Screening Echocardiography in Adults with Down Syndrome.

Down syndrome is the most common chromosomal disorder in the United States, occurring in about 14.14/10,000 births. It is associated with multiple medical anomalies, including cardiac, gastrointestinal, musculoskeletal, and genitourinary abnormalities, which increases the burden of morbidity for this patient population. Management is typically directed toward optimizing health and function throughout childhood and into adulthood; however, consensus regarding their management in adulthood is controversial. The burden of congenital cardiac diseases in children with trisomy 21 is well established, seen in more than 40% of cases. Although screening echocardiography is performed routinely within 1 month of birth, current consensus advocates for diagnostic echocardiography only in symptomatic adults with Down syndrome. Here, we advocate that screening echocardiography should be performed routinely in this patient population at all ages, particularly in late adolescence and early adulthood, because of a high percentage of residual cardiac defects and an increased risk of developing valvular and structural cardiac disease.

Tuesday's Teaching Tips-Evaluation and Feedback: A Spaced Education Strategy for Faculty Development.

Introduction: The AGGME requires faculty to participate annually in faculty development sessions. Barriers to this requirement include faculty having a lack of time and not perceiving benefits to participating. Effective evaluation and feedback are integral to resident training. Faculty often feel ill prepared to deliver feedback, and residents find accepting and recognizing feedback challenging. We provided faculty with a spaced education program via email that used cognitive theory of multimedia learning solutions in instructional design. Methods: The 14-week program consisted of one microlecture and 13 skills-based teaching tips. One tip reinforcing knowledge and skills from the microlecture was emailed each week for faculty to practice in the clinical environment with trainees. Participants completed a short quiz, course evaluation, and self-reflection. The new world Kirkpatrick model was used for program evaluation. Results: Fifty-two physician participants received credit for participating; 34 completed the entire course. Of the 34, 32 (94%) identified at least one effective feedback technique, and 27 (79%) were able to define evaluation and recognize observation as the cornerstone of evaluation. Out of the 15 effective feedback characteristics taught, 13 (87%) were identified. Fifty-one participants (98%) rated the program as good/excellent, 52 (100%) wanted more Tuesday's Teaching Tips programs, and the majority recognized change in knowledge and/or skills. Discussion: Participants rated the spaced education program as good/excellent and were able to meet the course objectives. This teaching strategy for faculty development was well received, as it was easily accessible and implemented in the clinical learning environment with trainees.

Management of Muscle Spasms in Adult Patients with Cerebral Palsy.

As medical care advances, there is a growing number of adult patients with cerebral palsy. The spastic form is characterized by muscle hypertonicity, hyperreflexia, and spasticity, which are associated with worse quality of life, poor functionality, and pain. This literature review attempts to explore the existing treatments for spasticity in cerebral palsy to provide insight into potential treatments in the adult population. The types of treatments are broadly categorized into physical therapy, pharmacologic treatments, botulinum toxin, surgical treatments, and alternative options.

A Primary Care Approach to Constipation in Adults with Intellectual and Developmental Disabilities.

Constipation is a condition that is very prevalent and is reported in up to 40 percent of individuals with intellectual and developmental disabilities (IDD). Constipation in this patient population is most commonly secondary to neuromuscular abnormalities, immobility, suboptimal diet, and medication side effects. History taking is frequently limited in adults with IDD due to communication barriers, often leading to a missed diagnosis of constipation. Inadequately treated constipation may lead to adverse effects including behavioral disturbances, fecal impaction, intestinal obstruction, and even death from intestinal perforation and sepsis. As a result, a high index of suspicion must exist for this patient population. Treatment in these patients requires an individualized approach, to reduce the constipation and its associated health complications.

Upper Gastrointestinal Disorders in Adult Patients with Intellectual and Developmental Disabilities.

The purpose of this literature review is to address the diagnosis and treatment of upper gastrointestinal (GI) disorders in patients with intellectual and developmental disabilities (IDD). Manifestations of upper GI dysmotility and disorders include dysphagia, pulmonary aspiration, malnutrition, gastroesophageal reflux, and gastritis, all of which can impact a person's quality of life and lead to chronic, life-threatening conditions. This article will explore the existing diagnostic methods and treatments for gastrointestinal disorders as they relate to patients with IDD.

Sleep Disordered Breathing in Adults with Cerebral Palsy: What Do We Know So Far?

As advances in medicine continue to extend the lifespan of patients with cerebral palsy (CP), emphasis must be placed on evaluating patients for chronic health issues common in the general adult population. Sleep-disordered breathing (SDB) affects a large number of otherwise healthy adults and is even more common in individuals with disability. SDB includes the following subtypes: obstructive sleep apnea, central sleep apnea, and sleep-related hypoventilation/hypoxemia. SDB consequences include poor daytime functioning from sleepiness and an increased risk of cardiovascular morbidity and mortality. There is a paucity of data available in the literature about the association between SDB and CP in the adult population. More research is needed to understand the true prevalence and management strategies of SDB in patients with CP. This review focuses on three major subtypes of SDB: obstructive sleep apnea, central sleep apnea, and sleep-related hypoventilation/hypoxemia.

Etiology and Management of Behavioral Disorder in Adults With Intellectual and Developmental Disabilities.

Intellectual disability (ID) encompasses a wide variety of disorders that can severely affect an individual's cognitive, social, emotional, and physical development, even when identified early in life. Initially, individuals with such disorders had shorter life expectancies. However, medical advances have increased the life expectancy of individuals with ID similar to that of the general population. More attention must be paid to manage diseases affecting the intellectually disabled elderly, such as diabetes, cardiovascular disease, chronic constipation, and behavioral disorders.

Osteoporosis in Adult Patients with Intellectual and Developmental Disabilities: Special Considerations for Diagnosis, Prevention, and Management.

As medical care progresses, patients with intellectual and developmental disabilities are living longer and beginning to experience diseases that commonly afflict the aging population, such as osteoporosis. Osteoporosis and resultant fractures increase disability and threaten the independence of this vulnerable population. In addition, the diagnosis, prevention, and management of osteoporosis present unique challenges in these patients. Critical preventive targets include exercise modification, fall prevention, and monitoring for nutrient deficiencies. Commonly used in diagnosis and treatment monitoring, dual-energy x-ray absorptiometry (DXA) scan of the hip and spine may not be feasible, whereas peripheral DXA or computed tomography may be more accessible for patients with physical disabilities. Pharmacological treatment should be tailored to the individual patient, considering factors such as adherence and comorbidities. Finally, bone turnover markers are a noninvasive, cost-effective option for monitoring treatment response in patients who cannot undergo DXA.

Gynecological Care and Contraception Considerations in Women with Cerebral Palsy.

The purpose of this literature review was to further explore gynecological care and contraceptive use in women with cerebral palsy. We address barriers to pelvic examinations for cervical cancer screenings and current contraceptive methods in severely debilitated patients with cerebral palsy.

Magnesium Supplementation in Vitamin D Deficiency.

BACKGROUND: Vitamin D and magnesium (Mg) are some of the most studied topics in medicine with enormous implications for human health and disease. Majority of the adults are deficient in both vitamin D and magnesium but continue to go unrecognized by many health care professionals. AREAS OF UNCERTAINTY: Mg and vitamin D are used by all the organs in the body, and their deficiency states may lead to several chronic medical conditions. Studies described in the literature regarding these disease associations are contradictory, and reversal of any of these conditions may not occur for several years after adequate replacement. One should consider the supplementation therapy to be preventative rather than curative at this time. DATA SOURCES: PubMed search of several reported associations between vitamin D and Mg with diseases. RESULTS: Vitamin D and Mg replacement therapy in elderly patients is known to reduce the nonvertebral fractures, overall mortality, and the incidence of Alzheimer dementia. CONCLUSIONS: Vitamin D screening assay is readily available, but the reported lower limit of the normal range is totally inadequate for disease prevention. Based on the epidemiologic studies, ∼75% of all adults worldwide have serum 25(OH)D levels of <30 ng/mL. Because of the recent increase in global awareness, vitamin D supplementation has become a common practice, but Mg deficiency still remains unaddressed. Screening for chronic magnesium deficiency is difficult because a normal serum level may still be associated with moderate to severe deficiency. To date, there is no simple and accurate laboratory test to determine the total body magnesium status in humans. Mg is essential in the metabolism of vitamin D, and taking large doses of vitamin D can induce severe depletion of Mg. Adequate magnesium supplementation should be considered as an important aspect of vitamin D therapy.

Catheter takedown in the management of the acutely failing Fontan circulation.

The acutely failing Fontan circulation requires urgent management to decompress the systemic venous pressures and augment cardiac output. This may involve the use of extracorporeal membrane oxygenation support to preserve life. Catheter-based effective Fontan takedown is an alternative to surgery in these patients, who are acutely unstable, and offers the potential for an adjustable fenestration.

Using multiple sources of data to assess the prevalence of diabetes at the subcounty level, Duval County, Florida, 2007.

INTRODUCTION: Diabetes rates continue to grow in the United States. Effectively addressing the epidemic requires better understanding of the distribution of disease and the geographic clustering of factors that influence it. Variations in the prevalence of diabetes at the local level are largely unreported, making understanding the disparities associated with the disease more difficult. Diabetes death rates during the past 15 years in Duval County, Florida, have been disproportionately high compared with the rest of the state. METHODS: We analyzed multiple sources of secondary data related to diabetes illness and death in Duval County, including data on hospital discharge, emergency department (ED) use, and vital statistics. We accessed diabetes and diabetes-related ED use and hospitalization and death data by using codes from the International Classification of Diseases versions 9 and 10. We analyzed data from the Behavioral Risk Factor Surveillance System survey for Duval County and adapted Centers for Disease Control and Prevention weighting formulas for subcounty analysis. We used relative risk-type disease ratios and geographic information systems mapping to analyze data. RESULTS: The urban, mostly minority, low-socioeconomic area of Duval County had twice the rate of diabetes-related illness and death as other areas of the county, and the inner-city, poor area of the county had almost 3 times the rate of hospitalization and ED use for diabetes and diabetes-related conditions compared with the other areas of the county. CONCLUSION: Our analyses show that diabetes-related disparities affect not only people and their families but also the community that absorbs the costs associated with the disproportionate health care use that results from these disparities. Analyzing data at the subcounty level has implications for health care planning and public health policy development at the local level.

Reach and effectiveness of DVD and in-person diabetes self-management education.

OBJECTIVES: To evaluate the reach and effectiveness of a diabetes self-management DVD compared to classroom-based instruction. METHODS: A hybrid preference/randomized design was used with participants assigned to Choice v. Randomized and DVD v. Class conditions. One hundred and eighty-nine adults with type 2 diabetes participated. Key outcomes included self-management behaviours, process measures including DVD implementation and hypothesized mediators and clinical risk factors. RESULTS: In the Choice condition, four times as many participants chose the mailed DVD as selected Class-based instruction (38.8 v. 9.4%, p<0.001). At the 6-month follow-up, the DVD produced results generally not significantly different than classroom-based instruction, but a combined Class plus DVD condition did not improve outcomes beyond those produced by the classes alone. DISCUSSION: The DVD appears to have merit as an efficient and appealing alternative to brief classroom-based diabetes education, and the hybrid design is recommended to provide estimates of programme reach.

An unusual presentation of Burkitt lymphoma.

We describe a 37-year-old non-smoker who presented with dyspnea and a unilateral effusion secondary to Burkitt lymphoma (BL). The diagnosis was made by pleural tissue biopsy using video-assisted thoracoscopic surgery (VATS). Burkitt lymphoma is discussed.

NIH consensus development statement on hydroxyurea treatment for sickle cell disease.

National Institutes of Health consensus and state-of-the-science statements are prepared by independent panels of health professionals and public representatives on the basis of (1) the results of a systematic literature review prepared under contract with the Agency for Healthcare Research and Quality (AHRQ), (2) presentations by investigators working in areas relevant to the conference questions during a 2-day public session, (3) questions and statements from conference attendees during open discussion periods that are part of the public session, and (4) closed deliberations by the panel during the remainder of the second day and morning of the third. This statement is an independent report of the panel and is not a policy statement of the NIH or the U.S. Government.The statement reflects the panel's assessment of medical knowledge available at the time the statement was written. Thus, it provides a "snapshot in time" of the state of knowledge on the conference topic. When reading the statement, keep in mind that new knowledge is inevitably accumulating through medical research.