Materiały źródłowe

• #1 Developmental Trajectories in 22q11.2 Deletion

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5061035/

  Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affecting 1 in 2,0004,000 live births and involving haploinsufficiency of 50 genes resulting in a multisystem disorder. […] Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities, most frequently velopharyngeal incompetence (VPI); immunodeficiency; hypocalcemia due to hypoparathyroidism; genitourinary anomalies; severe feeding/gastrointestinal differences; and subtle dysmorphic facial features. […] The neurocognitive profile is also highly variable, both between individuals and during the course of development. From infancy onward, motor delays (often with hypotonia) and speech/language deficits are commonly observed. During the preschool and primary school ages, learning difficulties are very common.

• #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. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. […] The multisystem nature and associated burden of morbidities means that adults with 22q11.2DS may be seen in virtually any medical practice. […] The phenotypes associated with 22q11.2DS are highly variable in number and severity, even within families and between monozygotic twins. […] Neuropsychiatric diseases comprise the most common group of later-onset conditions in 22q11.2DS, are typically of greatest concern to patients and their families because of their seriousness and the associated stigma, are most likely to bring adolescent and adult patients (back) to medical attention and to affect the individuals daily functioning, and may constitute a management challenge.

• #3 DiGeorge syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-us/947

  DiGeorge syndrome (also known as 22q11.2 deletion syndrome) predominantly results from a microdeletion in chromosome 22, which disrupts the development of the pharyngeal arches and pouches, and may also cause neurological, immunological, endocrinological, or cognitive deficits. […] Classic presentation is a triad of cardiac anomalies, hypoplastic thymus, and hypocalcaemia, but clinical manifestations are highly variable, ranging from mild learning disabilities to the complete spectrum of congenital malformations. […] Presenting signs and symptoms depend on age at diagnosis and the organ system affected. […] This developmental disruption may cause cardiac anomalies, immunological abnormalities, cleft lip and palate, hypoparathyroidism, learning disabilities, and schizophrenia. […] The first, pharyngeal component consists of congenital heart disease, hypoplasia of the parathyroid glands, thymic hypoplasia with T-cell immunodeficiency, cleft lip and palate, and mild dysmorphic facial features. The second, neurological phenotype consists of mild cognitive dysfunction, which typically presents as learning disabilities, speech impairment, and an increased incidence of schizophrenia.

• #4 DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis – UpToDate

  https://www.uptodate.com/contents/digeorge-22q11-2-deletion-syndrome-clinical-features-and-diagnosis

  DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. Most cases are caused by a heterozygous chromosomal deletion at 22q11.2. Chromosome 22q11.2 deletion syndrome (22qDS) includes DGS and other similar syndromes, such as velocardiofacial syndrome. The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia (resulting from parathyroid hypoplasia). […] Thymic defects in DGS result in a range of T cell deficits. Most patients with DGS have mild defects in T cell numbers and are not severely immunodeficient. Approximately 1 percent, however, have a complete absence of thymic tissue and profound immunodeficiency. This form of DGS, called complete DGS, is a type of congenital athymia with a severe combined immunodeficiency (SCID) phenotype and is life threatening if not corrected with immune reconstitution by thymic tissue implantation or potentially hematopoietic cell transplantation in some instances.

• #5 DiGeorge syndrome (22q11.2 deletion syndrome) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543

  DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a condition caused when a small part of chromosome 22 is missing. This deletion causes several body systems to develop poorly. […] Medical problems commonly related to 22q11.2 deletion syndrome include heart problems, lowered immunity, a cleft palate, complications from low levels of calcium, various eye issues and autoimmune disorders. Complications also include hearing loss, skeletal differences, kidney and genital differences, and delayed development with behavioral and emotional problems. […] Symptoms of DiGeorge syndrome can vary based on what body systems are affected and the severity of the problems. Some symptoms may be clear at birth, but others may not appear until later in infancy or as a young child, or as an adult.

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

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

  DiGeorge syndrome is a genetic condition caused by a missing piece of chromosome 22. Another name for DiGeorge syndrome is 22q11.2 deletion syndrome. Symptoms can affect your heart, immune system and other body systems, and cause distinct facial characteristics. Treatment to manage your symptoms is lifelong and there’s no cure for the condition. […] Symptoms of DiGeorge syndrome can range from mild to severe. The most severe symptoms can be life-threatening. […] The classic features are problems with the heart, underdeveloped thymus and decreased calcium levels. […] Symptoms that affect your heart can be life-threatening. […] Symptoms of 22q11.2 deletion syndrome can affect the function and development of your brain and could include: Anxiety and/or depression, Attention-deficit/hyperactivity disorder, Autism spectrum disorder, Challenges with cognitive development and behavior, Developmental delays, including fine motor skills, speech and language, Schizophrenia, Seizures.

• #7 DiGeorge syndrome (22q11.2 deletion syndrome) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543

  Other symptoms may include: Delayed growth. Delayed development, such as delays in rolling over, sitting up or other infant milestones. Delayed speech development or nasal-sounding speech. Learning delays or disabilities. Behavioral problems. […] The portions of chromosome 22 missing in DiGeorge syndrome affect the development of several body systems. As a result, the condition can cause several errors during fetal development. […] 22q11.2 deletion syndrome often causes heart problems that could lead to too little oxygen-rich blood. For example, problems may include a hole between the lower chambers of the heart, also known as a ventricular septal defect. Or there may be only one large vessel rather than two vessels leading out of the heart, also known as truncus arteriosus. Or there may be four problems with heart structure, also known as tetralogy of Fallot.

• #8 22q Deletion Syndrome (DiGeorge Syndrome) | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/22q-deletion-syndrome

  The majority of these patients also have congenital heart defects, most often these are conotruncal abnormalities: Tetralogy of Fallot, Interrupted aortic arch, Ventricular septal defect (VSD), Vascular ring, Truncus arteriosus. […] Some of the other common problems include: Feeding difficulties, including nasal regurgitation of food and fluids, vomiting, gastroesophageal reflux (GERD), Hypocalcemia, Gastrointestinal problems, including constipation, and GERD, Immune system disorders, including recurrent ear infections and sinusitis, respiratory infections, and autoimmune diseases, Kidney disorders approximately 35 percent of these patients may have a missing or malformed kidney, ENT problems, including laryngeal webs and external ear anomalies, Asymmetric crying facies, Cleft lip and palate, Orthopedic issues, such as scoliosis, club feet, or cervical spine abnormalities, Inguinal, umbilical and diaphragmatic hernias, Growth problems, sometimes associated with growth hormone deficiency, Developmental delays, including both language and motor skills delays, Autism, Obsessive-compulsive disorder (OCD).

• #9 DiGeorge syndrome – Wikipedia

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

  Affected individuals may also have other kinds of birth defects including kidney abnormalities and significant feeding difficulties as babies. Gastrointestinal issues are also very common in this patient population. Digestive motility issues may result in constipation. […] Symptoms shown to be common include: Congenital heart disease (40% of individuals), particularly conotruncal malformations (interrupted aortic arch (50%), persistent truncus arteriosus (34%), tetralogy of Fallot, and ventricular septal defect), Learning difficulties (90%), including cognitive deficits, attention deficit disorders. […] This syndrome is characterized by incomplete penetrance. Therefore, there is a marked variability in clinical expression between the different patients. This often makes early diagnosis difficult.

• #10 22q deletion Syndrome (DiGeorge syndrome, VCFS) – Children’s Health

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

  22q11.2 deletion syndrome, or 22q, alternatively known as DiGeorge syndrome (DGS) and VeloCardiofacial syndrome (VCFS), is caused by a chromosome abnormality. All 22q deletion (DiGeorge syndrome, VCFS) patients have a small missing piece in one copy of chromosome number 22. This missing piece includes an estimated 30 to 40 genes. Missing a section of chromosome 22 has the potential to affect many parts of the body and can cause a wide range of health problems, so individuals with 22q deletion (DiGeorge syndrome, VCFS) may experience different symptoms. […] […] What are the signs and symptoms of 22q deletion syndrome (DiGeorge syndrome VCFS)? […] Distinctive facial appearance – Including an underdeveloped chin, heavy-lidded eyes and ears that are rotated back and low-set. […] Heart defects – Defects usually involve the aorta and the part of the heart from which the aorta develops. In some patients, heart defects may be mild or absent. […] Parathyroid gland abnormalities – The parathyroids control the normal metabolism of calcium and phosphorus. These glands may be underdeveloped in patients with 22q deletion syndrome (DiGeorge syndrome, VCFS), causing hypoparathyroidism. People with 22q deletion syndrome (DiGeorge syndrome, VCFS) may have trouble maintaining normal levels of calcium, and this may cause seizures. […] Short stature – Certain children with 22q deletion syndrome (DiGeorge syndrome, VCFS) may be deficient in growth hormone, which can present with short stature or growth failure. […] Speech and feeding – Patients with 22q deletion syndrome (DiGeorge syndrome, VCFS) may have a cleft palate or poor function of the palate resulting in speech differences, delayed speech and difficulty feeding and swallowing. […] Developmental and behavioral challenges – Not uncommonly, patients may have learning differences, behavioral problems, hyperactivity and psychiatric disorders, including anxiety and schizophrenia. […] Thymus gland abnormalities – The thymus is critical in the development of the immune system. Patients with a small thymus produce fewer T-lymphocytes than those with a normally sized thymus. The T-lymphocyte defect varies from patient to patient. In a very small number of patients with 22q deletion syndrome (DiGeorge syndrome, VCFS), the thymus is completely absent, so patients are more susceptible to infection due to low T-cell count. The majority of patients with 22q deletion syndrome (DiGeorge syndrome, VCFS) have less severe or mild deficiencies. […] Thyroid gland abnormalities – The thyroid gland makes a hormone (chemical in the blood) important to normal brain development for babies and important for a child’s energy levels and metabolism as a child gets older. Thyroid levels can be too high or too low in children with 22q deletion syndrome (DiGeorge syndrome, VCFS).

• #11 DiGeorge syndrome (22q11.2 deletion syndrome) – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/digeorge-syndrome-22q11-2-deletion-syndrome/

  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. […] Signs and symptoms of DiGeorge syndrome (22q11.2 deletion syndrome) can vary in type and severity, depending on what body systems are affected and how severe the defects are. Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood. […] Signs and symptoms may include some combination of the following: Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect, Frequent infections, Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip, A gap in the roof of the mouth (cleft palate) or other problems with the palate, Delayed growth, Difficulty feeding, failure to gain weight or gastrointestinal problems, Breathing problems, Poor muscle tone, Delayed development, such as delays in rolling over, sitting up or other infant milestones, Delayed speech development or nasal-sounding speech, Learning delays or disabilities, Behavior problems.

• #12 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. […] DGS is a form of primary immunodeficiency (PI) characterized by: Heart defects. Small or absent parathyroid glands, which control calcium levels. Small or absent thymus gland, which makes T cells (a type of white blood cell that fights infections). […] Infants born with heart defects may require surgery. If the parathyroid glands are small, calcium levels in the blood can be dangerously low, resulting in seizures (patients require treatment with calcium supplements). If the thymus size is small, infants may have lower T cell numbers than normal. In the rare situation in which the thymus is absent at birth (1% of cases), the infant will not have any T cells to fight infections and have a life-threatening immunodeficiency.

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

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

  Children with DGS can have a wide range of presentations and can range from having mild to severe immunodeficiency. The term DGS is used most commonly for individuals with T cells below the 10th percentile for age. […] Of children with DGS, only 1% have no thymus, known as congenital athymia, and, thus, no T cells. These patients are said to have complete DGS. These children have life-threatening infections and need treatment with engineered human thymus tissue implanted in the thigh muscle, manufactured under the name Rethymic. […] Congenital athymia is an ultra-rare condition in which children are born without a thymus, causing severe immune deficiency and dysregulation. The most severe forms of DiGeorge syndrome (known as „complete DiGeorge syndrome” or „complete DiGeorge anomaly”) include congenital athymia.

• #14 Developmental Trajectories in 22q11.2 Deletion

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5061035/

  The majority of patients with 22q11.2DS have an intellectual level that falls in the borderline range (IQ 7084), and about one-third have mild to moderate intellectual disability. More severe levels of intellectual disability are uncommon in children and adolescents but are more frequent in adults. […] Individuals with 22q11.2DS are at an increased risk for developing several psychiatric disorders including attention deficit with hyperactivity disorder (ADHD), autism spectrum disorder (ASD), anxiety and mood disorders, and psychotic disorders and schizophrenia. […] The presence and severity of associated features varies by age and the focus changes over time. […] In childhood, major phenotypic physical features involve: congenital heart defects, most often conotruncal cardiac anomalies, immunodeficiency including T-cell lymphopenia, IgA deficiency, delayed IgG production, humoral defects and autoimmune disease, and palatal anomalies, including VPI, overt cleft palate, cleft lip with or without cleft palate, and Pierre Robin, in three-quarters of patients; hypocalcemia/hypoparathyroidism in half of patients often presenting in the neonatal period or initially/as a recurrence during times of stress such as during puberty, illness or perioperatively; and genitourinary problems such as renal anomalies/agenesis, hydronephrosis, cryptorchidism, hypospadias, absent uterus, and gastrointestinal differences including gastroesophageal reflux disease, severe dysphagia, and constipation in one-third of patients.

• #15 22q11.2 deletion syndrome | MedLink Neurology

  https://www.medlink.com/articles/22q11-2-deletion-syndrome

  Defects in T-cell production and function (secondary to thymic aplasia or hypoplasia) are present in 25% to 75% of patients. […] Short stature is present in approximately one-third of individuals. […] Seizures were reported in approximately 21% of individuals in one large series. […] Individuals with DiGeorge and velocardiofacial syndrome are at risk of developing a range of psychiatric illnesses, most often appearing late in adolescence or early adulthood. […] Prognosis in the neonatal period usually depends on the severity of the cardiac malformation, if present, and immune function. […] Most individuals will have some degree of developmental delay and learning disabilities; however, a great degree of variability exists between and within families. […] Approximately 10% to 30% of individuals will develop psychiatric illness ranging from mild depression to frank psychosis. […] Life expectancy is reduced for patients compared to unaffected family members.

• #16 DiGeorge syndrome (22q11.2 deletion syndrome) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543

  22q11.2 deletion syndrome can cause parathyroid glands to be smaller than usual and produce too little parathyroid hormone. This leads to hypoparathyroidism. This condition results in low levels of calcium and high levels of phosphorus in the blood. […] In children with 22q11.2 deletion syndrome, the thymus gland may be small or missing. This leads to poor immune function and frequent, severe infections. […] A common condition of 22q11.2 deletion syndrome is a cleft palate, which is an opening in the roof of the mouth, with or without a cleft lip. Other, less visible problems with the structure of the palate can make it hard to swallow or make certain sounds in speech. […] 22q11.2 deletion syndrome may cause problems with development and function of the brain, resulting in learning, social, developmental or behavioral problems. Delays in toddler speech development and finding it hard to learn are common. Some children develop attention-deficit/hyperactivity condition (ADHD) or autism spectrum disorder. Later in life, the risk of depression, anxiety and other mental health conditions is higher. […] People with 22q11.2 deletion syndrome also may have a greater risk of getting autoimmune conditions, such as rheumatoid arthritis or Graves’ disease. […] Many medical conditions may be related to 22q11.2 deletion syndrome, such as hearing problems, eye problems and poor kidney function.

• #17 Developmental Trajectories in 22q11.2 Deletion

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5061035/

  The majority of patients with 22q11.2DS have an intellectual level that falls in the borderline range (IQ 7084), and about one-third have mild to moderate intellectual disability. More severe levels of intellectual disability are uncommon in children and adolescents but are more frequent in adults. […] Individuals with 22q11.2DS are at an increased risk for developing several psychiatric disorders including attention deficit with hyperactivity disorder (ADHD), autism spectrum disorder (ASD), anxiety and mood disorders, and psychotic disorders and schizophrenia. […] The presence and severity of associated features varies by age and the focus changes over time. […] In childhood, major phenotypic physical features involve: congenital heart defects, most often conotruncal cardiac anomalies, immunodeficiency including T-cell lymphopenia, IgA deficiency, delayed IgG production, humoral defects and autoimmune disease, and palatal anomalies, including VPI, overt cleft palate, cleft lip with or without cleft palate, and Pierre Robin, in three-quarters of patients; hypocalcemia/hypoparathyroidism in half of patients often presenting in the neonatal period or initially/as a recurrence during times of stress such as during puberty, illness or perioperatively; and genitourinary problems such as renal anomalies/agenesis, hydronephrosis, cryptorchidism, hypospadias, absent uterus, and gastrointestinal differences including gastroesophageal reflux disease, severe dysphagia, and constipation in one-third of patients.

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

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

  Heart defects at birth often need to be repaired by heart surgery. […] 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. […] Learning disabilities are common. Most children with DGS take longer than usual to learn to talk. Math is particularly difficult. […] Psychiatric disease can develop in adolescents and adults. Two common conditions are schizophrenia and bipolar disorder in individuals with 22q11.2DS.

• #19

  https://www.singhealth.com.sg/patient-care/conditions-treatments/22q112-deletion-syndrome

  Congenital heart defects. A number of heart defects are associated with 22q11.2DS, such as: A hole between the lower chambers of the heart (ventricular septal defect), Having only one large vessel, instead of two, leading out of the heart (truncus arteriosus), A combination of four abnormal heart structures (tetralogy of Fallot). […] Weaker immune system function. This makes it difficult for the body to fight infections. […] Hypoparathyroidism. The four parathyroid glands located in the neck regulate the calcium level in the body. Smaller-than-normal parathyroid glands can be seen in 22q11.2DS. This causes low levels of the parathyroid hormone resulting in low levels of calcium and high levels of phosphate in the blood. […] Learning difficulties, and behavioural and mental health issues. Delays in speech development and learning difficulties can be seen. Attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder may develop in some children. There is also a greater risk of depression, schizophrenia and anxiety disorders later in life.

• #20 22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Boston Children’s Hospital

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

  22q11.2 deletion syndrome is a genetic condition that causes a combination of medical problems. These problems can vary widely from child to child, but may include heart defects, cleft palate, speech or feeding problems, difficulty fighting infections, low calcium levels, kidney problems, learning or behavioral issues, and facial differences. […] Children with 22q11.2 deletion syndrome can have a wide range of signs and symptoms, with differing degrees of severity. Some babies show signs of the condition at birth and others are diagnosed in the first few years of life. […] Common symptoms include: Heart problems, Low muscular tone, Speech difficulties, Middle ear infections or hearing loss, Vision problems, Feeding problems, Frequent infections, Learning disorders, especially with visual materials, Developmental delays, Communication and social interaction problems, Psychiatric issues.

• #21 22q11 deletion syndrome: Medical features

  https://www.aboutkidshealth.ca/22q11-deletion-syndrome-medical-features

  Some babies with 22q11DS are born with a cleft palate (a hole in the roof of the mouth). Others have less obvious palate malformations that result in escape of liquid, food or air through the nostrils. […] The immune system helps the body to fight infections. Babies with 22q11DS may experience repeated infections (such as ear infections or pneumonia), due to a weaker immune system. […] About half of children with 22q11DS will have lower than normal levels of calcium in their blood. […] The thyroid is a gland in the neck that helps control many functions in the body, including energy level, growth, weight, body temperature and digestion. […] Children with 22q11DS may develop a low platelet count, which can be checked by a blood test. […] Children with 22q11DS may be born with kidney anomalies, such as a small kidney or only a single kidney (one kidney instead of two), kidney cysts (fluid-filled pockets) or a kidney that is shaped differently.

• #22 Orphanet: 22q11.2 deletion syndrome

  https://www.orpha.net/en/disease/detail/567

  A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. […] 22q11.2 deletion syndrome shows a variable clinical phenotype that can range from mild to severe. Congenital heart defects (two-thirds of cases) include mainly conotruncal malformations such as ventricular septal defect, truncus arteriosus, tetralogy of Fallot and interrupted aortic arch. Anomalies of the aortic arch and vascular ring are frequent. More than 65% of patients present with palatal anomalies (e.g. velopharyngeal incompetence, submucous cleft palate or bifid uvula) that may lead to hypernasal speech and feeding difficulties. Overt cleft palate and cleft lip are less frequent. Most patients display subtle but recognizable facial features (e.g. ptosis, hypertelorism, epicanthal folds, prominent nasal root, malar flatness, small ears). Immune deficiency is the consequence of thymic aplasia/hypoplasia and improvement in T-cell production occurs over time. Patients have a higher risk of developing an autoimmune disease such as idiopathic thrombocytopenic purpura and juvenile idiopathic arthritis. Hypocalcemia as a consequence of hypoparathyroidism is frequent in the neonatal period and usually resolves but can reappear at any age. Additional clinical findings may include gastrointestinal anomalies (intestinal malrotation, imperforate anus), hearing loss, renal anomalies (renal agenesis), dental anomalies (enamel hypoplasia), and skeletal anomalies (scoliosis, clubfoot). Learning difficulties and developmental delay are almost always present. Psychiatric illness (anxiety, depression, schizophrenia) and Parkinson’s disease are more frequent than in the general population.

• #23 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. […] DiGeorge syndrome can cause a range of problems, but most people will not have all of these. […] Some of the most common issues are: learning and behaviour problems including delays in learning to walk or talk, learning disabilities and problems such as attention deficit hyperactivity disorder (ADHD) or autism. […] speech and hearing problems including temporary hearing loss due to frequent ear infections, being slow to start talking and having a „nasal-sounding” voice. […] mouth and feeding problems including a gap in the top of the mouth or lip (cleft lip or palate), difficulty feeding and sometimes bringing food back up through the nose.

• #24 DiGeorge Syndrome Clinical Presentation: History, Physical Examination, Complications

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

  Significant feeding difficulties are present in about 36% of patients. These may be due to poor sucking and nasal regurgitation due to VPI or a submucous cleft palate. The swallowing problem usually resolves by the end of the first year, leaving the child with hypernasal speech as the major remaining manifestation. […] Developmental delay and learning difficulties are observed in 70-90% of patients with 22q11.2DS. In infancy, developmental milestones are achieved later than expected for age. Delayed language acquisition is often seen in older children. […] Behavioral and psychiatric problems may be observed in patients with 22q11.2DS. Children and adults have high rates of behavioral, psychiatric, and communication disorders. […] Main problems are with parathyroid deficiency: Hypocalcemia, Nephrocalcinosis, Tetany: Neonatal tetany has been reported as a result of hypocalcemia.

• #25 DiGeorge syndrome (22q11.2 deletion syndrome) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543

  Symptoms of DiGeorge syndrome may include: Heart issues, such as problems with the structure of the heart and vessels, or a heart murmur and bluish skin because of poor circulation of blood, also known as cyanosis. Frequent infections. Distinctive facial features, such as an underdeveloped chin, ears that look different, wide-set eyes, hooded eyes and an enlarged nose tip. Asymmetric crying facies also may be present. This is when muscles on one side of the mouth don’t develop fully, causing that side of the mouth to droop when crying, though the face looks balanced at rest. A gap in the roof of the mouth, also known as a cleft palate, or other problems with the palate. A hard time feeding, failure to gain weight or stomach problems. Hearing loss. Poor muscle tone. Kidney problems. Poor vision and other eye problems. Low levels of calcium in the blood. Scoliosis.

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

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

  A deletion on chromosome 22 can cause symptoms that affect the function of your immune system. […] A deletion of part of chromosome 22 can cause physical symptoms that include: Hearing loss, Spine curvature (scoliosis), Vision loss, Testes don’t descend (cryptorchidism), Small adenoids and missing or small tonsils, Breathing difficulties, Lower-than-normal levels of calcium in your blood (hypocalcemia), Kidney structure and function abnormalities, Endocrine system (hormone) function abnormalities, Feeding difficulties during infancy. […] DiGeorge syndrome can also cause unique facial features that include: Hooded eyelids, Flat cheeks, A prominent or bulbous nose, An underdeveloped chin, Ears with attached lobes, Cleft lip and palate. […] DiGeorge syndrome is a lifelong condition without a cure. Your outlook depends on the severity of your symptoms. Some of your symptoms could be life-threatening, especially if they affect your heart. With ongoing treatment and support, adults diagnosed with DiGeorge syndrome live active and fulfilling lives with limited interruption from their condition. […] Most people diagnosed with DiGeorge syndrome have a normal life expectancy with mild symptoms. Severe symptoms can lead to a shortened life expectancy without treatment.

• #27 22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Boston Children’s Hospital

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

  Facial features may include: Small ears with squared upper ear, Hooded eyelids, Cleft palate, Asymmetric facial appearance when crying, Small mouth, chin, and side areas of the nose tip. […] 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, 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. […] Children with 22q11.2 deletion syndrome may have a variety of developmental delays and behavioral challenges, some unique to 22q11.2 deletion, and others that are more common.

• #28 22q11.2 Deletion Syndrome: Signs, Diagnosis and Treatment | OHSU

  https://www.ohsu.edu/doernbecher/22q112-deletion-syndrome

  Children with this syndrome often have unusual facial features or skeletal differences. These signs are easy for providers to recognize as possible signs of the syndrome. They may include: Small ears with a square-shaped upper ear, Hooded eyelids, Cleft palate, perhaps with cleft lip, Uneven facial appearance when crying, Small mouth, chin and side of the tip of the nose, Extra fingers or toes. […] Other signs may not be visible right away or may not be recognized as signs of 22q11.2 deletion syndrome. These may include: Congenital heart defects, some of which we can treat with surgery, Repeat ear infections or hearing loss, Problems with feeding, digestive issues or not gaining weight, Trouble breathing, Poor muscle tone, Delayed infant milestones like rolling over or sitting up, Delayed speech or nasal-sounding speech, Delayed growth, Learning delays or disabilities, Behavioral, emotional or attention issues at older ages. […] There is no cure for 22q11.2 deletion syndrome, but many of the health issues it causes can be treated. Because patients have such varied symptoms, a team-based approach to treatment is best.

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

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

  DiGeorge syndrome is a genetic condition caused by a missing piece of chromosome 22. Another name for DiGeorge syndrome is 22q11.2 deletion syndrome. Symptoms can affect your heart, immune system and other body systems, and cause distinct facial characteristics. Treatment to manage your symptoms is lifelong and there’s no cure for the condition. […] Symptoms of DiGeorge syndrome can range from mild to severe. The most severe symptoms can be life-threatening. […] The classic features are problems with the heart, underdeveloped thymus and decreased calcium levels. […] Symptoms that affect your heart can be life-threatening. […] Symptoms of 22q11.2 deletion syndrome can affect the function and development of your brain and could include: Anxiety and/or depression, Attention-deficit/hyperactivity disorder, Autism spectrum disorder, Challenges with cognitive development and behavior, Developmental delays, including fine motor skills, speech and language, Schizophrenia, Seizures.

• #30 Developmental Trajectories in 22q11.2 Deletion

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5061035/

  The considerable morbidity associated with 22q11.2DS in the face of extremely wide variability poses significant challenges for both individual and population based health care management. […] Developmental and educational concerns are frequently reported in 22q11.2DS. One of the first and most important questions parents and care-givers ask of children with 22q11.2DS is what the impact will be of the 22q11.2 deletion on the global cognitive development. […] The level of intelligence in children and adolescents with 22q11 DS is highly variable and follows a normal distribution (similar to the IQ distribution in the general population), but is shifted about 30 IQ points to the left. […] The average mean full scale IQ is in the mid-seventies (7075) with about 55% having a borderline to normal intelligence (FSIQ 70) and about 45% having a mild (to moderate) intellectual disability (ID) (FSIQ 5570) and a minority experiencing moderate to severe intellectual disability.

• #31 Developmental Trajectories in 22q11.2 Deletion

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5061035/

  Current findings indicate that the genetic architecture of ID is complex, consistent with other neurodevelopmental disorders, with an important role for rare variants with large effects. […] In the 22q11DS literature, several factors have been put forward to explain this wide variability in IQ: origin of the deletion (patients with a familial deletion have been associated with lower IQ scores as compared to de novo deletions), genetic variation within the 22q11.2 region, and environmental factors such as socioeconomic status and parental IQ and siblings IQ. […] Several other possible factors that contribute to this variability in IQ have not been systematically studied yet and therefore should be the focus of future research. […] A recent collaborative study by the international 22Q11 Brain Behavior Consortium on the (longitudinal) cognitive development of 829 patients ages 824 years, showed that on average children with 22q11DS show a cognitive decline of 7 FSIQ-points or 9 VIQ-points. […] In the subgroup that developed psychotic symptoms, this decline was significantly steeper. […] Given the increased risk for developing behavioral problems and psychiatric disorders, early psychological/psychiatric follow-up and intervention is warranted in individuals with 22q11 DS.

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

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

  There is a well-established association between 22q11.2DS and schizophrenia. Approximately one in every four to five adults with 22q11.2DS will develop this serious mental illness, usually in late adolescence or early adulthood. […] The elevated risk for psychotic illness in 22q11.2DS prompts questions about prevention, early signs, diagnosis, and treatment. […] Other nonpsychotic, treatable psychiatric illnesses are collectively more common in 22q11.2DS than is schizophrenia, and the incidence of some may be higher even than the high rates of these conditions in the general population. […] Most patients with 22q11.2DS have an intelligence quotient in the borderline range (70-84), and 30-40% have mild intellectual disability (intelligence quotient: 55-69). […] Single and recurrent seizures are common across the life span and may be unprovoked or related to identifiable factors, especially hypocalcemia.

• #33 DiGeorge syndrome (22q11.2 deletion syndrome) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543

  22q11.2 deletion syndrome can cause parathyroid glands to be smaller than usual and produce too little parathyroid hormone. This leads to hypoparathyroidism. This condition results in low levels of calcium and high levels of phosphorus in the blood. […] In children with 22q11.2 deletion syndrome, the thymus gland may be small or missing. This leads to poor immune function and frequent, severe infections. […] A common condition of 22q11.2 deletion syndrome is a cleft palate, which is an opening in the roof of the mouth, with or without a cleft lip. Other, less visible problems with the structure of the palate can make it hard to swallow or make certain sounds in speech. […] 22q11.2 deletion syndrome may cause problems with development and function of the brain, resulting in learning, social, developmental or behavioral problems. Delays in toddler speech development and finding it hard to learn are common. Some children develop attention-deficit/hyperactivity condition (ADHD) or autism spectrum disorder. Later in life, the risk of depression, anxiety and other mental health conditions is higher. […] People with 22q11.2 deletion syndrome also may have a greater risk of getting autoimmune conditions, such as rheumatoid arthritis or Graves’ disease. […] Many medical conditions may be related to 22q11.2 deletion syndrome, such as hearing problems, eye problems and poor kidney function.

• #34 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. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. […] The multisystem nature and associated burden of morbidities means that adults with 22q11.2DS may be seen in virtually any medical practice. […] The phenotypes associated with 22q11.2DS are highly variable in number and severity, even within families and between monozygotic twins. […] Neuropsychiatric diseases comprise the most common group of later-onset conditions in 22q11.2DS, are typically of greatest concern to patients and their families because of their seriousness and the associated stigma, are most likely to bring adolescent and adult patients (back) to medical attention and to affect the individuals daily functioning, and may constitute a management challenge.

• #35 Various Psychiatric Manifestation in DiGeorge Syndrome (22q11.2 Deletion Syndrome): A Case Report

  https://www.cpn.or.kr/journal/view.html?doi=10.9758/cpn.2020.18.3.458

  Various psychiatric symptoms and treatment course in a female patient with DiGeorge syndrome were described. […] This patient showed psychotic symptoms, mood symptoms, and intellectual disability. […] Patients with DiGeorge syndrome need to be importantly concerned in the psychiatric area because they can manifest various psychiatric diseases such as autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), intellectual disability, mood and anxiety disorder, and schizophrenia. […] In summary, psychotic symptoms occurred at age 39 for the first time. […] She showed various psychotic symptoms, manic and depressive symptoms, violent behavior, impulsivity, intermittent anxiety, and intellectual disability. […] 22q11.2 deletion syndrome is an ultra-high-risk status and is known to be highly susceptible to psychosis.

• #36 22q11.2 deletion: the most common syndrome you have never heard of

  https://theconversation.com/22q11-2-deletion-the-most-common-syndrome-you-have-never-heard-of-76124

  22q has one of the highest prevalences of developmental delay and congenital heart disease, second only to Downs syndrome. […] 22q also puts individuals at increased risk of schizophrenia. In the general population, 1-2% of people have schizophrenia. In 22q, this rate is higher, at around 25-30% of people. […] Other psychiatric disorders are more prevalent in 22q as well, including anxiety disorders, attention-deficit hyperactivity disorder (ADHD) and autism. Epilepsy and impaired motor coordination are also common. […] Immediate life threatening heart defects at birth, and developmental delay and sensory processing problems can aggregate in childhood. The emergence of hallucinations and delusions in early adolescence can manifest into schizophrenia and anxiety, which can have a debilitating impact in adulthood. […] The cocktail of problems faced everyday makes for a hard pill to swallow and are difficult to ignore.

• #37 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. […] Cleft palate, delayed acquisition of speech, difficulty in feeding and swallowing, hearing, learning disabilities, behavioural problems, hyperactivity and psychiatric disorders are all features of this multi-system condition. […] Such is the immense variability of 22q however that there are cases where very few physical symptoms are present. Some children are diagnosed because of speech and language delay or emotional/behavioural problems that prove problematic in school. […] As children age ongoing concerns revolve around mental health and uncertainties about the future in areas of work, relationships and independent living.

• #38 Various Psychiatric Manifestation in DiGeorge Syndrome (22q11.2 Deletion Syndrome): A Case Report

  https://www.cpn.or.kr/journal/view.html?doi=10.9758/cpn.2020.18.3.458

  This case showed psychotic symptoms, such as persecutory delusion, delusion of infidelity, and grandiose delusion. […] Various psychiatric symptoms and atypical clinical course leaded to diagnosis of DiGeorge syndrome. […] Diagnosis of DiGeorge syndrome was helpful to understand various psychiatric manifestations.

• #39 DiGeorge syndrome (22q11 deletion)

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

  heart problems some children and adults have heart defects from birth (congenital heart disease). […] hormone problems underdeveloped parathyroid glands produce too little parathyroid hormone (hypoparathyroidism), which can lead to problems such as shaking (tremors) and seizures (fits). […] Other possible problems include: a higher risk of getting infections such as ear infections, oral thrush and chest infections because the immune system (the body’s natural defence against illness) is weaker than normal. […] bone, muscle and joint problems including leg pains that keep coming back, an unusually curved spine (scoliosis) and rheumatoid arthritis. […] short stature children and adults may be shorter than average. […] mental health problems adults are more likely to have problems such as schizophrenia and anxiety disorders.

• #40 22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Texas Children’s

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

  Common complications include: Heart defects, which can be severe including tetralogy of Fallot, truncus arteriosus, ventricular septal defect, or others; Cleft palate; Facial features such as almond-shaped eyes, hooded eyelids, small mouth and underdeveloped chin, small ears; Frequent infections caused by immune system problems; Low levels of calcium in the blood leading to seizures; Feeding difficulties or gastrointestinal problems; Speech difficulties; Hearing loss; Kidney abnormalities, including a malformed or missing kidney; Spine abnormalities such as curvature of the spine (scoliosis); Developmental delays, including delayed growth and speech; Learning disabilities; Thrombocytopenia (low platelet count); Breathing difficulties caused by palate abnormalities; Mild intellectual disability; Increased risk of attention deficit hyperactivity disorder (ADHD), autism and mental health issues, including schizophrenia.

• #41 22q11.2 Deletion Syndrome in Children – Stanford Medicine Children’s Health

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

  The most common symptoms include: Heart defects. These are usually present from birth (congenital). Mouth problems. These include cleft palate and a palate that does not move normally (velopharyngeal insufficiency). These can cause speech problems. Ear problems. This includes middle ear infections or hearing loss. Low levels of calcium in the blood. This is caused by problems with the parathyroid glands and can trigger seizures. Immune system problems. These can increase the risk for infections. Spine problems. These include curvature of the spine (scoliosis) and problems with the bones of the neck or upper back. Learning problems. These include delays in development and speech. Communication and social problems. This includes autism. Increased risk for mental illness. This includes anxiety, depression, or schizophrenia in adulthood. Feeding difficulties. These may occur because of a cleft palate, gastroesophageal reflux, or other issues. Kidney problems. These may include an abnormally shaped kidney or a missing kidney.

• #42 22q11 deletion syndrome: Medical features

  https://www.aboutkidshealth.ca/22q11-deletion-syndrome-medical-features

  Some infants and children with 22q11DS have feeding and swallowing difficulties because they are unable to co-ordinate the different muscles involved in swallowing. […] Many children with 22q11DS have problems with their digestive system. […] Seizures can occur if calcium levels drop too low (hypocalcemic seizures). […] Children with 22q11DS tend to be prone to multiple cavities despite regular brushing. […] Some children with 22q11DS develop mild to moderate hearing loss, which can contribute to delayed speech development. […] Some children may require glasses for reading or distance. […] Babies with 22q11DS may experience delays in reaching their gross and fine motor milestones (like rolling sitting, walking and strengthening hand grip). […] Toddlers and preschool-aged children with 22q11DS almost always have delays in speech and language. […] The majority of children with 22q11DS will experience learning difficulties, and may require extra support in the classroom, especially in the areas of math and reading comprehension. […] Children with 22q11DS may experience mental health disorders, such as ADHD and anxiety.

• #43 DiGeorge syndrome (22q11 deletion)

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

  As someone with DiGeorge syndrome gets older, some symptoms, such as heart and speech problems, tend to become less of an issue. However, behavioural, learning, and mental health problems can continue to affect their daily life. […] Many people with DiGeorge syndrome who reach adulthood will have a relatively normal life span, but ongoing health problems can sometimes mean their life expectancy is a bit lower than usual.

• #44 22Q11.2 Deletion Syndrome: Common but Underrecognized | Children’s Hospital of Philadelphia

  https://www.chop.edu/news/22q112-deletion-syndrome-common-underrecognized

  Following the diagnosis, Peter was found to have growth hormone deficiency, idiopathic scoliosis, recurrent patellar subluxation, ADHD, anxiety, insomnia, and a nonverbal learning disability with strengths in reading and rote memorization and deficits in mathematics and abstract reasoning. […] 22q11.2 deletion syndrome is the most common microdeletion, identified in 1 in 992 pregnancies and 1 in 2,148 live births, resulting in loss of ~50 genes leading to significant morbidity and some mortality. […] Importantly, 22q11.2DS is common. It is the most common cause of syndromic palatal abnormalities and schizophrenia, and the second most common cause of congenital heart disease and developmental delay after Down syndrome. […] The presence of associated features varies by age and the focus changes over time, with an emphasis on managing congenital anomalies, particularly congenital heart disease, associated medical issues, such as recurrent infection, hypocalcemia, feeding and swallowing difficulties, delays in acquisition of motor milestones and language, in early childhood; optimizing speech and addressing cognitive challenges in early school age; and shifting attention to behavioral differences, independence, later onset conditions, and the 50% recurrence risk in adolescences and adulthood.

• #45 DiGeorge syndrome (22q11.2 deletion syndrome) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543

  Other symptoms may include: Delayed growth. Delayed development, such as delays in rolling over, sitting up or other infant milestones. Delayed speech development or nasal-sounding speech. Learning delays or disabilities. Behavioral problems. […] The portions of chromosome 22 missing in DiGeorge syndrome affect the development of several body systems. As a result, the condition can cause several errors during fetal development. […] 22q11.2 deletion syndrome often causes heart problems that could lead to too little oxygen-rich blood. For example, problems may include a hole between the lower chambers of the heart, also known as a ventricular septal defect. Or there may be only one large vessel rather than two vessels leading out of the heart, also known as truncus arteriosus. Or there may be four problems with heart structure, also known as tetralogy of Fallot.

• #46 DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis – UpToDate

  https://www.uptodate.com/contents/digeorge-22q11-2-deletion-syndrome-clinical-features-and-diagnosis

  The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia, and they are diagnosed in early life. However, the phenotype is quite variable, and there may be marked differences between affected persons, even within a single family. A broad spectrum characterizes the presence and severity of individual features, and the severity of each feature appears to be independent of other features. Older children with DGS may be detected through clinics for congenital heart defects or craniofacial clinics, may be referred to developmental specialists for poor school performance, or may be diagnosed due to frequent infections or autoimmune conditions.

• #47 Developmental Trajectories in 22q11.2 Deletion

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5061035/

  Chromosome 22q11.2 deletion syndrome (22q11.2DS), a neurogenetic condition, is the most common microdeletion syndrome affecting 1 in 2,0004,000 live births and involving haploinsufficiency of 50 genes resulting in a multisystem disorder. […] Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities, most frequently velopharyngeal incompetence (VPI); immunodeficiency; hypocalcemia due to hypoparathyroidism; genitourinary anomalies; severe feeding/gastrointestinal differences; and subtle dysmorphic facial features. […] The neurocognitive profile is also highly variable, both between individuals and during the course of development. From infancy onward, motor delays (often with hypotonia) and speech/language deficits are commonly observed. During the preschool and primary school ages, learning difficulties are very common.

• #48 22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Boston Children’s Hospital

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

  Facial features may include: Small ears with squared upper ear, Hooded eyelids, Cleft palate, Asymmetric facial appearance when crying, Small mouth, chin, and side areas of the nose tip. […] 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, 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. […] Children with 22q11.2 deletion syndrome may have a variety of developmental delays and behavioral challenges, some unique to 22q11.2 deletion, and others that are more common.

• #49 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. […] Cleft palate, delayed acquisition of speech, difficulty in feeding and swallowing, hearing, learning disabilities, behavioural problems, hyperactivity and psychiatric disorders are all features of this multi-system condition. […] Such is the immense variability of 22q however that there are cases where very few physical symptoms are present. Some children are diagnosed because of speech and language delay or emotional/behavioural problems that prove problematic in school. […] As children age ongoing concerns revolve around mental health and uncertainties about the future in areas of work, relationships and independent living.

• #50 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. […] For all infants with DGS, a multidisciplinary team is the preferred form of care. […] For the 99% of infants with DGS who have T cells, the immune system is not a major problem. […] An immunologist should assess each child periodically to confirm that the T cell numbers remain adequate. […] Some children with very mild forms of DGS are diagnosed later in life due to speech abnormalities or other subtle findings, while others have varying degrees of impairment in any combination of the following aspects of DGS.

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

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

  Hypocalcemia occurs in the majority of patients with 22q11.2DS and may arise at any age, especially after puberty. […] Congenital cardiac anomalies are common in patients diagnosed with 22q11.2DS as children and represent a chronic disease that requires regular follow-up during adulthood. […] Although reproductive fitness is reduced, romantic partnerships, sexual activity, and pregnancy are important aspects of adult life for many individuals with 22q11.2DS. […] Individuals with 22q11.2DS who survive childhood seem to be at increased risk of premature mortality as adults, but this mortality is not attributable to any single identifiable factor.

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

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

  Heart defects at birth often need to be repaired by heart surgery. […] 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. […] Learning disabilities are common. Most children with DGS take longer than usual to learn to talk. Math is particularly difficult. […] Psychiatric disease can develop in adolescents and adults. Two common conditions are schizophrenia and bipolar disorder in individuals with 22q11.2DS.

• #53 22q11.2 deletion syndrome | MedLink Neurology

  https://www.medlink.com/articles/22q11-2-deletion-syndrome

  Defects in T-cell production and function (secondary to thymic aplasia or hypoplasia) are present in 25% to 75% of patients. […] Short stature is present in approximately one-third of individuals. […] Seizures were reported in approximately 21% of individuals in one large series. […] Individuals with DiGeorge and velocardiofacial syndrome are at risk of developing a range of psychiatric illnesses, most often appearing late in adolescence or early adulthood. […] Prognosis in the neonatal period usually depends on the severity of the cardiac malformation, if present, and immune function. […] Most individuals will have some degree of developmental delay and learning disabilities; however, a great degree of variability exists between and within families. […] Approximately 10% to 30% of individuals will develop psychiatric illness ranging from mild depression to frank psychosis. […] Life expectancy is reduced for patients compared to unaffected family members.

• #54 22q11.2 Deletion Syndrome in Children – Stanford Medicine Children’s Health

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

  The symptoms of 22q11.2DS can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis. […] The syndrome has no cure. But many 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.

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

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

  The long-term outlook is highly dependent on the involved organ systems and the specific problems. In general, life expectancy can range from infancy to adulthood. In fact, many people may not realize that they have the disorder due to having very mild symptoms or impairments. These people can live through adulthood without consequence. […] Less than 1% of people have the most severe form of the condition. It involves a complete lack of the thymus gland, leading to severe combined immunodeficiency. Most infants who have this form do not survive past 12 months of age. A thymus transplant can improve survival, but the long-term outlook is still poor at this point. Most infants only live an additional year. However, research continues.

• #56 Orphanet: 22q11.2 deletion syndrome

  https://www.orpha.net/en/disease/detail/567

  The prognosis is variable and depends on the severity of the disease. The infant mortality rate is relatively low (~4%); in adults mortality is higher than that of the rest of the adult population. Most congenital malformations and medical problems can be managed. Prognosis in adults depends on the degree of autonomy.

• #57 DiGeorge syndrome (22q11 deletion)

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

  As someone with DiGeorge syndrome gets older, some symptoms, such as heart and speech problems, tend to become less of an issue. However, behavioural, learning, and mental health problems can continue to affect their daily life. […] Many people with DiGeorge syndrome who reach adulthood will have a relatively normal life span, but ongoing health problems can sometimes mean their life expectancy is a bit lower than usual.

• #58 DiGeorge syndrome (22q11 deletion) Life Expectancy, Symptoms

  https://www.emedicinehealth.com/what_is_digeorge_syndrome_life_expectancy/article_em.htm

  DiGeorge syndrome (22q11 deletion) is a rare primary immunodeficiency disease in children that causes low levels of a special type of white blood cell called a T cell that fights infections. […] In about 1-2% of cases, patients completely lack T cells, and the condition is called complete DiGeorge syndrome. Without treatment, life expectancy for some children with complete DiGeorge syndrome is two or three years. However, most children with DiGeorge syndrome that is not complete survive to adulthood. […] Many people with DiGeorge syndrome who reach adulthood will have a relatively normal life span, but continuing health problems may lower life expectancy. […] Symptoms of DiGeorge syndrome include: Higher risk of viral, fungal and bacterial infections. […] Problems with learning and behavior. […] Speech and hearing problems. […] Mouth and feeding problems. […] Heart problems. […] Hormonal problems. […] Bone, muscle, and joint problems. […] Short stature. […] Mental health problems.

• #59 Developmental Trajectories in 22q11.2 Deletion

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5061035/

  Current findings indicate that the genetic architecture of ID is complex, consistent with other neurodevelopmental disorders, with an important role for rare variants with large effects. […] In the 22q11DS literature, several factors have been put forward to explain this wide variability in IQ: origin of the deletion (patients with a familial deletion have been associated with lower IQ scores as compared to de novo deletions), genetic variation within the 22q11.2 region, and environmental factors such as socioeconomic status and parental IQ and siblings IQ. […] Several other possible factors that contribute to this variability in IQ have not been systematically studied yet and therefore should be the focus of future research. […] A recent collaborative study by the international 22Q11 Brain Behavior Consortium on the (longitudinal) cognitive development of 829 patients ages 824 years, showed that on average children with 22q11DS show a cognitive decline of 7 FSIQ-points or 9 VIQ-points. […] In the subgroup that developed psychotic symptoms, this decline was significantly steeper. […] Given the increased risk for developing behavioral problems and psychiatric disorders, early psychological/psychiatric follow-up and intervention is warranted in individuals with 22q11 DS.

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

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

  Hypocalcemia occurs in the majority of patients with 22q11.2DS and may arise at any age, especially after puberty. […] Congenital cardiac anomalies are common in patients diagnosed with 22q11.2DS as children and represent a chronic disease that requires regular follow-up during adulthood. […] Although reproductive fitness is reduced, romantic partnerships, sexual activity, and pregnancy are important aspects of adult life for many individuals with 22q11.2DS. […] Individuals with 22q11.2DS who survive childhood seem to be at increased risk of premature mortality as adults, but this mortality is not attributable to any single identifiable factor.

• #61 What Is DiGeorge Syndrome Life Expectancy? Symptoms

  https://www.medicinenet.com/what_is_digeorge_syndrome_life_expectancy/article.htm

  DiGeorge syndrome With appropriate treatment, most children with DiGeorge syndrome grow into adulthood; however, children with severe defects may not survive beyond two to three years. […] The life expectancy of people with DiGeorge syndrome varies depending on the severity of the condition and the treatment provided. With appropriate treatment, most children grow into adulthood. […] Surgical intervention may be required to treat congenital issues, such as heart defects. Children with severe heart defects and immune system problems may not survive beyond their second or third birthday. […] The symptoms of DiGeorge syndrome and their severity may vary with people. […] The syndrome can affect various organs and organ systems, leading to different signs and symptoms including: […] Immunodeficiency: The affected person may have varying degrees of immunodeficiency. People with complete DiGeorge syndrome have absent thymus that makes them extremely susceptible to infections. A thymus transplant is required for survival in such cases.

• #62 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. […] Medical challenges commonly associated with 22q11.2 DS include: Congenital heart defects, Frequent infections, Developmental delays or learning difficulties, Low levels of calcium in the blood which can cause seizures if untreated, Cleft palate and other facial abnormalities, Increased risk of mental health conditions, such as schizophrenia, ADHD, and autism spectrum disorders, Underdeveloped or absent thymus, Immune deficiencies, Gastrointestinal disorders. […] 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. […] Most people with 22q11.2 DS who receive ongoing healthcare and treatment from specialists have a normal life expectancy and achieve some degree of independence. A smaller percentage of affected babies have significant complications related to their hearts or immune systems that may be life-threatening.

• #63 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/

  Until recently, 22q11.2 syndrome was thought to affect 1 in 3000 to 1 in 6000 infants. […] However, a recent study has shown that 22q11.2 is much more common, occurring in 1 in 1,524 pregnancies. […] The number and severity of symptoms depends on the location and size of the deletion. […] 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.

• #64 22Q11.2 Deletion Syndrome: Common but Underrecognized | Children’s Hospital of Philadelphia

  https://www.chop.edu/news/22q112-deletion-syndrome-common-underrecognized

  Peters case shows that, although common, lack of recognition of associated features and/or lack of familiarity with genetic testing methodstogether with such wide variabilityoften delays diagnosis. Conversely, early identification has the potential to improve outcomes. […] 22q11.2DS is quite variable and can present with any combination of congenital anomalies, medical issues, cognitive deficits, behavioral differences, and later onset conditions.

• #65

• #66 22q deletion Syndrome (DiGeorge syndrome, VCFS) – Children’s Health

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

  The outlook for children with 22q deletion syndrome (DiGeorge syndrome, VCFS) depends on the function of each affected organ system. The severity of heart disease is usually the most important determining factor. Most children have a mild to moderate deficit in T-cell production that often improves with age. Most patients do not have recurrent infections in adulthood. […] Developmental delay, learning differences and problems with attention and behavior are common. Early childhood intervention, speech, occupational therapy (OT) and physical therapies (PT) can be very helpful. […] Neurocognitive evaluation as children get older and in school can assist parents and teachers by providing recommendations for clinical management and academic support in the future.

• #67

  https://www.singhealth.com.sg/patient-care/conditions-treatments/22q112-deletion-syndrome

  The features of 22q11.2DS can be very different even amongst people with the condition in the same family. […] The outlook for persons with 22q11.2DS varies depending on the severity of their congenital disabilities. Some of these conditions can be life-threatening. […] However, with ongoing treatment and support, many people with 22q11.2DS live active, fulfilling lives.

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