DiGeorge syndrome is the immunodeficiency disease also known as 22q11.2 deletion syndrome that occurs during fetal development. It is caused by abnormal migration as well as the development of certain cells and tissues. So, the rare genetic disorder can trigger frequent infections and other health problems in children. The chromosomal disorder results in the abnormal or poor development of different systems in the body. But, the features can vary widely even in members of the same family. The problems mostly trigger the poor immune system, heart problems, a cleft palate, and reduced levels of calcium in the blood. The genetic disorder has no permanent cure. But, it is possible to address the critical health problems for a better quality of life. Read ahead to know the details about the syndrome and how to manage it effectively.
What Do You Mean By DiGeorge Syndrome?
DiGeorge Syndrome also referred to as 22q11.2 deletion syndrome occurs when a part of the chromosome 22 goes missing. So, the deletion of thirty to forty genes in the middle of chromosome 22 can trigger the condition. As it occurs in the location known as 22q11.2, the problem has the name 22q11.2 deletion syndrome. In the majority of the cases (90%), the problem occurs due to a mutation entirely new in the early development of the fetus. In the rest of the 10% cases, children inherit from one of their parents. The autosomal dominant disorder occurs with one affected chromosome. It can affect several bodily functions. But, the severity and number of symptoms depend entirely on the affected person. Children with the syndrome need specialized treatment from a team of doctors to manage the condition. With proper diagnosis and treatment, you can provide a good quality of life to the affected child.
Symptoms Associated With DiGeorge Syndrome
The signs and symptoms associated with 22q11.2 syndrome can vary from one person to another. The severity and type of problems can also differ depending upon the body systems affected. So, no two affected people have the same signs or complications. For some people, the signs may appear right at birth. For others, the symptoms may start to appear only in late infancy or early childhood. Therefore, monitor your child to look for the signs mentioned below:
Heart Problems
Children suffering from the issue can suffer from the following heart problems:
- Poor circulation of oxygen-rich blood leading to bluish skin tone
- Heart murmur
Physical Problems
Children can suffer from the following issues with their health:
- Poor muscle tone
- Frequent infections
- Delayed growth
- Feeding problems
- Gastrointestinal problems
- Failure to gain weight
- Breathing problems
- Delayed growth
Behavior Problems
Children with the syndrome can suffer from behavior problems like:
- Hyperactivity
- Autism
Facial Abnormalities
In most cases, the issue is detected due to the abnormal facial features like:
- Low-set ears
- Underdeveloped chin
- Wide-set eyes
- A narrow groove in the upper lip
- Cleft palate (a gap in the roof of the child’s mouth)
- Other issues with the palate
Developmental Delays
Children can exhibit developmental delays. So, they can fail to reach the developmental milestone at the right time. The issues include:
- Delays in rolling over or sitting up
- Long time to reach other infant milestones
- Nasal-sounding speech
- Speech development delay
- Learning disability or problems
When you see such issues, you need to contact your doctor immediately. In most cases, the doctor evaluates the symptoms. It is to eliminate the presence of other issues with symptoms similar to 22q11.2 deletion syndrome. You have to contact the doctor for a proper diagnosis to get the treatment as early as possible. Early intervention can help manage the issues associated with the syndrome better. In most cases, your doctor suspects the issue during the following scenarios:
At Birth
The presence of facial abnormalities listed below can indicate the presence of DiGeorge syndrome. So, the doctors can suggest diagnostic tests before the child leaves the hospital.
Baby Visits
Your pediatrician can suspect the disorder when a combination of symptoms suggested above appears. The illness or infection appearing over time can invoke suspicion in the minds of your doctor. In other cases, the problem can come to the attention of the doctor during the annual checkup or scheduled baby visits for the child.
Causes Of DiGeorge Syndrome
The genetic problem occurs due to the deletion of genes from chromosome 22. It can occur as a random event in either the mother’s egg or father’s sperm. It can occur during early fetal development. In the minority of the cases, you can see the disease inherited from an affected parent. So, a child can inherit the syndrome when the father or mother suffers from chromosome 22 deletion. Such parents may or may not have signs indicating 22q11.2 deletion syndrome.
In normal cases, a person has two copies of chromosome 22 in their body. One inherited from each parent. So, a person who suffers from DiGeorge syndrome can have one copy of chromosome 22 segment missing. It leads to missing 30 to 40 genes. It is still unclear the exact genes affected by the syndrome. But, the two important genes missing due to the problem are:
TBX1
The gene is the part of the T-box gene family. The gene plays an important role in tissue as well as organ formation when the embryo develops. It also plays a significant role in the regulation of cellular differentiation of post-migration neural crest cells. The neural crest cells are responsible for the skull, facial, palate structure development. Therefore, the missing of the genes can lead to abnormal facial structure.
DGCR8
The absence of DGCR8 can trigger a problem like Parkinson’s disease.
Complications Triggered Due To DiGeorge Syndrome
The portions of chromosome 22 deleted due to the syndrome play a significant role in the development of several body systems. So, the problem can trigger several errors during fetal development. It results in the child having severe issues. The major complications associated with the syndrome are:
Heart Problems
The syndrome can trigger heart defects, which can lead to getting an insufficient amount of oxygen-rich blood to all organs. So, the defects include:
- Having a single large vessel instead of two that leads out of the heart (truncus arteriosus)
- A hole between the lower chambers of the heart also known as ventricular septal defect
- Having a combination of four abnormal heart structures (also known as tetralogy of Fallot)
Hypoparathyroidism
In a normal person, four parathyroid glands situated in the neck regulates the phosphorus and calcium levels in the body. 22q11.2 deletion syndrome can result in having smaller parathyroid glands. So, it results in reduced secretion of PTH (parathyroid hormone). It can lead to the condition known as hypoparathyroidism. The condition can increase the phosphorous levels while the calcium levels decrease in the blood.
Thymus Gland Dysfunction
Every infant has a thymus gland, which produces T cells. It can help children fight off infections until they mature in age. The thymus gland situated beneath the breastbone is essential for every child to get protection from infections. Children affected by DiGeorge syndrome can miss or have a small thymus gland. Therefore, it results in the children having a poor immune function. It can lead to the affected children suffering from frequent as well as severe infections.
Cleft Palate
22q11.2 deletion syndrome can trigger a palate problem. Cleft palate is a common condition associated with the issue. It causes an opening to form in the roof of your mouth. An affected person can also see other palate abnormalities. So, it can lead to trouble swallowing the food properly. The issue can also result in speech problems, including the inability to produce certain sounds.
Distinct Facial Features
DiGeorge syndrome can result in having particular facial features. So, children suffering from the problem can have the following:
- Low-set ears
- Small ears
- Palpebral fissures (short width eye openings)
- Enlarged nose tip (bulbous)
- Hooded eyes
- A long face
- A flattened groove in the upper lip
Autoimmune Disorders
The lack of or reduced functioning of the thymus can lead to having poor immune functioning. Some children have small or missing thymus gland, which triggers the problem. So, it can put the children at risk of getting autoimmune disorders like Graves’ disease or rheumatoid arthritis.
Learning Delays
The syndrome can trigger problems with brain development and function. So, it can cause social, behavioral, or developmental problems. Children can face delays in reaching milestones like rolling, crawling, speech development, etc.
Behavioral Problems
Children affected by the syndrome are more prone to behavioral issues like autism spectrum disorder or ADHD.
Mental Health Problems
Children suffering from 22q11.2 deletion syndrome can suffer from mental health issues as their age progresses. So, they are more at risk of experiencing issues like:
- Schizophrenia
- Anxiety disorders
- Depression
- Other mental health issues
Other Medical Conditions
Children affected by the syndrome can experience various other health problems. So, the following conditions can affect the person:
- Poor vision
- Hearing impairment
- Poor kidney function
- Breathing problems
- Short Stature
Diagnosing DiGeorge Syndrome
DiGeorge syndrome is a rare problem that affects one in four thousand people around the world. It can cause 22q11 microdeletion. So, in most cases, the diagnosis focuses on testing it in the lab to check for microdeletion. In others with no 22q11 microdeletion, the diagnosis is possible on the basis of clinical feature assessment and exclusion of other syndromes. So, your doctor can order the following test to detect the issue conclusively:
Physical Assessment
In most cases, the doctor suspects the problem in a child due to the facial feature abnormalities. The abnormal facial characteristics and indicate the presence of the syndrome. So, your doctor orders other tests to confirm the diagnosis.
FISH Blood Tests
Fluorescent In Situ Hybridization is the most common test opted for precise diagnosis of the syndrome. In 90% of the patients suffering from the issue, microdeletion occurs. It causes deletion of the specific portion of the chromosome 22. So, the absence of 22q11.2 is easy to detect using the FISH test.
Detecting Heart Defects
Children with 22q11.2 deletion syndrome can have heart defects. The doctor usually finds about heart murmur during a routine physical examination. In some cases, the child can suffer from low oxygen content in the arterial blood. Other can suffer from heart failure. So, the following tests can detect heart problems:
- Imaging tests like x-ray, CT scan or MRI
- ECG
- Pulse oximetry
Blood Calcium Levels
The low blood calcium levels indicate hypoparathyroidism. Children affected by 22q11.2 deletion syndrome can have high phosphorous and low calcium levels in their blood. So, a blood test can detect the problem.
Some cases can confuse the doctors as the lab test may not point towards the problem, but physical assessment and combination of conditions indicate the presence of the problem. The cases can pose a diagnostic challenge to the doctors. But, your doctor can coordinate the care to address all the problems arising due to the underlying health issue. So, it manages the medical, behavioral, and developmental issues.
Treatment For DiGeorge Syndrome
No cure is available to date to overcome the problems caused due to 22q11.2 deletion syndrome. Once the problem is diagnosed, the doctors offer a treatment plan to overcome specific conditions. So, the treatment and care focus on overcoming the problems occurring due to the syndrome. As your child grows, the needs may also change. Therefore, constant monitoring is required to deal with physical health, mental health, and developmental issues. Your doctor suggests having a team of doctors to deal with each problem. The team of specialists can diagnose specific conditions and offer solutions to manage them. So, the treatment involves the interventions for the following problems:
Hypoparathyroidism
The problem causes reduced secretion of PTH (parathyroid hormone). So, it can lead to the affected person having high levels of phosphorous and low levels of calcium (hypocalcemia) in the blood. The doctor manages the condition by prescribing calcium and vitamin D supplements.
Heart Defects
A child with DiGeorge syndrome can have severe heart defects that need surgery soon after birth. Therefore, a surgeon can perform the surgery to repair the heart problems and supply oxygen-rich blood to all parts of the body.
Thymus Gland Problems
A thymus gland is located behind a person’s sternum and between the lungs. In normal cases, the gland remains active only till a person reaches puberty. After you reach puberty, the gland shrinks slowly and fat replaces the gland. Till puberty, thymus gland produces a hormone known as thymosin. The hormone stimulates disease-fighting T cells that protect the body from infection. Children affected by 22q11.2 deletion syndrome can suffer from either of the two conditions suggested below:
Limited Thymus Gland Function
Some children can suffer from limited thymic gland function. So, it results in recurrent infections. The mild infection like cold or ear infection can affect the children frequently. The doctor can treat the condition just like common conditions. It is essential for such children to follow a normal schedule of vaccines to keep them protected. Moderate thymus impairment can improve with age. So, the immune system function can perform better with increasing age.
Severe Thymus Gland Dysfunction
The severe impairment of thymus gland or the absence of the gland can put a child at risk of severe infections. Therefore, the treatment focuses on providing protection to the child. Transplanting thymus tissue from specialized disease-fighting cells or special cells from bone marrow can provide protection to the child from infections.
Cleft Palate
The cleft palate causes a split or opening in the roof of the child’s mouth. It occurs when tissues fail to fuse together during development in the mother’s womb. So, the doctor handles the problem and other abnormalities associated with it with invasive surgery. It helps overcome the abnormalities of lip and palate.
Managing Overall Development
The child with 22q11.2 deletion syndrome can experience developmental delays and speech issues. Therefore, it is essential to detect problems early and get suitable treatment. Many countries offer early intervention programs for children affected by the syndrome. So, it helps with the overall development. The range of therapies offered for children include:
- Developmental therapy
- Occupational therapy
- Speech therapy
Mental Health Care Management
Children affected by the syndrome can suffer from mental health problem as they advance in age. Most people affected by the issue can suffer from behavioral problems, psychiatric issues, and other mental issues. So, children need treatment to manage the following conditions:
- Autism spectrum disorder
- ADHD (Attention Deficit Hyperactivity Disorder)
- Depression
- Schizophrenia
Managing Other Problems
You need to get assistance from a doctor to address the other problem affecting children with 22q11.2 deletion syndrome like:
- Hearing problems
- Feeding issues
- Vision problems
- Growth complications
Coping And Support To Deal With DiGeorge Syndrome
Having a child with 22q11.2 deletion syndrome can cause disruption in your life. You need to manage the mentally and emotionally challenging situation. As parents, you may have to deal with numerous treatment problems. You also have to meet the needs of your child and manage your own expectations. Therefore, you need to understand more about the problem and how it can affect your life. You can get information from the following methods:
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- Support groups
- Browse the internet about the disease
- Meet with people from organizations dealing with the syndrome
- Educational materials and other resources
You can ask your doctor about getting proper information about 22q11.2 deletion syndrome. It will help you deal with the physical and mental stress triggered by the problem. So, you can handle the care of the affected child properly without experiencing severe emotional turmoil.
Preventing DiGeorge Syndrome
In the majority of the cases, the syndrome is passed to the child from one of the affected parents. Therefore, you need to undergo genetic testing to detect the risk probability of having a child with the syndrome. It is specifically necessary for a couple who already have a child with DiGeorge syndrome or have a family history of the problem. You have to consult a geneticist, a doctor specializing in genetic disorder to know your risks. It will help you plan your future pregnancies. So, you need to get assistance from a genetic counselor to avoid any complications in the future.
Conclusion
The outlook and prognosis of DiGeorge syndrome depend on the function of the affected part of the body and early management. By diagnosing the problem as early as possible, it is possible to manage the symptoms better. It will improve the quality of life of the affected person. You need to consult a team of doctors for a multidisciplinary approach. Therefore, it will help get the ideal treatment for the affected children as they grow older. It will help meet the medical demands needed at a particular time. With the best medical care available today, you can ensure a good quality of life for the child affected by the syndrome.
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