Abstract
Sleep is a universal, highly preserved process, essential for human and animal life, whose complete functions are yet to be unravelled. Familial recurrence is acknowledged for some sleep disorders, but definite data are lacking for many of them. Genetic studies on sleep disorders have progressed from twin and family studies to candidate gene approaches to culminate in genome-wide association studies (GWAS). Several works disclosed that sleep-wake characteristics, in addition to electroencephalographic (EEG) sleep patterns, have a certain degree of heritability. Notwithstanding, it is rare for sleep disorders to be attributed to single gene defects because of the complexity of the brain network/pathways involved. Besides, the advancing insights in epigenetic gene-environment interactions add further complexity to understanding the genetic control of sleep and its disorders. This narrative review explores the current genetic knowledge in sleep disorders in children, following the International Classification of Sleep Disorders—Third Edition (ICSD-3) categorisation.
Highlights
Sleep is a universal, essential behaviour, persistent throughout evolution and across different species [1]
We focused on the principal sleep disorders affecting paediatric populations, following the six main categories of the International Classification of Sleep Disorders—Third Edition (ICSD-3): Insomnia, Sleep-related Breathing Disorders, Central Disorders of Hypersomnolence, Circadian Rhythm Sleep-Wake Disorders, Parasomnias and Sleep-Related Movement Disorders [21]
The ICSD-3 indicate a Narcolepsy type 1 (NT1) diagnosis if one or both of the following are present: (1) cataplexy and a mean sleep latency ≤8 min and two or more sleep-onset REM periods on a Multiple Sleep Latency Test; (2) the cerebrospinal fluid (CSF) hypocretin-1 concentration is either ≤110 pg/ or
Summary
Essential behaviour, persistent throughout evolution and across different species [1]. Genetic studies are showing that a common genetic background might play a pivotal role, constituting a linking point among these different conditions In this narrative review, we focused on the principal sleep disorders affecting paediatric populations, following the six main categories of the International Classification of Sleep Disorders—Third Edition (ICSD-3): Insomnia, Sleep-related Breathing Disorders, Central Disorders of Hypersomnolence, Circadian Rhythm Sleep-Wake Disorders, Parasomnias and Sleep-Related Movement Disorders [21]. The aim of our paper is to summarise the current evidence of the genetics of sleep disorders, including the most recent GWA studies To our knowledge, this is the first paper attempting to provide the present state of the art of the genetic aspects of all sleep disorders in paediatric populations. We emphasise the possible connections between genetics and the different sleep conditions, together with the relationships with neuropsychiatric or metabolic disorders
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