American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献

{"title":"Brief report: Physical activity assessment and counseling in adults with Down syndrome","authors":"Ayesha Harisinghani,&nbsp;Amy Torres,&nbsp;Nicolas M. Oreskovic","doi":"10.1002/ajmg.c.32066","DOIUrl":"10.1002/ajmg.c.32066","url":null,"abstract":"<p>Adults with Down syndrome are at an increased risk for developing certain medical conditions, which can be further exacerbated by lower levels of physical activity. Physician counseling can provide a supportive environment to encourage modes of physical activity accessible to patients and caregivers. While some adults with Down syndrome have access to a Down syndrome specialty clinic, most are followed only by a primary care physician. This report includes adult patients with Down syndrome followed at a Down syndrome specialty clinic in Boston and compares physical activity assessment and counseling rates by Down syndrome specialists and primary care physicians. Patients were more likely to have physical activity assessment and counseling performed by a Down syndrome specialist than by a primary care physician. A better understanding of the barriers primary care physicians caring for adults with Down syndrome experience related to physical activity counseling could help improve important health habit counseling in this high-risk population.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41099992","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}

{"title":"Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome","authors":"Aarushi Jain,&nbsp;Natalie K. Boyd,&nbsp;Kelli C. Paulsen,&nbsp;Benjamin N. Vogel,&nbsp;Lina Nguyen,&nbsp;Jonathan D. Santoro","doi":"10.1002/ajmg.c.32068","DOIUrl":"10.1002/ajmg.c.32068","url":null,"abstract":"<p>Down syndrome, also known as Trisomy 21, is a genetic disorder associated with mild-to-moderate intellectual disability, delays in growth, and characteristic facial features. A wide range of ocular complications are seen in children with Down syndrome, including strabismus, nystagmus, refractive errors, congenital cataracts, the presence of keratoconus, and decreased visual acuity. Early ophthalmic examination is needed for early diagnosis and treatment in patients. This narrative review examines ocular manifestations in children with Down syndrome and the importance of prompt ophthalmic interventions for treatment.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"193 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2023-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32068","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41100893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cover Image, Volume 193, Number 3, September 2023","authors":"Swaroop Aradhya,&nbsp;Flavia M. Facio,&nbsp;Hillery Metz,&nbsp;Toby Manders,&nbsp;Alexandre Colavin,&nbsp;Yuya Kobayashi,&nbsp;Keith Nykamp,&nbsp;Britt Johnson,&nbsp;Robert L. Nussbaum","doi":"10.1002/ajmg.c.31982","DOIUrl":"https://doi.org/10.1002/ajmg.c.31982","url":null,"abstract":"<p><b>Cover legend: Aradhya etal., Am J Med Genet C Semin Med Genet 2023,</b> 10.1002/ajmg.c.32057<b>.</b>\u0000 \u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure></p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"193 3","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.31982","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50148803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Publication schedule for 2023","authors":"","doi":"10.1002/ajmg.c.31981","DOIUrl":"https://doi.org/10.1002/ajmg.c.31981","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"193 3","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.31981","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50148805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Table of Contents, Volume 193, Number 3, September 2023","authors":"","doi":"10.1002/ajmg.c.31980","DOIUrl":"https://doi.org/10.1002/ajmg.c.31980","url":null,"abstract":"","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"193 3","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.31980","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50148804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond chromosome analysis: Additional genetic testing practice in a Down syndrome clinic","authors":"Ayesha Harisinghani,&nbsp;Gabriella Raffaele,&nbsp;Carrie Blout Zawatsky,&nbsp;Stephanie L. Santoro","doi":"10.1002/ajmg.c.32063","DOIUrl":"10.1002/ajmg.c.32063","url":null,"abstract":"<p>Down syndrome (DS) and other genetic conditions have been reported to co-occur in the same person. This study sought to examine the genetic evaluation beyond chromosome analysis of individuals with DS at one DS specialty clinic. Retrospective chart review of genetic testing performed beyond chromosome analysis, the indication for the genetic testing, and the result of the genetic testing from the electronic health record was performed. Demographic information was collected and summary statistics, including mean and frequency, were calculated. The charts of 637 individuals with DS were reviewed. Overall, 146 genetic tests in addition to routine chromosome analysis were performed on 92 individuals with DS. Tests included chromosomal microarray, gene panels, and whole exome sequencing. Tests were performed for the indication of: autism spectrum disorder, celiac disease, dementia, hematologic diseases, and others. Eleven individuals with DS were found to have a second genetic diagnosis. Individuals with DS in one multidisciplinary clinic for DS had a variety of genetic tests beyond chromosomes completed, for varied indications, and with some abnormal results leading to additional diagnoses. Additional genetic testing beyond chromosome analysis is a reasonable consideration for patients with DS who have features suggestive of a secondary diagnosis.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"193 4","pages":""},"PeriodicalIF":2.8,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41099957","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}

{"title":"Healthy transition: Roadmap for young adults with Down syndrome to adulthood","authors":"Maya Weaver,&nbsp;Andrew McCormick","doi":"10.1002/ajmg.c.32065","DOIUrl":"10.1002/ajmg.c.32065","url":null,"abstract":"<p>Healthcare transition is the purposeful and planned process for preparing young adults with Down syndrome for an adult oriented healthcare system. Significant gaps of a delayed, incomplete, siloed and decentered transition can be avoided when transition is approached in a longitudinal and holistic manner. Young adults with Down syndrome are specifically vulnerable to these gaps as the combination of intellectual differences and healthcare complexity leads to the need for a process that allows for appropriate preparation to develop the skills and process for an appropriate. To establish a successful transition care plan, the six core elements of policy, tracking, readiness, planning, transfer of care, and complete transition will compose the scaffolding of the transition process and address these gaps in care. A comprehensive tool kit including policy statements, healthcare transition tracking forms, the TRAQ tool, and template portable medical summaries will operationalize those elements and counteract any gaps in the transition process.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41097426","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}

{"title":"Sustainability of personal social networks of people with Down syndrome","authors":"Ayesha Harisinghani,&nbsp;Amar Dhand,&nbsp;Ellen Hollands Steffensen,&nbsp;Brian G. Skotko","doi":"10.1002/ajmg.c.32064","DOIUrl":"10.1002/ajmg.c.32064","url":null,"abstract":"<p>Research continues to demonstrate that the characteristics of one's social network could have an impact on the development of Alzheimer's disease. Given the predisposition of people with Down syndrome to develop Alzheimer's disease, analysis of their social networks has become an emerging focus. Previous pilot research demonstrated that the personal networks of people with DS could be quantitatively analyzed, with no difference between self-report and parent-proxy report. This manuscript focuses on a 12-month follow-up period with the same original participants (24 adults with Down syndrome). Their social networks demonstrated sustainability, but not improvement, as reported by people with DS (mean network size: 8.88; mean density: 0.73; mean constraint: 0.44; mean effective size: 3.58; mean max degree: 6.04; mean degree: 4.78) and their proxies (mean network size: 7.90; mean density: 0.82; mean constraint: 53.13; mean effective size: 2.87; mean max degree: 5.19; mean degree: 4.30). Intentional and continued efforts are likely needed in order to improve the social network measures of people with Down syndrome.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"196 1","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41098089","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}

{"title":"Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant","authors":"Caitlin Forwood,&nbsp;Katie Ashton,&nbsp;Ying Zhu,&nbsp;Futao Zhang,&nbsp;Kerith-Rae Dias,&nbsp;Krystle Standen,&nbsp;Carey-Anne Evans,&nbsp;Louise Carey,&nbsp;Michael Cardamone,&nbsp;Carolyn Shalhoub,&nbsp;Hala Katf,&nbsp;Carlos Riveros,&nbsp;Tzung-Chien Hsieh,&nbsp;Peter Krawitz,&nbsp;Peter N Robinson,&nbsp;Tracy Dudding-Byth,&nbsp;Bekim Sadikovic,&nbsp;Jason Pinner,&nbsp;Michael F. Buckley,&nbsp;Tony Roscioli","doi":"10.1002/ajmg.c.32056","DOIUrl":"10.1002/ajmg.c.32056","url":null,"abstract":"<p>Heterozygous <i>ARID1B</i> variants result in Coffin–Siris syndrome. Features may include hypoplastic nails, slow growth, characteristic facial features, hypotonia, hypertrichosis, and sparse scalp hair. Most reported cases are due to <i>ARID1B</i> loss of function variants. We report a boy with developmental delay, feeding difficulties, aspiration, recurrent respiratory infections, slow growth, and hypotonia without a clinical diagnosis, where a previously unreported <i>ARID1B</i> missense variant was classified as a variant of uncertain significance. The pathogenicity of this variant was refined through combined methodologies including genome-wide methylation signature analysis (EpiSign), Machine Learning (ML) facial phenotyping, and LIRICAL. Trio exome sequencing and EpiSign were performed. ML facial phenotyping compared facial images using FaceMatch and GestaltMatcher to syndrome-specific libraries to prioritize the trio exome bioinformatic pipeline gene list output. Phenotype-driven variant prioritization was performed with LIRICAL. A de novo heterozygous missense variant, <i>ARID1B</i> p.(Tyr1268His), was reported as a variant of uncertain significance. The ACMG classification was refined to likely pathogenic by a supportive methylation signature, ML facial phenotyping, and prioritization through LIRICAL. The <i>ARID1B</i> genotype–phenotype has been expanded through an extended analysis of missense variation through genome-wide methylation signatures, ML facial phenotyping, and likelihood-ratio gene prioritization.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"193 3","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10185760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is artificial intelligence getting too much credit in medical genetics?","authors":"Imen F. Alkuraya","doi":"10.1002/ajmg.c.32062","DOIUrl":"10.1002/ajmg.c.32062","url":null,"abstract":"<p>Artificial intelligence has lately proven useful in the field of medical genetics. It is already being used to interpret genome sequences and diagnose patients based on facial recognition. More recently, large-language models (LLMs) such as ChatGPT have been tested for their capacity to provide medical genetics information. It was found that ChatGPT performed similarly to human respondents in factual and critical thinking questions, albeit with reduced accuracy in the latter. In particular, ChatGPT's performance in questions related to calculating the recurrence risk was dismal, despite only having to deal with a single disease. To see if challenging ChatGPT with more difficult problems may reveal its flaws and their bases, it was asked to solve recurrence risk problems dealing with two diseases instead of one. Interestingly, it managed to correctly understand the mode of inheritance of recessive diseases, yet it incorrectly calculated the probability of having a healthy child. Other LLMs were also tested and showed similar noise. This highlights a major limitation for clinical use. While this shortcoming may be solved in the near future, LLMs may not be ready yet to be used as an effective clinical tool in communicating medical genetics information.</p>","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":"193 3","pages":""},"PeriodicalIF":3.1,"publicationDate":"2023-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajmg.c.32062","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10037257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}