Sleep disorders, epilepsy, and autism

Malow, Beth A.

doi:10.1002/mrdd.20023

Cited by 113 publications

(65 citation statements)

References 29 publications

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“…[41][42][43][44] Taken together, these findings indicate that a subgroup of individuals with ASD and low melatonin levels could benefit from the use of melatonin as a therapeutic compound. Melatonin treatment seems to help patients with ASD to fall asleep and to sleep through the night, 37,[45][46][47][48] but it remains unknown if melatonin could have a more beneficial effect if given before 3 years of age. Further studies are required to determine the role of the melatonin deficit in the affected individuals, and more generally of circadian and seasonal rhythms, in the susceptibility to neuropsychiatric disorders.…”

Section: Discussionmentioning

confidence: 99%

Abnormal melatonin synthesis in autism spectrum disorders

et al. 2007

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Melatonin is produced in the dark by the pineal gland and is a key regulator of circadian and seasonal rhythms. A low melatonin level has been reported in individuals with autism spectrum disorders (ASD), but the underlying cause of this deficit was unknown. The ASMT gene, encoding the last enzyme of melatonin synthesis, is located on the pseudo-autosomal region 1 of the sex chromosomes, deleted in several individuals with ASD. In this study, we sequenced all ASMT exons and promoters in individuals with ASD (n = 250) and compared the allelic frequencies with controls (n = 255). Non-conservative variations of ASMT were identified, including a splicing mutation present in two families with ASD, but not in controls. Two polymorphisms located in the promoter (rs4446909 and rs5989681) were more frequent in ASD compared to controls (P = 0.0006) and were associated with a dramatic decrease in ASMT transcripts in blood cell lines (P = 2 Â 10 À10). Biochemical analyses performed on blood platelets and/or cultured cells revealed a highly significant decrease in ASMT activity (P = 2 Â 10 À12 ) and melatonin level (P = 3 Â 10 À11 ) in individuals with ASD. These results indicate that a low melatonin level, caused by a primary deficit in ASMT activity, is a risk factor for ASD. They also support ASMT as a susceptibility gene for ASD and highlight the crucial role of melatonin in human cognition and behavior.

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Section: Discussionmentioning

confidence: 99%

Abnormal melatonin synthesis in autism spectrum disorders

et al. 2007

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“…Critically, variations in excitatory tone are associated with deficits in social functioning [61] and in heightened seizure susceptibility [54,[62][63][64]. Exposure to toxic levels of DA and ASD also share in common abnormalities in limbic structures [64,65], particularly the hippocampus [66][67][68][69] and the amygdala [64,70,71], along with possible similarities in connectivity [72,73].…”

Section: Toxicity Of Domoic Acidmentioning

confidence: 99%

What California sea lions exposed to domoic acid might teach us about autism: lessons for predictive and preventive medicine

Lahvis

2017

EPMA Journal

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Autism spectrum disorder (ASD) shares many biological and behavioral similarities with the deleterious effects of domoic acid (DA) exposure. DA is produced by marine algae and most commonly by species of Pseudo-nitzschia. Humans and marine mammals can be exposed to DA when they consume whole fish or shellfish. The mammalian fetus is highly sensitive to the deleterious effects of DA exposure. Both ASD and exposures to toxic levels of DA feature repetitive behaviors, challenges with social interaction, and seizures. They can also share a commonality in brain anatomy and function, particularly the balance between excitatory and inhibitory mechanisms. The current article is relevant to predictive, preventive, and personalized medicine for three reasons. First, shellfish consumption may be a risk factor for ASD and the regulatory limit for DA should be adjusted to prevent this possibility. Human contributions to increased algal production of DA in coastal waters should be identified and reduced. Second, evaluations of sentinel species wild and free-roaming in the environment, though typically outside the purview of biomedical research, should be much more fully employed to gain insights to risk factors for human disease. To better identify and prevent disease, biomedical researchers shouldstudy wildpopulations.Third, studies of DA exposure highlight the possibility that glutamate additives to processed foods may also have deleterious impacts on human brain development and behavior.Keywords Domoic acid . Autism spectrum disorder . Glutamate . Behavior . Anatomy . Brain . Development . Predictive diagnosis . Targeted prevention . Population screening Autism and its prevalenceAutism spectrum disorder (ASD) is often diagnosed early in childhood and features deficits in social interaction and communication and includes repetitive behaviors and circumscribed interests [1,2]. The prevalence of autism is more common among boys than girls [3] and has increased substantially over the past 20 years [3,4]. ASD is the most highly heritable developmental disability yet researchers have identified only a few genetic susceptibility factors [5][6][7][8][9][10] that can account for a small fraction of the diagnosed population [10].

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“…Both A 1 Rs and A 2A Rs may be involved in adenosine's ability to promote sleep www.intechopen.com (Rainnie et al, 1994;Porkka-Heiskanen, 1999;Huang et al, 2005). Notably, increased seizure propensity, disturbed sleep and anxiety are all found commonly in persons with ASD (Malow, 2004;Polimeni et al, 2005;Oswald & Sonenklar, 2007), suggesting that an increased influence of adenosine could reduce all three co-morbidities. In dopamine-containing areas, A 2A Rs are expressed at higher levels than in other regions, and A 2A Rs have an opposing relationship with dopamine D 2 receptors.…”

Section: Purines and Autismmentioning

confidence: 99%

“…As just a few examples, there are well-documented comorbidities between epilepsy and depression/anxiety (Kanner, 2004(Kanner, , 2008LaFrance et al, 2008;Ekinci et al, 2009), schizophrenia (Hyde & Weinberger, 1997), and, more broadly, sleep disorders and psychiatric disorders (Reeves et al, 2010), including autism (Spence & Schneider, 2009;Jeste, 2011). As noted above, based on behavioral and physiological characteristics of ASD, including impaired sleep (Malow, 2004;Polimeni et al, 2005), increased seizures (Malow, 2004;Canitano, 2007;Spence & Schneider, 2009), anxiety (Chalfant et al, 2007), and perseverative behaviors (Ridley, 1994;Liss et al, 2006), an insufficient influence of adenosine might underlie some symptoms. These parallels are summarized in Figure 1.…”

Section: Symptoms Of Autism and Regulation Of Adenosinementioning

confidence: 99%