Investigating the Experience of Living With Down Syndrome and Obstructive Sleep Apnea Syndrome (Stage 1)

NCT04124471 | Completed Results

• 2 other identifiers: 19-016222R61HL151253-01
• Study Type: interventional
• Target: 42
• Locations: 1 country
• Sites: 1

Brief Summary

To identify the perceptions, beliefs, and family-relevant outcomes regarding the treatment of obstructive sleep apnea syndrome (OSAS) with positive airway pressure (PAP) in children with Down's Syndrome (DS).

Conditions

Down Syndrome; Obstructive Sleep Apnea

Keywords

Down Syndrome; Obstructive Sleep Apnea

Outcome Measures

Primary Outcomes (1)

• Number of Participants Who Completed Interviews Regarding Positive Airway Pressure (PAP) Acceptability

  PAP feasibility will be measured by completion of semi-structured interviews to explore attitudes about PAP therapy in youth with Down Syndrome and Obstructive Sleep Apnea Syndrome.

  one day

Study Arms (1)

Participants treated with PAP

OTHER

This is a qualitative study for participants with Down Syndrome who use PAP to treat obstructive sleep apnea syndrome.

Behavioral: Open-ended semi-structured interviews

Interventions

Open-ended semi-structured interviews BEHAVIORAL

Semi-structured interviews will explore such key constructs as knowledge/belief about OSAS and PAP therapy, routines and resources that promote or limit PAP use, barriers, self-efficacy, and communication and attitudes about PAP. The interviews will be performed with the parent and that they will be audio-recorded.

Participants treated with PAP

Eligibility Criteria

• Age: 6 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Children with DS and OSAS treated with PAP for at least 6 months
• Children aged between 6 and 17.5 years
• English proficiency
• Parent or legal guardian of an eligible patient subject
• English proficiency
• Must live with the patient subject at least 4 nights of the week

You may not qualify if:

• In foster care
• Diagnosed with major illness, such as leukemia or severe cyanotic congenital heart disease listed for cardiac transplant as these severe diseases may add confounders
• Foster parent

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead
• National Institutes of Health (NIH): collaborator
• National Heart, Lung, and Blood Institute (NHLBI): collaborator
• University of Pennsylvania: collaborator
• Children's Hospital Medical Center, Cincinnati: collaborator

Study Sites (1)

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Related Publications (40)

• Presson AP, Partyka G, Jensen KM, Devine OJ, Rasmussen SA, McCabe LL, McCabe ER. Current estimate of Down Syndrome population prevalence in the United States. J Pediatr. 2013 Oct;163(4):1163-8. doi: 10.1016/j.jpeds.2013.06.013. Epub 2013 Jul 23.

  PMID: 23885965 BACKGROUND

• Mai CT, Kucik JE, Isenburg J, Feldkamp ML, Marengo LK, Bugenske EM, Thorpe PG, Jackson JM, Correa A, Rickard R, Alverson CJ, Kirby RS; National Birth Defects Prevention Network. Selected birth defects data from population-based birth defects surveillance programs in the United States, 2006 to 2010: featuring trisomy conditions. Birth Defects Res A Clin Mol Teratol. 2013 Nov;97(11):709-25. doi: 10.1002/bdra.23198. No abstract available.

  PMID: 24265125 BACKGROUND

• de Graaf G, Buckley F, Skotko BG. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet A. 2015 Apr;167A(4):756-67. doi: 10.1002/ajmg.a.37001.

  PMID: 25822844 BACKGROUND

• Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7. doi: 10.1002/mrdd.20157.

  PMID: 17910090 BACKGROUND

• Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011 Aug;128(2):393-406. doi: 10.1542/peds.2011-1605. Epub 2011 Jul 25.

  PMID: 21788214 BACKGROUND

• Marcus CL, Carroll JL, Koerner CB, Hamer A, Lutz J, Loughlin GM. Determinants of growth in children with the obstructive sleep apnea syndrome. J Pediatr. 1994 Oct;125(4):556-62. doi: 10.1016/s0022-3476(94)70007-9.

  PMID: 7931873 BACKGROUND

• Marcus CL, Greene MG, Carroll JL. Blood pressure in children with obstructive sleep apnea. Am J Respir Crit Care Med. 1998 Apr;157(4 Pt 1):1098-103. doi: 10.1164/ajrccm.157.4.9704080.

  PMID: 9563725 BACKGROUND

• Amin RS, Kimball TR, Bean JA, Jeffries JL, Willging JP, Cotton RT, Witt SA, Glascock BJ, Daniels SR. Left ventricular hypertrophy and abnormal ventricular geometry in children and adolescents with obstructive sleep apnea. Am J Respir Crit Care Med. 2002 May 15;165(10):1395-9. doi: 10.1164/rccm.2105118.

  PMID: 12016102 BACKGROUND

• Amin RS, Carroll JL, Jeffries JL, Grone C, Bean JA, Chini B, Bokulic R, Daniels SR. Twenty-four-hour ambulatory blood pressure in children with sleep-disordered breathing. Am J Respir Crit Care Med. 2004 Apr 15;169(8):950-6. doi: 10.1164/rccm.200309-1305OC. Epub 2004 Feb 5.

  PMID: 14764433 BACKGROUND

• Miman MC, Kirazli T, Ozyurek R. Doppler echocardiography in adenotonsillar hypertrophy. Int J Pediatr Otorhinolaryngol. 2000 Aug 11;54(1):21-6. doi: 10.1016/s0165-5876(00)00338-4.

  PMID: 10960692 BACKGROUND

• Tal A, Leiberman A, Margulis G, Sofer S. Ventricular dysfunction in children with obstructive sleep apnea: radionuclide assessment. Pediatr Pulmonol. 1988;4(3):139-43. doi: 10.1002/ppul.1950040304.

  PMID: 2836784 BACKGROUND

• Gozal D, Kheirandish-Gozal L, Bhattacharjee R, Spruyt K. Neurocognitive and endothelial dysfunction in children with obstructive sleep apnea. Pediatrics. 2010 Nov;126(5):e1161-7. doi: 10.1542/peds.2010-0688. Epub 2010 Oct 18.

  PMID: 20956420 BACKGROUND

• Kheirandish-Gozal L, Bhattacharjee R, Kim J, Clair HB, Gozal D. Endothelial progenitor cells and vascular dysfunction in children with obstructive sleep apnea. Am J Respir Crit Care Med. 2010 Jul 1;182(1):92-7. doi: 10.1164/rccm.200912-1845OC. Epub 2010 Mar 4.

  PMID: 20203242 BACKGROUND

• Montgomery-Downs HE, Crabtree VM, Gozal D. Cognition, sleep and respiration in at-risk children treated for obstructive sleep apnoea. Eur Respir J. 2005 Feb;25(2):336-42. doi: 10.1183/09031936.05.00082904.

  PMID: 15684300 BACKGROUND

• Chervin RD, Ruzicka DL, Giordani BJ, Weatherly RA, Dillon JE, Hodges EK, Marcus CL, Guire KE. Sleep-disordered breathing, behavior, and cognition in children before and after adenotonsillectomy. Pediatrics. 2006 Apr;117(4):e769-78. doi: 10.1542/peds.2005-1837.

  PMID: 16585288 BACKGROUND

• Marcus CL, Radcliffe J, Konstantinopoulou S, Beck SE, Cornaglia MA, Traylor J, DiFeo N, Karamessinis LR, Gallagher PR, Meltzer LJ. Effects of positive airway pressure therapy on neurobehavioral outcomes in children with obstructive sleep apnea. Am J Respir Crit Care Med. 2012 May 1;185(9):998-1003. doi: 10.1164/rccm.201112-2167OC. Epub 2012 Feb 9.

  PMID: 22323303 BACKGROUND

• O'Brien LM, Mervis CB, Holbrook CR, Bruner JL, Smith NH, McNally N, McClimment MC, Gozal D. Neurobehavioral correlates of sleep-disordered breathing in children. J Sleep Res. 2004 Jun;13(2):165-72. doi: 10.1111/j.1365-2869.2004.00395.x.

  PMID: 15175097 BACKGROUND

• Gozal D. Sleep-disordered breathing and school performance in children. Pediatrics. 1998 Sep;102(3 Pt 1):616-20. doi: 10.1542/peds.102.3.616.

  PMID: 9738185 BACKGROUND

• Marcus CL, Moore RH, Rosen CL, Giordani B, Garetz SL, Taylor HG, Mitchell RB, Amin R, Katz ES, Arens R, Paruthi S, Muzumdar H, Gozal D, Thomas NH, Ware J, Beebe D, Snyder K, Elden L, Sprecher RC, Willging P, Jones D, Bent JP, Hoban T, Chervin RD, Ellenberg SS, Redline S; Childhood Adenotonsillectomy Trial (CHAT). A randomized trial of adenotonsillectomy for childhood sleep apnea. N Engl J Med. 2013 Jun 20;368(25):2366-76. doi: 10.1056/NEJMoa1215881. Epub 2013 May 21.

  PMID: 23692173 BACKGROUND

• Glasson EJ, Jacques A, Wong K, Bourke J, Leonard H. Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent Decades. J Pediatr. 2016 Feb;169:214-20.e1. doi: 10.1016/j.jpeds.2015.10.083. Epub 2015 Dec 2.

  PMID: 26651430 BACKGROUND

• Kucik JE, Shin M, Siffel C, Marengo L, Correa A; Congenital Anomaly Multistate Prevalence and Survival Collaborative. Trends in survival among children with Down syndrome in 10 regions of the United States. Pediatrics. 2013 Jan;131(1):e27-36. doi: 10.1542/peds.2012-1616. Epub 2012 Dec 17.

  PMID: 23248222 BACKGROUND

• Rajagopal KR, Abbrecht PH, Derderian SS, Pickett C, Hofeldt F, Tellis CJ, Zwillich CW. Obstructive sleep apnea in hypothyroidism. Ann Intern Med. 1984 Oct;101(4):491-4. doi: 10.7326/0003-4819-101-4-491.

  PMID: 6476635 BACKGROUND

• Stebbens VA, Dennis J, Samuels MP, Croft CB, Southall DP. Sleep related upper airway obstruction in a cohort with Down's syndrome. Arch Dis Child. 1991 Nov;66(11):1333-8. doi: 10.1136/adc.66.11.1333.

  PMID: 1836718 BACKGROUND

• Marcus CL, Keens TG, Bautista DB, von Pechmann WS, Ward SL. Obstructive sleep apnea in children with Down syndrome. Pediatrics. 1991 Jul;88(1):132-9.

  PMID: 1829151 BACKGROUND

• de Miguel-Diez J, Villa-Asensi JR, Alvarez-Sala JL. Prevalence of sleep-disordered breathing in children with Down syndrome: polygraphic findings in 108 children. Sleep. 2003 Dec 15;26(8):1006-9. doi: 10.1093/sleep/26.8.1006.

  PMID: 14746382 BACKGROUND

• Redline S, Tishler PV, Schluchter M, Aylor J, Clark K, Graham G. Risk factors for sleep-disordered breathing in children. Associations with obesity, race, and respiratory problems. Am J Respir Crit Care Med. 1999 May;159(5 Pt 1):1527-32. doi: 10.1164/ajrccm.159.5.9809079.

  PMID: 10228121 BACKGROUND

• Marcus CL, Brooks LJ, Draper KA, Gozal D, Halbower AC, Jones J, Schechter MS, Ward SD, Sheldon SH, Shiffman RN, Lehmann C, Spruyt K; American Academy of Pediatrics. Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics. 2012 Sep;130(3):e714-55. doi: 10.1542/peds.2012-1672. Epub 2012 Aug 27.

  PMID: 22926176 BACKGROUND

• Farhood Z, Isley JW, Ong AA, Nguyen SA, Camilon TJ, LaRosa AC, White DR. Adenotonsillectomy outcomes in patients with Down syndrome and obstructive sleep apnea. Laryngoscope. 2017 Jun;127(6):1465-1470. doi: 10.1002/lary.26398. Epub 2017 Jan 5.

  PMID: 28055122 BACKGROUND

• Hawkins SM, Jensen EL, Simon SL, Friedman NR. Correlates of Pediatric CPAP Adherence. J Clin Sleep Med. 2016 Jun 15;12(6):879-84. doi: 10.5664/jcsm.5892.

  PMID: 27092702 BACKGROUND

• Marcus CL, Brooks LJ, Draper KA, Gozal D, Halbower AC, Jones J, Schechter MS, Sheldon SH, Spruyt K, Ward SD, Lehmann C, Shiffman RN; American Academy of Pediatrics. Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics. 2012 Sep;130(3):576-84. doi: 10.1542/peds.2012-1671. Epub 2012 Aug 27.

  PMID: 22926173 BACKGROUND

• Marcus CL, Beck SE, Traylor J, Cornaglia MA, Meltzer LJ, DiFeo N, Karamessinis LR, Samuel J, Falvo J, DiMaria M, Gallagher PR, Beris H, Menello MK. Randomized, double-blind clinical trial of two different modes of positive airway pressure therapy on adherence and efficacy in children. J Clin Sleep Med. 2012 Feb 15;8(1):37-42. doi: 10.5664/jcsm.1656.

  PMID: 22334807 BACKGROUND

• Strydom A, Coppus A, Blesa R, Danek A, Fortea J, Hardy J, Levin J, Nuebling G, Rebillat AS, Ritchie C, van Duijn C, Zaman S, Zetterberg H. Alzheimer's disease in Down syndrome: An overlooked population for prevention trials. Alzheimers Dement (N Y). 2018 Dec 13;4:703-713. doi: 10.1016/j.trci.2018.10.006. eCollection 2018.

  PMID: 30581976 BACKGROUND

• Sawyer AM, Gooneratne NS, Marcus CL, Ofer D, Richards KC, Weaver TE. A systematic review of CPAP adherence across age groups: clinical and empiric insights for developing CPAP adherence interventions. Sleep Med Rev. 2011 Dec;15(6):343-56. doi: 10.1016/j.smrv.2011.01.003. Epub 2011 Jun 8.

  PMID: 21652236 BACKGROUND

• O'Donnell AR, Bjornson CL, Bohn SG, Kirk VG. Compliance rates in children using noninvasive continuous positive airway pressure. Sleep. 2006 May;29(5):651-8.

  PMID: 16774155 BACKGROUND

• Castro-Codesal ML, Dehaan K, Featherstone R, Bedi PK, Martinez Carrasco C, Katz SL, Chan EY, Bendiak GN, Almeida FR, Olmstead DL, Young R, Woolf V, Waters KA, Sullivan C, Hartling L, MacLean JE. Long-term non-invasive ventilation therapies in children: A scoping review. Sleep Med Rev. 2018 Feb;37:148-158. doi: 10.1016/j.smrv.2017.02.005. Epub 2017 Mar 2.

  PMID: 28410811 BACKGROUND

• Nixon GM, Mihai R, Verginis N, Davey MJ. Patterns of continuous positive airway pressure adherence during the first 3 months of treatment in children. J Pediatr. 2011 Nov;159(5):802-7. doi: 10.1016/j.jpeds.2011.04.013. Epub 2011 May 20.

  PMID: 21601219 BACKGROUND

• Marcus CL, Ward SL, Mallory GB, Rosen CL, Beckerman RC, Weese-Mayer DE, Brouillette RT, Trang HT, Brooks LJ. Use of nasal continuous positive airway pressure as treatment of childhood obstructive sleep apnea. J Pediatr. 1995 Jul;127(1):88-94. doi: 10.1016/s0022-3476(95)70262-8.

  PMID: 7608817 BACKGROUND

• Kang EK, Xanthopoulos MS, Kim JY, Arevalo C, Shults J, Beck SE, Marcus CL, Tapia IE. Adherence to Positive Airway Pressure for the Treatment of Obstructive Sleep Apnea in Children With Developmental Disabilities. J Clin Sleep Med. 2019 Jun 15;15(6):915-921. doi: 10.5664/jcsm.7850.

  PMID: 31138379 BACKGROUND

• Boeije H. A purposeful approach to the constant comparative method in the analysis of qualitative interviews. Quality and Quantity. 2002;36:391-409

  BACKGROUND

• Xanthopoulos MS, Nelson MN, Eriksen W, Barg FK, Byars KC, Ishman SL, Esbensen AJ, Meinzen-Derr J, Heubi CH, Gurbani NS, Bradford R, Hicks S, Tapia IE. Caregiver experiences helping children with Down syndrome use positive airway pressure to treat obstructive sleep apnea. Sleep Med. 2023 Jul;107:179-186. doi: 10.1016/j.sleep.2023.04.022. Epub 2023 Apr 28.

  PMID: 37196396 DERIVED

MeSH Terms

Conditions

Down Syndrome; Sleep Apnea, Obstructive

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Sleep Apnea Syndromes; Apnea; Respiration Disorders; Respiratory Tract Diseases; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders

Results Point of Contact

• Title: Ignacio Tapia, MD
• Organization: Children's Hospital of Philadelphia

tapia@chop.edu

(267) 426-5842

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SUPPORTIVE CARE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 4, 2019
• First Posted: October 11, 2019
• Study Start: August 2, 2019
• Primary Completion: January 1, 2022
• Study Completion: August 1, 2022
• Last Updated: April 25, 2023
• Results First Posted: April 25, 2023

Record last verified: 2023-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)