Self-Reported Sleep and Breathing Disturbances in Joubert Syndrome
Abstract Joubert syndrome is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and respiratory variability. Because little is known about sleep and ventilatory dysregulation in this patient population, a questionnaire was dist...
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Published in | Pediatric neurology Vol. 45; no. 6; pp. 395 - 399 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
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Elsevier Inc
01.12.2011
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Abstract | Abstract Joubert syndrome is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and respiratory variability. Because little is known about sleep and ventilatory dysregulation in this patient population, a questionnaire was distributed at the Joubert Syndrome and Related Disorders Foundation Conference. This questionnaire addressed respiratory and sleep abnormalities, and included the Pediatric Sleep Questionnaire. Parents or proxies completed questionnaires for patients unable to do so themselves because of young age or neurologic problems. Twenty surveys were collected. The median age was 8.3 years, and 45% were female. Seven patients (35%) reported existing episodic tachypnea, four (20%) reported apnea, and three (15%) reported both. Snoring was reported by 10 patients (50%), of whom four snored nightly and five had coexisting daytime tachypnea. Six of 14 (43%) Pediatric Sleep Questionnaire responders had scores suggestive of sleep-related breathing disorder. These results suggest that episodic tachypnea, apnea, snoring, and Pediatric Sleep Questionnaire scores suggestive of sleep-related breathing disorder are common in Joubert syndrome. Early detection and improved understanding of sleep and breathing abnormalities may contribute to improved outcomes for patients with Joubert syndrome. |
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AbstractList | Joubert syndrome is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and respiratory variability. Because little is known about sleep and ventilatory dysregulation in this patient population, a questionnaire was distributed at the Joubert Syndrome and Related Disorders Foundation Conference. This questionnaire addressed respiratory and sleep abnormalities, and included the Pediatric Sleep Questionnaire. Parents or proxies completed questionnaires for patients unable to do so themselves because of young age or neurologic problems. Twenty surveys were collected. The median age was 8.3 years, and 45% were female. Seven patients (35%) reported existing episodic tachypnea, four (20%) reported apnea, and three (15%) reported both. Snoring was reported by 10 patients (50%), of whom four snored nightly and five had coexisting daytime tachypnea. Six of 14 (43%) Pediatric Sleep Questionnaire responders had scores suggestive of sleep-related breathing disorder. These results suggest that episodic tachypnea, apnea, snoring, and Pediatric Sleep Questionnaire scores suggestive of sleep-related breathing disorder are common in Joubert syndrome. Early detection and improved understanding of sleep and breathing abnormalities may contribute to improved outcomes for patients with Joubert syndrome. Abstract Joubert syndrome is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and respiratory variability. Because little is known about sleep and ventilatory dysregulation in this patient population, a questionnaire was distributed at the Joubert Syndrome and Related Disorders Foundation Conference. This questionnaire addressed respiratory and sleep abnormalities, and included the Pediatric Sleep Questionnaire. Parents or proxies completed questionnaires for patients unable to do so themselves because of young age or neurologic problems. Twenty surveys were collected. The median age was 8.3 years, and 45% were female. Seven patients (35%) reported existing episodic tachypnea, four (20%) reported apnea, and three (15%) reported both. Snoring was reported by 10 patients (50%), of whom four snored nightly and five had coexisting daytime tachypnea. Six of 14 (43%) Pediatric Sleep Questionnaire responders had scores suggestive of sleep-related breathing disorder. These results suggest that episodic tachypnea, apnea, snoring, and Pediatric Sleep Questionnaire scores suggestive of sleep-related breathing disorder are common in Joubert syndrome. Early detection and improved understanding of sleep and breathing abnormalities may contribute to improved outcomes for patients with Joubert syndrome. |
Author | Collop, Nancy A., MD Gamaldo, Charlene E., MD Nandkumar, Preeya, BA Krishnan, Vidya, MD, MHS Kamdar, Biren B., MD, MBA, MHS |
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CitedBy_id | crossref_primary_10_1016_j_sleep_2018_08_016 crossref_primary_10_1016_S1474_4422_13_70136_4 crossref_primary_10_1007_s11910_018_0850_6 crossref_primary_10_1055_s_0042_1760240 crossref_primary_10_1002_ajmg_a_61399 crossref_primary_10_1002_ppul_22867 crossref_primary_10_1378_chest_14_1971 crossref_primary_10_7759_cureus_9718 crossref_primary_10_1016_j_jsmc_2023_01_002 crossref_primary_10_1007_s10286_023_00958_6 crossref_primary_10_1016_j_jsmc_2014_05_009 crossref_primary_10_2147_NSS_S369097 crossref_primary_10_1007_s11910_019_0968_1 crossref_primary_10_1136_bcr_2017_220459 crossref_primary_10_1055_s_0042_1759532 |
Cites_doi | 10.1016/j.jpeds.2010.06.038 10.1007/BF00340131 10.1093/ajcn/70.1.123s 10.1002/ajmg.a.20437 10.1016/S0196-0709(00)85005-X 10.1093/ajcn/70.1.126s 10.1212/WNL.19.9.813 10.1080/pat.32.4.283.285 10.1016/S1389-9457(99)00009-X 10.1111/j.1469-8749.1978.tb15307.x 10.1016/j.sleep.2010.04.010 10.1177/088307389701200703 10.1016/j.forsciint.2008.06.003 10.1513/pats.200708-138MG 10.1016/j.jpeds.2003.11.010 10.1378/chest.107.4.963 10.1177/088307389901400605 10.1177/088307389901401006 10.1016/j.pedhc.2007.12.014 10.1136/adc.68.3.360 10.1016/S0887-8994(98)00154-4 10.1002/(SICI)1096-8628(19971003)72:1<59::AID-AJMG12>3.0.CO;2-T 10.1038/sj.ejhg.5201648 10.1097/00004703-198306000-00008 10.1007/BF01377349 10.1542/peds.2004-0730 10.1177/088307389901400906 10.1055/s-0028-1091505 10.1001/archotol.133.3.216 10.1002/ajmg.c.30229 10.5664/jcsm.27882 10.1093/sleep/14.6.540 |
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Keywords | Nervous system diseases Malformation Joubert syndrome Central nervous system disease Sleep disorder Neurological disorder Genetic disease Cerebral disorder |
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References | Kendall, Kingsley, Lambert, Taylor, Finn (bib11) 1990; 31 Chervin, Weatherly, Garetz (bib22) 2007; 133 Maria, Hoang, Tusa (bib5) 1997; 12 Harmant-van, Aubert-Tulkens, Moulin, Lyon (bib13) 1983; 139 Kuczmarski, Ogden, Guo (bib15) 2002; 11 Maria, Quisling, Rosainz (bib4) 1999; 14 Janecke, Muller, Gassner (bib34) 2004; 144 Gleeson, Keeler, Parisi (bib3) 2004; 125A Sztriha, Al-Gazali, Aithala, Nork (bib10) 1999; 20 De La, Jordan, Ortiz (bib31) 2009; 23 Dahlstrom, Cookman, Jain (bib33) 2000; 32 Pellegrino, Lensch, Muenke, Chance (bib23) 1997; 72 Stroe, Roth, Jefferson (bib19) 2010; 11 Gislason, Benediktsdottir (bib26) 1995; 107 Johns (bib18) 1991; 14 Capdevila, Kheirandish-Gozal, Dayyat, Gozal (bib24) 2008; 5 Friede, Boltshauser (bib14) 1978; 20 Guillaume (bib17) 1999; 70 Guilleminault, Winkle, Korobkin, Simmons (bib29) 1982; 139 Parisi, Doherty, Chance, Glass (bib1) 2007; 15 Seghers, Claessens (bib30) 2010; 157 Maria, Boltshauser, Palmer, Tran (bib7) 1999; 14 Wolfe, Lakadamyali, Mutlu (bib12) 2010; 6 Ali, Pitson, Stradling (bib25) 1993; 68 Chervin, Hedger, Dillon, Pituch (bib21) 2000; 1 Joubert, Eisenring, Robb, Andermann (bib2) 1969; 19 Weissbluth, Davis, Poncher, Reiff (bib28) 1983; 4 Dietz, Bellizzi (bib16) 1999; 70 Parisi (bib8) 2009; 151C Melendres, Lutz, Rubin, Marcus (bib20) 2004; 114 Boltshauser, Isler (bib6) 1977; 8 Messner, Pelayo (bib27) 2000; 21 Ishikawa, Zhu, Li, Zhao, Michiue, Maeda (bib32) 2008; 179 Yachnis, Rorke (bib9) 1999; 14 Guilleminault (10.1016/j.pediatrneurol.2011.09.005_bib29) 1982; 139 Kuczmarski (10.1016/j.pediatrneurol.2011.09.005_bib15) 2002; 11 Parisi (10.1016/j.pediatrneurol.2011.09.005_bib1) 2007; 15 Seghers (10.1016/j.pediatrneurol.2011.09.005_bib30) 2010; 157 Dietz (10.1016/j.pediatrneurol.2011.09.005_bib16) 1999; 70 Ishikawa (10.1016/j.pediatrneurol.2011.09.005_bib32) 2008; 179 Pellegrino (10.1016/j.pediatrneurol.2011.09.005_bib23) 1997; 72 Ali (10.1016/j.pediatrneurol.2011.09.005_bib25) 1993; 68 Gleeson (10.1016/j.pediatrneurol.2011.09.005_bib3) 2004; 125A Joubert (10.1016/j.pediatrneurol.2011.09.005_bib2) 1969; 19 Capdevila (10.1016/j.pediatrneurol.2011.09.005_bib24) 2008; 5 De La (10.1016/j.pediatrneurol.2011.09.005_bib31) 2009; 23 Maria (10.1016/j.pediatrneurol.2011.09.005_bib4) 1999; 14 Parisi (10.1016/j.pediatrneurol.2011.09.005_bib8) 2009; 151C Chervin (10.1016/j.pediatrneurol.2011.09.005_bib22) 2007; 133 Chervin (10.1016/j.pediatrneurol.2011.09.005_bib21) 2000; 1 Friede (10.1016/j.pediatrneurol.2011.09.005_bib14) 1978; 20 Stroe (10.1016/j.pediatrneurol.2011.09.005_bib19) 2010; 11 Maria (10.1016/j.pediatrneurol.2011.09.005_bib5) 1997; 12 Weissbluth (10.1016/j.pediatrneurol.2011.09.005_bib28) 1983; 4 Yachnis (10.1016/j.pediatrneurol.2011.09.005_bib9) 1999; 14 Kendall (10.1016/j.pediatrneurol.2011.09.005_bib11) 1990; 31 Harmant-van (10.1016/j.pediatrneurol.2011.09.005_bib13) 1983; 139 Boltshauser (10.1016/j.pediatrneurol.2011.09.005_bib6) 1977; 8 Dahlstrom (10.1016/j.pediatrneurol.2011.09.005_bib33) 2000; 32 Janecke (10.1016/j.pediatrneurol.2011.09.005_bib34) 2004; 144 Maria (10.1016/j.pediatrneurol.2011.09.005_bib7) 1999; 14 Guillaume (10.1016/j.pediatrneurol.2011.09.005_bib17) 1999; 70 Wolfe (10.1016/j.pediatrneurol.2011.09.005_bib12) 2010; 6 Messner (10.1016/j.pediatrneurol.2011.09.005_bib27) 2000; 21 Sztriha (10.1016/j.pediatrneurol.2011.09.005_bib10) 1999; 20 Gislason (10.1016/j.pediatrneurol.2011.09.005_bib26) 1995; 107 Johns (10.1016/j.pediatrneurol.2011.09.005_bib18) 1991; 14 Melendres (10.1016/j.pediatrneurol.2011.09.005_bib20) 2004; 114 |
References_xml | – volume: 144 start-page: 264 year: 2004 end-page: 269 ident: bib34 article-title: Joubert-like syndrome unlinked to known candidate loci publication-title: J Pediatr contributor: fullname: Gassner – volume: 125A start-page: 125 year: 2004 end-page: 134 ident: bib3 article-title: Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes publication-title: Am J Med Genet [A] contributor: fullname: Parisi – volume: 4 start-page: 119 year: 1983 end-page: 121 ident: bib28 article-title: Signs of airway obstruction during sleep and behavioral, developmental, and academic problems publication-title: J Dev Behav Pediatr contributor: fullname: Reiff – volume: 139 start-page: 715 year: 1983 end-page: 724 ident: bib13 article-title: Joubert syndrome: Clinical and anatomo-pathologic study: Etiopathogenetic hypotheses publication-title: Rev Neurol (Paris) contributor: fullname: Lyon – volume: 11 start-page: 1 year: 2002 end-page: 190 ident: bib15 article-title: 2000 CDC growth charts for the United States: Methods and development publication-title: Vital Health Stat contributor: fullname: Guo – volume: 14 start-page: 540 year: 1991 end-page: 545 ident: bib18 article-title: A new method for measuring daytime sleepiness: The Epworth Sleepiness Scale publication-title: Sleep contributor: fullname: Johns – volume: 151C start-page: 326 year: 2009 end-page: 340 ident: bib8 article-title: Clinical and molecular features of Joubert syndrome and related disorders publication-title: Am J Med Genet [C] contributor: fullname: Parisi – volume: 21 start-page: 98 year: 2000 end-page: 107 ident: bib27 article-title: Pediatric sleep-related breathing disorders publication-title: Am J Otolaryngol contributor: fullname: Pelayo – volume: 68 start-page: 360 year: 1993 end-page: 366 ident: bib25 article-title: Snoring, sleep disturbance, and behaviour in 4–5 year olds publication-title: Arch Dis Child contributor: fullname: Stradling – volume: 179 start-page: e67 year: 2008 end-page: e73 ident: bib32 article-title: An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature publication-title: Forensic Sci Int contributor: fullname: Maeda – volume: 12 start-page: 423 year: 1997 end-page: 430 ident: bib5 article-title: “Joubert syndrome” revisited: Key ocular motor signs with magnetic resonance imaging correlation publication-title: J Child Neurol contributor: fullname: Tusa – volume: 20 start-page: 274 year: 1999 end-page: 281 ident: bib10 article-title: Joubert’s syndrome: New cases and review of clinicopathologic correlation publication-title: Pediatr Neurol contributor: fullname: Nork – volume: 14 start-page: 583 year: 1999 end-page: 590 ident: bib7 article-title: Clinical features and revised diagnostic criteria in Joubert syndrome publication-title: J Child Neurol contributor: fullname: Tran – volume: 107 start-page: 963 year: 1995 end-page: 966 ident: bib26 article-title: Snoring, apneic episodes, and nocturnal hypoxemia among children 6 months to 6 years old: An epidemiologic study of lower limit of prevalence publication-title: Chest contributor: fullname: Benediktsdottir – volume: 11 start-page: 890 year: 2010 end-page: 896 ident: bib19 article-title: Comparative levels of excessive daytime sleepiness in common medical disorders publication-title: Sleep Med contributor: fullname: Jefferson – volume: 133 start-page: 216 year: 2007 end-page: 222 ident: bib22 article-title: Pediatric Sleep Questionnaire: Prediction of sleep apnea and outcomes publication-title: Arch Otolaryngol Head Neck contributor: fullname: Garetz – volume: 139 start-page: 165 year: 1982 end-page: 171 ident: bib29 article-title: Children and nocturnal snoring: Evaluation of the effects of sleep related respiratory resistive load and daytime functioning publication-title: Eur J Pediatr contributor: fullname: Simmons – volume: 19 start-page: 813 year: 1969 end-page: 825 ident: bib2 article-title: Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation publication-title: Neurology contributor: fullname: Andermann – volume: 1 start-page: 21 year: 2000 end-page: 32 ident: bib21 article-title: Pediatric Sleep Questionnaire (PSQ): Validity and reliability of scales for sleep-disordered breathing, snoring, sleepiness, and behavioral problems publication-title: Sleep Med contributor: fullname: Pituch – volume: 15 start-page: 511 year: 2007 end-page: 521 ident: bib1 article-title: Joubert syndrome (and related disorders) (OMIM 213300) publication-title: Eur J Hum Genet contributor: fullname: Glass – volume: 114 start-page: 768 year: 2004 end-page: 775 ident: bib20 article-title: Daytime sleepiness and hyperactivity in children with suspected sleep-disordered breathing publication-title: Pediatrics contributor: fullname: Marcus – volume: 70 start-page: 126S year: 1999 end-page: 130S ident: bib17 article-title: Defining obesity in childhood: Current practice publication-title: Am J Clin Nutr contributor: fullname: Guillaume – volume: 72 start-page: 59 year: 1997 end-page: 62 ident: bib23 article-title: Clinical and molecular analysis in Joubert syndrome publication-title: Am J Med Genet contributor: fullname: Chance – volume: 157 start-page: 911 year: 2010 end-page: 916 ident: bib30 article-title: Bias in self-reported height and weight in preadolescents publication-title: J Pediatr contributor: fullname: Claessens – volume: 70 start-page: 123S year: 1999 end-page: 125S ident: bib16 article-title: Introduction: The use of body mass index to assess obesity in children publication-title: Am J Clin Nutr contributor: fullname: Bellizzi – volume: 8 start-page: 57 year: 1977 end-page: 66 ident: bib6 article-title: Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis publication-title: Neuropadiatrie contributor: fullname: Isler – volume: 14 start-page: 368 year: 1999 end-page: 376 ident: bib4 article-title: Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance publication-title: J Child Neurol contributor: fullname: Rosainz – volume: 32 start-page: 283 year: 2000 end-page: 285 ident: bib33 article-title: Joubert syndrome: An affected female with bilateral colobomata publication-title: Pathology contributor: fullname: Jain – volume: 5 start-page: 274 year: 2008 end-page: 282 ident: bib24 article-title: Pediatric obstructive sleep apnea: Complications, management, and long-term outcomes publication-title: Proc Am Thorac Soc contributor: fullname: Gozal – volume: 31 start-page: 502 year: 1990 end-page: 506 ident: bib11 article-title: Joubert syndrome: A clinico-radiological study publication-title: Neuroradiology contributor: fullname: Finn – volume: 6 start-page: 384 year: 2010 end-page: 388 ident: bib12 article-title: Joubert syndrome associated with severe central sleep apnea publication-title: J Clin Sleep Med contributor: fullname: Mutlu – volume: 14 start-page: 655 year: 1999 end-page: 659 ident: bib9 article-title: Neuropathology of Joubert syndrome publication-title: J Child Neurol contributor: fullname: Rorke – volume: 23 start-page: 216 year: 2009 end-page: 221 ident: bib31 article-title: Do parents accurately perceive their child’s weight status? publication-title: J Pediatr Health Care contributor: fullname: Ortiz – volume: 20 start-page: 758 year: 1978 end-page: 763 ident: bib14 article-title: Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome publication-title: Dev Med Child Neurol contributor: fullname: Boltshauser – volume: 139 start-page: 715 year: 1983 ident: 10.1016/j.pediatrneurol.2011.09.005_bib13 article-title: Joubert syndrome: Clinical and anatomo-pathologic study: Etiopathogenetic hypotheses publication-title: Rev Neurol (Paris) contributor: fullname: Harmant-van – volume: 157 start-page: 911 year: 2010 ident: 10.1016/j.pediatrneurol.2011.09.005_bib30 article-title: Bias in self-reported height and weight in preadolescents publication-title: J Pediatr doi: 10.1016/j.jpeds.2010.06.038 contributor: fullname: Seghers – volume: 31 start-page: 502 year: 1990 ident: 10.1016/j.pediatrneurol.2011.09.005_bib11 article-title: Joubert syndrome: A clinico-radiological study publication-title: Neuroradiology doi: 10.1007/BF00340131 contributor: fullname: Kendall – volume: 70 start-page: 123S issue: Suppl. year: 1999 ident: 10.1016/j.pediatrneurol.2011.09.005_bib16 article-title: Introduction: The use of body mass index to assess obesity in children publication-title: Am J Clin Nutr doi: 10.1093/ajcn/70.1.123s contributor: fullname: Dietz – volume: 125A start-page: 125 year: 2004 ident: 10.1016/j.pediatrneurol.2011.09.005_bib3 article-title: Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes publication-title: Am J Med Genet [A] doi: 10.1002/ajmg.a.20437 contributor: fullname: Gleeson – volume: 21 start-page: 98 year: 2000 ident: 10.1016/j.pediatrneurol.2011.09.005_bib27 article-title: Pediatric sleep-related breathing disorders publication-title: Am J Otolaryngol doi: 10.1016/S0196-0709(00)85005-X contributor: fullname: Messner – volume: 70 start-page: 126S issue: Suppl. year: 1999 ident: 10.1016/j.pediatrneurol.2011.09.005_bib17 article-title: Defining obesity in childhood: Current practice publication-title: Am J Clin Nutr doi: 10.1093/ajcn/70.1.126s contributor: fullname: Guillaume – volume: 19 start-page: 813 year: 1969 ident: 10.1016/j.pediatrneurol.2011.09.005_bib2 article-title: Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation publication-title: Neurology doi: 10.1212/WNL.19.9.813 contributor: fullname: Joubert – volume: 32 start-page: 283 year: 2000 ident: 10.1016/j.pediatrneurol.2011.09.005_bib33 article-title: Joubert syndrome: An affected female with bilateral colobomata publication-title: Pathology doi: 10.1080/pat.32.4.283.285 contributor: fullname: Dahlstrom – volume: 1 start-page: 21 year: 2000 ident: 10.1016/j.pediatrneurol.2011.09.005_bib21 article-title: Pediatric Sleep Questionnaire (PSQ): Validity and reliability of scales for sleep-disordered breathing, snoring, sleepiness, and behavioral problems publication-title: Sleep Med doi: 10.1016/S1389-9457(99)00009-X contributor: fullname: Chervin – volume: 20 start-page: 758 year: 1978 ident: 10.1016/j.pediatrneurol.2011.09.005_bib14 article-title: Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome publication-title: Dev Med Child Neurol doi: 10.1111/j.1469-8749.1978.tb15307.x contributor: fullname: Friede – volume: 11 start-page: 890 year: 2010 ident: 10.1016/j.pediatrneurol.2011.09.005_bib19 article-title: Comparative levels of excessive daytime sleepiness in common medical disorders publication-title: Sleep Med doi: 10.1016/j.sleep.2010.04.010 contributor: fullname: Stroe – volume: 12 start-page: 423 year: 1997 ident: 10.1016/j.pediatrneurol.2011.09.005_bib5 article-title: “Joubert syndrome” revisited: Key ocular motor signs with magnetic resonance imaging correlation publication-title: J Child Neurol doi: 10.1177/088307389701200703 contributor: fullname: Maria – volume: 179 start-page: e67 year: 2008 ident: 10.1016/j.pediatrneurol.2011.09.005_bib32 article-title: An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature publication-title: Forensic Sci Int doi: 10.1016/j.forsciint.2008.06.003 contributor: fullname: Ishikawa – volume: 5 start-page: 274 year: 2008 ident: 10.1016/j.pediatrneurol.2011.09.005_bib24 article-title: Pediatric obstructive sleep apnea: Complications, management, and long-term outcomes publication-title: Proc Am Thorac Soc doi: 10.1513/pats.200708-138MG contributor: fullname: Capdevila – volume: 144 start-page: 264 year: 2004 ident: 10.1016/j.pediatrneurol.2011.09.005_bib34 article-title: Joubert-like syndrome unlinked to known candidate loci publication-title: J Pediatr doi: 10.1016/j.jpeds.2003.11.010 contributor: fullname: Janecke – volume: 107 start-page: 963 year: 1995 ident: 10.1016/j.pediatrneurol.2011.09.005_bib26 article-title: Snoring, apneic episodes, and nocturnal hypoxemia among children 6 months to 6 years old: An epidemiologic study of lower limit of prevalence publication-title: Chest doi: 10.1378/chest.107.4.963 contributor: fullname: Gislason – volume: 14 start-page: 368 year: 1999 ident: 10.1016/j.pediatrneurol.2011.09.005_bib4 article-title: Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance publication-title: J Child Neurol doi: 10.1177/088307389901400605 contributor: fullname: Maria – volume: 14 start-page: 655 year: 1999 ident: 10.1016/j.pediatrneurol.2011.09.005_bib9 article-title: Neuropathology of Joubert syndrome publication-title: J Child Neurol doi: 10.1177/088307389901401006 contributor: fullname: Yachnis – volume: 23 start-page: 216 year: 2009 ident: 10.1016/j.pediatrneurol.2011.09.005_bib31 article-title: Do parents accurately perceive their child’s weight status? publication-title: J Pediatr Health Care doi: 10.1016/j.pedhc.2007.12.014 contributor: fullname: De La – volume: 68 start-page: 360 year: 1993 ident: 10.1016/j.pediatrneurol.2011.09.005_bib25 article-title: Snoring, sleep disturbance, and behaviour in 4–5 year olds publication-title: Arch Dis Child doi: 10.1136/adc.68.3.360 contributor: fullname: Ali – volume: 20 start-page: 274 year: 1999 ident: 10.1016/j.pediatrneurol.2011.09.005_bib10 article-title: Joubert’s syndrome: New cases and review of clinicopathologic correlation publication-title: Pediatr Neurol doi: 10.1016/S0887-8994(98)00154-4 contributor: fullname: Sztriha – volume: 72 start-page: 59 year: 1997 ident: 10.1016/j.pediatrneurol.2011.09.005_bib23 article-title: Clinical and molecular analysis in Joubert syndrome publication-title: Am J Med Genet doi: 10.1002/(SICI)1096-8628(19971003)72:1<59::AID-AJMG12>3.0.CO;2-T contributor: fullname: Pellegrino – volume: 15 start-page: 511 year: 2007 ident: 10.1016/j.pediatrneurol.2011.09.005_bib1 article-title: Joubert syndrome (and related disorders) (OMIM 213300) publication-title: Eur J Hum Genet doi: 10.1038/sj.ejhg.5201648 contributor: fullname: Parisi – volume: 4 start-page: 119 year: 1983 ident: 10.1016/j.pediatrneurol.2011.09.005_bib28 article-title: Signs of airway obstruction during sleep and behavioral, developmental, and academic problems publication-title: J Dev Behav Pediatr doi: 10.1097/00004703-198306000-00008 contributor: fullname: Weissbluth – volume: 139 start-page: 165 year: 1982 ident: 10.1016/j.pediatrneurol.2011.09.005_bib29 article-title: Children and nocturnal snoring: Evaluation of the effects of sleep related respiratory resistive load and daytime functioning publication-title: Eur J Pediatr doi: 10.1007/BF01377349 contributor: fullname: Guilleminault – volume: 11 start-page: 1 year: 2002 ident: 10.1016/j.pediatrneurol.2011.09.005_bib15 article-title: 2000 CDC growth charts for the United States: Methods and development publication-title: Vital Health Stat contributor: fullname: Kuczmarski – volume: 114 start-page: 768 year: 2004 ident: 10.1016/j.pediatrneurol.2011.09.005_bib20 article-title: Daytime sleepiness and hyperactivity in children with suspected sleep-disordered breathing publication-title: Pediatrics doi: 10.1542/peds.2004-0730 contributor: fullname: Melendres – volume: 14 start-page: 583 year: 1999 ident: 10.1016/j.pediatrneurol.2011.09.005_bib7 article-title: Clinical features and revised diagnostic criteria in Joubert syndrome publication-title: J Child Neurol doi: 10.1177/088307389901400906 contributor: fullname: Maria – volume: 8 start-page: 57 year: 1977 ident: 10.1016/j.pediatrneurol.2011.09.005_bib6 article-title: Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis publication-title: Neuropadiatrie doi: 10.1055/s-0028-1091505 contributor: fullname: Boltshauser – volume: 133 start-page: 216 year: 2007 ident: 10.1016/j.pediatrneurol.2011.09.005_bib22 article-title: Pediatric Sleep Questionnaire: Prediction of sleep apnea and outcomes publication-title: Arch Otolaryngol Head Neck doi: 10.1001/archotol.133.3.216 contributor: fullname: Chervin – volume: 151C start-page: 326 year: 2009 ident: 10.1016/j.pediatrneurol.2011.09.005_bib8 article-title: Clinical and molecular features of Joubert syndrome and related disorders publication-title: Am J Med Genet [C] doi: 10.1002/ajmg.c.30229 contributor: fullname: Parisi – volume: 6 start-page: 384 year: 2010 ident: 10.1016/j.pediatrneurol.2011.09.005_bib12 article-title: Joubert syndrome associated with severe central sleep apnea publication-title: J Clin Sleep Med doi: 10.5664/jcsm.27882 contributor: fullname: Wolfe – volume: 14 start-page: 540 year: 1991 ident: 10.1016/j.pediatrneurol.2011.09.005_bib18 article-title: A new method for measuring daytime sleepiness: The Epworth Sleepiness Scale publication-title: Sleep doi: 10.1093/sleep/14.6.540 contributor: fullname: Johns |
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Snippet | Abstract Joubert syndrome is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and... Joubert syndrome is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and respiratory... |
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SubjectTerms | Abnormalities, Multiple Adolescent Biological and medical sciences Cerebellar Diseases - complications Cerebellum - abnormalities Child Child, Preschool Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes Eye Abnormalities - complications Female Humans Kidney Diseases, Cystic - complications Male Medical sciences Nervous system (semeiology, syndromes) Neurology Pediatrics Respiration Disorders - etiology Retina - abnormalities Self Report Sleep Wake Disorders - etiology Surveys and Questionnaires |
Title | Self-Reported Sleep and Breathing Disturbances in Joubert Syndrome |
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