Contrasting painless and painful phenotypes of pediatric restless legs syndrome: a twin family study

Champion, G. David; Bui, Minh; Aouad, Phillip; Sarraf, Sara; Donnelly, Theresa; Bott, Aneeka; Chapman, Cindy; Goh, Shuxiang; Ng, Georgia; Jaaniste, Tiina; Hopper, John L.

doi:10.1016/j.sleep.2020.08.024

Cited by 8 publications

(17 citation statements)

References 45 publications

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“…Larger studies using objective sleep measures are needed. We also found that only two studies assessed sleep disorders using diagnostic criteria [ 43 , 50 ••]. Most studies focused on traits related to insomnia, and future research examining other disorders in childhood and adolescence is needed.…”

Section: Future Directionsmentioning

confidence: 95%

“…Breitenstein et al [ 29 ••] estimated the heritability of daytime sleepiness to be 27% in 608 children (age 8 years, SD = 0.63) using parent reports. In addition, Champion et al [ 43 ] assessed pediatric restless legs syndrome (RLS) assessed by parent questionnaire and rated against 4 essential criteria defined by the International RLS Study Group in 2,033 twins aged 10.5 years (range 3–18). They found that heritability differed according to RLS subtype, being 14% for painless RLS but 64% for painful RLS.…”

Section: Heritability Of Sleep and Sleep Disorders In Childhood And Adolescencementioning

confidence: 99%

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Heritability of Sleep and Its Disorders in Childhood and Adolescence

Lewis

Gregory

2021

Curr Sleep Medicine Rep

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Purpose of Review This review summarizes recent literature on the heritability of sleep and sleep disorders in childhood and adolescence. We also identify gaps in the literature and priorities for future research. Recent Findings Findings indicate that age, measurement method, reporter, and timing of sleep measurements can influence heritability estimates. Recent genome-wide association studies (GWAS) have identified differences in the heritability of sleep problems when ancestral differences are considered, but sample sizes are small compared to adult GWAS. Most studies focus on sleep variables in the full range rather than on disorder. Studies using objective measures of sleep typically comprised small samples. Summary Current evidence demonstrates a wide range of heritability estimates across sleep phenotypes in childhood and adolescence, but research in larger samples, particularly using objective sleep measures and GWAS, is needed. Further understanding of environmental mechanisms and the interaction between genes and environment is key for future research.

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Section: Future Directionsmentioning

confidence: 95%

Section: Heritability Of Sleep and Sleep Disorders In Childhood And Adolescencementioning

confidence: 99%

Heritability of Sleep and Its Disorders in Childhood and Adolescence

Lewis

Gregory

2021

Curr Sleep Medicine Rep

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“…The painful phenotype of restless legs syndrome and primary dysmenorrhea qualify as primary pain disorders. We have shown, in prior publications, that they are also familial, with a probable genetic component [ 76 , 77 ].…”

Section: Discussionmentioning

confidence: 94%

Familial and Genetic Influences on the Common Pediatric Primary Pain Disorders: A Twin Family Study

et al. 2021

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The primary pain disorders of childhood are highly prevalent but have infrequently been studied collectively. Genetic influences have been suggested to be causally implicated. Surveys were sent to 3909 Australian twin families, assessing the lifetime prevalence of growing pains, migraine, headache, recurrent abdominal pain, low back pain, and persistent pain (not otherwise specified) in pediatric twins and their immediate family members. Comparisons between monozygous (MZ) and dizygous (DZ) twin pair correlations, concordances and odds ratios were performed to assess the contribution of additive genetic influences. Random-effects logistic regression modelling was used to evaluate relationships between twin individuals and their co-twins, mothers, fathers and oldest siblings with the subject conditions. Twin analyses of responses from 1016 families revealed significant influence of additive genetic effects on the presence of growing pains, migraine, and recurrent abdominal pain. The analyses for headache, low back pain, and persistent pain overall did not conclusively demonstrate that genetic influences were implicated more than shared environmental factors. Regression analyses demonstrated varying levels of significance in relationships between family members and twin individuals for the tested conditions, with strongest support for genetic influences in growing pains and migraine. These data, together with previously published association analyses, suggest common causal influences including genes.

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“…16,[91][92][93] Champion and colleagues also analyzed twin pairs with painful versus painless RLS and found that painful RLS showed heritability, whereas painless RLS was not genetically influenced but was associated with female sex, iron deficiency, and persistent pain disorders. 8 Sleep-related bruxism, or toothgrinding, has been studied in several twin samples. Most of these studies showed higher concordance in MZ than DZ twins, 94-98 with one study concluding neither genetic nor shared environmental factors impact bruxism.…”

Section: Sleep-related Movement Disordersmentioning

confidence: 99%

“…Over the past several decades, a growing body of evidence has highlighted the variability of sleep and sleep disorder characteristics between individuals. Significant variation is seen with normal parameters of sleep such as duration, 1 timing, 2 architecture, 3 and quality, 4,5 as well as phenotypes for sleep disorders such as insomnia, 6 obstructive sleep apnea (OSA), 7 restless legs syndrome (RLS), 8 circadian rhythms, 9 and bruxism. 10 Molecular genetic studies have identified numerous polymorphisms and other variants likely contributing to these phenotypes; however, it is clear that environmental influences also play a role in the inter-individual variability of many sleep characteristics.…”

Section: Introductionmentioning

confidence: 99%

Twin Studies in Sleep Medicine: A Review

McCall

Duncan

Watson

2021

MRAJ

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Sleep and sleep disorders are complex phenotypes with genetic, epigenetic, and environmental influences. Twin studies allow researchers to parse out how these factors influence variability in sleep outcomes such as sleep duration and quality, chronotype, and disorders such as insomnia, hypersomnia, sleep apnea, sleep-related movement disorders, and parasomnias. Twin studies assess the overlap in genetic influences for sleep variance and other medical and psychiatric disorders and allow exploration of gene-environment interactions. Longitudinal twin studies demonstrate how these interactions change over the course of a lifetime. In general, twin studies demonstrate that the heritability of common sleep measures such as duration, quality, and chronotype is about 30-50%; however, this can vary widely between samples according to age, sex, comorbidities, and geographic location. Similarly, the heritability of sleep disorders including insomnia, obstructive sleep apnea, and parasomnias is also around 30-50%, with higher estimates for disorders known to run in families, such as sleepwalking. Heritability estimates for medical and psychiatric problems including obesity, depression, post-traumatic stress disorder, and mortality are higher with short sleep duration (typically < 7 h/n), suggesting that short sleep activates disease-related gene expression. Significant genetic overlap exists between insomnia and issues such as obesity, chronic pain, depression, and psychosis. In this review, we describe the major findings of twin studies related to sleep and how they impact our understanding of this critical component of health and disease.

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Contrasting painless and painful phenotypes of pediatric restless legs syndrome: a twin family study

Cited by 8 publications

References 45 publications

Heritability of Sleep and Its Disorders in Childhood and Adolescence

Heritability of Sleep and Its Disorders in Childhood and Adolescence

Familial and Genetic Influences on the Common Pediatric Primary Pain Disorders: A Twin Family Study

Twin Studies in Sleep Medicine: A Review

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