American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献_第5页

Psychopharmacological treatments in Down syndrome and autism spectrum disorder: State of the research and practical considerations. 唐氏综合征和自闭症谱系障碍的心理药理学治疗：研究现状和实践考虑。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-23 DOI: 10.1002/ajmg.c.32069

Nicole T Baumer, George Capone

引用次数: 0

Children with Down syndrome who experience developmental skill loss, characterization, and phenomenology: A case series. 经历发育技能丧失的唐氏综合症儿童，特征和现象:一个病例系列。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-01 Epub Date: 2023-11-16 DOI: 10.1002/ajmg.c.32077

Susana Bernad-Ripoll, Meghan O'Neill, George T Capone

引用次数: 0

Normal joint range of motion in children with Down syndrome. 唐综合征患儿关节活动范围正常。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-01 Epub Date: 2023-11-02 DOI: 10.1002/ajmg.c.32076

Jordan T Jones, Nasreen Talib, Emily Cramer, Meg E Gasparovich, Elizabeth N Schroeder, Matthew McLaughlin, Jacqueline Kitchen

{"title":"Normal joint range of motion in children with Down syndrome.","authors":"Jordan T Jones, Nasreen Talib, Emily Cramer, Meg E Gasparovich, Elizabeth N Schroeder, Matthew McLaughlin, Jacqueline Kitchen","doi":"10.1002/ajmg.c.32076","DOIUrl":"10.1002/ajmg.c.32076","url":null,"abstract":"Down syndrome (DS) is one of the most common chromosomal conditions that results in intellectual disability. Children with DS have many different inflammatory and noninflammatory conditions that can affect joint mobility leading to arthralgia and altered joint range of motion (ROM), and it is important to have normal reference values for comparison to determine the degree of impairment. The objective of this study was to establish normative joint ROM values, using a standardized measurement approach, for upper and lower joints of healthy children of both genders with DS. This study evaluated joint ROM in healthy males and females with DS who had no previous musculoskeletal pathology. Younger males have more ROM than females at the same age and both genders lose ROM with age but continue to have increased ROM in the ankles compared to children without DS. This study establishes optimal estimates of joint ROM in children with DS, and this information should be helpful to clinicians when assessment requires evaluation of joint ROM to know if evaluation falls within the normal ROM. This reference should be helpful to track joint disease progression over time or as part of a musculoskeletal screen for abnormal joint ROM in children with DS.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71419670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome. 唐氏综合征患儿的眼科和神经眼科表现。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-04 DOI: 10.1002/ajmg.c.32068

Aarushi Jain, Natalie K Boyd, Kelli C Paulsen, Benjamin N Vogel, Lina Nguyen, Jonathan D Santoro

引用次数: 0

Co-occurring conditions in Down syndrome: Findings from a clinical database. 唐氏综合征并发疾病：临床数据库的研究结果。

IF 2.8 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-24 DOI: 10.1002/ajmg.c.32072

Nicole T Baumer, Margaret A Hojlo, Katherine G Pawlowski, Anna L Milliken, Angela M Lombardo, Sabrina Sargado, Cara Soccorso, Emily J Davidson, William J Barbaresi

{"title":"Co-occurring conditions in Down syndrome: Findings from a clinical database.","authors":"Nicole T Baumer, Margaret A Hojlo, Katherine G Pawlowski, Anna L Milliken, Angela M Lombardo, Sabrina Sargado, Cara Soccorso, Emily J Davidson, William J Barbaresi","doi":"10.1002/ajmg.c.32072","DOIUrl":"10.1002/ajmg.c.32072","url":null,"abstract":"Individuals with Down syndrome (DS) experience a range of medical and neurodevelopmental conditions, necessitating systematic study of their occurrence and impact on neurodevelopmental outcomes. We describe the prevalence and relationships of medical, neurodevelopmental (ND), and mental health (MH) conditions in children with DS. We created a prospective clinical database of individuals with DS, integrated into the workflow of a specialty Down Syndrome Program at a specialty pediatric referral hospital. Conditions were collected through caregiver- and clinician report at clinical visits (N = 599). We calculated frequencies of medical, ND, and MH conditions and then assessed the relationship between medical, ND, and MH conditions using frequencies and comparative statistics. The most frequent co-occurring conditions were vision (72.5%), ear/hearing (71.0%), gastrointestinal (61.3%), respiratory (45.6%), and feeding (33.6%) problems, with variation in frequency by age. ND and MH conditions were reported in one quarter, most commonly autism spectrum disorder and attention-deficit/hyperactivity disorder. Those with ND and MH conditions had greater frequency of medical conditions, with highest rates of vision, ear/hearing, and gastrointestinal issues, and CHD. Systematically collected clinical data in a large cohort of children with DS reveals high prevalence of several co-occurring medical, ND, and MH conditions. Clinical care requires an understanding of the complex relationship between medical conditions and neurodevelopment.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49688351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome 唐氏综合症患者护理人员的医疗保健满意度和医学知识习惯。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-11-09 DOI: 10.1002/ajmg.c.32074

Heidi Berger, Jill Wittman, Katelyn Smith, Nora Horick, Kenneth Norris, Allison Young, Javier Magana Gomez, Kenia Kristel Esparza Ocampo, Brian G. Skotko

{"title":"Health care satisfaction and medical literacy habits among caregivers of individuals with Down syndrome","authors":"Heidi Berger, Jill Wittman, Katelyn Smith, Nora Horick, Kenneth Norris, Allison Young, Javier Magana Gomez, Kenia Kristel Esparza Ocampo, Brian G. Skotko","doi":"10.1002/ajmg.c.32074","DOIUrl":"10.1002/ajmg.c.32074","url":null,"abstract":"Patients with Down syndrome have significant specialized health care needs. Our objective was to understand the needs, satisfaction, and online habits of caregivers as they care for persons with Down syndrome. A mixed-method survey was distributed through REDCap from April 2022 to June 2022 in the United States; a Spanish-translated version was distributed through SurveyMonkey from August 2022 to March 2023 in Mexico. We received 290 completed responses from the United States and 58 from caregivers in Mexico. We found that current health care options are not meeting the needs of many individuals with DS in both the United States (39.7%) and Mexico (46.6%). Caregivers expressed frustrations with the inaccessibility and inapplicability of health care information. In particular, they often found the volume of information overwhelming, given their limited medical background. Additionally, health care recommendations were not customized and lacked practical recommendations. Most caregivers in both the United States (72.1%) and Mexico (82.8%) believe it is not easy to find answers to medical questions about their loved ones with DS. Online platforms with customized, specific health information related to DS could offer innovative solutions to these unmet needs for families and primary care providers.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72013060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Family adaptation in families of individuals with Down syndrome from 12 countries 来自12个国家的唐氏综合症患者家庭的家庭适应。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-11-06 DOI: 10.1002/ajmg.c.32075

Marcia Van Riper, George J. Knafl, Kathleen A. Knafl, Maria do Céu Barbieri-Figueiredo, Sivia Barnoy, Maria Caples, Hyunkyung Choi, Beth Cosgrove, Elysângela Dittz Duarte, Junko Honda, Elena Marta, Supapak Phetrasuwan, Sara Alfieri, Margareth Angelo, Wannee Deoisres, Louise Fleming, Aline Soares dos Santos, Maria João Rocha da Silva

{"title":"Family adaptation in families of individuals with Down syndrome from 12 countries","authors":"Marcia Van Riper, George J. Knafl, Kathleen A. Knafl, Maria do Céu Barbieri-Figueiredo, Sivia Barnoy, Maria Caples, Hyunkyung Choi, Beth Cosgrove, Elysângela Dittz Duarte, Junko Honda, Elena Marta, Supapak Phetrasuwan, Sara Alfieri, Margareth Angelo, Wannee Deoisres, Louise Fleming, Aline Soares dos Santos, Maria João Rocha da Silva","doi":"10.1002/ajmg.c.32075","DOIUrl":"10.1002/ajmg.c.32075","url":null,"abstract":"Our current understanding of adaptation in families of individuals with Down syndrome (DS) is based primarily on findings from studies focused on participants from a single country. Guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation, the purpose of this cross-country investigation, which is part of a larger, mixed methods study, was twofold: (1) to compare family adaptation in 12 countries, and (2) to examine the relationships between family variables and family adaptation. The focus of this study is data collected in the 12 countries where at least 30 parents completed the survey. Descriptive statistics were generated, and mean family adaptation was modeled in terms of each predictor independently, controlling for an effect on covariates. A parsimonious composite model for mean family adaptation was adaptively generated. While there were cross-country differences, standardized family adaptation mean scores fell within the average range for all 12 countries. Key components of the guiding framework (i.e., family demands, family appraisal, family resources, and family problem-solving communication) were important predictors of family adaptation. More cross-country studies, as well as longitudinal studies, are needed to fully understand how culture and social determinants of health influence family adaptation in families of individuals with DS.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71477036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome 唐氏综合征多学科临床的儿科综合护理调查（PICS）。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-10-31 DOI: 10.1002/ajmg.c.32067

Shri Karri, Ayesha Harisinghani, Clorinda Cottrell, Stephanie L. Santoro

{"title":"The Pediatric Integrated Care Survey (PICS) in a multidisciplinary clinic for Down syndrome","authors":"Shri Karri, Ayesha Harisinghani, Clorinda Cottrell, Stephanie L. Santoro","doi":"10.1002/ajmg.c.32067","DOIUrl":"10.1002/ajmg.c.32067","url":null,"abstract":"The Pediatric Integrated Care Survey (PICS) is validated for use to measure the caregiver reported experience of integration and efficiency of all the aspects of their child. We began using the PICS survey to track changes in the patient experience, including throughout changing models of care during the COVID-19 pandemic. From February 2019 to June 2023, 62 responses from caregivers of individuals seen in the Massachusetts General Hospital Down Syndrome Program completed the PICS. Responses were scored using the standardized PICS user manual, and descriptive statistics were completed. The raw scores and composite monthly scores of the PICs were graphed in statistical process control charts. The average PICS score was 12.0 (range 2–19) out of a maximum score of 19; no shifts or trends were seen. Items with lowest scores indicated greatest opportunities for improvement related to: advice from other care team members, impact of decisions on the whole family, things causing stress or making it hard because of child's health, and offering opportunities to connect with other families. Studying the PICS in a specialty clinic for Down syndrome for the first time has established a baseline for future quality improvement work and interventions to increase care integration.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":null,"pages":null},"PeriodicalIF":3.1,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71410170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Brief report: Physical activity assessment and counseling in adults with Down syndrome 简要报告：唐氏综合征成人的体育活动评估和咨询。

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-10-05 DOI: 10.1002/ajmg.c.32066

Ayesha Harisinghani, Amy Torres, Nicolas M. Oreskovic

引用次数: 0

Cover Image, Volume 193, Number 3, September 2023 封面图片，第193卷，第3期，2023年9月

IF 3.1 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-09-30 DOI: 10.1002/ajmg.c.31982

Swaroop Aradhya, Flavia M. Facio, Hillery Metz, Toby Manders, Alexandre Colavin, Yuya Kobayashi, Keith Nykamp, Britt Johnson, Robert L. Nussbaum

引用次数: 0