Prader Willi Syndrome and excessive daytime sleepiness

Sleep Medicine Reviews

Volumn 12, Issue 1, 2008, Pages 65-75

  Camfferman, Danny ^a,b   Doug McEvoy, R ^a   O'Donoghue, Fergal ^c   Lushington, Kurt ^d  

^a REPATRIATION GENERAL HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c AUSTIN HEALTH   (Australia)

^d UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

Author keywords

Excessive daytime sleepiness; Hypothalamus; OSAS; Prader Willi Syndrome

Indexed keywords

BODY MASS; BREATHING DISORDER; DAYTIME SOMNOLENCE; GENETIC DISORDER; HUMAN; HYPOTHALAMUS DISEASE; PRADER WILLI SYNDROME; REVIEW; SLEEP DISORDER;

ADOLESCENT; ADULT; AGE OF ONSET; BODY MASS INDEX; CHILD; DISORDERS OF EXCESSIVE SOMNOLENCE; HUMANS; HYPOTHALAMUS; POLYSOMNOGRAPHY; PRADER-WILLI SYNDROME; RISK FACTORS; SLEEP APNEA, OBSTRUCTIVE;

EID: 38049057441     PISSN: 10870792     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.smrv.2007.08.005     Document Type: Review

References (80)

1. Holm V.A., Cassidy S.B., Butler M.G., et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91 (1993) 398-402
2. Waters J., Clarke D.J., and Corbett J.A. Educational and occupational outcome in Prader-Willi syndrome. Child Care Health Dev 16 (1990) 271-282
3. Wiggs L., and Stores G. Severe sleep disturbance and daytime challenging behaviour in children with severe learning disabilities. J Intellect Disabil Res 40 Part 6 (1996) 518-528
4. Cotton S., and Richdale A. Brief report: parental descriptions of sleep problems in children with autism, Down syndrome, and Prader-Willi syndrome. Res Dev Disabil 27 (2006) 151-161
5. Richdale A.L., and Prior M.R. The sleep/wake rhythm in children with autism. Eur Child Adolesc Psychiatry 4 (1995) 175-186
6. **The most important references are denoted by an asterisk. Richdale A.L., Cotton S., and Hibbit K. Sleep and behaviour disturbance in Prader-Willi syndrome: a questionnaire study. J Intellect Disabil Res 43 (1999) 380-392
7. Whittington J.E., Holland A.J., Webb T., et al. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. J Med Genet 38 (2001) 792-798
8. Kaplan J., Fredrickson P.A., and Richardson J.W. Sleep and breathing in patients with the Prader-Willi syndrome. Mayo Clin Proc 66 (1991) 1124-1126
9. Akefeldt A., Anvret M., Grandell U., et al. Parental exposure to hydrocarbons in Prader-Willi syndrome. Dev Med Child Neurol 37 (1995) 1101-1109
10. Clarren S.K., and Smith D.W. Prader-Willi syndrome. Variable severity and recurrence risk. Am J Dis Child 131 (1977) 798-800
11. Cassidy S.B., and Schwartz S. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine (Baltimore) 77 (1998) 140-151
12. Everman D.B., and Cassidy S.B. Genetics of childhood disorders: XII. Genomic imprinting: breaking the rules. J Am Acad Child Adolesc Psychiatry 39 (2000) 386-389
13. State M.W., and Dykens E.M. Genetics of childhood disorders: XV. Prader-Willi syndrome: genes, brain, and behavior. J Am Acad Child Adolesc Psychiatry 39 (2000) 797-800
14. Whittington J.E., Butler J.V., and Holland A.J. Changing rates of genetic subtypes of Prader-Willi syndrome in the UK. Eur J Hum Genet 15 (2007) 127-130
15. Wharton R.H., and Loechner K.J. Genetic and clinical advances in Prader-Willi syndrome. Curr Opin Pediatr 8 (1996) 618-624
16. Donaldson M.D., Chu C.E., Cooke A., et al. The Prader-Willi syndrome. Arch Dis Child 70 (1994) 58-63
17. Vgontzas A.N., Kales A., Seip J., et al. Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome. Am J Med Genet 67 (1996) 478-482
18. *. Clift S., Dahlitz M., and Parkes J.D. Sleep apnoea in the Prader-Willi syndrome. J Sleep Res 3 (1994) 121-126
19. Torrado M., Araoz V., Baialardo E., et al. Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study. Am J Med Genet A (2006)
20. Webb T., Whittington J., Clarke D., et al. A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS. Clin Genet 62 (2002) 273-281
21. Cassidy S.B., Forsythe M., Heeger S., et al. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet 68 (1997) 433-440
22. ASDATF. The Chicago criteria for measurements, definitions, and severity of sleep related breathing disorders in adults. In: Force ASDAT, editor. New Orleans, LA: Association of Professional Sleep Societies Conference; 1998.
23. Hertz G., Cataletto M., Feinsilver S.H., et al. Sleep and breathing patterns in patients with Prader Willi syndrome (PWS): effects of age and gender. Sleep 16 (1993) 366-371
24. *. Cassidy S.B., McKillop J.A., and Morgan W.J. Sleep disorders in Prader-Willi syndrome. Dysmorphol Clin Genet 4 (1990) 13-17
25. Richards A., Quaghebeur G., Clift S., et al. The upper airway and sleep apnoea in the Prader-Willi syndrome. Clin Otolaryngol 19 (1994) 193-197
26. Hiroe Y., Inoue Y., Higami S., et al. Relationship between hypersomnia and respiratory disorder during sleep in Prader-Willi syndrome. Psychiatry Clin Neurosci 54 (2000) 323-325
27. *. Manni R., Politini L., Nobili L., et al. Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors. Clin Neurophysiol 112 (2001) 800-805
28. *. Nevsimalova S., Vankova J., Stepanova I., et al. Hypocretin deficiency in Prader-Willi syndrome. Eur J Neurol 12 (2005) 70-72
29. *. Priano L., Grugni G., Miscio G., et al. Sleep cycling alternating pattern (CAP) expression is associated with hypersomnia and GH secretory pattern in Prader-Willi syndrome. Sleep Med 7 (2006) 627-633
30. Vgontzas A.N., Bixler E.O., Kales A., et al. Daytime sleepiness and REM abnormalities in Prader-Willi syndrome: evidence of generalized hypoarousal. Int J Neurosci 87 (1996) 127-139
31. *. Harris J.C., and Allen R.P. Is excessive daytime sleepiness characteristic of Prader-Willi syndrome? The effects of weight change. Arch Pediatr Adolesc Med 150 (1996) 1288-1293
32. Helbing-Zwanenburg B., Kamphuisen H.A., and Mourtazaev M.S. The origin of excessive daytime sleepiness in the Prader-Willi syndrome. J Intellect Disabil Res 37 (1993) 533-541
33. Sforza E., Krieger J., Geisert J., et al. Sleep and breathing abnormalities in a case of Prader-Willi syndrome. The effects of acute continuous positive airway pressure treatment. Acta Paediatr Scand 80 (1991) 80-85
34. Vgontzas A.N., Bixler E.O., Kales A., et al. Prader-Willi syndrome: effects of weight loss on sleep-disordered breathing, daytime sleepiness and REM sleep disturbance. Acta Paediatr 84 (1995) 813-814
35. Butler J.V., Whittington J.E., Holland A.J., et al. Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Dev Med Child Neurol 44 (2002) 248-255
36. *. O'Donoghue F.J., Camfferman D., Kennedy J.D., et al. Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalities. J Pediatr 147 (2005) 823-829
37. Haqq A.M., Farooqi I.S., O'Rahilly S., et al. Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. J Clin Endocrinol Metab 88 (2003) 174-178
38. Laurance B.M., Brito A., and Wilkinson J. Prader-Willi Syndrome after age 15 years. Arch Dis Child 56 (1981) 181-186
39. Clarke D.J., Boer H., Chung M.C., et al. Maladaptive behaviour in Prader-Willi syndrome in adult life. J Intellect Disabil Res 40 (1996) 159-165
40. Gottlieb D.J., Whitney C.W., Bonekat W.H., et al. Relation of sleepiness to respiratory disturbance index: the Sleep Heart Health Study. Am J Respir Crit Care Med 159 (1999) 502-507
41. Miller J., Silverstein J., Shuster J., et al. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. J Clin Endocrinol Metab 91 (2006) 413-417
42. Arens R., Gozal D., Burrell B.C., et al. Arousal and cardiorespiratory responses to hypoxia in Prader-Willi syndrome. Am J Respir Crit Care Med 153 (1996) 283-287
43. Livingston F.R., Arens R., Bailey S.L., et al. Hypercapnic arousal responses in Prader-Willi syndrome. Chest 108 (1995) 1627-1631
44. Schluter B., Buschatz D., Trowitzsch E., et al. Respiratory control in children with Prader-Willi syndrome. Eur J Pediatr 156 (1997) 65-68
45. Mallory Jr. G.B., Fiser D.H., and Jackson R. Sleep-associated breathing disorders in morbidly obese children and adolescents. J Pediatr 115 (1989) 892-897
46. Hakonarson H., Moskovitz J., Daigle K.L., et al. Pulmonary function abnormalities in Prader-Willi syndrome. J Pediatr 126 (1995) 565-570
47. Arens R., Gozal D., Omlin K.J., et al. Hypoxic and hypercapnic ventilatory responses in Prader-Willi syndrome. J Appl Physiol 77 (1994) 2224-2230
48. Holm V.A., and Laurnen E.L. Prader-Willi syndrome and scoliosis. Dev Med Child Neurol 23 (1981) 192-201
49. Festen D.A., de Weerd A.W., van den Bossche R.A., et al. Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment. J Clin Endocrinol Metab 91 (2006) 4911-4915
50. Harris J.C., and Allen R.P. Sleep disordered breathing and circadian disturbances of REM sleep in Prader Willi syndrome. Sleep Res 14 (1985) 235
51. Vela-Bueno A., Kales A., Soldatos C.R., et al. Sleep in the Prader-Willi syndrome. Clinical and polygraphic findings. Arch Neurol 41 (1984) 294-296
52. Oeverland B., Akre H., and Skatvedt O. Oral breathing in patients with sleep-related breathing disorders. Acta Otolaryngol 122 (2002) 651-654
53. Ulfberg J., Carter N., Talback M., et al. Excessive daytime sleepiness at work and subjective work performance in the general population and among heavy snorers and patients with obstructive sleep apnea. Chest 110 (1996) 659-663
54. Tauman R., O'Brien L.M., Barbe F., et al. Reciprocal interactions between spontaneous and respiratory arousals in adults with suspected sleep-disordered breathing. Sleep Med 7 (2006) 229-234
55. Smith I.E., King M.A., Siklos P.W., et al. Treatment of ventilatory failure in the Prader-Willi syndrome. Eur Respir J 11 (1998) 1150-1152
56. Doshi A., and Udwadia Z. Prader-Willi syndrome with sleep disordered breathing: effect of two years nocturnal CPAP. Indian J Chest Dis Allied Sci 43 (2001) 51-53
57. *. Nixon G.M., and Brouillette R.T. Sleep and breathing in Prader-Willi syndrome. Pediatr Pulmonol 34 (2002) 209-217
58. Antal S., and Levin H. Biliopancreatic diversion in Prader-Willi Syndrome associated with obesity. Obes Surg 6 (1996) 58-62
59. Esnault-Lavandier S., and Mabin D. The effects of clomipramine on diurnal sleepiness and respiratory parameters in a case of Prader-Willi syndrome. Neurophysiol Clin 28 (1998) 521-525
60. Menendez A.A. Abnormal ventilatory responses in patients with Prader-Willi syndrome. Eur J Pediatr 158 (1999) 941-942
61. Costa e Silva J.A. Sleep disorders in psychiatry. Metabolism 55 (2006) S40-S44
62. Mignot E., Lammers G.J., Ripley B., et al. The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Arch Neurol 59 (2002) 1553-1562
63. Arendt J. Complex effects of melatonin. Therapie 53 (1998) 479-488
64. Skene D.J., Lockley S.W., and Arendt J. Use of melatonin in the treatment of phase shift and sleep disorders. Adv Exp Med Biol 467 (1999) 79-84
65. Willig R.P., Braun W., Commentz J.C., et al. Circadian fluctuation of plasma melatonin in Prader-Willi's syndrome and obesity. Acta Endocrinol Suppl 279 (1986) 411-415
66. Tamarkin L., Abastillas P., Chen H.C., et al. The daily profile of plasma melatonin in obese and Prader-Willi syndrome children. J Clin Endocrinol Metab 55 (1982) 491-495
67. Muscatelli F., Abrous D.N., Massacrier A., et al. Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum Mol Genet 9 (2000) 3101-3110
68. *. Mignot E., Taheri S., and Nishino S. Sleeping with the hypothalamus: emerging therapeutic targets for sleep disorders. Nat Neurosci 5 Suppl. (2002) 1071-1075
69. Dauvilliers Y., Baumann C.R., Carlander B., et al. CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions. J Neurol Neurosurg Psychiatry 74 (2003) 1667-1673
70. Date Y., Murakami N., Toshinai K., et al. The role of the gastric afferent vagal nerve in ghrelin-induced feeding and growth hormone secretion in rats. Gastroenterology 123 (2002) 1120-1128
71. Tauber M., Conte Auriol F., Moulin P., et al. Hyperghrelinemia is a common feature of Prader-Willi syndrome and pituitary stalk interruption: a pathophysiological hypothesis. Horm Res 62 (2004) 49-54
72. Steiger A. Ghrelin and sleep-wake regulation. Am J Physiol Regul Integr Comp Physiol 292 (2007) R573-R574
73. Haqq A.M., Stadler D.D., Jackson R.H., et al. Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome. J Clin Endocrinol Metab 88 (2003) 2206-2212
74. Cacciari E., Zucchini S., Carla G., et al. Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: a study with magnetic resonance. Arch Dis Child 65 (1990) 1199-1202
75. Hashimoto T., Mori K., Yoneda Y., et al. Proton magnetic resonance spectroscopy of the brain in patients with Prader-Willi syndrome. Pediatr Neurol 18 (1998) 30-35
76. Hattori S., Mochio S., Kageyama A., et al. An autopsy case of Prader-Labhart-Willi syndrome. No To Shinkei 37 (1985) 1059-1066
77. Fronczek R., Lammers G.J., Balesar R., et al. The number of hypothalamic hypocretin (orexin) neurons is not affected in Prader-Willi syndrome. J Clin Endocrinol Metab 90 (2005) 5466-5470
78. Makris A.P., Rush C.R., Frederich R.C., et al. Wake-promoting agents with different mechanisms of action: comparison of effects of modafinil and amphetamine on food intake and cardiovascular activity. Appetite 42 (2004) 185-195
79. Randomized trial of modafinil for the treatment of pathological somnolence in narcolepsy. US Modafinil in Narcolepsy Multicenter Study Group. Ann Neurol 1998;43:88-97.
80. Randomized trial of modafinil as a treatment for the excessive daytime somnolence of narcolepsy: US Modafinil in Narcolepsy Multicenter Study Group. Neurology 2000;54:1166-75.