Although there is no cure for the 22q11.2 deletion, many therapies and medical interventions are available to help address its associated symptoms. The earlier these symptoms are detected, the more doctors can do to help. If a loved one is diagnosed with this condition, medical evaluation is recommended.
22q Signs and Symptoms
Congenital Heart Defects are present in about 74% of affected individuals. Specifically they most often include: Tetralogy of Fallot (TOF), Interrupted Aortic Arch (IAA), Ventricular Septal Defects (VSD), Truncus Arteriosus (TA), a vascular ring, and other aortic arch differences. Most congenital heart differences are now treated surgically. (Consult a Cardiologist.)
Even if the child does not have a known cardiac defect, an evaluation with a cardiologist is important (although the likelihood of finding a previously unrecognized problem is low). An evaluation may include a chest x-ray, electrocardiogram (study of the electrical impulses of the heart), and an echocardiogram (ultrasound of the heart).
Due to advancement in surgical techniques, more people with cardiac problems are able to live to adulthood and have their own children. This may result in an increase in the proportion of familial cases of 22qDS.
Immune System Deficiencies/Immunology
Immune system problems occur in about 75% of children with the 22q11.2 deletion due to problems in a gland called the thymus, located near the heart. The thymus gland helps to fight infection. However, most people with the deletion do well despite their immune differences.
Children with problems with their immune systems may have trouble with infections or trouble handling certain vaccines. Most children outgrow this problem by their first birthday, but some patients continue to have some trouble into later childhood and adulthood. We suggest that every patient be evaluated by an Immunologist at least once.
Cleft Palate/Palate Differences/Craniofacial/Plastic Surgeon
Palatal Differences (affecting the roof of the mouth) occur in about 70% of children with the 22q11.2 deletion. Only 10% will have a hole in the roof of the mouth (cleft palate), and 1% may also have a cleft lip. However, the most common problem with the palate, which occurs during speech and feeding, is a difference called velopharyngeal incompetence (VPI). VPI affects the way the palate divides the mouth from the nose. This is more difficult to diagnose than a cleft, as it may only show itself when there is vomiting through the nose or speech that sounds “hypernasal” (like the sound is escaping through the nose). This is usually treatable. A Pediatric Plastic Surgeon or an Ear Nose Throat doctor (ENT) should be consulted.
Children with the 22q11.2 deletion should be seen by a plastic surgeon who specializes in cleft palate and VPI (velopharyngeal incompetence). In addition, they should be seen by a speech and language pathologist who can also assess speech, language, and feeding (in a young child). Some centers have specialized computer methods of objectively measuring speech to decide if intervention is necessary. Some teams also have growth specialists and dentists who monitor the growth of the face, jaw, and teeth.
Hypocalcemia (or low calcium) is common, especially in the newborn period, but it can occur anytime, including during growth spurts, puberty, during an illness, or around the time of an operation. It can be treated and may require a calcium supplement. If the problem continues, an endocrinologist (hormone doctor) may be asked to see the patient. In addition, some older patients with the 22q11.2 deletion have problems with growth (short stature) and would benefit from an evaluation by an endocrinologist since, in some cases, this is treatable.
Ear, Nose and Throat/Audiology
Children with a palatal problem often have trouble with ear infections and can benefit from seeing an ear, nose, and throat doctor (ENT). Since some patients with a 22q11.2 deletion have hearing loss, a hearing test (audiogram) would often be beneficial. In addition, some children have problems with “noisy” breathing. These children in particular benefit from an evaluation by an ENT. This is often part of the cleft palate team evaluation.
Speech-language pathologists (SLPs) may work with children with 22q at different stages of their lives. It is important for SLPs to become familiar with the many speech-language disorders in these patients, as early diagnosis and management will lead to the best possible outcome.
This document first provides an overview of the aspects of 22q that may affect speech and language development. The authors then go into details of the possible features in the categories of language, speech sound disorders, and velopharyngeal dysfunction (VPD), before discussing surgeries for VPD. The five appendices provide best practices for individuals with 22q through their different stages of life. The authors recommend that SLP apply management strategies based on each patient’s unique health and personal situation.
Note: Knowledge in speech-language disorders will be helpful in the understanding of the materials described in this document.
Feeding and Gastrointestinal Issues
Patients with a 22q11.2 deletion often have feeding difficulties, usually in the newborn period. These difficulties may be helped by having an evaluation with a pediatrician who specializes in feeding. This would only be recommended if a problem already existed.
Some patients with the 22q11.2 deletion have problems with their kidneys, including a missing kidney, which would be detected by a renal ultrasound. In addition, some children have difficulty with urinary tract infections, bedwetting or urinary frequency, and would benefit from seeing a urologist who is a specialist in this area.
Child Development, Learning and Behavioral Issues
In general, young children with the 22q11.2 deletion syndrome have delays in sitting and walking. They generally walk at about 18 months of age. They have delays in babbling, saying their first words, and speaking in sentences. In fact, there are many children with the deletion who are still not speaking at two and three years of age.
Children with a 22q11.2 deletion may have different learning styles and require some extra help in school. In addition, young children may have delays in their developmental milestones and might benefit from early intervention, such as physical, occupational, and speech therapy. It is important for patients with the deletion to have developmental testing on a regular basis to determine if there is a problem, and to identify appropriate intervention when needed.
About 20% of children with the 22q11.2 deletion have an autism spectrum disorder which affects the way they interact, develop, and communicate. In addition, some children may have behavioral differences such as ADHD (attention deficit hyperactivity disorder), OCD (obsessive-compulsive disorder), and anxiety.
Mental health issues, including anxiety and other psychiatric illnesses, are common in children and adults with 22q11.2 deletion syndrome. These may begin in childhood, but more often during teen or adult years. Often these diagnoses can be overwhelming for individuals and for their families or caregivers. It is important to remember that psychiatric illnesses are treatable conditions. Changes in thinking, emotions, sleep patterns, and behavior may be early signs. Changes in functioning, e.g., socially with friends and family, and at school, home or at work may indicate the need for medical attention. Early diagnosis and effective management are important for everyone. Click Here for more information on Mental and Behavioral Health resources.
Rarely, children with a 22q11.2 deletion have symptoms such as seizure disorder or problems with balance which require the services of a neurologist. We suggest that an initial evaluation with a neurologist may be helpful in some cases.
The geneticist is the most likely person to have an overview of the diagnosis. These would include keeping up to date with the new findings associated with the 22q11.2 deletion. Therefore, a yearly evaluation with genetics is often beneficial in answering questions regarding the patient’s general care, recurrence risk, and the availability of prenatal diagnosis.
Other Symptoms of 22q11.2 Deletion:
- Leg pain
- Differences in the blood vessels in the neck that lead to the brain (carotid arteries)
- Bone differences, such as extra fingers, extra ribs, a missing forearm bone and spine problems including abnormal neck bones and abnormalities that sometimes lead to spine curvature (scoliosis)
- Spina Bifida
- Juvenile rheumatoid arthritis or other autoimmune disorders
- Eye and vision problems
- Craniosynostosis (premature closure of the fontanels or “soft spots” of the skull)
- Intestinal malrotation
- Diaphragmatic hernia
- Hirschsprung’s disease
- Tracheoesophageal fistula
- Laryngeal web
- Imperforate anus
- Absent uterus
- Emotional or psychological problems
If a child has these symptoms in any of these areas, he or she should be referred to a specialist.