Research on the collaboration between educators and medical practitioners of children with 22q11.2 deletion syndrome at schools

22q11.2 deletion syndrome (22q11.2 DS), also known as DiGeorge syndrome, or Velocardiofacial syndrome, is a disorder caused by a small amount of genetic material (DNA) missing from one of the chromosomes that are in each cell of our bodies. That tiny missing piece of the 22nd chromosome can cause a wide variety of problems that present from birth, such as defects in the heart and other organs, intellectual disabilities and learning difficulties, developmental delays and neuorodevelopmental disorders in some people, while others can go through life without realising they have it. Family members of individuals with the disorder are also likely to be affected, which is why efforts are being made to assist the families of people with 22q11.2 DS. Associate Professor Chiaki Kitamura, Faculty of Nursing, Seisen Jogakuin College, Japan, is a researcher doing just this. In particular, she wants to ensure that individuals with the disorder receive educational support from an early stage and that their family, caregivers and siblings learn about and understand 22q11.2 DS. In their project, Kitamura and her team are exploring the collaboration between educators and medical practitioners of children with 22q11.2 DS at schools. Kitamura wishes to identify a means of explaining the condition in a simple and effective manner and hopes this knowledge will improve the lives of patients and their families. As such, the team has developed a learning support guide to be used by educators and the families of 22q11.2 DS patients. The goal of the guide is to enhance the cooperation between medical care staff and educators. The researchers will disseminate the guide and facilitate understanding of the diversity of individuals with 22q11.2 DS, thereby promoting medical education.

22q11.2 deletion syndrome and schizophrenia

22q11.2 deletion is a common microdeletion that causes an array of developmental defects including 22q11.2 deletion syndrome (22q11DS) or DiGeorge syndrome and velocardiofacial syndrome. About 30% of patients with 22q11.2 deletion develop schizophrenia. Mice with deletion of the ortholog region in mouse chromosome 16qA13 exhibit schizophrenia-like abnormal behaviors. It is suggested that the genes deleted in 22q11DS are involved in the pathogenesis of schizophrenia. Among these genes, COMT, ZDHHC8, DGCR8, and PRODH have been identified as schizophrenia susceptibility genes. And DGCR2 is also found to be associated with schizophrenia. In this review, we focused on these five genes and reviewed their functions in the brain and the potential pathophysiological mechanisms in schizophrenia, which will give us a deeper understanding of the pathology of schizophrenia.

CASE REPORT : PARTIAL DIGEORGE SYNDROME PRESENTING IN ADULTHOOD

Digeorge syndrome is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations and variable penetrance. Only a few cases of adult presentation of Digeorge Syndrome have been described in the literature. It is also known as velocardiofacial syndrome or CATCH 22 syndrome. Classically abnormal facies, congenital heart disease , thymus dysplasia, cleft palate , hypocalcemia due to hypoparathyroidism are seen. Hypocalcemia is a strong predictor of digeorge syndrome whenever associated with other clinical features. Patients with chromosome 22q11.2 deletion do not always show all components of DGS. Hypoparathyroidism can be the only abnormality and may exist with no accompanying cardiac or immunologic defects. Here we report a case of 28 year old man presenting in adulthood with hypocalcemia induced tetany and diagnosed as having partial Digeorge syndrome.

Common Maternal Genetic Syndromes VI: 22q11.2 Deletion Syndrome

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome with an incidence of 1/3,000-1/4,000 live births. Common manifestations of 22q11.2DS include congenital heart defects, hypocalcemia, immune deficiency, cleft palate, cognitive deficits, and psychiatric disturbances. As childhood management of 22q11.2DS has improved, these individuals are living into adulthood and may have children of their own. Thus, it is imperative for the clinician to have an understanding of both the physical and psychiatric complications that may be seen in the adult with 22q11.2DS and how this may affect a pregnancy. Here we review the common features of 22q11.2DS in the adult and pregnancy management recommendations for the obstetrician. This review contains 4 figures, 1 tables, and 27 references. Keywords: 22q11.2 Deletion Syndrome; DiGeorge Syndrome; Velocardiofacial Syndrome; 22q11.2 Deletion Syndrome Adult; 22q11.2 Deletion Syndrome pregnancy; DiGeorge Syndrome pregnancy; DiGeorge Syndrome adult.

Use of Preoperative Cervical Vascular Imaging in Patients With Velocardiofacial Syndrome and Velopharyngeal Dysfunction in the United Kingdom

Objective: In patients with velocardiofacial syndrome (VCFS), medial displacement of the internal carotid arteries (ICAs) may increase the risk of vascular injury during the surgical correction of velopharyngeal dysfunction (VPD). Some surgeons advocate the use of vascular imaging studies prior to surgery. Nevertheless, the role of preoperative imaging is still controversial. This study aimed to review the current practice of the UK cleft units and also examine our own practice at the Evelina London Children’s Hospital in relation to children with VCFS undergoing speech surgery over the previous 7 years. Design: A questionnaire was sent to all UK cleft surgeons to enquire about the management and use of preoperative vascular imaging in patients with VPD and VCFS. A retrospective study was also conducted of the unit’s 7-year series of patients with VPD and VCFS. Results: Thirty-four completed questionnaires were returned (response rate 100%). Most UK surgeons (73.5%) do not regularly order preoperative vascular imaging for patients with VCFS although some reportedly would consider it if a posterior pharyngeal wall pulsation was visible. In our unit, between 2013 and 2019, a total of 40 patients affected by VCFS have been assessed for VPD. A magnetic resonance angiography (MRA) was performed for 23 patients. Medial deviation of the ICAs was identified in 7 (30%) patients. Conclusions: The results of the national survey showed no consensus on routine use of preoperative vascular imaging. Our retrospective study showed a 30% prevalence of medialized ICAs in our patient cohort. In these patients, the MRA findings influenced the choice of speech surgery.