A5087067193- Down syndrome and intellectual disability research
- Prenatal Screening and Diagnostics
- Chronic Disease Management Strategies
- Family and Disability Support Research
- Adolescent and Pediatric Healthcare
- Obstructive Sleep Apnea Research
- Disability Rights and Representation
- Aging, Health, and Disability
- Fetal and Pediatric Neurological Disorders
- Parvovirus B19 Infection Studies
- Genetics and Neurodevelopmental Disorders
- Congenital Heart Disease Studies
- Neuroscience of respiration and sleep
- Ethics and Legal Issues in Pediatric Healthcare
- Medical Coding and Health Information
- Autism Spectrum Disorder Research
- Geriatric Care and Nursing Homes
- Immunodeficiency and Autoimmune Disorders
- Genomic variations and chromosomal abnormalities
- Child and Adolescent Health
- Connective tissue disorders research
- Tracheal and airway disorders
- Emergency and Acute Care Studies
- Neurobiology of Language and Bilingualism
- Health Policy Implementation Science
Massachusetts General Hospital
2016-2025
Harvard University
2016-2025
Mayo Clinic
2020
Albert Einstein College of Medicine
2020
Montefiore Medical Center
2020
Prisma Health
2020
University of South Carolina
2020
University of Kentucky
2020
University School
2020
Baylor University Medical Center
2020
The present and future live birth prevalence of Down syndrome (DS) is practical importance for planning services prioritizing research to support people living with the condition. Live influenced by changes in prenatal screening technologies policies. To predict impact these changes, a model estimating births DS required. In this study, we combine diverse robust datasets validated estimation techniques describe non-selective United States from 1900-2010. Additionally, period 1974-2010,...
Since 1964, researchers have been examining the ways in which physicians deliver a postnatal diagnosis of Down syndrome (DS). Almost all studies, however, limited to reflections or very small sample sizes. The objective this study was document, most robust comprehensive way, mothers United States who received diagnoses DS for their children.An 11-page survey mailed 2945 persons on membership lists 5 parent organizations. gathered both quantitative and qualitative data with yes/no questions,...
Abstract This study asks parents who have children with Down syndrome (DS) how they feel about their lives so that such information could be shared expectant couples during prenatal counseling sessions. A valid and reliable survey instrument was mailed to 4,924 households on the mailing lists of six non‐profit DS organizations. Of 2,044 respondents, 99% reported love son or daughter; 97% were proud them; 79% felt outlook life more positive because 5% embarrassed by 4% regretted having them....
Abstract This study asks people with Down syndrome (DS), ages 12 and older, about their self‐perception so that information could be shared new expectant parents of children DS. We analyzed valid reliable survey instruments from 284 DS on the mailing lists 6 non‐profit organizations around country. Among those surveyed, nearly 99% indicated they were happy lives, 97% liked who are, 96% how look. Nearly expressed love for families, brothers sisters. While 86% felt make friends easily,...
Patients with Down syndrome have a high incidence of persistent obstructive sleep apnea (OSA) and limited treatment options. Upper airway hypoglossal stimulation has been shown to be effective for adults OSA but not yet evaluated pediatric populations.
Objective To develop standardization for nomenclature, diagnostic work up and criteria cases of neurocognitive regression in Down syndrome. Background There are no consensus the evaluation or diagnosis persons with As such, previously published data on this condition is relegated to smaller case series heterogenous sets. Lack standardized assessment tools has slowed research clinical area. Methods The authors performed a two-round traditional Delphi method survey an international group...
ABSTRACT Parents of children with Down syndrome have historically reported poor experiences receiving a prenatal diagnosis. In 2003 survey, mothers that their physicians pitied them, emphasized negative aspects syndrome, and encouraged them to terminate the pregnancy. This study assesses whether parents' perceptions since improved. Community‐based organizations had distributed original survey similar parents who child 2003. Compared continued report dissatisfaction medical care ( N = 60)....
Abstract We recruited caregivers of individuals ages 0–21 with Down syndrome (DS) to complete an electronic survey. Multiple recruitment sources and methods were used. From 2023–2024, we received 542 valid, survey responses. found the most success use DS affiliate organizations, DS-Connect® contact registry for DS, outreach clinic patients. Of those who started screener, 1,569 people screened in eligible; eligible, 730 (46.5%) consented. experienced bots fraudsters despite efforts minimize...
Abstract This study asks brothers and sisters about their feelings perceptions toward sibling with Down syndrome (DS). We analyzed valid reliable surveys from 822 whose families were on the mailing lists of six non‐profit DS organizations around country. More than 96% brothers/sisters that responded to survey indicated they had affection DS; 94% older siblings expressed pride. Less 10% felt embarrassed, less 5% a desire trade in for another brother or sister without DS. Among siblings, 88%...
Abstract We investigated what added value, if any, a Down syndrome specialty clinic brings to the healthcare needs of children and adolescents with syndrome. For this quality improvement study, we performed retrospective chart review 105 new patients syndrome, ages 3 older, seen during inaugural year our clinic. asked how many were already up‐to‐date on screenings recommended for people further analyzed tests ordered, which referrals suggested, and, ultimately, diagnoses co‐occurring medical...
For all of the U.S. states with sufficient data, we estimated live birth and population prevalences for Down syndrome (DS). As social service resources vary between states, such data are important public policy discussions state planning. We predicted actual nonselective prevalence, DS in nine based on publicly available datasets from Centers Disease Control Prevention Integrated Public Use Microdata Series. 2010, a size people 4,554 MA (population prevalence 1 1,440), 6,101 NJ (1 1,443),...
<h3>Importance</h3> Obstructive sleep apnea (OSA) affects up to 60% of children with Down syndrome (DS) and may persist in half patients after adenotonsillectomy. Children DS who have persistent OSA often do not tolerate treatment positive pressure airway support devices or tracheotomy for their residual moderate severe OSA. The hypoglossal nerve stimulator is an implantable device that delivers electrical impulse anterior branches the response respiratory variation, resulting tongue base...
There are currently no pharmacological therapies to address the intellectual disability associated with Down syndrome. Excitatory/inhibitory imbalance has been hypothesized contribute impairments in cognitive functioning Negative modulation of GABAA-α5 receptor is proposed as a mechanism attenuate GABAergic function and restore excitatory/inhibitory balance.Basmisanil, selective negative allosteric modulator, was evaluated at 120 mg or 240 BID (80 160 for 12-13 years) 6-month, randomized,...
An expansive menu of prenatal tests for Down syndrome (DS) is already available to pregnant women around the globe, but new are likely become most popular entrees. Presently, can choose among many screening – triple screen, quadruple first-trimester combined stepwise sequential screens, and fully integrative screens receive statistical chances that their fetuses have DS, varying degrees detection (table 1).1 For a definitive diagnosis however, currently just two options, both which invasive:...
Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) reported prevalences ranging between 55% and 97%, compared to 1–4% the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, poorly tolerated by individuals DS. The objective of this study was construct a tool identify DS unlikely have moderate or severe OSA whom might offer little benefit. An observational, prospective cohort performed an outpatient clinic overnight center 130...