleep behavior disorder has been linked to degeneration of dopaminergic neurons in the substantia nigra, a subcortical region involved in motor control [Gilman et al, 2003]. This finding, in light of increased phasic muscle activity in REM sleep in mentally retarded subjects with autism [Diomedi et al, 1999], raises the possibility that neurostructural or neurochemical abnormalities involving the brainstem or subcortical regions (that have downstream effects on the brainstem) may be associated with autism. However, one shortcoming of this case series was that medications were not specified.…”

Section: Polysomnography (Psg)mentioning

confidence: 99%

Sleep disorders, epilepsy, and autism

Malow

2004

Ment. Retard. Dev. Disabil. Res. Rev.

113

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The purpose of this review article is to describe the clinical data linking autism with sleep and epilepsy and to discuss the impact of treating sleep disorders in children with autism either with or without coexisting epileptic seizures. Studies are presented to support the view that sleep is abnormal in individuals with autistic spectrum disorders. Epilepsy and sleep have reciprocal relationships, with sleep facilitating seizures and seizures adversely affecting sleep architecture. The hypothesis put forth is that identifying and treating sleep disorders, which are potentially caused by or contributed to by autism, may impact favorably on seizure control and on daytime behavior. The article concludes with some practical suggestions for the evaluation and treatment of sleep disorders in this population of children with autism.

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Sleep abnormalities in mentally retarded autistic subjects: Down's syndrome with mental retardation and normal subjects

Cited by 109 publications

References 26 publications

The Possible Interplay of Synaptic and Clock Genes in Autism Spectrum Disorders

The Possible Interplay of Synaptic and Clock Genes in Autism Spectrum Disorders

Sleep and EEG features in genetic models of Down syndrome

Sleep disorders, epilepsy, and autism

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