Materiały źródłowe

• #1 22q11.2 Deletion Syndrome: The Most Common Microdeletion Syndrome

  https://www.natera.com/resource-library/panorama/22q11-2-deletion-syndrome-the-most-common-microdeletion-syndrome/

  22q11.2 deletion syndrome can involve many developmental, medical, and learning conditions, including: Heart defects, An underactive thyroid gland, which can cause delayed growth and impaired bone development or immune function and frequent infections, Autoimmune disorders, Cleft palate, Gastrointestinal problems and difficulty gaining weight, Breathing difficulties, Muscle weakness, Missing infant developmental milestones, Hearing impairment, Delayed speech, Learning difficulties, Behavioral and mental health difficulties. […] While 22q11.2 deletion syndrome cannot be cured, early treatments can greatly improve a child’s health and quality of life. […] A tailored treatment plan starting at birth can make a big difference in a child’s growth and health. […] Early detection of 22q11.2 deletion syndrome can help parents and their baby’s healthcare team prepare to provide targeted care shortly after birth. […] Complex conditions like 22q11.2 deletion syndrome often require a multidisciplinary team of healthcare professionals to manage the range of potential problems associated with 22q11.2 deletion syndrome.

• #2 Practical guidelines for managing adults with 22q11.2 deletion syndrome | Genetics in Medicine

  https://www.nature.com/articles/gim2014175

  22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. […] We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities. […] The existing clinical practice guidelines for 22q11.2DS are focused primarily on children. […] We therefore present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues pertinent to adults with 22q11.2DS. […] The available data support the likelihood that all associated conditions in 22q11.2DS respond similarly to the idiopathic forms of these conditions, that is, to standard management strategies and treatments, whether surgical or medical.

• #3 DiGeorge syndrome (22q11.2 deletion syndrome) – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/diagnosis-treatment/drc-20353548

  A diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome) is based primarily on a lab test that can detect the deletion in chromosome 22. Your child’s healthcare professional likely will order this test if your child has: […] Although there is no cure for DiGeorge syndrome (22q11.2 deletion syndrome), treatments usually can correct critical problems, such as a heart problem or cleft palate. Other health issues, as well as developmental, mental health or behavioral problems, can be dealt with or watched as needed. […] Because 22q11.2 deletion syndrome can lead to so many problems, several specialists likely will help diagnose specific conditions, recommend treatments and provide care. This team will change as your child’s needs change. […] Having a child with DiGeorge syndrome (22q11.2 deletion syndrome) is challenging. You could be dealing with multiple health issues and treatments. To help meet your child’s and your own needs, ask the healthcare team about organizations that provide educational materials, support groups and other resources for parents of children with 22q11.2 deletion syndrome.

• #4 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549798/

  DiGeorge syndrome (DGS) is a congenital disorder with a broad phenotypic presentation, which results predominantly from the microdeletion of chromosome 22 at a location known as 22q11.2. […] This activity outlines the diagnosis, evaluation, treatment, and management of patients with DGS, and highlights the role of the interprofessional team in managing patients with this condition. […] Treatment and management of DGS require intensive interprofessional care: […] Fortunately, many patients with DGS have minor immunodeficiency, with preservation of T cell function despite decreased T cell production. […] Frequent follow-up with an immunologist experienced in treating primary immunodeficiencies is advisable. […] Immunization, boosters, intravenous immunoglobulin, and antibiotic prophylaxis regimens should revolve around the individual patient’s laboratory values.

• #5 22q11.2 Deletion Syndrome (DiGeorge Syndrome) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/22q11-deletion.html

  22q11.2 deletion syndrome is a genetic condition that some babies are born with. […] 22q11.2 deletion syndrome can affect many different systems in the body. […] Some children may need surgery soon after birth to fix problems related to their heart, breathing, or feeding. All children with 22q need regular visits with a team of specialists to do routine checks. […] If your child has 22q: Find a team that specializes in 22q. […] Go to all medical visits. Take your child to all scheduled checkups and any follow-up visits with specialists. […] Set up therapy care when needed. Help your child build and strengthen life skills. Set up speech therapy and physical therapy visits, or other care that doctors and nurses recommend. […] Connect with others for support and awareness. Join a 22q support group to find other parents who share similar experiences.

• #6 DiGeorge syndrome (22q11.2 deletion syndrome)

  https://www.mymlc.com/health-information/diseases-and-conditions/d/digeorge-syndrome-22q11.2-deletion-syndrome/?section=Overview

  Because 22q11.2 deletion syndrome can result in so many problems, several specialists will likely be involved in diagnosing specific conditions, recommending treatments and providing care. This team will evolve as your child’s needs change. Specialists on your care team may include these professionals and others, as needed: Children’s health specialist (pediatrician), Expert in inherited disorders (geneticist), Heart specialist (cardiologist), Immune system specialist (immunologist), Ear, nose and throat (ENT) specialist, Infectious disease specialist, Hormone disorder specialist (endocrinologist), Surgeon who specializes in correcting such conditions as a cleft palate (oral and maxillofacial surgeon), Surgeon who specializes in correcting heart defects (cardiovascular surgeon), Occupational therapist to help develop practical, everyday skills, Speech therapist to help improve verbal skills and articulation, Developmental therapist to help develop age-appropriate behaviors, social skills and interpersonal skills, Mental health professional, such as a pediatric psychiatrist or psychologist.

• #7 DiGeorge Syndrome Diagnosis & Treatment | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/genetic-syndromes/digeorge-syndrome-22q112-deletion-syndrome

  Every babys situation is different, and the Cardinal Glennon St. Louis Fetal Care Institute works with each family to prepare for their babys delivery and to create a specialized care plan to follow after birth. […] Children with the condition will benefit from the care of a multidisciplinary medical team, which may include: Pediatricians, Medical geneticists, Surgeons, Cardiologists, Endocrinologists, Speech pathologists, Otolaryngologists, Ophthalmologists, Psychologists, Occupational therapists, Other healthcare professionals. […] After delivery, the Complex Medical Care program at SSM Health Cardinal Glennon Childrens Hospital can help with the medical care process by collaborating with all these health care providers to help ensure continuity of care.

• #8 DiGeorge Syndrome (deletion 22q11.2; Velo-Cardio-Facial Syndrome; thymic hypoplasia; CATCH 22) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/digeorge-syndrome-deletion-22q11-2-velo-cardio-facial-syndrome-thymic-hypoplasia-catch-22/

  Deletion 22q11.2 affects multiple systems. Heart defects occur in 76 percent of patients. Major heart defects, including tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, truncus arteriosus, vascular rings, and other more common heart defects, may be present. […] Feeding difficulties are common occurring in over half of patients, independent of palatal anomalies. Gastroesophageal reflux and intestinal dysmotility may be sufficiently severe to require nasogastric tube feeding or, eventually, gastrostomy tube placement. […] Treatment is directed to the specific systemic abnormalities as it would be addressed in any affected individual with similar abnormalities. Medical treatment requires calcium supplements for hypocalcemia. Infections are treated aggressively in those with immunodeficiency. Rarely, intravenous immune globulin or prophylactic antibiotics are required.

• #9 22q deletion Syndrome (DiGeorge syndrome, VCFS) – Children’s Health

  https://www.childrens.com/specialties-services/conditions/22q-deletion

  The 22q Team Program at Childrens Health is the first of its kind in North Texas, providing multidisciplinary care to patients with 22q Deletion Syndrome (DiGeorge Syndrome, VCFS). […] Although there is no cure for 22q deletion syndrome (DiGeorge syndrome, VCFS), the treatments below can help manage the problems associated with it. Early childhood intervention programs are very important. Children should have formal speech, occupational and physical therapy evaluations. […] Heart defects can be addressed by cardiac surgeries, and your child will then follow up with the cardiologist on a regular basis. […] Cleft palate surgery may be an option to help with hypernasality in speech or velopharyngeal incompetence. […] T-cell deficiency may or may not require treatment. Recommendations may be provided on how to protect your child from infectious exposures, and treatments may include antibiotics and/or immunoglobulin therapy to prevent infections.

• #10 DiGeorge Syndrome (deletion 22q11.2; Velo-Cardio-Facial Syndrome; thymic hypoplasia; CATCH 22) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/digeorge-syndrome-deletion-22q11-2-velo-cardio-facial-syndrome-thymic-hypoplasia-catch-22/

  Individuals with deletion 22q11.2 should be evaluated and followed by a multidisciplinary team of genetics, cardiology, child development, immunology, neurology, and other learning support systems. […] In the neonatal period, detection of a congenital heart defect requires immediate evaluation and, if necessary, intervention. Echocardiogram is essential for all patients with deletion 22q11.2 syndrome. […] Assessment of serum calcium concentration and absolute lymphocyte count establishes baseline values for ongoing evaluation. Low serum calcium concentration requires calcium supplementation. […] Low absolute lymphocyte count necessitates evaluation of T and B cell subsets and referral to an immunologist. Infants and children with lymphocyte abnormalities should not be immunized with live vaccines (oral polio, MMR). The immune status should be evaluated on an ongoing basis.

• #11 22q Deletion Syndrome (DiGeorge Syndrome, VCFS) Team Program – Children’s Health

  https://www.childrens.com/specialties-services/specialty-centers-and-programs/plastic-craniofacial-surgery/programs-and-services/22q-team-clinic

  Children with 22q deletion syndrome (DiGeorge syndrome, VCFS) often have problems with speech. This can be due to a cleft of the palate, which would require surgical repair by a plastic surgeon, or due to difficulty coordinating the palate, tongue and lips during speech. […] Children with 22q deletion syndrome (DiGeorge syndrome, VCFS) often have an associated immunodeficiency. This is caused by problems with the thymus, a tissue in the body where important immune cells called T-cells are made. The severity of this immune deficiency is variable sometimes very mild, and only rarely severe. The multidisciplinary team includes immunologists who will evaluate your child’s immune system to determine the severity of this T-cell deficiency. […] The care team will regularly check in about your child’s behavior at home and school. If there are concerns, a neuropsychologist or psychiatrist will evaluate your child and recommend appropriate therapies.

• #12 DiGeorge Syndrome Treatment & Management: Approach Considerations, Transfusion and Immunization in Immunodeficient Patients, Management of Hypoparathyroidism and Hypocalcemia

  https://emedicine.medscape.com/article/886526-treatment

  A multidisciplinary team best cares for individuals with 22q11.2DS; however, one physician (usually the primary physician) must take the lead and provide a medical home for the patient. The primary physician also must monitor growth and development. A system-by-system approach results in the best outcome. […] Management of 22q11.2DS includes the following: Calcium supplementation: For hypoparathyroidism-associated hypocalcemia; vitamin D supplementation may also be needed. Surgery: Cardiovascular surgery, cleft palate repair, and, for congenital anterior glottic webs, tracheotomy or surgical reconstruction. Immunodeficiency: Therapies include thymus transplantation (allogeneic processed thymus tissue [Rethymic]) and adoptive transfer of mature T cells (ATMTC) for individuals with complete DiGeorge syndrome and appropriate prophylaxis measures and monitoring autoimmune complications for incomplete or partial DiGeorge syndrome.

• #13 DiGeorge Syndrome Treatment & Management: Approach Considerations, Transfusion and Immunization in Immunodeficient Patients, Management of Hypoparathyroidism and Hypocalcemia

  https://emedicine.medscape.com/article/886526-treatment

  The utmost care must be taken to avoid the use of nonirradiated blood products in patients with 22q11.2DS. In the presence of significant T-cell defects, transfusions with nonirradiated blood may prove fatal secondary to a graft versus host response initiated by donor lymphocytes contaminated in blood products. If a blood transfusion is necessary in infancy, use only cytomegalovirus-negative, irradiated blood products. […] Obtain a serum calcium level at diagnosis and repeat at ages 1-5, 6-11, 12-18, and over 18 years. If the patient is found to be hypocalcemic, begin calcium supplementation after proper tests (simultaneous serum calcium and serum parathyroid hormone [PTH] levels) are performed. Vitamin D supplementation may become necessary. […] The FDA approved the first therapy, allogeneic processed thymus tissue (Rethymic), to reconstitute immunity in children with congenital athymia in October 2021.

• #14

  https://omim.org/entry/188400

  DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. […] DiGeorge syndrome is characterized by neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells. The immune deficit is caused by hypoplasia or aplasia of the thymus gland. […] Calcium supplements and 1,25-cholecalciferol may be needed to treat hypocalcemia. Thymic transplantation has been employed though this is difficult to assess since children tend to improve with age. […] Any affected child undergoing major surgery should have a supply of irradiated blood to avoid graft-versus-host disease (GVHD; see 614395) until immunocompetence has been demonstrated.

• #15 Practical guidelines for managing adults with 22q11.2 deletion syndrome | Genetics in Medicine

  https://www.nature.com/articles/gim2014175

  Early diagnosis and prompt institution of standard effective management by a knowledgeable clinician are essential for all psychiatric illnesses. […] Regular investigations including measurements of pH-corrected ionized calcium, magnesium, parathyroid hormone, and creatinine concentrations are recommended. […] Daily calcium and vitamin D supplementation are recommended for all adults with 22q11.2DS. […] Genetic counseling is an essential component in the ongoing management of all patients with 22q11.2DS and concerned relatives at multiple time points, from late adolescence through adulthood. […] Given the advantages of early detection and treatment of late-onset features of 22q11.2DS, all adolescents and adults should be informed of known clinical manifestations of the syndrome.

• #16 DiGeorge Syndrome (deletion 22q11.2; Velo-Cardio-Facial Syndrome; thymic hypoplasia; CATCH 22) – Dermatology Advisor

  https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/digeorge-syndrome-deletion-22q11-2-velo-cardio-facial-syndrome-thymic-hypoplasia-catch-22/

  Growth failure is not uncommon, and referral to endocrinology is indicated to evaluate the child for growth hormone deficiency and hypothyroidism. […] Feeding difficulties are common in the newborn period. Gastroesophageal reflux is common, and gastric motility may affect bowel elimination. Referral to a feeding clinic is indicated. […] Early intervention may be indicated at one year or sooner with referral to early intervention for developmental evaluation to provide speech, physical therapy, occupational therapy, and special instruction as needed.

• #17 22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/22q112-deletion-syndrome

  Boston Childrens Hospital provides a wide range of diagnostic, treatment, consultation, and advocacy services for children with 22q11.2 deletion syndrome. Our experts are experienced in caring for children who have 22q11.2 deletion. We advance care through early diagnosis and evidence-based protocols geared to specific disorders such as 22q11.2 deletion, in order to maximize the quality of children’s lives. Although there is no cure for 22q11.2 deletion syndrome, a range of options are available to address health problems related to the syndrome. For this reason, the first step in treatment is a careful screening to check for underlying medical problems. […] Common problems with 22q11.2 deletion that may need treatment include: […] Feeding difficulties: Children who have severe feeding difficulties may need tube feedings to get proper nutrition, other children have issues with reflux or discoordinated feeding that benefit from medication and/or feeding therapy.

• #18 22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/22q112-deletion-syndrome

  Infants and children with 22q11.2 deletion syndrome may have difficulties with feeding and swallowing. These may be related to or separate from their congenital heart defects or palatal abnormalities. Some children with severe feeding or swallowing difficulties may require tube feeds to help them grow. […] Feeding therapy can often help with improving oral motor skills for chewing and cup or straw drinking. […] Children with 22q11.2 deletion syndrome can have many different challenges as they begin to understand language and produce speech. Some of these challenges are related to developmental delays and may improve with speech therapy. Other challenges are related to structural differences. […] Periodic comprehensive speech and language assessment throughout childhood is important in identifying the developmental and structural differences that impact communication, and determining appropriate interventions.

• #19 22q11.2 Deletion Syndrome in Children

  https://vanderbilt2.staywellsolutionsonline.com/library/diseasesconditions/Pediatric/MedicalGenetics/90,P01682

  Treatment may include working with specialists. […] Other common problems that may need treatment include: […] Young children with 22q11.2DS may be slow to meet developmental milestones. These include sitting, walking, and talking. The International 22q11.2 Deletion Syndrome Foundation recommends that parents consider physical therapy (PT), occupational therapy (OT), and speech therapy for their child. PT strengthens large muscles and helps children meet developmental milestones. OT focuses on small muscles used for tying shoes, buttoning clothes, and other tasks. It can also help with feeding problems. Speech therapy can help your child with language delays. […] Most health problems caused by 22q11.2DS can be treated, especially if they are found early. Here are things you can do to help your child:

• #20 DiGeorge syndrome (22q11.2 deletion syndrome)

  https://www.mymlc.com/health-information/diseases-and-conditions/d/digeorge-syndrome-22q11.2-deletion-syndrome/?section=Overview

  DiGeorge syndrome, more accurately known by a broader term — 22q11.2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems. […] Medical problems commonly associated with 22q11.2 deletion syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems. […] Although there is no cure for DiGeorge syndrome (22q11.2 deletion syndrome), treatments can usually correct critical problems, such as a heart defect or cleft palate. Other health issues and developmental, mental health or behavioral problems can be addressed or monitored as needed. […] Your child will likely benefit from a range of therapies, including speech therapy, occupational therapy and developmental therapy. In the United States, early intervention programs providing these types of therapy are usually available through a state or county health department.

• #21 DiGeorge syndrome (22q11 deletion)

  https://www.nhs.uk/conditions/digeorge-syndrome/

  DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties. […] There’s currently no cure for DiGeorge syndrome. Children and adults with the condition will be closely monitored to check for problems, and these can be treated as they happen, if needed. […] For example, someone with DiGeorge syndrome may have: regular hearing tests, blood tests, heart scans and measurements of their height and weight; an assessment of their development and learning ability before starting school; speech therapy to help with speech problems and dietary changes; physiotherapy for problems with strength and movement; treatment from a podiatrist for foot and leg problems, and devices such as shoe inserts for leg pain; surgery for more severe problems. […] You may find it useful to speak to a social worker, psychologist or counsellor, who you can contact directly or through a doctor. […] Charities such as Max Appeal! may also be a good source of support.

• #22 What Is

  https://www.webmd.com/children/what-is-22q11.2-deletion-syndrome

  DiGeorge syndrome is one of the manifestations of 22q11.2 deletion. The lost genes in this condition chiefly affect the heart, brain, mouth, immunity, and hormonal system. The common DiGeorge syndrome symptoms are: […] At present, there is no treatment for such chromosomal disorders. Millions of nucleated cells in the body each have a copy of the defective chromosome, and it isn’t possible to correct this. Since the problems with this syndrome are variable, each person needs a customized treatment plan. Some measures your doctor will recommend include: […] Learning disabilities are an important component of this syndrome. These children have a high prevalence of intellectual disability. Common problems are deficits in attention, visual-spatial processing, attention, working memory, verbal learning, arithmetic, and language. Some of them have relative strengths in specific reading and spelling skills.

• #23 DiGeorge or 22q11.2 deletion syndrome | Immune Deficiency Foundation

  https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/digeorge-or-22q112-deletion-syndrome

  An immunologist will determine if the T cells are high enough for administration of live vaccines such as the rotavirus vaccine; the measles, mumps, rubella virus vaccine; and the varicella (chickenpox) vaccine. An immunologist should assess each child periodically to confirm that the T cell numbers remain adequate. […] The thyroid should be checked annually in children with DGS because thyroid disease is very common. By the time an individual with DGS is 40 years old, 1 of 5 have thyroid disease and are treated with thyroid medication. […] Working with school officials, including the school nurse, to develop an Individualized Education Program (IEP) and/or an Individual Healthcare Plan (IHP) can be very helpful. […] Family and school support are very important for children with DGS to enhance their development as best as possible. Staying connected to others through the Immune Deficiency Foundation, the 22q11.2 Society, and the CHARGE Syndrome Foundation can be helpful for families.

• #24 22q11.2 Deletion Syndrome in Children

  https://healthinfo.coxhealth.com/Library/HealthSheets/90,P01682

  The 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder. In children with this syndrome, a tiny piece of chromosome 22 is missing. This can cause many health problems. […] Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how bad the condition is. […] There is no cure for 22q11.2DS. But many of its related health problems can be treated. You can help your child by seeking early care. […] Most children who get treatment early will survive and grow into adulthood. They will likely need extra help throughout school. They may also need long-term care for their health needs. […] You can help your child live with 22q11.2DS by keeping all appointments with your child’s healthcare provider. […] Most health problems caused by 22q11.2DS can be treated, especially if they are found early. Here are things you can do to help your child: […] Think about getting genetic testing and counseling to understand whether 22q11.2DS is an inherited condition in your family.

• #25 DiGeorge Syndrome (22q11.2 Deletion): Signs, Diagnosis, and Treatment

  https://resources.healthgrades.com/right-care/symptoms-and-conditions/digeorge-syndrome

  Other symptoms and problems require a broad range of supportive care. This could include various medications, several therapies, rehabilitation, and behavioral care. Support professionals may include physical therapists, occupational therapists, speech therapists, audiologists, nutritionists, and counselors. […] Regular medical follow-up is necessary to monitor for potential complications.

• #26 How does 22q11.2 deletion syndrome impact on sleep and mental health?

  https://www.acamh.org/blog/22q11-sleep-mental-health/

  22q11.2 deletion syndrome, also known as DiGeorge Syndrome or VCFS (Velo-Cardio-Facial-Syndrome) is a multi-system condition, extremely variable, often poorly recognised/understood and occurs in 1 in every 2 4,000 births worldwide. […] 22q11.2 deletion syndrome is a multi-system condition requiring a multi-system approach. In the absence of a dedicated clinic the care-coordinator joining all the necessary components together is in many instances the mother. […] The most unhelpful thing of all is to come away from any professional meeting feeling that your concerns as a parent have not been heard and taken seriously. […] Mental health issues prevail throughout the lifetime of individuals with 22q. In stark contrast to the general public rates of ADHD, ASD, anxiety and mood disorders are greatly elevated in the 22q population.

• #27 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549798/

  Cardiac anomalies, if not diagnosed during the fetal ultrasound, may present shortly after birth as life-threatening cyanotic heart disease. […] Cleft palate cases require evaluation by an otolaryngologist, plastic surgeon, or oral maxillofacial surgeon with experience in surgical correction of palatal defects. […] Audiologic evaluation is necessary for DGS patients experiencing difficulty with hearing. […] Early intervention services are beneficial for children with impaired cognitive and behavioral development. […] Psychiatric care for DGS patients with depressive and psychotic symptoms is necessary, as diseases like schizophrenia are associated with DGS. […] Management of DGS requires an interprofessional approach by a team of healthcare professionals. […] Open communication and collaboration between all members of the interprofessional healthcare team are vital to ensure good outcomes.

• #28 Practical guidelines for managing adults with 22q11.2 deletion syndrome | Genetics in Medicine

  https://www.nature.com/articles/gim2014175

  22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. […] We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities. […] The existing clinical practice guidelines for 22q11.2DS are focused primarily on children. […] We therefore present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues pertinent to adults with 22q11.2DS. […] The available data support the likelihood that all associated conditions in 22q11.2DS respond similarly to the idiopathic forms of these conditions, that is, to standard management strategies and treatments, whether surgical or medical.

• #29 Taking steps to improve care and planning for patients in British Columbia with 22q11.2 deletion syndrome | British Columbia Medical Journal

  https://bcmj.org/articles/taking-steps-improve-care-and-planning-patients-british-columbia-22q112-deletion-syndrome

  Despite the extensive scientific understanding of 22q11DS, we do not have integrated case management and data sharing across subspecialties, which makes it difficult for primary care providers, community pediatricians, subspecialists, researchers, and health care planners to ensure evidence-based recommendations are being developed, implemented, and updated. […] To address these concerns, we recommend the following: Development of a Canadian (or international) 22q11DS patient data registry. […] Establishment of a provincial 22q11DS centre of excellence. A centre of excellence in BC would improve the care of adult 22q11DS patients, which has not yet advanced to international standards.

• #30 DiGeorge or 22q11.2 deletion syndrome | Immune Deficiency Foundation

  https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/digeorge-or-22q112-deletion-syndrome

  DiGeorge syndrome, most frequently caused by a deletion at 22q11.2, is a PI caused by abnormal migration and development of certain cells and tissues during fetal development. […] The treatment of a child with DGS varies depending on the infants immune status and the medical problems that the child has. For the 1% of infants with DGS who, on newborn screening, are found to have no T cells, a transplant of the thymus is recommended because of the high risk of infection and death. Because the defect in T cell development is due to a lack of thymus, hematopoietic stem cell transplantation (bone marrow transplantation) is not effective. These infants should be kept in strict isolation to avoid infection until T cells develop after thymus transplantation. […] For all infants with DGS, a multidisciplinary team is the preferred form of care. One example of such a team would be a clinic specializing in 22q11.2DS with multiple medical specialists needed for any child with DGS (whether or not the child has 22q11.2DS).

• #31 How does 22q11.2 deletion syndrome impact on sleep and mental health?

  https://www.acamh.org/blog/22q11-sleep-mental-health/

  Problems with sleep are very common in patients with 22q11.2 deletion syndrome. Sleep disordered breathing, including obstructive sleep apnea is seen in about 50% of patients with 22q in craniofacial clinic compared to about 11% in the general population. […] Sleep and mental health are inextricably intertwined and may co-exist alongside a number of other symptoms which are all interacting with each other at any given time. […] Poor sleep and sleep disturbances are more common in childhood but can occur at any time and for varying reasons and for some, they can remain a problem over the lifespan. […] The most common reasons for sleep disturbances cited by parents are sleep apnoea due to floppy larynx, undiagnosed reflux, separation anxiety, social anxiety / anxieties related to school, leg pains and gastrointestinal issues.

• #32

  https://omim.org/entry/188400

  Speech therapy and additional educational assistance may be needed. Cardiac defects are the usual focus of clinical management. Early echocardiography is essential in any child where other features suggest the diagnosis. […] Markert et al. (1999) treated 5 infants with the complete DiGeorge syndrome by transplantation of allogeneic, postnatal thymus tissue. All of them had severely reduced T-cell function. Their peripheral blood mononuclear cells did not respond to mitogens. After transplantation of thymus tissue, T-cell proliferative responses to mitogens developed in 4 patients. No graft-vs-host disease or graft rejection was detected, even in a case with full haplotype mismatch. Two of the patients survived with restoration of immune function, 11 months and 5.5 years after transplantation, respectively; 3 patients died from infection or abnormalities unrelated to transplantation. The authors concluded that early thymus transplantation (before the development of infectious complications) may promote successful immune reconstitution in the complete DiGeorge syndrome. […] See Oskarsdottir et al. (2023) and Boot et al. (2023) for clinical practice recommendations for managing children and adults with 22q11.2 deletion syndrome, respectively.

• #33 Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3197829/

  Specialty clinics, or so-called clinical centers of excellence, can, as seen in this case, provide support for both the parents and treating clinicians while facilitating access to peer-support networks. […] However, the availability of 22q11DS specialty clinics is limited. Thus, these guidelines are designed to assist the primary care physician in caring for the patient with a 22q11.2 deletion.

• #34 List of 22q Clinics | 22q Family Foundation

  https://22qfamilyfoundation.org/living-with-22q/22q-clinics

  The MGH 22q11 Center sees patients with 22q11 deletion syndrome of all ages, inclusive of patients with DiGeorge and velocardiofacial syndromes. Our clinic draws on the unique expertise of physicians at MGH, MassGeneral Hospital for Children, Massachusetts Eye and Ear Infirmary, and the Lurie Center for comprehensive, syndrome-specific, and evidence-based care. We provide a medical home with guideline-based health care management for a patients, coordinate specialty care or consultation with 22q11 team multidisciplinary team subspecialists (pediatric or adult specialties), and address developmental, behavioral, and psychiatric concerns. […] Our goal is personalized health care for wellness and optimal quality of life for our patients with 22q11.2 deletion syndrome. […] The 22q Clinic at Phoenix Children’s Hospital is the only comprehensive program in Arizona for children diagnosed with 22q11.2 deletion syndrome. That means your child can be seen by all of the specialists they need, all in one place, and appointments with all of your childs specialists can be scheduled on the same day. And since we are a childrens hospital, we are committed to providing family-centered care. […] Our goal is to provide the most comprehensive assessment and treatment plan to our patients and to provide families with education and support to help them take best care of their child.

• #35 List of 22q Clinics | 22q Family Foundation

  https://22qfamilyfoundation.org/living-with-22q/22q-clinics

  In addition to addressing the medical and emotional needs of the child, our team also works with the family to implement effective learning and behavioral interventions to help the child grow and reach their full potential. […] We also coordinate your referrals to the appropriate specialists for your convenience. […] The 22q multidisciplinary clinic at Joe DiMaggio Children’s Hospital is the first 22q clinic of its kind in the state of Florida and the only clinic in in the United States serving adults with 22q as well. Our goal is to provide patient-centered, comprehensive, and individualized care to patients who have 22q11.2 deletion syndrome (also known as DiGeorge Syndrome or Velocardiofacial Syndrome) and 22q11.2 duplication syndrome (slightly different condition). […] Our teams work has been presented at national and international meetings, like the most recent 22q scientific meeting in Split, Croatia. The program is also unique in that it is now expanding to care for adult 22q patients. Our clinic is another live example of how multidisciplinary care is the best way to achieve the most optimal outcomes in 22q patients.

• #36 DiGeorge syndrome (22q11.2 deletion syndrome)

  https://www.mymlc.com/health-information/diseases-and-conditions/d/digeorge-syndrome-22q11.2-deletion-syndrome/?section=Overview

  Having a child with DiGeorge syndrome (22q11.2 deletion syndrome) is challenging. You must deal with numerous treatment issues, manage your own expectations and meet the needs of your child. Ask your health care team about organizations that provide educational materials, support groups and other resources for parents of children with 22q11.2 deletion syndrome.

• #37 DiGeorge Syndrome Diagnosis & Treatment | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/genetic-syndromes/digeorge-syndrome-22q112-deletion-syndrome

  22q11.2 DS has a wide array of symptoms that can affect different organ systems. […] If your child is diagnosed with this condition, he or she will need treatment from specialists in a variety of fields. […] A Cardinal Glennon St. Louis Fetal Care Institute nurse coordinator will serve as your primary contact and will coordinate the care for you and your baby throughout the pregnancy. […] The goal of the Cardinal Glennon St. Louis Fetal Care Institute team is to provide families with the support, information, knowledge and options to make the decisions that are best for their baby. […] At the Cardinal Glennon St. Louis Fetal Care Institute your little one will receive specialized care in a state-of-the art hospital that has the equipment, team, and experience to meet his or her needs.

• #38 22q11.2 Clinic | Children’s Mercy Kansas City

  https://www.childrensmercy.org/departments-and-clinics/endocrinology/22q11.2-clinic

  This team-based approach to care means that you have fewer visits to the doctor. Plus, all of your child’s specialists are meeting together to create a coordinated plan of care. […] One member of your child’s Super Q Express team is a clinical social worker. Social workers assist families with problem solving and coping with medical and non-medical stresses.

• #39 Montefiore-Einstein Regional Center for 22q11.2 Deletion Syndrome | The Children’s Hospital at Montefiore

  https://www.cham.org/programs-centers/22q11-2-deletion-syndrome

  The 22q11.2 deletion syndrome (22q11DS also known as DiGeorge syndrome or Velo-cardio-facial syndrome) is a genetic disorder that is caused by a microdeletion of part of the long arm of chromosome 22. […] As a result of numerous medical issues that affect individuals with 22q11DS, it is essential that they receive care from a large number of medical and allied healthcare professionals. At the Montefiore-Einstein Regional Center for 22q11DS, care is delivered by a team of professionals who have experience and expertise in working with patients and families carrying the deletion. We work in unison, communicating and sharing information to formulate an effective treatment plan and intervention tailored to the patient and family. […] Every patient with 22q11.2DS requires individualized medical treatments and procedures because of the variable and unique characteristics of the syndrome, even among affected patients from the same family.

• #40 DiGeorge syndrome: Causes, symptoms, and treatment

  https://www.medicalnewstoday.com/articles/308533

  Other treatments include: Surgical repair is usually necessary. […] Surgical repair may be needed. […] Physiotherapy, educational, and language support are some examples of the help that is available. […] Some mental health disorders may require treatment depending on the diagnosis. […] As with most medical conditions, early diagnosis and treatment is essential. It is also important to attend all medical appointments, as ongoing monitoring can help an individual maintain a good level of health.

• #41 Taking steps to improve care and planning for patients in British Columbia with 22q11.2 deletion syndrome | British Columbia Medical Journal

  https://bcmj.org/articles/taking-steps-improve-care-and-planning-patients-british-columbia-22q112-deletion-syndrome

  We hoped that by determining which health care services 22q11DS patients access and what barriers affect data sharing we might catalyze new collaborations involving pediatric subspecialties, community primary care providers, researchers, and policymakers and provide a foundation for improved care and planning for transition to adult health care. […] This study highlights the complexity of health care for patients with 22q11.2 deletion syndrome and identifies the data sharing and transition planning challenges we need to address. […] On average, pediatric-aged 22q11DS patients are seen by specialists and subspecialists at five tertiary care programs and are followed for 7 years. […] Through improved data sharing systems for 22q11DS and other rare disorders, we will have the opportunities to enhance the patient and family experience, increase system efficiency, and improve health outcomes.

• #42 DiGeorge syndrome | Autism Speaks

  https://www.autismspeaks.org/expert-opinion/digeorge-syndrome

  Indeed, it’s becoming part of standard medical practice to test for underlying genetic causes of autism. Chromosomal microarray testing can detect deletions and duplications. Sequence analysis detects mutations in individual genes. […] Ultimately, identifying the genetic causes of autism can lead to the development of drug therapies targeted to specific disorders.

• #43 What You Should Know About 22q11.2 Deletion Syndrome – LifeLabs

  https://www.lifelabs.com/what-you-should-know-about-22q/

  While there is no cure for 22q11.2 deletion syndrome, there are various treatments and interventions available to manage symptoms and improve quality of life. These may include surgeries to correct heart defects, speech therapy for speech and language problems, and educational interventions for developmental delays and learning difficulties.

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