Participatory development of a patient –clinician communication tool to enhance healthcare transitions for young people with 22q11.2

ConclusionsThere is a recognised need to strengthen transition pathways. This is especially true in this at risk group, given the poorer outcomes associated with transitions in youth with ID along with the additive effect of medical and mental health and learning difficulties that often co-occur in 22q11.2ds. A patient –clinician communication tool, designed by participants, offers a pragmatic approach to optimise healthcare transitions, support continuity of healthcare and personal autonomy.
Source: Irish Journal of Medical Science - Category: General Medicine Source Type: research

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The 22 q11.2 deletion syndrome, also known as DiGeorge syndrome, is the subject of the loss of a submicroscopic segment of DNA in the 22 q11.2 region. It presents a great variability of clinical characteristics in affected individuals. Among the clinical manifestations are fissure of the palate, nasal speech, cardiovascular problems, and dysmorphic facial features. This case report describes a 15-year-old girl, clinically diagnosed as having DiGeorge syndrome, who attended a dental service for patients with special needs presenting with malocclusion, difficulty in chewing, and suspected heart disease.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Source Type: research
CONCLUSION: This is the first observation of a heterozygous mutation in the MBD5 gene associated with a neuronal migration disorder. PMID: 31820818 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research
In this study, we performed an extensive assessment of the value of CMA for the diagnosis of children with ID/DD in China. Methods: A total of 633 patients diagnosed with DD/ID in West China Second University Hospital, Sichuan University, were recruited from January 2014 to March 2019. The patients were classified into 4 subgroups: isolated DD/ID, DD/ID with multiple congenital anomalies (MCA), isolated autism spectrum disorders (ASDs), and DD/ID with epilepsy. CMA was performed on Affymetrix 750K platform. Results: Among the 633 patients, 127 cases were identified as having pathogenic copy number variations (pCN...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
We present a patient with 17q12 deletion syndrome with significant atopy.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Source Type: research
American Journal on Intellectual and Developmental Disabilities,Volume 124, Issue 6, Page 549-567, November 2019.
Source: American Journal on Intellectual and Developmental Disabilities - Category: Disability Authors: Source Type: research
Publication date: Available online 21 October 2019Source: Stem Cell ResearchAuthor(s): T.A. Shnaider, I.E. Pristyazhnyuk, A.G. Menzorov, N.M. Matveeva, A.A Khabarova, N.A. Skryabin, A.A. Kashevarova, M.E. Lopatkina, L.P. Nazarenko, I.N. Lebedev, O.L. SerovAbstractThe human induced pluripotent stem cell (iPSC) lines, ICGi009-A, ICGi009-B, ICGi013-A and ICGi013-B, were generated from skin fibroblasts of two siblings with intellectual disability. Both patients were carriers of CNTN6 gene microdeletion(Kashevarova et al., 2014). iPSC lines have normal karyotype, express pluripotency markers, are able to differentiate in vitro ...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
ConclusionThis is the first case with aPTCH1 point mutation with a 9q22.3 microdeletion syndrome phenotype. This finding may strengthen the importance of the role of thePTCH1, especially regarding the metopic craniosynostosis.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
We describe a male patient who matches the phenotype and contributes to defining a narrow phenocritical region at Xp11.22. We propose that GSPT2 loss-of-function might be the probable cause of the phenotypic features seen in these patients. PMID: 31555424 [PubMed]
Source: Oman Medical Journal - Category: Middle East Health Tags: Oman Med J Source Type: research
We describe the clinical features of a four-year-old male child with a 139 kb deletion at 7p22.3 involving SNX8 gene, inherited from a mosaic mother. The same deletion is also present in the fetus on the ongoing third pregnancy of the couple with normal fetal ultrasound assessment. The proband was prenatally diagnosed with left kidney agenesis. He does not show any congenital heart disease, but mild intellectual disability, learning and language delay, and severe behavioral problems related to the hyperactive-impulsive and inattentive area. These clinical features are also evident in other 7p22 deletions cases involving ...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
We present the case of a young adult harboring this recurrent deletion, in a context of intellectual disability, ventricular septal defect and severe juvenile polyposis syndrome diagnosed at the age of 25 years, requiring a surgical preventive colectomy. She developed a gastric adenocarcinoma from which she died at the age of 32. We hypothesize that with the current available pangenomic CNV arrays, the diagnosis of 10q22.3q23.1 deletion is often made several years before the onset of the digestive phenotype, which could explain the absence of reports for juvenile polyps. This observation highlights the importance of an act...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
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