22q11.2 Deletion Syndromeenparentshttps://kidshealth.org/EN/images/headers/KH_generic_header_10_2.jpg22q11.2 deletion syndrome is a genetic condition that can cause a variety of physical and behavioral problems. 22q11.2 deletion syndrome, genetic condition, genetic, inherited, genes, genetic mutation, sindrome, syndrome, 22qDS, 22q, 22q11.2DS, DiGeorge syndrome, DiGeorge, Shprintzen Syndrome, autosomal dominant OpitzG, Cayler Cardiofacial Syndrome, cardiofacial, Conotruncal Anomaly Face Syndrome, Velocardiofacial Syndrome, 01/06/202001/10/202001/10/2020Brian C. Kellogg, MD and Ani Danelz, CCC-SLP01/01/20201bf829a7-037b-4c68-a28f-72e577da847ehttps://kidshealth.org/ws/RadyChildrens/en/parents/22q11-deletion.html/<h3>What Is 22q11.2 Deletion Syndrome?</h3> <p>22q11.2 deletion syndrome is a <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/about-genetics.html/">genetic</a> condition that some babies are born with. A genetic condition happens when there is a problem with a part of a child's DNA. 22q11.2 deletion syndrome can affect many different systems in the body. The problems it causes can range in severity.</p> <p>22q11.2 deletion syndrome is called <strong>22qDS</strong> or <strong>22q</strong> for short.</p> <h3>What Causes 22q11.2 Deletion Syndrome?</h3> <p>People diagnosed with 22q are missing a piece of DNA from the 22nd chromosome. The missing DNA includes several genes that affect how the body develops.</p> <p>Most often, 22q deletion syndrome happens because of a random gene mutation (change) in the early stages of pregnancy. But it also can be inherited (passed down from a parent to their child).</p> <h3>What Are the Signs &amp; Symptoms of 22q11.2 Deletion Syndrome?</h3> <p>The body systems affected are different in each person. Some children with 22q will have one or two symptoms, and others will have several more.</p> <p>Symptoms can include:</p> <ul> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/submucous-cleft-palate.html/">submucous cleft palate</a></li> <li>an unusual shape or position of the eyes, ears, nose, mouth, and jaw</li> <li>problems with the shape of the spine</li> <li>heart problems</li> <li>low levels of some <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/hormones.html/">hormones</a></li> <li>delays in walking and talking</li> <li>feeding problems</li> <li>hearing and speech problems</li> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/velopharyngeal-dysfunction.html/">velopharyngeal dysfunction&nbsp;</a></li> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/seizure.html/">seizures</a></li> <li>slow growth</li> <li>trouble fighting infections</li> <li>some types of mental health conditions</li> <li>learning problems</li> <li>vision problems</li> <li>dental problems</li> <li>trouble interacting with peers</li> </ul> <h3>How Is 22q11.2 Deletion Syndrome Diagnosed?</h3> <p>Doctors do tests to confirm a diagnosis of 22q. This may happen:</p> <p><strong>Before birth.</strong> If a pregnant woman has a family history of 22q or a <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/prenatal-tests.html/">prenatal test</a> shows the developing baby could have 22q, the doctor will usually do such tests as:</p> <ul> <li>an ultrasound scan of the heart (<a href="https://kidshealth.org/ws/RadyChildrens/en/parents/fetal-echocardiogram.html/">fetal echocardiogram</a>)</li> <li>magnetic resonance imaging (fetal MRI)</li> </ul> <p><strong>After a baby is born.</strong> If a new baby shows signs of 22q, the doctor will examine the baby and ask about any medical conditions that run in the family.</p> <p>The doctor may order tests, such as:</p> <ul> <li>CT (computed tomography) scans</li> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/mri.html/">MRI</a></li> <li>a heart ultrasound (<a href="https://kidshealth.org/ws/RadyChildrens/en/parents/echo.html/">echocardiogram</a>)</li> <li>a check of calcium levels and infection-fighting cells in the baby's blood</li> <li>genetic tests of the baby, siblings, and parents</li> </ul> <p><strong>Later in life.</strong> Some people with 22q are diagnosed when they are older through <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/genetics.html/">genetic testing</a>.</p> <h3>How Is 22q11.2 Deletion Syndrome Treated?</h3> <p>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.</p> <p>This team often includes doctors with special training in:</p> <ul> <li>bones (orthopedic surgery)</li> <li>ear, nose, and throat problems (otolaryngology)</li> <li>eye problems (ophthalmology)</li> <li>genetics</li> <li>growth and learning (developmental pediatrics)</li> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/hear.html/">hearing</a> (audiology)</li> <li>heart problems (cardiology)</li> <li>hormone and mineral balance (endocrinology)</li> <li>infection-fighting (immunology)</li> <li>kidney problems (nephrology, urology)</li> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/brain-nervous-system.html/">brain and nervous system</a> issues (neurology and neurosurgery)</li> <li>mental health (psychology and psychiatry)</li> <li>behavior issues (behavioral psychology)</li> <li>speech, language, and voice concerns (speech-language pathologist)</li> <li>learning difficulties and cognitive issues (neuropsychology)</li> </ul> <h3>How Can Parents Help?</h3> <p>To help if your child has 22q:</p> <p><strong>Find a team that specializes in 22q.</strong> Not every hospital has all the providers needed to assess and manage a child with 22q. You can look online to find a 22q center at:</p> <ul> <li><a href="http://www.22q.org/resources-for-22q/clinics/">International 22q11.2 Foundation, Inc.</a></li> <li><a href="https://22qfamilyfoundation.org/living-with-22q/22q-clinics">22q Family Foundation</a></li> <li><a href="https://cleftline.org/find-a-team/acpa-approved-teams-in-the-us-and-canada/">American Cleft Palate and Craniofacial Association</a></li> </ul> <p><strong>Go to medical appointments.</strong> Take your child to all scheduled checkups and any follow-up appointments with specialists.</p> <p><strong>Set up therapy care when needed.</strong> Help your child build and strengthen life skills. Set up&nbsp;<a href="https://kidshealth.org/ws/RadyChildrens/en/parents/speech-therapy.html/">speech therapy</a>&nbsp;and&nbsp;<a href="https://kidshealth.org/ws/RadyChildrens/en/parents/phys-therapy.html/">physical therapy</a>&nbsp;visits, or other care that doctors and nurses recommend. If your child has a hard time paying attention, or feels anxious or sad often, ask the doctor if <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/finding-therapist.html/">therapy</a> with a mental health provider could help.</p> <p><strong>Connect with others for support and awareness.</strong> Join a 22q support group to find other parents who share similar experiences.</p>
ADHDADHD is a common medical condition that can affect kids at school, at home, and in friendships. This article is for parents who want to learn more about ADHD and how to help kids get the best diagnosis and care.https://kidshealth.org/ws/RadyChildrens/en/parents/adhd.html/f42ae5d2-7169-4339-b118-781dbfcb5f97
All About GeneticsRead the basics about genetics, including how certain illnesses, or increased risks for certain illnesses, pass from generation to generation.https://kidshealth.org/ws/RadyChildrens/en/parents/about-genetics.html/0a35cfc5-5d12-46d2-b0a9-ffae83cace5c
Autism Spectrum DisorderAutism spectrum disorder affects a child's ability to communicate and learn. Early intervention and treatment can help kids improve skills and do their best.https://kidshealth.org/ws/RadyChildrens/en/parents/pervasive-develop-disorders.html/a7b0ca96-5b1f-412c-9da9-80bf22c8bba6
Delayed Speech or Language DevelopmentKnowing what's "normal" and what's not in speech and language development can help you figure out if you should be concerned or if your child is right on schedule.https://kidshealth.org/ws/RadyChildrens/en/parents/not-talk.html/0c41b2d1-1773-4a32-aeca-9a09589718ab
Genetic TestingAdvances in genetic testing help doctors diagnose and treat certain illnesses. The type of test done depends on which condition a doctor checks for.https://kidshealth.org/ws/RadyChildrens/en/parents/genetics.html/cbe49a95-6833-41f4-881a-c26287c4a33c
Interrupted Aortic Arch (IAA)An interrupted aortic arch (IAA) is a rare heart condition in which the aorta doesn’t form completely. Surgery must be done within the first few days of a baby’s life to close the gap in the aorta. https://kidshealth.org/ws/RadyChildrens/en/parents/aortic-arch.html/d892fcbc-6205-4d08-83cb-903e58b78f39
Submucous Cleft PalateIn a submucous cleft palate, the muscles of the palate don't form properly, but the tissue that lines the roof of the mouth does. This makes these clefts harder to see.https://kidshealth.org/ws/RadyChildrens/en/parents/submucous-cleft-palate.html/8b509965-ab8f-4641-8c59-e69f41ecc65d
Tetralogy of Fallot (TOF)Tetralogy of Fallot (TOF) is a combination of problems caused by a birth defect that changes the way blood flows through the heart.https://kidshealth.org/ws/RadyChildrens/en/parents/tetralogy-of-fallot.html/c6d7839a-671c-43c0-8640-d2bc42753eee
Truncus ArteriosusTruncus arteriosus is a heart defect that happens when a child is born with one large artery instead of two separate arteries.https://kidshealth.org/ws/RadyChildrens/en/parents/truncus-arteriosus.html/68c1aded-3ca9-4a04-bdf2-8222cafdd0e8
Ventricular Septal Defect (VSD)Ventricular septal defect (VSD) — also known as a "hole in the heart" — is a congenital heart defect. Most VSDs are diagnosed and treated successfully.https://kidshealth.org/ws/RadyChildrens/en/parents/vsd.html/21135699-6b44-43bd-96b1-618186631849
kh:age-allAgesOrAgeAgnostickh:clinicalDesignation-geneticskh:clinicalDesignation-plasticSurgerykh:genre-articlekh:primaryClinicalDesignation-plasticSurgerySurgical Conditionshttps://kidshealth.org/ws/RadyChildrens/en/parents/system/surgical/e79494d5-d5b9-41cd-99a0-13b82606c9adGenetic, Chromosomal & Metabolic Conditionshttps://kidshealth.org/ws/RadyChildrens/en/parents/medical/genetic/d50d4cf8-0cb6-4a6b-8d58-1fe7996c491e