Background
Method
Search strategy
Syndrome | Search terms |
---|---|
Angelman syndrome (AS) | "Angelman*" OR "Angelman* syndrome" OR "Happy puppet syndrome" OR "Happy puppet" |
CHARGE syndrome (CS) | "CHARGE" OR "CHARGE syndrome" OR "CHARGE association" OR "Hall-Hittner* syndrome" OR "Hall* Hittner* syndrome" OR "Coloboma" |
*Cornelia de Lange syndrome (CdLS) | "Cornelia de Lange* syndrome" OR "CDLS" OR "De Lange* syndrome" OR "Branchmann-De Lange* syndrome" OR "BDLS" OR "Brachmann* syndrome" OR "Amstelodamensis typus degenerativus" OR "Amsterdam dwarf syndrome" OR "Amsterdam dwarfism" OR "Typus degenerativus amstelodamensis" |
*Cri du Chat syndrome (CdC) | "Cri-du-Chat" OR "Cat cry syndrome" OR "5p minus syndrome" OR "Chromosome 5p deletion syndrome" OR "5p- syndrome; Monosomy 5p" OR "5p deletion syndrome" OR "Chromosome 5p- syndrome" |
*Down Syndrome (DS) | "Down* syndrome" OR "Trisomy 21" OR "Trisomy G" OR "47,XX,+21" OR "47,XY,+2" |
*Fragile X syndrome (FXS) | "Fragile X" OR "Fragile-X" OR "Fragile X syndrome" OR "FXS" OR "FRAXA syndrome" OR "AFRAX" OR "Martin-Bell* syndrome" OR "Marker X syndrome" OR "fraX syndrome" OR "fra(X) syndrome" OR "X-linked mental retardation" OR "Macroorchidism" OR "Escalante* syndrome" OR "Escalante*" |
Hurler syndrome (Hurler) | "Hurler*" OR "Mucopolysaccharidosis Ih" OR "MPS1-H" OR "MPS1H" OR "Mucopolysaccharidosis type 1H" OR "Mucopolysaccharidosis type IH" OR "Hurler disease" OR "MPSIH" |
Jacobsen syndrome (JS) | "Jacobsen syndrome" OR "Jacobsen*" OR "JBS" OR "Chromosome 11q deletion syndrome" OR "Partial 11q monosomy syndrome" |
Juvenile neuronal ceroid-lipofuscinosis (JNCL) | "juvenile neuronal*" OR "JNCL" OR "Neuronal ceroid lipofuscinosis 3" OR "Juvenile neuronal ceroid lipofuscinosis" OR "Vogt Spielmeyer disease" OR "Spielmeyer Sjogren disease" OR "CLN3 disease" |
Lesch-Nyhan syndrome (LNS) | "Lesch-Nyhan syndrome" OR "LNS" OR "HPRT deficiency" OR "HPRT1 deficiency" OR "HPRT deficiency, complete" OR "Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency" OR "Lesch-Nyhan syndrome" OR "Lesch Nyhan disease" |
Mucopolysaccharidosis Type II (MPS II) | "Hunter*" OR "Mucopolysaccharidosis type II" OR "MPS II" OR "Attenuated MPS" OR "Severe MPS II" OR "Hunter syndrome" OR "Iduronate 2-sulfatase deficiency" OR "I2S deficiency" OR "MPS 2" |
Mucopolysaccharidosis Type IIIB (MPS IIIB) | "sanfilippo*" OR "Mucopolysaccharidosis type III" OR "Mucopoly-saccharidosis type 3" OR "Sanfilippo syndrome" OR "MPSIII" OR "Mucopolysaccharidosis type 3" OR "Sanfilippo disease" |
Mucopolysaccharidosis Type IV (MPS IV) | "Morquio*" OR "Morquio syndrome B" OR "Mucopolysaccharidosis type IVB" OR "MPS IVB" OR "MPS 4B" |
*Neurofibromatosis (NF) | "Neurofibromatosis" OR "Neurofibromatosis type 1" OR "Neurofibromatosis 1" OR "NF1" OR "Peripheral Neurofibromatosis" OR "Recklinghausen* disease" OR "Neurofibromatosis type 2" OR "Neurofibromatosis 2" OR "NF2" OR "Central neurofibromatosis" OR "Bilateral acoustic neurofibromatosis" OR "BANF" OR "Familial acoustic neuromas" |
Norrie disease (Norrie) | "Atrophia bulborum hereditaria" OR "Pseudoglioma" OR "Episkopi blindness" OR "Norrie*" OR "Norrie-Warburg syndrome" OR "Anderson-Warburg syndrome" OR "NDP" OR "Fetal iritis syndrome" |
*Prader–Willi syndrome (PWS) | "PWS" OR "Prader–Willi*" OR "Willi–Prader syndrome" OR "Prader–Labhart–Willi syndrome" |
*Rett Syndrome (Rett) | "Rett*" OR "Rett* syndrome" OR "Rett* disorder" OR "RTS" OR "RTT" OR "Cerebroatrophic hyperammonemia" OR "Autism-dementia-ataxia-loss of purposeful hand use syndrome" |
Smith–Lemli–Opitz syndrome (SLOS) | "Smith Lemli Opitz syndrome" OR "SLO syndrome" OR "7-Dehydrocholesterol reductase deficiency" OR "RSH syndrome" OR "SLOS" OR "Rutledge lethal multiple congenital anomaly syndrome" OR "Polydactyly, sex reversal, renal hypoplasia, and unilobular lung" OR "Lethal acrodysgenital syndrome" |
Smith–Magenis syndrome (SMS) | "Smith–Magenis*" OR "smith magenis" OR "Chromosome 17p11.2 deletion syndrome" OR "17p- syndrome" OR "17p11.2 monosomy" OR "chromosome 17p deletion syndrome" OR "deletion 17p syndrome" OR "partial monosomy 17p" OR "SMS" |
Tuberous Sclerosis Complex (TSC) | "Tuberous sclerosis" OR "Tuberous sclerosis syndrome" OR "Bourneville* disease" OR "Bourneville* phakomatosis" OR "Cerebral sclerosis" OR "Cerebral sclerosis syndrome" OR "Epiloia" OR "Sclerosis tuberose" OR "Tuberose sclerosis" OR "Tuberose sclerosis syndrome" OR "Tuberous sclerosis complex" OR "TSC" OR "TSS" |
*Williams syndrome (WS) | "William*" OR "William* syndrome" OR "Beuren* syndrome" OR "Elfin Facies syndrome" OR "Hypercalcemia-Supravalvar Aortic Stenosis" OR "Infantile hypercalcemia" OR "Supravalvar aortic stenosis syndrome" OR "WBS" OR "Williams-Beuren* syndrome" OR "WMS" OR "WS" OR "WBS" |
Sleep | "sleep*" OR "Non-24-hour sleep–wake disorder" OR "Non-24-hour sleep–wake syndrome" OR "Non-24-hour sleep–wake rhythm disorder" OR "Free running disorder" OR "Hypernychthemeral disorder" OR "N24HSWD" OR "Non-24-hour circadian rhythm disorder" OR "somniloquy" OR "sleep talking" OR "night talking" OR "Subwakefulness Syndrome" OR "sub wakefulness syndrome" OR "hypnagogic hallucination*" OR "Confusional arousal*" OR "sleep enuresis" OR "nocturnal enuresis" OR "night enuresis" OR "night* wet*" OR "nocturnal bed wet*" OR "rapid* eye movement behavi* disorder*" OR "REM behavi* disorder*" OR "Nightmare disorder*" OR "dream anxiety disorder*" OR "nightmare syndr*" OR "Non* Rapid Eye Movement Arousal" OR "NREM arousal" OR "Nocturnal eat*" OR "nocturnal drink*" OR "night eat*" OR "night drink*" OR "nocturnal Bruxism" OR "sleep bruxism" OR "nocturnal tooth*" OR "nocturnal teeth*" OR "night* walking" OR "sleep terror*" OR "night* terror*" OR "Parasomni*" OR "circadian rhythm disorder*" OR "circadian rhythm sleep*" OR "CRSD" OR "Central Alveolar Hypoventilation" OR "central alveolar hypovent*" OR "Central hypoventilat*" OR "Narcolepsy" OR "narcolep*" OR "hypersomnolen*" OR "hypersomni*" OR "isomni*" |
Study selection
Inclusion criteria | Exclusion criteria |
---|---|
Empirical peer-reviewed studies | Conference proceedings, magazines, dissertations, review articles and books |
Studies published or available in English | Studies only published or available in a language other than English |
Title or abstract indicates that the study reports on sleep within the genetic syndrome | Title or abstract does not mention any sleep key terms OR does not mention the genetic syndrome |
Sample with syndrome ≥ 5a | Sample with syndrome < 5 |
Studies reporting on live human participants | Studies reporting on animal participants, pure genetic or post-mortem studies |
Inclusion criteria | Exclusion criteria |
---|---|
Study reports the number of participants with the genetic syndrome who met a clinical cut-off for that syndrome (not an associated syndrome e.g., Fragile X-associated tremor/ataxia syndrome) | Study does not report the number of participants who met a clinical cut-off for that syndrome |
Study reports on a unique sample (or a potentially overlapping sample, but the proportion of overlap cannot be readily determined) | Study reports on exactly the same sample as reported in a previous study |
Participants recruited without any specific bias (e.g., not recruited for a drug trial for a sleep disorder) | Participants were recruited due to an existing sleep disorder |
Study reports the number of participants with the genetic syndrome who had a sleep disorder or difficulty | It is not possible to determine the number of participants with the sleep disorder or difficulty included in the study |
Data in the study were extractable for meta-analysis (e.g., number of participants presenting sleep disorder) | Data in the study were not extractable for meta-analysis (e.g., mean questionnaire scores) |
Sleep was reported as a naturally occurring phenomenon, not through manipulation | Sleep was reported as an adverse event of treatment or following experimental manipulation |
Study reports the number of participants experiencing a sleep disorder, not solely the number taking medication to treat a sleep disorder | Study reports only the number of participants who were taking medication for sleep disorder |
Study reports prevalence of sleep disorder or difficulty | Study reports only sleep times or architecture |
Quality criteria
Analysis
Results
Study characteristics
Prevalence of sleep disorders across syndromes
Between-syndrome contrasts and relative risk analyses of rates of sleep disorders
Sleep related breathing difficulties | Excessive daytime sleepiness | Sleep enuresis | Sleep bruxism | ‘General’ sleep difficulty | |
---|---|---|---|---|---|
Angelman | / | − 0.32 (0.16–0.63) [SMS] | + 7.22 (2.63–19.86) [PWS] | / | + 3.18 (1.72–5.90) [JS] + 2.12 (1.30–3.45) [WS] + 2.06 (1.28–3.32) [PWS] + 2.00 (1.25–3.20) [FXS] |
CHARGE | + 6.67 (1.85–24.08) [NF] | / | / | / | / |
Cornelia de Lange | − 0.30 (0.17–0.54) [MPSII] − 0.32 (0.18–0.58) [MPSIV] − 0.43 (0.23–0.82) [Hurler] | − 0.33 (0.17–0.65) [SMS] | / | / | / |
Down | + 5.33 (1.44–19.72) [NF] − 0.42 (0.26–0.67) [MPSII] − 0.44 (0.27–0.73) [MPSIV] | − 0.42 (0.23–0.75) [SMS] | / | + 3.00 (1.12–8.04) [WS] | / |
Fragile X | / | / | + 4.22 (1.46–12.21) [PWS] | / | − 0.37 (0.24–0.57) [SMS] − 0.42 (0.27–0.66) [MPSIIIB] − 0.48 (0.30–0.76) [Rett] − 0.50 (0.31–0.80) [AS] − 0.54 (0.33–0.87) [Hurler] |
Hurler | + 8.83 (2.50–31.18) [NF] − 0.69 (0.49–0.96) [MPSII] − 0.74 (0.52–1.04) [MPSIV] | / | / | / | + 2.95 (1.58–5.53) [JS] + 1.97 (1.20–3.24) [WS] + 1.91 (1.17–3.11) [PWS] + 1.86 (1.15–3.00) [FXS] |
Jacobsen | / | / | / | / | − 0.23 (0.13–0.42) [SMS] − 0.27 (0.15–0.48) [MPSIIIB] − 0.30 (0.16–0.56) [Rett] − 0.31 (0.17–0.58) [AS] − 0.34 (0.18–0.63) [Hurler] |
MPS II | + 12.83 (3.72–44.29) [NF] + 3.35 (1.85–6.05) [CdLs] + 2.41 (1.49–3.90) [DS] | / | / | / | / |
MPS IIIB | / | / | / | / | + 3.77 (2.07–6.88) [JS] + 2.52 (1.58–4.00) [WS] + 2.44 (1.55–3.84) [PWS] + 2.37 (1.52–3.70) [FXS] + 1.84 (1.27–2.67) [TSC] |
MPS IV | + 12.00 (3.47–41.56) [NF] + 3.13 (1.72–5.70) [CdLs] + 2.25 (1.38–3.68) [DS] | / | / | / | / |
Neurofibromatosis | − 0.08 (0.02–0.27) [MPSII] − 0.08 (0.02–0.29) [MPSIV] − 0.10 (0.03–0.37) [Hurler] − 0.13 (0.04–0.45) [WS] − 0.14 (0.04–0.50) [PWS] − 0.15 (0.04–0.54) [CHARGE] − 0.19 (0.05–0.69) [DS] | / | / | / | / |
Prader–Willi | + 7.17 (2.00–25.72) [NF] | / | − 0.14 (0.05–0.38) [AS] − 0.24 (0.08–0.69) [FXS] | / | − 0.36 (0.23–0.55) [SMS] − 0.41 (0.26–0.65) [MPSIIIB] − 0.47 (0.29–0.75) [Rett] − 0.49 (0.30–0.78) [AS] − 0.52 (0.32–0.85) [Hurler] |
Rett | / | / | / | / | + 3.32 (1.80–6.13) [JS] + 2.21 (1.37–3.58) [WS] + 2.15 (1.34–3.44) [PWS] + 2.09 (1.31–3.31) [FXS] |
Smith–Magenis | / | + 3.16 (1.59–6.29) [AS] + 3.00 (1.54–5.86) [CdLs] + 2.40 (1.33–4.35) [DS] | / | / | + 4.32 (2.40–7.77) [JS] + 2.88 (1.84–4.50) [WS] + 2.79 (1.80–4.33) [PWS] + 2.71 (1.77–4.17) [FXS] + 2.11 (1.49–3.00) [TSC] |
Tuberous Sclerosis Complex | / | / | / | / | − 0.47 (0.33–0.67) [SMS] − 0.54 (0.37–0.79) [MPSIIIB] |
Williams | + 7.83 (2.20–27.90) [NF] | / | / | − 0.33 (0.12–0.89) [DS] | − 0.35 (0.22–0.54) [SMS] − 0.40 (0.25–0.63) [MPSIIIB] − 0.45 (0.28–0.73) [Rett] − 0.51 (0.31–0.83) [Hurler] − 0.57 (0.29–0.77) [AS] |
Comparison of prevalence rates of sleep disorders within genetic syndromes
Discussion
Syndrome | Sleep-related breathing difficulties | Insomnia | Excessive daytime sleepiness | Sleep Enuresis | Sleep bruxism |
---|---|---|---|---|---|
Angelman | + | ++ | + | ++ | + |
CHARGE | ++ | – | – | – | – |
Cornelia de Lange | ++ | ++ | + | – | – |
Cri du Chat | – | – | – | – | – |
Down | ++ | ++ | + | + | ++ |
Fragile X | ++ | + | + | ++ | ++ |
Hurler | ++ | – | – | – | – |
Jacobsen | – | – | – | – | – |
Juvenile Neuronal Ceroid Lipofuscinosis | – | – | – | – | – |
Mucopolysaccharidosis Type II | ++ | – | – | – | – |
Mucopolysaccharidosis Type IIIB | + | – | – | – | – |
Mucopolysaccharidosis Type IVA | ++ | – | – | – | – |
Neurofibromatosis | + | ++ | ++ | – | – |
Prader–Willi | ++ | + | + | + | – |
Rett | + | ++ | + | – | + |
Smith–Magenis | – | + | ++ | – | – |
Smith–Lemli–Opitz | – | – | – | – | – |
Tuberous Sclerosis Complex | – | ++ | ++ | – | – |
Williams | ++ | ++ | + | + | + |