Explore This Research Program

Overview

We are a research team composed of enthusiastic healthcare providers committed to innovation in Down syndrome research. Our team is motivated to offer research opportunities that can help maximize the life potential for all people with Down syndrome. Working collaboratively with researchers around the globe, we are dedicated to advancing our shared understanding of biological processes associated with Down syndrome. To this extent, we are proud to offer families a portfolio of research opportunities.

Mission Statement

We are a collaborative, multidisciplinary team, serving people with Down syndrome of all ages and their families. We provide evidence-based clinical care, education, and cutting-edge research so that individuals with Down syndrome can reach their full potential.

Vision Statement

Our passion is to provide healthcare, research, and education that contribute to a world in which all people with Down syndrome are accepted, celebrated and have the opportunity to fully realize their potential.

Current Research Projects

Alzheimer's Vaccine "ABATE" Study

The ABATE Study is testing an investigational vaccine for Alzheimer’s disease in people with Down syndrome. People with Down syndrome often get Alzheimer’s disease (a type of dementia) when they get older. Dementia is a disease that causes memory loss and other thinking problems. Dementia due to Alzheimer’s occurs when a protein called amyloid builds up in the brain.

The ABATE Study is testing a vaccine against Alzheimer’s. We want to see if the vaccine is safe. We also want to see if it slows the progression of Alzheimer’s disease in people with Down syndrome. About 80 people with Down syndrome will take part in the ABATE Study.

Who is eligible for the ABATE Study?
You may be able to join this study if you:

  • Have Down syndrome
  • Are between 35 and 50 years old
  • Have a study partner

Your study partner is someone who could support you during your participation. For example, they could be a family member or any relative close to you, or a carer.

What is the study treatment?
The study treatment, ACI-24.060, is a new vaccine which is not yet on the market. It may help to remove amyloid in the brain. This could slow down memory loss and thinking problems. In the ABATE Study, you will receive either the vaccine or an inactive vaccine (also called placebo). This is so we can see how the vaccine affects your body. Neither you nor the study team will know which vaccine you are getting. You will get the vaccine or inactive vaccine, as well as any tests and visits for the study, at no cost.

What happens in the ABATE Study?
The study lasts for about 2 years and is split into 3 parts:

  • Screening Period: The study team will do tests to see if you meet the criteria to join the study. If you can join, you and your study partner will sign consent forms before you begin.
  • Treatment Period: You will get either the vaccine or inactive vaccine 6 times. You will also have visits at the study clinic and phone calls so the study team can check your health and check how the vaccine is working in your body.
  • Follow-up Period: You won’t get the vaccine or inactive vaccine anymore. You will have some visits to check your health and see how the vaccine is working in your body.

The ABATE study is sponsored by AC Immune and registered in the USA and Europe - ClinicalTrials.gov number NCT05462106 / EU CT Number 2022-500069-29-00.

If you are interested, please complete this screening survey to find out if you meet the intial enrollment criteria.

You and your study partner can learn more by visiting Abate-study.com or by contacting us at 617-726-6297 or email researchdownsyndrome@mgh.harvard.edu.

Fluoxetine and Depression

Does your adult child with Down syndrome have symptoms of depression? The Massachusetts General Hospital at the Lurie Center is currently recruiting for a new research study that will evaluate the effectiveness and safety of the drug fluoxetine for the treatment of depression in adults with Down syndrome.
Participants must be:

  • 18 to 45 years of age
  • diagnosed with Down syndrome
  • have symptoms of depression

For more information, please contact Dr. Robyn Thom’s research staff at: (781) 860-1711 or LurieCenterResearch@partners.org.

Neuroimaging and EEG Research Study

We are conducting a research study to examine the effectiveness of transcranial photobiomodulation (tPBM) on improving language, memory and attention in adults with Down syndrome (ages 18-30 years). The study consists of 1 screening visit, approximately 3 study visits and 18 treatment sessions (3/week for 6 weeks). Study visits include neuropsychological testing, EEG testing, and MRI scans. You will be compensated up to $1,245 for participating and a stipend of $525 for cost of transportation. Caregivers will receive a stipend of $525.

If you are interested in participating, please contact us at 617-724-4539 or pbm@mgh.harvard.edu.

Effects of Hypoglossal Nerve Stimulation on Cognition & Language in Down Syndrome

We are studying new ways to treat obstructive sleep apnea in children and young adults with Down syndrome who have persistent obstructive sleep apnea despite prior tonsillectomy. We will be researching how placement of an investigational surgically implanted nerve stimulator for the purpose of treating severe obstructive sleep apnea (OSA) improves the neurocognition and expressive language skills in children with Down syndrome, ages 10-21. This therapy has already been tested and approved by the FDA for use in adults meeting specific requirements. This research is being conducted at Massachusetts General Hospital and Massachusetts Eye and Ear Infirmary by Drs. Hartnick and Skotko. If you are interested in learning more about this study, and whether or not you/your child would be an appropriate candidate, please contact the research team by calling Dr. Hartnick at (617) 573-4206 or by email at Christopher_Hartnick@meei.harvard.edu.

Developing a Down Syndrome Health Instrument

Primary caregivers are asked to participate in a survey about the health of individuals with Down syndrome. Although over 200,000 individuals with Down syndrome live in the United States, studies to date have focused on outcomes apart from health. We need to accurately measure the health of all individuals with DS – and there are not similar tools for this population available. Creating such an instrument will provide a barometer of the current state of health for DS and hold use in future research. We are creating an instrument that directly assesses health in DS – the Down syndrome Health Instrument (DHI). The goal of the DHI is to accurately measure the current health of an individual with Down syndrome.

To be eligible, you must (1) be the primary caregiver of an individual with Down syndrome (and the individual must be <22 years of age and not have mosaic DS), (2) you, the caregiver, must be ≥ 18 years of age, (3) be fluent in written and spoken English, and 4) be able to read and provide informed consent. Participation is completely voluntary, and you have the right to withdraw at any time.

Please email researchdownsyndrome@partners.org or call 617-726-7927 if you are interested in participating.

Longitudinal Investigation for the Enrichment of Down Syndrome Research (LIFE-DSR)

Massachusetts General Hospital’s Down Syndrome Program is pleased to introduce our new study, the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) in collaboration with LuMind IDSC. This study represents a milestone for Down syndrome research as it is the first study in LuMind’s Clinical Trials Network. LIFE-DSR is a natural history study that aims to better understand the progression of Alzheimer’s disease in those with Down syndrome.

Ben Majewski and Amy Torres

The study will examine behavioral, cognitive, and health changes that may occur over the course of 2-3 years, with a focus on how these changes relate to the development of Alzheimer’s dementia. Alzheimer’s disease is an important topic in the DS community because by the age of 60 about 70% of those with DS will develop Alzheimer’s dementia, compared to the general population where only 10-12% of seniors develop the disease.

The goal of LIFE-DSR is to gather information in order to develop tools capable of measuring changes associated with Alzheimer’s disease in those with Down syndrome. LIFE-DSR will also collect blood samples to aid in the development of blood tests for Alzheimer’s Disease.

The recruitment is now closed but the study is on-going. You can find more information from the Lumind IDSC Clinical Trails Network.

Down Syndrome Patient Database

All current patients in the Down Syndrome Program at Massachusetts General Hospital are invited to participate in a research project to build an international national registry to track the health and medical history of people with Down syndrome across their lives. Health information will be collected from existing and future medical records, so there are no extra study visits or procedures. This Down Syndrome Patient Registry is taking place at Massachusetts General Hospital, as well as other centers around the United States and the world that specialize in Down syndrome clinical care and research.

Here are research publications that have resulted from this project:

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.

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, early view online.

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.

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.

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.

Completed Research Projects

A young man with Down syndrome sits on an examination table, looking faintly, patiently amused, while a researcher listens to his heart with a stethoscope.Social Networks of People with Down syndrome

Adults with Down syndrome, ages 25 and older, and their caregivers were asked to participate in a 30-minute interview. We developed a survey that measures individuals’ social networks. Your social network is the collection of friends and family with whom you engage on a regular basis.

The study included one 30-minute interview with a Study Coordinator, during which, we asked the adult with Down syndrome basic questions about him/herself and the people with whom he/she regularly connects. At the same time, the caregiver was asked to complete a 30-minute electronic questionnaire. The interview took place in person in a private meeting space at Massachusetts General Hospital or virtually. A year after the first study visit the questionnaire was repeated for both the participant and the caregiver.

This study resulted in two publications:

  • 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.
  • 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.

Engaging underserved families in the United States with Down Syndrome Clinic to You (DSC2U)

This research project is looking to identify barriers and find sustainable pathways to engage with Spanish-speaking and/or African American Down syndrome communities. Through this research project we hope to learn culturally appropriate ways for clinicians and researchers to engage Spanish-speaking and/or African American caregivers around the topic of health and wellness for people with Down syndrome. We believe that everyone should have access to excellent affordable, specialty care. Together, we are looking for ideas on how we might be able to bridge the gap of opportunity and access to health and wellness information. In order to do this, we are conducted focus groups, PCP interviews, and an online survey.

Phase I Clinical Trial: an investigational vaccine for treatment of Alzheimer’s disease in people with Down syndrome

It is well known that individuals with Down syndrome develop Alzheimer's at a much higher rate than the general population. This research study will test whether an investigational vaccine can affect Alzheimer's-related brain changes in Down syndrome.

The study was a randomized, placebo-controlled, double-blinded Phase I clinical trial. This means that study participants were randomly given either the active investigational vaccine or a non-active placebo that looks like the active drug; neither the participant nor the study personnel at our clinic knew who is receiving which one.

The study lasted 24 months, during which study participants visited the study clinic 22 times. At each visit, participants were asked how they are feeling, and, at some of the visits, they underwent medical exams, memory tests, blood tests, EKG, and brain imaging scans. The active participation phase of this trial is now complete.

Here is an educational video, explaining some of the preliminary results.

Physical Activity Assessment in Adults with Down Syndrome

Many adult patients with Down Syndrome are overweight or obese, and physical activity which can help with weight control is therefore a health priority in individuals with Down Syndrome. Objective information about physical activity level is not typically available for individuals with Down Syndrome, however, and patient-reported or caregiver-reported physical activity estimations are not always available or accurate. Adult subjects had an objective assessment of their physical activity measured using an accelerometer. This objective physical activity assessment helped us counsel patients on healthy lifestyles and weight management, and the individual data was pooled to help us better understand what physical activity patterns look like in this high risk patient population.

Predicting Obstructive Sleep Apnea in People with Down Syndrome

This project sought to develop a more efficient method of screening for obstructive sleep apnea (OSA) in individuals with Down syndrome. OSA is associated with a number of medical complications ranging from cognitive deficits to lung and heart disorders. Yet, while OSA is common among individuals with Down syndrome, the current method for diagnosing OSA—an overnight sleep study—can be uncomfortable, costly, and inconvenient for both patients and their families.

Here are the research publications that resulted from this project:

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

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

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.

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.

Nutrition and Weight Management in People with Down Syndrome

Nutrition and weight management are health priorities for individuals with Down syndrome. However, quantitative data is not always available to detail the burden of poor nutrition, prevalence of overweight/obesity in the Down syndrome community or possible solutions to these problems. This poster shares novel data collected from the Massachusetts General Hospital Down Syndrome Program patients. It discusses:

  • The prevalence of overweight and obesity among children and adults seen in our program, including a comparison to statistics for the general population and other individuals with intellectual or developmental disabilities.
  • The natural BMI trend of a sample of our patients over a 6-month period.
  • The results of surveys completed by patients on their self-identified nutrition challenges, as well as their use of mobile technology.

View our research poster

ELND005 Drug Trial for People with Down Syndrome Is a Success

The results are now in: The Phase 2 clinical drug trial of ELND005, sponsored by Transition Therapeutics, was a success! As many of you know, our Down Syndrome Program at Massachusetts General Hospital was one of three sites in the country selected to participate in this landmark study. We are thankful to the six adults with Down syndrome, and their caregivers, who participated at our clinic. Read a summary of the study, and learn what this might mean for your son or daughter with Down syndrome in the future.

The next step would be to test ELND005 in a Phase 3 clinical drug trial. At this time, the company has decided not to pursue this next step.

Here are the research publication that resulted from this project:

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. Press release.

Group Members

Meet our team
Left to right: Nicolas Oreskovic, MD; Brian Skotko, MD, MPP; Stephanie Santoro, MD; Jose Florez, MD, PhD

Investigators

Statistician

Eric Macklin, PhD

Research Assistants

Ayesha Harisinghani, MPH/MPA
Mikayla Shaffer, BS

Program Manager

Amy Torres, BS
aetorres@partners.org
617-726-7927

Publications

Team publications

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. Primers 6: 9. Article.

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.

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.

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., early view online.

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, 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, early view online July 2, 2019.

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, Early view online. 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.

De Graaf G, Buckley F, Skotko BG (2018). Brith and population prevalence for Down syndrome in European countries. Poster at World Down Syndrome Congress convention, Glasgow, Scotland, July 25-27, 2018.

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.

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, Article. Supplementary Material. Data for Figure 4. Data for Figure 5Fact Sheet.

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. Press release. 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

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

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

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. Early view online. Article. 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.

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 Syndrome and Sleep Apnea. Pediatrics 137(5):e20153663. Article. Press 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

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.

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.

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.

White, Melissa (2013). Providing Breastfeeding Support in the Hospital Setting for Mothers Who Have Infants With Down Syndrome. ICAN: Infant, Child, & Adolescent Nutrition. 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 (English). Article (Español).

Schwartz, A. (2012) The ins & outs of transition planning. (Article) (pdf)

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.

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. Article. Press release.

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.

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.

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. (2009). "Driving Forward." In Thicker than Water: Essays by Adult Siblings of People with Disabilities. Ed. Don Meyer. Bethesda, MD: Amazon.

Skotko, B., Kishnani, P., & Capone, G. for the Down Syndrome Diagnosis Study Group (2009). Prenatal diagnosis of Down syndrome: How best to deliver the news. American Journal of Medical Genetics, Part A,149A: 2361-2367. Article. Press release. Summary in Spanish.

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. (2009). With new prenatal testing, will babies with Down syndrome slowly disappear? Archives of Disease in Childhood, 94: 823-826. Article.

Skotko, B. & Levine S. P. (2009). Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. Bethesda, MD: Woodbine House.

Florez, J. (2007). Knowledge is power. (Article). Journal of the American Medical Association, Vol 298, No.13

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: 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. (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., 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). Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers. American Journal of Obstetrics & Gynecology,192: 670-77. Article, SummaryPress Release, Survey.

Skotko, B., & Canal, R. (2005). Postnatal support for mothers of children with Down syndrome. Mental Retardation, 43: 196-212. Article. 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., & 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 Angels Press.