van Casteren PHFM, de Graaf G, Buckley F, Skotko BG. Countrywide Variables Associated With the Reduction of Fetuses With Down Syndrome. Am J Med Genet A. 2025 Aug 21:e64228. doi: 10.1002/ajmg.a.64228. Epub ahead of print. PMID: 40836709
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Fact sheet
Santoro SL, Spognardi AG, Bregman C, Cottrell C, Oey E, Pulsifer M, Skotko BG, Torres A, Oreskovic NM. Use of a Screening Tool for Dementia in a Down Syndrome Specialty Clinic. Am J Med Genet A. 2025 Sep 9:e64251. doi: 10.1002/ajmg.a.64251. Epub ahead of print. PMID: 40923238.
Article
Kim M, Xu LJ, Shih E, Gipson KS, Skotko BG, Scheffler P, Hartnick CJ. Hypoglossal nerve stimulator for obstructive sleep apnea in children with down syndrome younger than 13. Int J Pediatr Otorhinolaryngol. 2025 Sep;196:112497. doi: 10.1016/j.ijporl.2025.112497. Epub 2025 Jul 23. PMID: 40714532.
Article
Treptow RL, Browne JV, Feder J, Glovinsky I, Skotko BG. Exploring Pediatricians' Implicit Bias Related to Newborns' Intellectual Disability Risk: Merged Vignette and Implicit Association Test (IAT) Results. Am J Med Genet A. 2025 Nov;197(11):e64166. doi: 10.1002/ajmg.a.64166. Epub 2025 Jul 8. PMID: 40626714.
Article
Oreskovic NM, Austin G, Aylward B, Boer P, Bricout VA, Cheema N, Das A, Fernhall B, Fleming R, Florez C, Gordon D, Spognardi AG, Hilgenkamp T, Hillerstromm H, Joyce CT, Keiller D, Kelly L, Komyerov J, Lincoln AE, Mann S, Murray L, Pickard K, Ptomey LT, Reid KF, Reilly M, Rhondeau M, Santoro SL, Stanish H, Tam J, Torres A, Skotko BG. The International Summit on Health Benefits of Physical Fitness for People With Down Syndrome: Current Science, Gaps, Priorities, and Research Opportunities. Am J Med Genet A. 2025 Sep 21:e64256. doi: 10.1002/ajmg.a.64256. Epub ahead of print. PMID: 40977151.
Article
de Graaf G, Skotko BG. Parents' Experiences of Diagnosis and Screening for Down Syndrome in The Netherlands. Am J Med Genet A. 2025 Sep 19:e64250. doi: 10.1002/ajmg.a.64250. Epub ahead of print. PMID: 40973629.
Article
Shaffer M, Co JPT, Donelan K, Skotko BG, Torres A, Winickoff JP, Santoro SL (2025). Successful (and Unsuccessful) Recruitment Approaches and Participant Loss in a Down Syndrome Survey. Am J Intellect Dev Disabil, 130(2):131-145. PMID: 39999870.
Article
Oreskovic NM, Harisinghani A, Bregman C, Cottrell C, Pulsifer M, Skotko BG, Torres A, Spognardi AG, Santoro SL (2025). Use of the Adaptive Behaviour Dementia Questionnaire in a Down Syndrome Specialty Clinic. J Integr Neurosci. Jan 21;24(1):25713. PMID: 39862013
Article
Huyett P, Santoro SL, Oreskovic NM, Skotko BG (2025). Adults with Down syndrome and obstructive sleep apnea treated with hypoglossal nerve stimulation. J Clin Sleep Med. Apr 1;21(4):619-625. PMID: 39492571; PMCID: PMC11965105
Article
Jensen K, Llamas P, Howard J, Berger H, Skotko BG (2025). Specialty Care Oases: Utilizing Geographic Information Systems to Evaluate Specialty Care Access for Individuals With Down Syndrome. Am J Med Genet A. May;197(5):e63977. Epub 2024 Dec 30. PMID: 39739375
Article
Artal JM, Randall L, Rubeck S, Allyse M, Michie M, Riggan KA, Meredith S, Skotko BG (2024). Parents of children with Down syndrome reflect on their postnatal diagnoses, 2003-2022. Am J Med Genet A. Aug;194(8):e63619. Epub 2024 Apr 15. PMID: 38619097
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Article (in Spanish)
Artal JM, Randall L, Rubeck S, Allyse M, Michie M, Riggan KA, Meredith S, Skotko BG (2025). Prenatal Care of Parents Who Continued Pregnancies With Down Syndrome, 2003-2022. Am J Med Genet A. May;197(5):e63981. Epub 2025 Jan 19. PMID: 39829122
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Article (in Spanish)
Santoro SL, Harisinghani A, Bregman C, Cottrell C, Pulsifer MB, Shaffer M, Torres A, Skotko BG, Oreskovic NM. Implementing a Quality Improvement Initiative to Screen for Dementia in a Down Syndrome Specialty Clinic. Am J Med Genet A. 2024 Nov 28:e63948. doi: 10.1002/ajmg.a.63948. Epub ahead of print. PMID: 39607288.
Article
Larrow DR, Marcus KS, Gipson K, Skotko BG, Baldassari CM, Smith DF, Heubi CH, Tobey A, Nikhila R, Vangel M, Hartnick CJ. Upper Airway Stimulation for Children and Adolescents with Down Syndrome: Long-Term Follow-Up. Laryngoscope. 2024 Oct 9. doi: 10.1002/lary.31828. Epub ahead of print. PMID: 39381939.
Article
Bartels S, Levison JH, Trieu HD, Wilson A, Krane D, Cheng D, Xie H, Donelan K, Bird B, Shellenberger K, Cella E, Oreskovic NM, Irwin K, Aschbrenner K, Fathi A, Gamse S, Holland S, Wolfe J, Chau C, Adejinmi A, Langlois J, Reichman JL, Iezzoni LI, Skotko BG. Tailored vs. General COVID-19 prevention for adults with mental disabilities residing in group homes: a randomized controlled effectiveness-implementation trial. BMC Public Health. 2024 Jun 26;24(1):1705. doi: 10.1186/s12889-024-18835-w. PMID: 38926810; PMCID: PMC11201789.
Article
Rubenstein E, Tewolde S, Skotko BG, Michals A, Fortea J. Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019. Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32097. doi: 10.1002/ajmg.c.32097. Epub 2024 Jun 25. PMID: 38925597.
Article
Becker JE, Shebl FM, Losina E, Wilson A, Levison JH, Donelan K, Fung V, Trieu H, Panella C, Qian Y, Kazemian P, Bird B, Skotko BG, Bartels S, Freedberg KA. Using simulation modeling to inform intervention and implementation selection in a rapid stakeholder-engaged hybrid effectiveness-implementation randomized trial. Implement Sci Commun. 2024 Jun 24;5(1):70. doi: 10.1186/s43058-024-00593-w. PMID: 38915130; PMCID: PMC11194878.
Article
Vieira WF, Coelho DRA, Gersten M, Puerto AMH, Kalli S, Gonzalez-Garibay G, McEachern K, Clancy JA, Skotko BG, Abbeduto L, et al. (2024). TransPhoM-DS Study Grant Report: Rationale and Protocol for Investigating the Efficacy of Low-Power Transcranial Photobiomodulation on Language, Executive Function, Attention, and Memory in Down Syndrome. Photonics. 2024; 11(7):670
Article
Rubenstein E, Tewolde S, Michals A, Weuve J, Fortea J, Fox MP, Pescador Jimenez M, Scott A, Tripodis Y, Skotko BG. Alzheimer Dementia Among Individuals With Down Syndrome. JAMA Netw Open. 2024 Sep 3;7(9):e2435018. doi: 10.1001/jamanetworkopen.2024.35018. PMID: 39312235; PMCID: PMC11420697.
Article
Wasserman I, Chieffe DJ, Gipson KS, Skotko BG, Hartnick CJ. Hypoglossal Nerve Stimulation for Obstructive Sleep Apnea in a Young Child With Down Syndrome. Pediatrics. 2024 Apr 11:e2023063330. doi: 10.1542/peds.2023-063330. Epub ahead of print. PMID: 38602032.
Article
Kats DJ, Donelan K, Banerjee S, de Graaf G, Skladzien E, Hooper BT, Mordi R, Mykhailenko T, Buckley F, Santoro SL, Patsiogiannis V, Krell K, Haugen K, Skotko BG. Results of inaugural international Down Syndrome Societal Services and Supports survey. Genet Med. 2024 Mar 19:101114. doi: 10.1016/j.gim.2024.101114. Epub ahead of print. PMID: 38512346.
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Webpage ,
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Rubenstein E, Tewolde S, Levine AA, Droscha L, Meyer RM, Michals A, Skotko B. Medicare, Medicaid, and dual enrollment for adults with intellectual and developmental disabilities. Health Serv Res. 2024 Jan 24. doi: 10.1111/1475-6773.14287. Epub ahead of print. PMID: 38264862.
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Fact sheet
Wilmot HC, de Graaf G, van Casteren P, Buckley F, Skotko BG. Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990-2021. Eur J Hum Genet. 2023 May;31(5):497-503. doi: 10.1038/s41431-023-01330-y. Epub 2023 Mar 16. PMID: 36922634; PMCID: PMC10172164.
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Berger H, Wittman J, Smith K, Horick N, Norris K, Young A, Magana Gomez J, Ocampo KKE, Skotko BG. Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome. Am J Med Genet C Semin Med Genet. 2023 Nov 9:e32074. doi: 10.1002/ajmg.c.32074. Epub ahead of print. PMID: 37946659.
Article
Harisinghani A, Dhand A, Steffensen EH, Skotko BG. Sustainability of personal social networks of people with Down syndrome. Am J Med Genet C Semin Med Genet. 2023 Sep 22:e32064. doi: 10.1002/ajmg.c.32064. Epub ahead of print. PMID: 37740458.
Article
Chung J, Krell K, Pless A Jr, Michael C, Torres A, Baker S, Blake JM, Caughman K, Cullen S, Gallagher M, Hoke-Chandler R, Maina J, McLuckie D, O'Neill K, Peña A, Royal D, Slape M, Spinazzi NA, Torres CG, Skotko BG. Healthcare experiences of patients with Down syndrome from primarily Spanish-speaking households. Am J Med Genet A. 2023 Aug;191(8):2132-2141. doi: 10.1002/ajmg.a.63250. Epub 2023 Jun 20. PMID: 37338115; PMCID: PMC10524629.
Article
Supplement
Santoro SL, Baker S, Blake JM, Cabrera MJ, Caughman K, Chung J, Cullen S, Gallagher M, Haugen K, Hoke-Chandler R, Krell K, Maina J, McLuckie D, Merker VL, Michael C, O'Neill K, Peña A, Pless A Jr, Royal D, Slape M, Spinazzi NA, Torres A, Torres CG, Skotko BG. Views on the impact of the COVID-19 pandemic on health in people with Down syndrome from diverse backgrounds. Am J Med Genet A. 2023 Aug;191(8):2045-2056. doi: 10.1002/ajmg.a.63233. Epub 2023 Jun 2. PMID: 37264986; PMCID: PMC10524618.
Article
Santoro SL, Baloh CH, Hart SJ, Horick N, Kishnani PS, Krell K, Oreskovic NM, Shaffer M, Talib N, Torres A, Spiridigliozzi GA, Skotko BG. Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics. Am J Med Genet C Semin Med Genet. 2023 Dec;193(4):e32070. doi: 10.1002/ajmg.c.32070. Epub 2023 Oct 20. PMID: 37864360.
Article
Donelan K, Wolfe J, Wilson A, Michael C, Chau C, Krane D, Silverman P, Becker JE, Cheng D, Cella E, Bird B, Levison JH, Skotko BG, Bartels SJ. Group Home Staff Experiences With Work and Health in the COVID-19 Pandemic in Massachusetts. JAMA Health Forum. 2023 Apr 7;4(4):e230445. doi: 10.1001/jamahealthforum.2023.0445. PMID: 37027164; PMCID: PMC10082407.
Article
Oreskovic NM, Donelan K, Bartels SJ, Chau C, Irwin KE, Krane D, Levison JH, Michael C, Trieu H, Skotko BG. The house is a machine for everything: the role of the built environment in group homes during the COVID-19 pandemic. Public Health. 2023 Sep 9;224:20-25. doi: 10.1016/j.puhe.2023.08.012. Epub ahead of print. PMID: 37696198.
Article
Levison JH, Krane D, Donelan K, Aschbrenner K, Trieu HD, Chau C, Wilson A, Oreskovic NM, Irwin K, Iezzoni LI, Xie H, Samuels R, Silverman P, Batson J, Fathi A, Gamse S, Holland S, Wolfe J, Shellenberger K, Cella E, Bird B, Skotko BG, Bartels S. Best practices to reduce COVID-19 in group homes for individuals with serious mental illness and intellectual and developmental disabilities: Protocol for a hybrid type 1 effectiveness-implementation cluster randomized trial. Contemp Clin Trials. 2023 Feb;125:107053. doi: 10.1016/j.cct.2022.107053. Epub 2022 Dec 17. PMID: 36539061; PMCID: PMC9758744.
Article
Rubenstein E, Michals A, Wang N, Scott A, Tewolde S, Levine AA, Tripodis Y, Skotko BG. Medicaid Enrollment and Service Use Among Adults With Down Syndrome. JAMA Health Forum. 2023 Aug 4;4(8):e232320. doi: 10.1001/jamahealthforum.2023.2320. PMID: 37566429; PMCID: PMC10422190.
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Fact Sheet
Kitano R, Madan N, Mikami T, Madankumar R, Skotko BG, Santoro S, Ralston SJ, Bianchi DW, Tarui T. Biometric magnetic resonance imaging analysis of fetal brain development in Down syndrome. Prenat Diagn. 2023 Oct;43(11):1450-1458. doi: 10.1002/pd.6436. Epub 2023 Sep 12. PMID: 37698481.
Article
Santoro SL, Cabrera MJ, Co JPT, Constantine M, Haugen K, Krell K, Skotko BG, Winickoff JP, Donelan K. Health in Down syndrome: creating a conceptual model. J Intellect Disabil Res. 2023 Apr;67(4):323-351. doi: 10.1111/jir.13007. Epub 2023 Jan 17. PMID: 36650105; PMCID: PMC9992291.
Article
Kats DJ, Skotko BG, de Graaf G, Skladzien E, Hooper BT, Mordi R, Mykhailenko T, Buckley F, Patsiogiannis V, Krell K, Haugen K, Donelan K. Designing an international survey for organisations serving people with Down syndrome. J Appl Res Intellect Disabil. 2023 May;36(3):497-506. doi: 10.1111/jar.13071. Epub 2023 Jan 19. PMID: 36655393.
Article
Meredith S, Brackett S, Diaz KM, Freeman KG, Huggins E, Khan H, Leach MW, Levitz M, Michie M, Onufer J, Skotko BG, Smith L, Nicole White A, Waller T, Ayers K; Prenatal Subcommittee of the Center for Dignity in Healthcare for People with Disabilities. Recommendations to improve the patient experience and avoid bias when prenatal screening/testing. Disabil Health J. 2023 Apr;16(2):101401. doi: 10.1016/j.dhjo.2022.101401. Epub 2022 Nov 5. PMID: 36463093.
Article
Santoro JD, Patel L, Kammeyer R, Filipink RA, Gombolay GY, Cardinale KM, Real de Asua D, Zaman S, Santoro SL, Marzouk SM, Khoshnood M, Vogel BN, Tanna R, Pagarkar D, Dhanani S, Ortega MDC, Partridge R, Stanley MA, Sanders JS, Christy A, Sannar EM, Brown R, McCormick AA, Van Mater H, Franklin C, Worley G, Quinn EA, Capone GT, Chicoine B, Skotko BG, Rafii MS. Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus. Front Neurol. 2022 Jul 15;13:940175. doi: 10.3389/fneur.2022.940175. PMID: 35911905; PMCID: PMC9335003.
Article
Oreskovic NM, Baumer NT, Di Camillo C, Cornachia M, Franklin C, Hart SJ, Kishnani PS, McCormick A, Milliken AL, Patsiogiannis V, Pawlowski KG, Santoro SL, Sargado S, Scoppola V, Torres A, Valentini D, Vellody K, Villani A, Skotko BG. Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome. Am J Med Genet A. 2023 Mar;191(3):813-822. doi: 10.1002/ajmg.a.63088. Epub 2022 Dec 20. PMID: 36538912.
Article
Krell K, Pless A Jr, Michael C, Torres A, Chung J, Baker S, Blake JM, Caughman K, Cullen S, Gallagher M, Hoke-Chandler R, Maina J, McLuckie D, O'Neill K, Peña A, Royal D, Slape M, Spinazzi NA, Torres CG, Skotko BG. Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race. Am J Med Genet A. 2023 Mar;191(3):742-752. doi: 10.1002/ajmg.a.63069. Epub 2022 Dec 9. PMID: 36493376; PMCID: PMC9928895.
Article
PubMed Central (free article)
Skotko BG, Krell K, Haugen K, Torres A, Nieves A, Dhand A. Personal social networks of people with Down syndrome. Am J Med Genet A. 2023 Mar;191(3):690-698. doi: 10.1002/ajmg.a.63059. Epub 2022 Nov 27. PMID: 36437642.
Article
Skotko BG, Garza Flores A, Elsharkawi I, Patsiogiannis V, McDonough ME, Verda D, Muselli M, Hornero R, Gozal D, Macklin EA. Validation of a predictive model for obstructive sleep apnea in people with Down syndrome. Am J Med Genet A. 2023 Feb;191(2):518-525. doi: 10.1002/ajmg.a.63055. Epub 2022 Nov 25. PMID: 36426646; PMCID: PMC9988250.
Article
de Graaf G, Skladzien E, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in Australia and New Zealand. Genet Med. 2022 Dec;24(12):2568-2577. PMID: 36194210.
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Fact Sheet for New Zealand
Rafii MS, Sol O, Mobley WC, Delpretti S, Skotko BG, Burke AD, Sabbagh MN, Yuan SH, Rissman RA, Pulsifer M, Evans C, Evans AC, Beth G, Fournier N, Gray JA, Dos Santos AM, Hliva V, Vukicevic M, Kosco-Vilbois M, Streffer J, Pfeifer A, Feldman HH. (2022). Safety, Tolerability, and Immunogenicity of the ACI-24 Vaccine in Adults With Down Syndrome: A Phase 1b Randomized Clinical Trial. JAMA Neurol. 79(6):565-574.
Article
Yu PK, Stenerson M, Ishman SL, Shott SR, Raol N, Soose RJ, Tobey A, Baldassari C, Dedhia RC, Pulsifer MB, Grieco JA, Abbeduto LJ, Kinane TB, Keamy DG Jr, Skotko BG, Hartnick CJ. (2022). Evaluation of Upper Airway Stimulation for Adolescents With Down Syndrome and Obstructive Sleep Apnea. JAMA Otolaryngol Head Neck Surg. 148(6):522-528.
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Goeldner C, Kishnani PS, Skotko BG, Casero JL, Hipp JF, Derks M, Hernandez MC, Khwaja O, Lennon-Chrimes S, Noeldeke J, Pellicer S, Squassante L, Visootsak J, Wandel C, Fontoura P, d'Ardhuy XL; Clematis Study Group (2022). A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome. J Neurodev Disord. 14(1):10.
Article
Oreskovic NM, Agiovlasitis S, Patsiogiannis V, Santoro SL, Nichols D, Skotko BG (2022). Brief report: Caregiver perceived physical activity preferences of adults with Down syndrome. J Appl Res Intellect Disabil. Epub ahead of print, PMID: 35106891.
Article
Skotko BG. (2021). Can a Christ child have Down syndrome? Am J Med Genet C Semin Med Genet, 187(2), 213–215.
Article
Blake JM, Estrada Gomez D, Skotko BG, Torres A, Santoro SL. (2021). Pneumonia and respiratory infection in Down syndrome: A 10-year cohort analysis of inpatient and outpatient encounters across the lifespan. Am J Med Genet A, 185(10):2878-2887.
Article
Hendrix JA, Airey DC, Britton A, Burke AD, Capone GT, Chavez R, Chen J, Chicoine B, Costa ACS, Dage JL, Doran E, Esbensen A, Evans CL, Faber KM, Foroud TM, Hart S, Haugen K, Head E, Hendrix S, Hillerstrom H, Kishnani PS, Krell K, Ledesma DL, Lai F, Lott I, Ochoa-Lubinoff C, Mason J, Nicodemus-Johnson J, Proctor NK, Pulsifer MB, Revta C, Rosas HD, Rosser TC, Santoro S, Schafer K, Scheidemantel T, Schmitt F, Skotko BG, Stasko MR, Talboy A, Torres A, Wilmes K, Woodward J, Zimmer JA, Feldman HH, Mobley W. (2021). Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study. J Clin Med. 10(9):1907.
Article
Stenerson ME, Yu PK, Kinane TB, Skotko BG, Hartnick CJ. (2021). Long-term stability of hypoglossal nerve stimulation for the treatment of obstructive sleep apnea in children with Down syndrome. Int J Pediatr Otorhinolaryngol., 149:110868.
Article
Santoro JD, Lee S, Wang AC, Ho E, Nagesh D, Khoshnood M, Tanna R, Durazo-Arvizu RA, Manning MA, Skotko BG, Steinberg GK, Rafii MS (2021). Increased Autoimmunity in Individuals With Down Syndrome and Moyamoya Disease. Front Neurol, 12:724969.
Article
Santoro SL, Brenner-Miller D, Cottrell C, Bress J, Torres A, Skotko BG. (2021). Using a Communication Passport within a Multidisciplinary Genetics Clinic. Pediatr Qual Saf., 6(5):e472.
Article
Grieco JA, Hartnick CJ, Skotko BG, Yu PK, Pulsifer MB. (2021). Preliminary Neurocognitive Results Post Hypoglossal Nerve Stimulation in Patients with Down Syndrome. Laryngoscope. 131(12):2830-2833.
Article
Santoro SL, Campbell A, Cottrell C, Donelan K, Majewski B, Oreskovic NM, Patsiogiannis V, Torres A, Skotko BG. Piloting the use of global health measures in a Down syndrome clinic.(2021) Journal of Applied Research in Intellectual Disabilities. 34(4):1108-1117
Article
Chung J, Sarathy A, Hsieh YG, Estey G, Torres A, Patsiogiannis V, Donelan K, Skotko BG (2021). Assessment of stakeholder engagement in a Down syndrome research study. J Patient Cent Res Rev. 8:64-7.
Article
Yu PK, Jayawardena ADL, Stenerson M, Pulsifer MB, Grieco JA, Abbeduto L, Dedhia RC, Soose RJ, Tobey A, Raol N, Ishman SL, Shott SR, Cohen MS, Skotko BG, Kinane TB, Keamy DG Jr, Hartnick CJ (2020). Redefining Success by Focusing on Failures After Pediatric Hypoglossal Stimulation in Down Syndrome. Laryngoscope. 31(7):1663-1669.
Article
Yun HJ, Perez JDR, Sosa P, Valdés JA, Madan N, Kitano R, Akiyama S, Skotko BG, Feldman HA, Bianchi DW, Grant PE, Tarui T, Im K (2021). Regional Alterations in Cortical Sulcal Depth in Living Fetuses with Down Syndrome. Cerebral Cortex, 31: 757-767.
Article
Santoro SL, Donelan K, Haugen K, Oreskovic NM, Torres A, Skotko BG (2021). Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome. Am J Med Genet C Semin Med Genet. [published online ahead of print, 2021 Jan 1]
Article
Yun HJ, Perez JDR, Sosa P, Valdés JA, Madan N, Kitano R, Akiyama S, Skotko BG, Feldman HA, Bianchi DW, Grant PE, Tarui T, Im K (2021). Regional Alterations in Cortical Sulcal Depth in Living Fetuses with Down Syndrome. Cerebral Cortex, 31: 757-767.
Article
Santoro SL, Donelan K, Haugen K, Oreskovic NM, Torres A, Skotko BG (2021). Transition to virtual clinic: Experience in a multidisciplinary clinic for Down syndrome. Am J Med Genet C Semin Med Genet. 187(1):70-82.
Article
de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in Europe. European Journal of Human Genetics. 29(3):402-410
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Chung J, Donelan K, Macklin EA, Schwartz A, Elsharkawi I, Torres A, Hsieh YG, Parker H, Lorenz S, Patsiogiannis V, Santoro SL, Wylie M, Clarke L, Estey G, Baker S, Bauer PE, Bull M, Chicoine B, Cullen S, Frey-Vogel A, Gallagher M, Hasan R, Lamb A, Majewski L, Mast J, Riddell T, Sepucha K, Skavlem M, Skotko BG. (2020). A randomized controlled trial of an online health tool about Down syndrome. Genetics in Medicine. 23(1):163-173
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Kats DJ, Patsiogiannis V, Skotko BG (2020). Epileptic Spasms in Patients With Down Syndrome: Experiences From Caregivers. J Child Neurol. 5(12):813-819.
Article
Kats DJ, Roche KJ, Skotko BG. (2020). Epileptic spasms in individuals with Down syndrome: A review of the current literature. Eplepsia Open. 5(3):344-353
Article
Oreskovic NM, Cottrell C., Torres,A., Patsiogiannis V, Santoro S, Nichols D, Moore C, Skotko BG. (2020). Physical activity patterns in adults with Down Syndrome. Journal of applied research in intellectual disabilities. 33(6):1457-1464.
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Rosso M, Fremion E, Santoro SL, Oreskovic NM, Chitnis T, Skotko BG, Santoro JD (2020). Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. Pediatrics, 145(6), e20192939.
Article
Santoro JD, Lee S, Mlynash M, Mayne EW, Rafii MS, Skotko BG (2020). Diminished Blood Pressure Profiles in Children With Down Syndrome. Hypertension (3):819-825.
Article
Mengel D, Liu W, Glynn RJ, Selkoe DJ, Strydom A, Lai F, Rosas HD, Torres A, Patsiogiannis V, Skotko B, Walsh DM (2020). Dynamics of plasma biomarkers in Down syndrome: the relative levels of Aβ42 decrease with age, whereas NT1 tau and NfL increase. Alzheimers Res Ther. 12(1):27.
Article
Antonarakis S, Skotko BG, Rafii MS, Strydom A, Pape SE, Bianchi DW, Sherman SL, Reeves RH (2020). Down syndrome. Nat Rev. Dis. Primers6: 9.
Article
Santoro SL, Cannon S, Capone G, Franklin C, Hart SJ, Hobensack V, Kishnani PS, Macklin EA, Manickam K, McCormick A, Nash P, Oreskovic NM, Patsiogiannis V, Steingass K, Torres A, Valentini D, Vellody K, Skotko BG (2019). Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. Genet Med.,
Early view online
Crombag NM, Page-Christiaens GC, Skotko BG, de Graaf G (2020). Receiving the news of Down syndrome in the era of prenatal testing. Am J Med Genet A. 182(2):374-385.
Article
Press Release
Joslyn N, Berger H, Skotko BG (2019). Geospatial analyses of accessibility to Down syndrome specialty care. The Journal of Pediatrics (19) 31469-6.
Article
Press Release
Ilacqua A, Benedict J, Shoben A, Skotko BG, Matthews T, Benson B, Allain DC (2019). Alzheimer’s disease development in adults with Down syndrome: Caregivers’ perspectives. Am J Med Genet Part A.,182(1):104-114.
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Hart SJ, Zimmerman K, Linardic CM, Cannon S, Pastore A, Patsiogiannis V, Rossi P, Santoro SL, Skotko BG, Torres A, Valentini D, Vellody K, Worley G, Kishnani PS (2019). Detection of iron deficiency in children with Down syndrome. Genetics in Medicine, 2(2):317-325
Early view online
Tarui T, Im K, Madan N, Madankumar R, Skotko BG, Schwartz A, Sharr C, Ralston SJ, Kitano R, Akiyama S, Yun HJ, Grant E, Bianchi DW (2019). Quantitative MRI Analyses of Regional Brain Growth in Living Fetuses with Down Syndrome. Cerebral Cortex, 30(1):382-390.
Article
Skotko BG, Allyse, MA, Bajaj K, Best RG, Klugman S, Leach M, Meredith S, Michie M, Stoll K, Gregg, AR (2019). Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations. Genetics in Medicine 21(10):2285-2292
Article ,
Supplementary Material ,
Press Release ,
Updated Assessments from Prenatal Research Information Consortium
Skotko BG, Samuelson D, Kageleiry A, Lefebvre P, Hellstern M, Campbell J (2019). Comment on “The price of abandoning diagnostic testing for cell-free DNA screening.” Prenatal Diagnosis. 39(2):130.
Comment
De Graaf G, Levine SP, Goldstein R, Skotko BG (2019). Parents’ perceptions of functional abilities in people with Down syndrome. American Journal of Medical Genetics Part A. 179(2): 161-176.
Article ,
Press Release
Santoro SL, Bartman T, Cua CL, Lemle S, Skotko BG (2018). Use of Electronic Health Record Integration for Down Syndrome Guidelines. Pediatrics 142(3).
Article
Lazar J, Woglom C, Chung J, Schwartz A, Hsieh Y, Moore R, Crowley D, Skotko B (2018). Co-Design process of a smart phone app to help people with Down syndrome manage their nutritional habits. Journal of Usability Studies 13(2): 73-93.
Article
Samuelson D, Kageleiry A, Sheng Duh M, Lefebvre P, Hellstern M, Campbell J, Skotko BG (2018). Income Growth Trajectory for Parents of Children with Down Syndrome in the United States.
Report
Diercks GR, Wentland C, Keamy D, Kinane TB, Skotko BG, de Guzman V, Grealish E, John Dobrowski J, Soose R, Hartnick CJ (2017). Hypoglossal Nerve Stimulation in Adolescents With Down Syndrome and Obstructive Sleep Apnea. JAMA Otolaryngology-Head & Neck Surgery, 144(1):37-42
Article
Hart S, Visootsak J, Tamburri P, Phuong P, Baumer N, Hernandez M-C, Skotko BG, Ochoa-Lubinoff C, D’Ardhuy X, Kishnani PS, Spiridigliozzi GA (2017). Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date. American Journal of Medical Genetics Part A, 173(11):3029-3041,
Article
De Graaf, G., Buckley, F., Dever, J., Skotko, B.G. (2017). Estimation of live birth and population prevalence of Down syndrome in nine U.S. states. American Journal of Medical Genetics, Part A, 173(10):2710-2719,
Supplementary Material
Article
Data for Figure 4
Data for Figure 5
Press Release
Jayaratne, Y.S.N., Elsharkawi, I., Macklin, E., Voelz, L., Weintraub, G., Rosen, D., Skotko, B.G. (2017). The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea. American Journal of Medical Genetics, Part A, 73(11):3013-3021
Article
Rafii, M.S., Skotko, B.G., McDonough, M.E., Pulsifer, M., Evans, C., Doran, E.., Muranevici, G., Kesslak, P., Abushakrah, S., Lott, I., for the ELND005-DS Study Group. (2017). A Randomized, Double-Blind, Placebo-Controlled, Phase II Study of Oral ELND005 (scyllo-Inositol) in Young Adults with Down Syndrome without Dementia. Journal of Alzheimer’s Disease, 58:401–411.
Article
Online Information
Allyse, M., Aypar, U., Bonhomme, N., Darilek, S., Doughtery, M., Farrell, R., Grody, W., Highsmith, W.E., Michie, M., Nunes, M., Otto, L., Pabst, R., Palomaki, G., Runke, C., Sharp, R.R., Skotko, B., Stoll, K. Wick, M. (2017). Offering Prenatal Screening in the Age of Genomic Medicine: A Practice Guide. Journal of Women’s Health, 26(7):755-761.
Article
Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler T, Vellody K, Voelz L, Skotko B. (2017). Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. American Journal of Medical Genetics Part A, 173A:1539-1545.
Article
Elsharkawi I, Gozal D, Macklin EA, Voelz L, Weintraub G, Skotko BG. (2017). Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome. Sleep Medicine, 34:84-89.
Article
Press Release
Skotko BG, Macklin EA, Muselli M, Voelz L, McDonough ME, Davidson E, Allareddy V, Jayaratne YSN, Bruun R, Ching N, Weintraub G, Gozal D, Rosen D. (2017). A predictive model for obstructive sleep apnea and Down syndrome. American Journal of Medical Genetics Part A, 73(4):889-896.
Article
Supplementary Materials ,
Press release
Kageleiry A, Samuelson D, Duh MS, Lefebvre P, Campbell J, Skotko BG. (2017). Out-of-pocket medical costs and third-party healthcare costs for children with Down syndrome. American Journal of Medical Genetics Part A, 173(3):627-637.
Article
Press Release
Allareddy V, Ching N, Macklin EA, Voelz L, Weintraub G, Davidson E, Albers Prock L, Rosen D, Bruun, R, Skotko BG. (2016). Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome. Progress in Orthodontics, 17(1):35.
Article
De Graaf G, Buckley F, Skotko B. (2016). Estimation of the number of people with Down syndrome in the United States. Genetics in Medicine, 19(4):437-447.
Article ,
Supplementary Material ,
Press Release ,
Fact Sheet
Sharr C, Lavigne J, Elsharkawi IMA, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier KL, Sparks S, Stock-Guild K, Toler TL, Vellody K, Voelz L, Skotko BG. (2016). Detecting celiac disease in patients with Down syndrome. American Journal of Medical Genetics, Part A 170A: 3098-3105.
Article
Skotko, B.G., Tenenbaum, A. (2016). Down syndrome. In Rubin, I.L., Merrick, J., Greydanus, D.E., Patel, D.R. (Eds.) Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. New York: Springer.
Textbook
Roberts, M., Skotko, B. (2016). Down syndrome. In Domino FJ (Ed.), www.5MinuteConsult.com, Philadelphia: Wolters Kluwer.
Anthony R. Gregg, Brian G. Skotko, Judith L. Benkendorf, Kristin G. Monaghan, Komal Bajaj, Robert G. Best, Susan Klugman, and Michael S. Watson; on behalf of the ACMG Noninvasive Prenatal Screening Work Group (2016). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine 18(10):1056-1065.
Article
Lavigne, J., Sharr, C., Ozonoff, A., Prock, L.A., Baumer, N., Brasington, C., Cannon, S., Crissman, B., Davidson, E., Florez, J.C., Kishnani, P., Lombardo, A., Lyerly, J., McCannon, J.B., McDonough, M.E., Schwartz, A., Berrier, K.L., Sparks, S., Stock-Guild, K., Toler, T.L., Vellody, K., Voelz, L., Skotko, B.G. (2015). National Down syndrome patient database: Insights from the development of a multi-center registry study. American Journal of Medical Genetics Part A 167A:2520–2526.
Article
Jacobs, J., Schwartz, A., McDougle, C., Skotko, B.G. (2016). Rapid Clinical Deterioration in an Individual with Down Syndrome. American Journal of Medical Genetics Part A 170(7): 1899–1902.
Article
Diercks, G.R., Keamy D., Kinane, T.B., Skotko, B., Schwartz, A., Grealish, E., Dobrowski, J., Soose, R., Hartnick, C. (2016). Hypoglossal Nerve Stimulator Implantation in an Adolescent with Down Sydnrome and Sleep Apnea. Pediatrics 137(5):e20153663.
Article
Pres Release
de Graaf, G., Buckley, F., Skotko, B.G. (2016). Live births, natural losses, and elective terminations with Down syndrome in Massachusetts. Genetics in Medicine 18: 459–466
Article
Skotko, B.G., Levine, S.P., Macklin, E.A., Goldstein, R.D. (2016). Family perspectives about Down syndrome. American Journal of Medical Genetics Part A 170(4): 930–941.
Article
Supplementary Materials ,
Press Release
de Graaf, G., Buckley, F., Skotko, B.G. (2015). Estimates of the live births, natural losses and elective terminations with down syndrome in the United States. American Journal of Medical Genetics, Part A 167A:756–767.
Article ,
Supplementary Materials ,
Fact Sheet
Grieco, J., Pulsifer, M., Seligsohn, K., Skotko, B., Schwartz, A. (2015). Down Syndrome: Cognitive and Behavioral Functioning Across the Lifespan. American Journal of Medical Genetics, Part C 169C:135-149.
Article
Gregg, A.R., Gross, S.J., Best, R.G., Monaghan, K.G., Bajaj, K., Skotko, B.G., Thompson, B.H., Watson, M.S., are the Noninvasive Prenatal Screening Working Group of the American College of Medical Genetics (2013). ACMG Statement on Noninvasive Prenatal Screening for Fetal Aneuploidy. Genetics in Medicine 15(5): 395-398.
Article
Skotko, B.G., Davidson, E.J., Weintraub, G.S. (2013). Contributions of a specialty clinic for children and adolescents with Down syndrome. American Journal of Medical Genetics, Part A 161(3):430-437.
Article
Article (Español)
Leach, M., Skotko, B.G. (2012). Resources available for informed prenatal decisions. (Letter to the Editor). Genetics in Medicine: 14:348-349.
Letter to the Editor
Skotko, B.G., Leach, M. (2011). Physicians need to offer up-to-date information about Down syndrome to expectant couples to inform decision-making [E-letter]. Pediatrics. October 17, 2011.
Letter to the Editor
Rosen, D., Lombardo A., Skotko, B., Davidson, E.J. (2011). Parental perceptions of sleep disturbances and sleep-disordered breathing in children with Down syndrome. Clinical Pediatrics, 50:121-125.
Article
Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Having a Brother or Sister with Down Syndrome: Perspectives from Siblings. American Journal of Medical Genetics Part A: 155:2348-2359.
Article
Press Release
Survey (in Supplementary Materials)
Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Having a Son or Daughter with Down Syndrome: Perspectives from Mothers and Fathers. American Journal of Medical Genetics Part A 155:2335-2347.
Press Release
Article
Survey (in Supplementary Materials) ,
Corrigendum
Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Self-perceptions from People with Down Syndrome. American Journal of Medical Genetics, Part A: 155:2360-2369.
Article
Press Release
Survey (in Supplementary Materials)
Skotko BG, Kishnani PS, Capone GT; Down Syndrome Diagnosis Study Group. Prenatal diagnosis of Down syndrome: how best to deliver the news. Am J Med Genet A. 2009 Nov;149A(11):2361-7. doi: 10.1002/ajmg.a.33082. PMID: 19787699.
Article
Skotko, B., Capone, G., & Kishnani, P. for the Down Syndrome Diagnosis Study Group (2009). Postnatal diagnosis of Down syndrome: Synthesis of the evidence on how best to deliver the news. Pediatrics,124: e751-e758.
Article
Press Release
Summary in Spanish
Skotko, B. & Levine S. P. (2009). Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. Bethesda, MD:
Woodbine House
Skotko, B. (2009). With new prenatal testing, will babies with Down syndrome slowly disappear? Archives of Disease in Childhood, 94: 823-826.
Article
Press release with video
Skotko, B. (2009). “Driving Forward.” InThicker than Water: Essays by Adult Siblings of People with Disabilities. Ed. Don Meyer. Bethesda, MD:
Woodbine House
Skotko, B. (2007). Letter to the editor: First- and second-trimester evaluation of risk for Down syndrome. Obstetrics and Gynecology, 110: 1426
Article
Skotko, B. (2006). Letter to the editor: Comparing Three Screening Strategies for Combining First- and Second-Trimester Down Syndrome Markers.Obstetrics & Gynecology. 107:1170.
Article
Skotko, B. (2006). Letter to the editor: A surprising postnatal diagnosis. Obstetrics and Gynecology, 108: 1297.
Article
Skotko, B., & Levine, P. (2006). What the other children are thinking: Brothers and sisters of persons with Down syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 142C:180-6.
Article
Press Release
Skotko, B. (2006). Words matter: The importance of nondirective language in first-trimester assessments for Down syndrome. American Journal of Obstetrics and Gynecology. 195:625-26
Article
Skotko, B., Canal, R. (2006). Continuing a Pregnancy After Receiving a Prenatal Diagnosis of Down Syndrome in Spain. Progresos en Diagnostico y Tratamiento Prenatal. 17: 189-92.
Article
English Version
Survey
Skotko, B. (2005). Mothers of children with Down syndrome reflect on their postnatal support.Pediatrics. 115: 64-77.
Article
Summary
Press Release
Survey
Skotko, B. (2005). Communicating the postnatal diagnosis of Down syndrome: An international call for change. Italian Journal of Pediatrics, 31: 237-243.
Article
Press Release
Skotko, B. (2005). Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers. American Journal of Obstetrics & Gynecology,192: 670-77.
Article
Summary
Press Release
Survey
Skotko, B., & Canal, R. (2004). Apoyo postnatal para madres de niños con síndrome de Down.Revista Síndrome de Down, 21: 54-71.
Article
Skotko, B. & Kidder C. (2001). Common Threads: Celebrating Life with Down Syndrome. Rochester Hills:
Band of Angles Press
Wang MJ, Cano-Guerra CA, Roberts DJ, Shook L, Bernstein SN, Victoria T, Fadakar PK, Aurora M, Skotko BG. Diagnostic Challenges of Inherited Renal Tubular Dysgenesis. Am J Med Genet A. 2025 Nov;197(11):e64155. doi: 10.1002/ajmg.a.64155. Epub 2025 Jun 16. PMID: 40519134.
Article
Grant N, Von Handorf R, Karaa A, Skotko BG. (2021). The experiences and support needs of siblings of people with mucopolysaccharidosis. Am J Med Genet A, 185(11):3418-3426.
Article
Coluzzi E, Pannone L, Andreoli C, Clementina Radio F, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Louw Roos J, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M (2019). Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 Sep 5;105(3):493-508.
Article
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM (2018). A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.Genetics in Medicine, 2019 21(5):1058-1064.
Article
Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk H-M, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K (2019). HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. American Journal of Medical Genetics Part A, 2019 early view online.
Article
Skotko, B., Rubin, D., & Tupler, L. (2008). H.M.’s personal crossword puzzles: Understanding memory and language. Memory, 16: 89-96.
Article
Skotko, B., Andrews, A., & Einstein, G. (2005). Language and the Medial Temporal Lobe: Evidence from H.M.’s Spontaneous Discourse. Journal of Memory and Language, 53: 397-415.
Article
Skotko, B., Kensinger, E., Locascio, J., Einstein, G., Rubin, D., Tupler L., Krendl, A., & Corkin, S. (2004). Puzzling thoughts for H.M.: Can new semantic information be anchored to old semantic memories? Neuropsychology, 18: 756-69
Article
Skotko, B., Koppenhaver, D., & Erickson, K. (2004). Parent reading behaviors and communication outcomes in girls with Rett syndrome. Exceptional Children, 70(2): 145-66.
Article
Parent & Child Codes
Koppenhaver, D., Erickson, K., Harris, B., McLellan, J., Skotko, B., & Newton, R. (2001). Storybook-based communication intervention for girls with Rett syndrome and their mothers.Disability and Rehabilitation, 23: 149-159.
Article
Koppenhaver, D., Erickson, K., Skotko, B. (2001). Supporting communication of girls with Rett syndrome and their mothers in storybook reading. International Journal of Disability, Development, and Education, 48: 395-410.
Article