Medical care of adults with Down Syndrome a clinical guideline

Down syndrome is the most common chromosomal condition, and average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Despite the unique clinical comorbidities among adults with Down syndrome, there are no clinical guidelines for the care of these patients. To develop an evidence-based clinical practice guideline for adults with Down syndrome. The Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup (n = 13) developed 10 Population/Intervention/ Comparison/Outcome (PICO) questions for adults with Down syndrome addressing multiple clinical areas including mental health (2 questions), dementia, screening or treatment of diabetes, cardiovascular disease, obesity, osteoporosis, atlantoaxial instability, thyroid disease, and celiac disease. These questions guided the literature search in MEDLINE, EMBASE, PubMed, PsychINFO, Cochrane Library, and the TRIP Database, searched from January 1, 2000, to February 26, 2018, with an updated search through August 6, 2020. Using the GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) methodology and the Evidence-to-Decision framework, in January 2019, the 13-member Workgroup and 16 additional clinical and scientific experts, nurses, patient representatives, and a methodologist developed clinical recommendations. A statement of good practice was made when there was a high level of certainty that the recommendation would do more good than harm, but there was little direct evidence. From 11 295 literature citations associated with 10 PICO questions, 20 relevant studies were identified. An updated search identified 2 additional studies, for a total of 22 included studies (3 systematic reviews, 19 primary studies), which were reviewed and synthesized. Based on this analysis, 14 recommendations and 4 statements of good practice were developed. Overall, the evidence base was limited. Only 1 strong recommendation was formulated: screening for Alzheimer-type dementia starting at age 40 years. Four recommendations (managing risk factors for cardiovascular disease and stroke prevention, screening for obesity, and evaluation for secondary causes of osteoporosis) agreed with existing guidance for individuals without Down syndrome. Two recommendations for diabetes screening recommend earlier initiation of screening and at shorter intervals given the high prevalence and earlier onset in adults with Down syndrome. These evidence-based clinical guidelines provide recommendations to support primary care of adults with Down syndrome. The lack of high-quality evidence limits the strength of the recommendations and highlights the need for additional research.

Efficacy of the ganciclovir implant in the setting of silicone oil vitreous substitute.

OBJECTIVE: To evaluate the efficacy of the ganciclovir implant in the setting of silicone oil vitreous substitute. MATERIALS AND METHODS: The authors retrospectively reviewed the charts of 19 patients with cytomegalovirus retinitis who had both a ganciclovir implant and silicone oil vitreous substitute. None of the patients was receiving highly active antiretroviral therapy during the study period. Kaplan-Meier analysis was used to evaluate time to progression in eyes with the ganciclovir implant and silicone oil. RESULTS: In all eyes, the ganciclovir device implantation preceded or coincided with silicone injection. Kaplan-Meier analysis revealed that time to 25% failure from the date of the presence of both the implant and oil was 129 days. Time to 25% failure from the date of ganciclovir device implantation was 179 days. CONCLUSIONS: These results compare favorably with conventional treatment. The ganciclovir implant can be a useful treatment modality in eyes with silicone oil.

Overweight prevalence in persons with Down syndrome.

Prevalence of overweight among the general population has been reported to be 33% for males and 36% for females. We undertook this study to establish overweight prevalence data in a cohort with Down syndrome and to stratify the incidence of overweight by living arrangement. We measured Body Mass Index (BMI) in 283 persons with Down syndrome and found a higher prevalence of overweight in this group compared to the general population. Individuals with Down syndrome living in a family setting had a higher incidence of overweight than did those living in a group home setting. Overweight prevalence among persons with Down syndrome should be considered a major public health concern that warrants further attention from researchers, practitioners, family members, and individuals with Down syndrome.

Observed social interaction patterns in adolescents with and without craniofacial conditions.

OBJECTIVE: This study examined social interactions of adolescents in a natural environment (school lunch room) to determine if there were identifiable differences in social behavior between children with and without craniofacial conditions (CFC). DESIGN: This was an observational study comparing social interaction skills of children with CFC to peers without craniofacial conditions. SETTING: The observations were conducted in the respective school lunch rooms of the adolescents with CFC. PARTICIPANTS: Clinical subjects were 13 adolescents (4 male) with various craniofacial conditions (5 cleft lip and palate) and 12 (4 male) peers without CFC present in the same lunch room. MAIN OUTCOME MEASURES: An unknown observer obtained 45 minutes of structured observational data on subject initiations, responses, nondirected comments, and extended conversations over two to three lunch room periods. Data was coded on the Epson HX-20 for type, frequency, and duration of social contact. Specific measures included: subject initiations and responses, peer initiations and responses, conversations events, and nondirected comments. RESULTS: Statistically significant differences were found between CFC and comparison subjects (CS) on each social interaction variable measured. CS initiated more contacts, received positive responses more frequently, and engaged in longer conversations than CFC subjects ([F (1,24) = 14.1, p < .01; F (1,24) = 67.2, p < .001; F (1,24) = 5.50, p < .05]. CS were approached by and responded appropriately to peers more often [F (1,24) = 28.1, p < .001; F (1,24) = 43.2, p < .001]. Subjects with CFC were more likely to produce nondirected comments (N = 7, x = 0, p < .01). CONCLUSIONS: A significant number of children with CFC behaved differently than their peers in a natural, daily occurring situation. They were often at the periphery of the group, observers rather than participants in conversation.

Brush cytology for pancreatic carcinoma: an analysis of factors influencing results.

BACKGROUND: Despite recent advances in cytology brush design, yield of endoscopic brush cytology in suspected pancreatic carcinoma remains low. METHODS: We prospectively evaluated 32 such patients by ERCP to analyze differences in yield based on anatomic location of the pancreatic stricture, and the role of concurrent biliary stricture brush cytology, in improving the overall yield. Endoscopic brush cytology was performed on all strictures following ERCP. A final diagnosis of pancreatic carcinoma was confirmed in all patients. RESULTS: Twenty-three of the 32 patients had positive cytology for pancreatic malignancy (71.9%). Eight patients had positive brushings from biliary strictures alone (25%) and 15 had positive brushings obtained from pancreatic strictures (46.9%). The yield varied widely depending on the anatomic location of the stricture; ampullary, genu, and tail regions had low rates of positive cytology, in part due to technical factors and brush design (1 of 8, 2 of 6, and 1 of 4, respectively). Strictures of the head and body yielded high rates of positive cytology (7 of 8 and 4 of 6, respectively). CONCLUSIONS: The yield of endopancreatic brush cytology is related to the location of malignancy, with overall yield enhanced by concurrent brushing of bile duct strictures.

Saline injection needle-knife sphincterotomy: a preliminary report.

BACKGROUND AND STUDY AIMS: Needle-knife sphincterotomy is an established technique in the management of some patients with biliary tract obstruction. However, the technique can be technically difficult in patients with very small papillae, specially when associated with distorted ampullary and duodenal anatomy. We present here a technique that may enhance successful needle-knife sphincterotomy in this situation. PATIENTS AND METHODS: Eight patients with biliary tract obstruction who had small papillae and distorted ampullary or duodenal anatomy were evaluated. All patients had undergone one or more unsuccessful cannulations prior to referral. All eight patients underwent saline injection of their papillae, creating a bulging papilla, prior to needle-knife sphincterotomy. RESULTS: Seven of the eight patients had successful needle-knife sphincterotomy following saline injection, and endoscopic therapy during the first attempt. In one patient, the procedure was successful at a second attempt 48 hours later. There were no instances of significant complications. CONCLUSION: Saline injection into the papilla prior to needle-knife sphincterotomy may improve success rates in patients with unusually small papillae and distorted ampullary or duodenal anatomy. However, at present this technique should only be attempted by experienced endoscopists. Further studies with larger numbers of patients are required before the safety of this technique can be fully evaluated.

Periampullary disorders: review of pathophysiology.

The ampulla of Vater is strategically located at the confluence of the terminal end of the bile duct and the pancreatic duct. It is entwined by smooth muscle fibers often referred to as the sphincter of Oddi. As a result, the ampulla demonstrates dynamic motor activity. A variety of structural and functional abnormalities can involve the ampulla and the periampullary region. Disorders involving the ampulla often produce remarkably similar clinical features, such as acute pancreatitis, biliary colic, or jaundice. Therefore, it is important that patients with periampullary disorders are systematically studied using endoscopic retrograde cholangiopancreatography, sphincter of Oddi manometry, and endoscopic ultrasonography. Common disorders involving the periampullary region and state-of-the-art techniques for diagnosis and treatment of these disorders are discussed.