Materiały źródłowe

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

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

  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. […] Treatments and therapy for 22q11.2 deletion syndrome may include treatments for: […] Taking calcium and vitamin D supplements as directed by your healthcare professional often can manage hypoparathyroidism. In some cases, other supplements also may be recommended. […] Most heart problems related to 22q11.2 deletion syndrome require surgery soon after birth to repair the heart and make the supply of oxygen-rich blood better. […] A cleft palate or other unusual features of the palate and lip usually can be repaired by surgery.

• #2 DiGeorge Syndrome (22q11.2 Deletion Syndrome): What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21182-digeorge-syndrome

  Treatment for DiGeorge syndrome (22q11.2 deletion syndrome) varies for each person and depends on what symptoms affect your body. Treatment could include: […] Your provider will immediately treat symptoms that could be life-threatening after a diagnosis, especially symptoms that affect your child’s heart, to prevent complications.

• #3 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.

• #4 22q11.2 Deletion Syndrome (DiGeorge Syndrome) (for Parents) | Nemours KidsHealth

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

  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. […] This team often includes doctors with special training in: bones (orthopedic surgery), ear, nose, and throat problems (otolaryngology), eye problems (ophthalmology), genetics, growth and learning (developmental pediatrics), hearing (audiology), heart problems (cardiology), hormone and mineral balance (endocrinology), infection-fighting (immunology), kidney problems (nephrology, urology), brain and nervous system issues (neurology and neurosurgery), mental health (psychology and psychiatry), behavior issues (behavioral psychology), nasal speech (VPD) (speech-language therapy, a pediatric craniofacial surgeon), learning problems and cognitive issues (neuropsychology).

• #5 22q11.2 Deletion Syndrome in Children

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

  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. […] Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how bad the condition is. […] Treatment may include working with specialists. This may include any of the following: […] Cardiologist. They will look at any heart defects. The cardiologist may correct them with a procedure or surgery. […] Plastic surgeon, otolaryngologist or oral and maxillofacial surgeon, and speech pathologist. They will look at any cleft lip or cleft palate defects. […] Speech and digestive specialists. They will look at any feeding problems. Some children with the syndrome have severe feeding problems. They may need tube feedings in order to get enough nutrition.

• #6 22q11.2 Deletion Syndrome in Children

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

  Immune system specialist. Your child should be checked by this type of specialist. If your child has a T cell problem, they are at risk for infections that keep coming back. Your child should not have any live viral vaccines. Your child should have any blood products for a transfusion irradiated. This is true unless your child’s immune system healthcare provider says that it is not needed. […] Neurology and developmental pediatric specialist. Learning, developmental, and behavioral difficulties are common. This type of healthcare provider can screen for, as well as keep track of and address, these problems if they occur. […] Endocrinologist. This specialist treats problems of the endocrine system. Your child may have parathyroid glands that haven’t fully developed. This can result in hypocalcemia, which causes low calcium levels. It’s a potentially life-threatening side effect of the syndrome.

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

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

  A 12-year-old boy currently is followed by multiple sub-specialists for problems caused by the chromosome 22q11.2 deletion syndrome (22q11DS) […] As demonstrated by this boys complicated course, practical multi-system guidelines are needed to assist the general practitioner and specialists in caring for patients with 22q11DS. […] Diagnosis at any age significantly changes genetic counseling and patient treatment. Early diagnosis provides the best opportunity for affecting the course of illness and optimizing outcomes. Anticipatory care includes screening for and coordinated management of associated conditions. Available evidence indicates that standard treatments are effective for related problems, from congenital cardiac anomalies to thyroid disease to psychiatric illness. […] 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.

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

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

  Because of the complexity of 22q11DS in many cases, when geographically and economically feasible, we recommend that all affected individuals be evaluated periodically at a comprehensive care center. 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.

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

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

  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).

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

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

  For the 99% of infants with DGS who have T cells, the immune system is not a major problem. 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. […] Some of these individuals require immunoglobulin replacement therapy. […] Heart defects at birth often need to be repaired by heart surgery. […] Low calcium levels from a poorly functioning parathyroid gland usually improve, and most children do not need calcium replacement for more than one year. The exception is the group born with no T cells—these children often remain on calcium for life.

• #11 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

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

  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. Immunodeficiency in neonates with complete DGS (cDGS) requires management with isolation, intravenous IgG, antibiotic prophylaxis, and either thymic or hematopoietic cell transplant (HSCT). […] Immunization, boosters, intravenous immunoglobulin, and antibiotic prophylaxis regimens should revolve around the individual patient’s laboratory values. Antibody titer to administered vaccines should be re-evaluated every six to twelve months to determine the necessity of re-vaccination.

• #12 DiGeorge syndrome – Wikipedia

  https://en.wikipedia.org/wiki/DiGeorge_syndrome

  DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. […] Although there is no cure, treatment can improve symptoms. […] This often includes a multidisciplinary approach with efforts to improve the function of the potentially many organ systems involved. […] With treatment, life expectancy may be normal. […] For example, in children, it is important that the immune problems are identified early, as special precautions are required regarding blood transfusion and immunization with live vaccines. […] Thymus transplantation can be used to address absence of the thymus in the rare, so-called „complete” DiGeorge syndrome. […] Bacterial infections are treated with antibiotics. […] Cardiac surgery is often required for congenital heart abnormalities.

• #13 22q11.2 Deletion Syndrome in Children

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

  Other common problems that may need treatment include: […] Low calcium. This is common in children with the syndrome, especially right after birth. But it can also happen during times of stress, such as during puberty or after surgery. Your child may need to take calcium and vitamin D supplements. […] Development problems. 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.

• #14 DiGeorge Syndrome Medication: Regenerative Therapy, Antibiotics, Vitamin and Mineral Supplements

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

  Hypocalcemia may occur, requiring supplementation with calcium. In patients with symptoms refractory to calcium, supplementation with a vitamin D analog may also be necessary. […] Calcium carbonate is used for the treatment and prevention of calcium depletion. Calcium moderates nerve and muscle performance by regulating the action potential excitation threshold. […] This agent is a vitamin D analogue and the primary active metabolite of vitamin D-3. Calcitriol increases calcium levels by promoting the absorption of calcium in the intestines and the retention of calcium in the kidneys. Its use should be initiated only upon an endocrinologist’s recommendation. […] Calcium gluconate moderates nerve and muscle performance and facilitates normal cardiac function. It can initially be administered intravenously; a high-calcium diet can be used to maintain calcium levels. Some patients require oral calcium supplementation. […] This vitamin D-2 analogue is converted in the liver to an active intermediate and then further converted to its most active form in kidneys. Ergocalciferol effectively increases renal reabsorption of calcium, intestinal absorption of calcium, and calcium mobilization from bone to plasma.

• #15 Endocrine aspects of the 22q11.2 deletion syndrome | Genetics in Medicine

  https://www.nature.com/articles/gim20015

  Treatment of severe symptomatic hypocalcemia requires prompt administration of parenteral calcium, 10-15 mg/kg elemental calcium, infused slowly to avoid cardiac dysfunction. […] Asymptomatic hypocalcemia may be treated with oral calcium supplements, 75-100 mg/kg/day elemental calcium. […] Maintenance therapy is usually accomplished with 1,25-dihydroxy vitamin D, with or without calcium supplementation. […] The goal of treatment is not to normalize serum calcium concentrations: in the absence of PTH, urinary losses of calcium remain high, so that patients with hypoparathyroidism are at risk of renal calculi formation. […] Growth in children with a 22q11.2 deletion should also be closely monitored. […] Although short stature is common in children and adults with a 22q11.2 deletion, growth hormone deficiency remains an important, treatable cause of poor growth in this population. […] We have shown that initiation of growth hormone therapy in growth hormone deficient children with a 22q11.2 deletion is associated with sustained improvements in height and growth velocity.

• #16 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: […] Heart defects: Children born with heart defects may need surgery to correct the condition.

• #17 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. Pediatric cardiothoracic surgery evaluation may be urgently required. […] Cleft palate cases require evaluation by an otolaryngologist, plastic surgeon, or oral maxillofacial surgeon with experience in surgical correction of palatal defects. Repair of a cleft palate can improve feeding ability, speech, and reduce the incidence of sinopulmonary infections. […] Hypocalcemia is manageable with calcium and vitamin D supplementation. Recombinant human PTH is an option in DGS patients refractory to standard therapy. […] Autoimmune diseases are common in DGS patients, including immune thrombocytopenia (ITP), rheumatoid arthritis, autoimmune hemolytic anemia, Graves disease, and Hashimoto thyroiditis. DGS patients should be evaluated carefully for autoimmune symptoms regularly.

• #18 Velocardiofacial Syndrome (VCFS) | Causes & Associated Problems

  https://www.cincinnatichildrens.org/health/v/vcfs

  Velocardiofacial syndrome, or 22q11 deletion syndrome, is known by many names, including Shprintzen syndrome, craniofacial syndrome, DiGeorge syndrome, or conotruncal anomaly face syndrome. […] Research shows that children with velocardiofacial syndrome are born with these features and that they do not progress over time. Knowing which body systems are affected will help your doctors provide you and your child with the best therapeutic interventions. […] Depending on the presence and severity of various features, any child with VCFS might need one or more of the following surgeries: Repair of heart defects (see list of specific congenital heart defects above), Repair of cleft palate, Repair / reconstruction of the lower jaw, Reconstructive surgery of the ears. […] Many systems of the body in addition to the heart may be affected in patients with velocardiofacial syndrome, these children need a multidisciplinary approach to their medical problems. They need a whole team working together to treat each body system.

• #19 22q deletion Syndrome (DiGeorge syndrome, VCFS) – Children’s Health

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

  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. […] Your child may be treated with thyroid or calcium and vitamin D supplements if levels are found to be off. […] Assistance with feeding including bottles with specialty nipples. […] Hearing should be checked regularly since hearing loss due to a buildup of fluid behind the eardrums is common. Ventilation tubes may be necessary to help fluid drain out across the eardrum.

• #20 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. […] Potential treatments facilitated by early identification include: Modified labor and delivery plans for a hospital birth with high-risk specialist support, Preplanned surgeries for heart defects, Treatment of low calcium levels beginning immediately at birth to prevent seizures and aid bone development, Surgical correction of palate abnormalities to help breathing, feeding, and speech, Customized care strategies for immune deficiencies, developmental delays, and learning difficulties.

• #21 22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Boston Children’s Hospital

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

  Cleft palate: Some children may need surgery to repair the opening in their palate. […] 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. […] Low calcium: Children may need to take calcium supplements as well as vitamin D to help absorb the calcium. […] Immune deficiency: generally requires no specific intervention except treating infections aggressively. Rarely, prophylactic antibiotics, IVIG therapy, or thymic transplantation are required. […] Developmental, psychological, and learning difficulties: Early intervention services may be recommended to help children reach developmental milestones. As they grow, children with 22q11.2 deletion may also benefit from special education services, physical therapy, occupational therapy, and speech therapy. Children and young adults are at an increased risk for anxiety, depression, and other psychiatric complications that benefit from early identification and treatment.

• #22 Spotlight on Syndromes: An SLPs Perspective on 22q Deletion Syndrome | Smart Speech Therapy

  https://www.smartspeechtherapy.com/spotlight-on-syndromes-an-slps-perspective-on-22q-deletion-syndrome/

  Surgical Interventions: The most common surgical treatments for children that have VPD include a pharyngeal flap or sphincter pharyngoplasty. Some research studies have shown that children with 22q Deletion Syndrome are more likely to have VPD and compensatory articulation errors that persist after surgery than children with a non-syndromic cleft palate. If compensatory errors, such as glottal stop substitutions are present, it’s important to address these errors first in therapy. […] When providing speech therapy to young children with a cleft palate or VPD, it’s important to blend intervention approaches to target speech production and facilitate language development. Research has shown that blowing exercises and other non-speech oral motor exercises are not effective for children with 22q Deletion Syndrome. Speech therapy should follow the motor learning approach.

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

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

  Your child likely will benefit from a range of therapies, including speech therapy, occupational therapy and developmental therapy. In the U.S., early intervention programs providing these types of therapy usually are available through a state or county health department. […] Treatment may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, depression, or another mental health or behavioral condition. […] These conditions may include feeding and growth issues, hearing or vision problems, and other medical conditions.

• #24 22q11.2 Deletion Syndrome in Children – Stanford Medicine Children’s Health

  https://deprod.stanfordchildrens.org/en/topic/default?id=22q112-deletion-syndrome-in-children-90-P01682

  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. […] Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. […] Treatment may include working with specialists. This may include any of the below: […] Other common problems that may need treatment include: […] 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. You can help your child by:

• #25 Spotlight on Syndromes: An SLPs Perspective on 22q Deletion Syndrome | Smart Speech Therapy

  https://www.smartspeechtherapy.com/spotlight-on-syndromes-an-slps-perspective-on-22q-deletion-syndrome/

  It’s important to refer children to a cleft palate team at the time of diagnosis because of the high instance of submucous cleft palate or VPD without the presence of a cleft. Many large hospitals have developed 22q Deletion Syndrome teams. These teams and clinics specifically for children with 22q Deletion Syndrome are becoming more common and easier for families to access as more teams form around the country. […] Current Research: Fullman and Boyer (2012) reported that using an Enhanced Milieu approach when providing early intervention services may be most beneficial to children with 22q Deletion Syndrome. The Enhanced Milieu approach encourages parents, caregivers, and therapists to manipulate the environment in a way that facilitates verbal communication. This approach provides social interactions in contexts that are structured and predicable. Fullman and Boyer recommended combining an Enhanced Milieu approach with a Focused Stimulation approach to improve speech production.

• #26 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. […] 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. […] As for virtually all associated conditions in 22q11.2DS, standard management is recommended, that is, management according to clinical practice guidelines for schizophrenia, including antipsychotic medications.

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

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

  Patients may benefit from a start low, go slow approach to antipsychotic dosing and prophylactic (e.g., anticonvulsant) management strategies to help ameliorate the risk of associated side effects, particularly with respect to seizures during clozapine treatment. […] 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. […] Treatment with hormonally active metabolites of vitamin D for more severe hypocalcemia usually requires consultation with an endocrinologist.

• #28 DiGeorge Syndrome: Symptoms, Causes, Diagnosis, and Treatment

  https://www.verywellhealth.com/digeorge-syndrome-overview-4584404

  Severe thymus dysfunction, in which the impairment is severe or the thymus gland is completely missing, may require a thymus or bone marrow transplant. […] Child development problems require a multidisciplinary approach, often including speech therapy, special education, occupational therapy, and developmental therapy. […] Mental health issues may require therapy and pharmaceutical drugs to manage conditions like ADHD, depression, autism spectrum disorders, and schizophrenia. […] The outlook of treatment can vary by the severity of the symptoms; there is not a single disease pathway or expected outcome. […] However, many of the characteristic symptoms tend to resolve or become manageable over time with appropriate treatment. Others, particularly mental health issues, may develop and worsen over time particularly those involving psychosis and schizophrenia. Early identification and intervention can greatly reduce the impact of these conditions. […] Unlike some chromosomal deletions disorders, DiGeorge syndrome is not inherently associated with a shortened life span. Many people can live long, healthy lives and even have children.

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

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

  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.

• #30 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

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

  Audiologic evaluation is necessary for DGS patients experiencing difficulty with hearing. Children too young to express difficulty with hearing need assessment, particularly with a delay in cognitive and behavioral development. […] Early intervention services are beneficial for children with impaired cognitive and behavioral development. […] Speech therapy is necessary for difficulty with language secondary to craniofacial anomalies and/or cognitive impairment. […] Psychiatric care for DGS patients with depressive and psychotic symptoms is necessary, as diseases like schizophrenia are associated with DGS. […] Genetic counseling is a reasonable consideration for parents of a child with DGS who desire more children, as well as for patients with DGS who may want to become parents. If a parent has the same mutation as an affected child, there is a 50% chance a new baby will also have DGS.

• #31 22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Texas Children’s

  https://www.texaschildrens.org/content/conditions/22q112-deletion-syndrome-digeorge-syndrome

  22q11.2DS (DiGeorge Syndrome) is a genetic disorder that occurs when a small piece of one of the baby’s chromosomes – chromosome 22 – is missing. […] Treatment is focused on each child’s symptoms. Early diagnosis and intervention are important to help optimize outcomes. […] Treatment for 22q11.2DS (DiGeorge Syndrome) depends on each child’s symptoms and complications. Early intervention is key to optimizing outcomes. […] In general, treatment strategies for children with 22q11.2DS may include: Surgery to repair a congenital heart defect, Surgery to repair a cleft palate/cleft lip, Tube feeding for babies with severe feeding problems, Calcium supplements to treat low calcium levels, Treatment of infections and immune system complications, Speech therapy to help with language delays, Physical and occupational therapy to help children meet developmental milestones, Support for learning difficulties, Mental health care for behavioral or mental health concerns, Regular checkups for early detection of new health complications or developmental issues as the child ages.

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

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

  Standard treatments seem effective. […] General recommendations for managing pregnancies for which one member of the couple has 22q11.2DS are provided. […] Specific pregnancy and contraception education is required for women with congenital cardiac lesions because pregnancies in this group are associated with increased risks of maternal and fetal/neonatal complications. […] 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.

• #33 DiGeorge syndrome (22q11.2 deletion syndrome) – The Oncofertility Consortium

  https://oncofertility.msu.edu/non-malignant-conditions/digeorge-syndrome-22q11-2-deletion-syndrome/

  Oocyte or Embryo Cryopreservation. Oocyte and embryo cryopreservation are the most effective methods to preserve fertility. […] One entire ovary is removed surgically and the outer surface (cortex), which contains the eggs, is frozen in strips for later use. Pieces of the tissue may be thawed and transplanted back into the body. A number of pregnancies have resulted from using this technique. […] Sperm cells are collected and frozen for future use. […] Testicular tissue, including cells that produce sperm and sperm itself, is removed and frozen. The procedure has varying risks and side effects. This options may not be appropriate for many patients. […] Although prenatal testing is available, this can pose very difficult decisions for parents whom have an affected pregnancy, as the topic of termination is a controversial one. Genetic counselors are important in this process in order to fully inform families of their options prior to conception.

• #34 DiGeorge syndrome (22q11.2 deletion syndrome) – The Oncofertility Consortium

  https://oncofertility.msu.edu/non-malignant-conditions/digeorge-syndrome-22q11-2-deletion-syndrome/

  One alternative is preimplantation genetic diagnosis (PGD). PGD makes it possible for us to analyze embryos for specific genetic disorders. […] The first case of PGD in a patient with DiGeorge syndrome was reported in 1998 by Iwarsson et al. […] In 2009, Shefi et al reported a successful PGD in a 32-year-old woman with DiGeorge syndrome, with typical facial features and velopharyngeal anomaly. She has a 3-year-old daughter who was diagnosed with DiGeorge syndrome shortly after birth. FISH was used to detect 22q11.2 deletions in the embryos, and after three PGD attempts, the family gave birth to a healthy female baby.

• #35 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

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

  In the cDGS featuring no thymus function and bone marrow stem cells can not develop into T cells, children usually die by age 2 years due to severe infections. In this setting, the proposal is to T cellreplete HSCT. […] Nevertheless, because of the absence of thymus, this strategy can only obtain engraftment of post thymic T cells. […] Recently, the FDA approved the thymus transplantation as standard care. This approach focuses on producing naive T cells with a broad T-cell receptor set. The procedure takes place using general anesthesia, and thymus tissue usually gets transplanted into the recipient subject’s quadriceps. Studies indicate up to 75% of long-term survival but have described frequent autoimmune sequelae (e.g., autoimmune hemolysis, thyroiditis, thrombocytopenia, enteropathy, and neutropenia) in survivors.

• #36 DiGeorge Syndrome in Kids | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/chromosome-22q/

  The Chromosome 22q11.2 Deletion Syndrome Multidisciplinary Clinic at Children’s Hospital Colorado evaluates children with 22q11.2 Deletion Syndrome and provides comprehensive management and ongoing multi-disciplinary care for children and families affected by the syndrome. Our specially trained clinicians provide patients and families with the resources necessary to understand the diagnosis, determine the appropriate treatments and therapies, cope with the challenges and thrive with the syndrome. […] Once diagnosed, there are published management guidelines that screen for possible complications and identify targeted management plans. Because it is a multisystem disorder, it is necessary to have multiple, ongoing evaluations, treatments and interventions. However, it is important to note that some children with 22q have few signs or symptoms and require minimal assistance; most others respond well to tailored treatment programs.

• #37 DiGeorge Syndrome in Kids | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/chromosome-22q/

  Following diagnosis, the Chromosome 22q11.2 Multidisciplinary Clinic works with families to coordinate a prescribed care program, directing families to the appropriate resources to address specific symptoms. This can include the services of: […] The Chromosome 22q11.2 Deletion Syndrome Multidisciplinary Clinic is the only medical center in the Rocky Mountain region to take a comprehensive and integrated approach to managing the syndrome, drawing on an extensive range of pediatric services and specialists at Children’s Colorado to provide the highest level of expertise to our patients. As experts in the problems and challenges of 22q, we bring together recognized pediatric experts in areas such as genetics, cardiology, immunology, craniofacial, otolaryngology, psychiatry, child development and endocrinology as needed to work with each family to meet their child’s specific needs.

• #38 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. […] Although there is no cure for 22q11.2 DS, treatment can improve symptoms. The prognosis for newborns with the condition varies and depends on the severity of their symptoms and the organs affected. […] Babies with 22q11.2 DS may struggle with feeding and growth problems, hearing or vision loss, and other medical conditions. Fortunately, surgery to correct medical problems associated with 22q11.2 DS, such as heart defects and cleft palate, often provide effective treatment for many of these babies. […] 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, and other healthcare professionals. […] After delivery, the Complex Medical Care program at SSM Health Cardinal Glennon Children’s Hospital can help with the medical care process by collaborating with all these health care providers to help ensure continuity of care.

• #39 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 goal is personalized health care for wellness and optimal quality of life for our patients with 22q11.2 deletion syndrome. […] 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. […] Our team is committed to providing the most comprehensive care to our patients and their families through a unique family-centered approach. Many of our physicians and staff are bilingual, offering services in both English and Spanish to better serve our 22q community. Our clinic includes the following Pediatric subspecialties: Genetics, Immunology, Endocrinology, Ear, Nose and Throat (Otolaryngology), Developmental Neurology, Cardiology, Speech Pathology and Nutrition.

• #40 22q and You Center | Children’s Hospital of Philadelphia

  https://www.chop.edu/centers-programs/22q-and-you-center

  The 22q and You Center at Children’s Hospital of Philadelphia (CHOP) is an internationally recognized leader in diagnosing and treating children with chromosome 22q11.2 deletion syndrome. […] Our program treats children with 22q11.2 deletion and duplication syndromes, including DiGeorge syndrome, velocardiofacial syndrome and others. […] CHOP has the largest program in the country dedicated to the diagnosis and treatment of children with 22q11.2 deletion syndrome. […] Physicians and researchers at CHOP are actively studying 22q deletion syndrome with the goal of discovering the causes of the disorder and how to improve the lives of children affected by it. […] From diagnosis and evaluation to treatment and follow-up resources, we can help your family cope with the diagnosis of chromosome 22q11.2 deletion and help your child lead a happy and meaningful life.

• #41 Deletion Syndrome 22q11.2: A Systematic Review

  https://www.mdpi.com/2227-9067/9/8/1168

  There is currently no curative treatment for this disease. The clinical approach focuses on treating the underlying problems that appear with the evolution of the syndrome. […] The aim is to improve, and sometimes maintain, the highest possible quality of life for these patients. […] However, the undoubted advances in gene therapy will have a positive impact on the development of this disease, and this may be a line of treatment in future.

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