Self-reported sleep and breathing disturbances in Joubert Syndrome

Pediatric Neurology

Volumn 45, Issue 6, 2011, Pages 395-399

  Kamdar, Biren B ^a   Nandkumar, Preeya ^a   Krishnan, Vidya ^b   Gamaldo, Charlene E ^a   Collop, Nancy A ^c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b METROHEALTH MEDICAL CENTER   (United States)

^c EMORY CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; APNEA; ARTICLE; BREATHING DISORDER; CHILD; CLINICAL ARTICLE; EPWORTH SLEEPINESS SCALE; FEMALE; HUMAN; JOUBERT SYNDROME; MALE; MEDICAL HISTORY; PRESCHOOL CHILD; PRIORITY JOURNAL; QUESTIONNAIRE; SCHOOL CHILD; SELF REPORT; SLEEP DISORDER; SNORING; TACHYPNEA; WAKEFULNESS;

ADOLESCENT; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; EYE ABNORMALITIES; FEMALE; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; QUESTIONNAIRES; RESPIRATION DISORDERS; RETINA; SELF REPORT; SLEEP DISORDERS;

EID: 81855225865     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2011.09.005     Document Type: Article

References (34)

1. M.A. Parisi, D. Doherty, P.F. Chance, and I.A. Glass Joubert syndrome (and related disorders) (OMIM 213300) Eur J Hum Genet 15 2007 511 521 (Pubitemid 46681452)
2. M. Joubert, J.J. Eisenring, J.P. Robb, and F. Andermann Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation Neurology 19 1969 813 825
3. J.G. Gleeson, L.C. Keeler, and M.A. Parisi Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes Am J Med Genet [A] 125A 2004 125 134 (Pubitemid 38268843)
4. B.L. Maria, R.G. Quisling, and L.C. Rosainz Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance J Child Neurol 14 1999 368 376 (Pubitemid 29321096)
5. B.L. Maria, K.B. Hoang, and R.J. Tusa "Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation J Child Neurol 12 1997 423 430 (Pubitemid 28023531)
6. E. Boltshauser, and W. Isler Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis Neuropadiatrie 8 1977 57 66 (Pubitemid 8086225)
7. B.L. Maria, E. Boltshauser, S.C. Palmer, and T.X. Tran Clinical features and revised diagnostic criteria in Joubert syndrome J Child Neurol 14 1999 583 590
8. M.A. Parisi Clinical and molecular features of Joubert syndrome and related disorders Am J Med Genet [C] 151C 2009 326 340
9. A.T. Yachnis, and L.B. Rorke Neuropathology of Joubert syndrome J Child Neurol 14 1999 655 659 (Pubitemid 29489118)
10. L. Sztriha, L.I. Al-Gazali, G.R. Aithala, and M. Nork Joubert's syndrome: New cases and review of clinicopathologic correlation Pediatr Neurol 20 1999 274 281 (Pubitemid 29203438)
11. B. Kendall, D. Kingsley, S.R. Lambert, D. Taylor, and P. Finn Joubert syndrome: A clinico-radiological study Neuroradiology 31 1990 502 506 (Pubitemid 20044457)
12. L. Wolfe, H. Lakadamyali, and G.M. Mutlu Joubert syndrome associated with severe central sleep apnea J Clin Sleep Med 6 2010 384 388
13. R.G. Harmant-van, G. Aubert-Tulkens, D. Moulin, and G. Lyon Joubert syndrome: Clinical and anatomo-pathologic study: Etiopathogenetic hypotheses [in French] Rev Neurol (Paris) 139 1983 715 724 (Pubitemid 14201565)
14. R.L. Friede, and E. Boltshauser Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome Dev Med Child Neurol 20 1978 758 763 (Pubitemid 9073824)
15. R.J. Kuczmarski, C.L. Ogden, and S.S. Guo 2000 CDC growth charts for the United States: Methods and development Vital Health Stat 11 2002 1 190
16. W.H. Dietz, and M.C. Bellizzi Introduction: The use of body mass index to assess obesity in children Am J Clin Nutr 70 Suppl. 1999 123S 125S (Pubitemid 29461126)
17. M. Guillaume Defining obesity in childhood: Current practice Am J Clin Nutr 70 Suppl. 1999 126S 130S (Pubitemid 29461127)
18. M.W. Johns A new method for measuring daytime sleepiness: The Epworth Sleepiness Scale Sleep 14 1991 540 545
19. A.F. Stroe, T. Roth, and C. Jefferson Comparative levels of excessive daytime sleepiness in common medical disorders Sleep Med 11 2010 890 896
20. M.C. Melendres, J.M. Lutz, E.D. Rubin, and C.L. Marcus Daytime sleepiness and hyperactivity in children with suspected sleep-disordered breathing Pediatrics 114 2004 768 775 (Pubitemid 41529537)
21. R.D. Chervin, K. Hedger, J.E. Dillon, and K.J. Pituch Pediatric Sleep Questionnaire (PSQ): Validity and reliability of scales for sleep-disordered breathing, snoring, sleepiness, and behavioral problems Sleep Med 1 2000 21 32
22. R.D. Chervin, R.A. Weatherly, and S.L. Garetz Pediatric Sleep Questionnaire: Prediction of sleep apnea and outcomes Arch Otolaryngol Head Neck 133 2007 216 222 (Pubitemid 46457027)
23. J.E. Pellegrino, M.W. Lensch, M. Muenke, and P.F. Chance Clinical and molecular analysis in Joubert syndrome Am J Med Genet 72 1997 59 62 (Pubitemid 27377118)
24. O.S. Capdevila, L. Kheirandish-Gozal, E. Dayyat, and D. Gozal Pediatric obstructive sleep apnea: Complications, management, and long-term outcomes Proc Am Thorac Soc 5 2008 274 282 (Pubitemid 351237887)
25. N.J. Ali, D.J. Pitson, and J.R. Stradling Snoring, sleep disturbance, and behaviour in 4-5 year olds Arch Dis Child 68 1993 360 366 (Pubitemid 23084587)
26. T. Gislason, and B. Benediktsdottir Snoring, apneic episodes, and nocturnal hypoxemia among children 6 months to 6 years old: An epidemiologic study of lower limit of prevalence Chest 107 1995 963 966
27. A.H. Messner, and R. Pelayo Pediatric sleep-related breathing disorders Am J Otolaryngol 21 2000 98 107 (Pubitemid 30158314)
28. M. Weissbluth, A.T. Davis, J. Poncher, and J. Reiff Signs of airway obstruction during sleep and behavioral, developmental, and academic problems J Dev Behav Pediatr 4 1983 119 121 (Pubitemid 13046023)
29. C. Guilleminault, R. Winkle, R. Korobkin, and B. Simmons Children and nocturnal snoring: Evaluation of the effects of sleep related respiratory resistive load and daytime functioning Eur J Pediatr 139 1982 165 171 (Pubitemid 13203675)
30. J. Seghers, and A.L. Claessens Bias in self-reported height and weight in preadolescents J Pediatr 157 2010 911 916
31. O.A. De La, K.C. Jordan, and K. Ortiz Do parents accurately perceive their child's weight status? J Pediatr Health Care 23 2009 216 221
32. T. Ishikawa, B.L. Zhu, D.R. Li, D. Zhao, T. Michiue, and H. Maeda An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature Forensic Sci Int 179 2008 e67 e73
33. J.E. Dahlstrom, J. Cookman, and S. Jain Joubert syndrome: An affected female with bilateral colobomata Pathology 32 2000 283 285
34. A.R. Janecke, T. Muller, and I. Gassner Joubert-like syndrome unlinked to known candidate loci J Pediatr 144 2004 264 269 (Pubitemid 38869406)