Common Medical Conditions

Palate differences are a common feature of 22q deletion syndrome, affecting approximately two thirds of individuals with the condition. Typically, the presentation can be velopharyngeal dysfunction (VPD), or hyper nasal speech. A subset can also have cleft palate, which is a birth defect in which the roof of the mouth doesn't close completely during fetal development, resulting in an opening between the nasal cavity and mouth.

The incidence of cleft palate in individuals with 22qDS is higher compared to the general population. However, having 22qDS does not necessarily mean that a person will have a cleft palate, and not all individuals with cleft palate have 22qDS.

Palate differences can cause difficulties with feeding and speech, and there are several medical and surgical interventions that can help to address these issues. Treatment typically involves a multidisciplinary approach, with specialists from different fields such as pediatrics, speech therapy, and plastic surgery working together to improve outcomes.

Congenital heart defects are found in approximately 70% of individuals with 22q deletion syndrome. These differences in the structure of the heart can be mild or severe. The most frequent defects are known as conotruncal defects and include: interrupted aortic arch, tetralogy of fallot, and truncus arteriosus. Many individuals require multiple surgeries or other interventions to repair their congenital heart disease..

In addition to congenital heart defects, individuals with 22qDS are more likely to develop other cardiovascular problems throughout their life, including high blood pressure, aortic dilation, aortic dissection, and other complications related to the cardiovascular system. It is important for individuals with this syndrome to receive regular Cardiology follow-up throughout their lifetime.

Speech and language development is delayed in almost all children with 22q11.2 deletion syndrome. Many children will also have nasal sounding speech (hypernasality) which may be due to a condition called Velopharyngeal Insufficiency (VPI), which causes air and sound to leak through the nose during speech. Almost all children with 22qDS will also have articulation difficulties (speech sound disorders).

VPI causes hypernasal speech and is often associated with articulation disorders.

Remediation of VPI often requires surgical management. Articulation disorders require speech therapy.

Articulation disorders in children with 22qDS tend to be severe and complex. Some children will present with atypical types of articulation errors, known as compensatory misarticulations, which are often associated with VPI. A minority of children with 22qDS will present with motor speech disorders, including apraxia of speech and/or dysarthria. Specialized speech therapy approaches may be required to treat speech sound disorders in children with 22qDS.

Slow vocabulary growth and difficulty formulating sentences is also common.

Children with 22q deletion syndrome can have developmental delays, which are often related to delays in speech, fine motor skills, and cognitive functioning. Common difficulties may also include learning disabilities, problems expressing complex ideas, and memory lapses, as well as difficulty retaining new information. Individuals with 22qDS may also experience psychiatric conditions like anxiety, depression, obsessive–compulsive disorder (OCD), and schizophrenia.

Developmental delays can occur as well, which are often related to delays in speech, fine motor skills, and cognitive functioning. These delays can cause significant challenges, including declining performance in academic activities and difficulties in social interactions with their peers. Treatment for these issues may include various types of therapy tailored to the individual's specific needs.

Another general category of neurological issues that are seen with 22qDS are cognitive impairments. Common difficulties may include learning disabilities, problems expressing complex ideas, and memory lapses, as well as difficulty retaining new information. Some children can respond positively to special programs designed to address their needs. Establishing a healthy academic and social environment that also provides emotional, sensory, and intellectual support services is essential for long-term success.

Individuals may also experience psychiatric conditions like anxiety, depression, obsessive–compulsive disorder (OCD), and schizophrenia. These conditions may require significant therapeutic intervention depending on the severity of expression. Obtaining routine mental health services can assist in developing strong social and emotional bonds between the diagnosed individual and their care team as well as allow early intervention and treatment

Lastly, seizures may occur in those with 22qDS. These can range in severity and require an evaluation by a team of specialists to perform the appropriate assessments needed to diagnose them, including blood testing, brain MRI scans, and electroencephalograms (EEGs). Once a diagnosis has been established, prescribed treatment can range from antiepileptic medication regimens, dietary interventions, and other forms of complementary and alternative therapies.

Neurological manifestations of 22qDS vary widely, and treatment also varies depending on the severity of these conditions. A team of subspecialists will tailor this care to ensure that children with this condition receive the proper interventions and resources, thereby enabling them to lead fulfilling and healthy lives.

Delayed growth is a common issue that occurs in some children with 22q deletion syndrome... This can mean that they experience a delay in overall physical growth, which can impact their height and weight. This can lead to difficulties with physical activities, limitations on athletic abilities, and even self-esteem issues related to being smaller than their peers.

In addition to delayed growth, some individuals with 22qDS may also experience dental problems. This can include delayed tooth eruption, issues with enamel development, or even tooth loss. Proper dental care is essential to minimize these issues, and in some cases, orthodontic treatment can be helpful to realign teeth that may be impacted by these growth issues.

Hormonal imbalances, including growth hormone insufficiency, can also occur in individuals with 22qDS, which can impact overall growth and development. This can lead to delayed puberty, which can impact bone growth and overall growth potential. In some cases, hormone replacement therapy or other medications may be used to help address these hormonal imbalances and promote healthy growth.

Overall, the treatment for growth-related issues with 22qDS is highly individualized and can vary greatly depending on the specific symptoms and needs of the individual. Working closely with healthcare professionals, including endocrinologists, pediatricians, and other specialists, can help to ensure the best possible outcome for children and adults with this condition.

Based on research studies in the past, there is evidence that 20-50% of children with 22qDS fall below the 2nd percentile for normal population for all growth parameters. Researchers have created these growth charts for weight, length, and head circumference for a multitude of reasons. By referencing these charts which show norms of growth for 22qDS, it allows clinicians to identify and investigate those children who deviate substantially from the growth profile of this condition. These charts also give peace of mind to parents so they can compare their child to those with the same medical diagnosis.

Boys Growth Charts

• Boy’s BMI Birth to 20 years old
• Boy’s Head Circumference Birth to 5 years old
• Boy’s Head Circumference Birth to 20 years old
• Boy’s Height Birth to 5 years old
• Boy’s Height Birth to 20 years old
• Boy’s Weight Birth to 20 years old

Girl’s Growth Charts

• Girl’s BMI Birth to 20 years old
• Girl’s Head Circumference Birth to 5 years old
• Girl’s Head Circumference Birth to 20 years old
• Girl’s Height Birth to 5 years old
• Girl’s Height Birth to 20 years old
• Girl’s Weight Birth to 5 years old
• Girl’s Weight Birth to 20 years old

Additional Resources

• Growth Charts for 22q11 Deletion Syndrome
• Growth Charts for 22q11 Deletion Syndrome
• Syndrome-Specific Growth Charts for 22q11.2 Deletion Syndrome in Caucasian Children
• Growth Hormone Deficiency in Patients With a 22q11.2 Deletion: Expanding the Phenotype

22q deletion syndrome can affect the immune system in a number of ways, leaving individuals with the condition more susceptible to infections and autoimmune disorders.

The immune system is responsible for defending the body against infectious organisms and other invaders, as well as identifying and attacking any malfunctioning or abnormal cells. Poor immune function can present as recurrent infections, mainly ear and sinus infections, bronchitis, and pneumonia.

It is important for individuals with 22qDS to receive routine medical checkups and to follow recommended vaccination schedules. When diagnosed early, immune studies are being done to make sure that babies can safely receive live vaccines around their first birthday. Patients may require additional medical interventions and to be monitored closely by healthcare professionals to manage any infections or autoimmune disorders that may arise. Treatment may include immunoglobulin replacement therapy when not producing enough antibodies immunosuppressive medications for autoimmune diseases, or other targeted treatments depending on the specific immune system abnormalities and the individual's symptoms.

Current recommendations for the immunological management of 22q patients can be found in the updated clinical practice guidelines published in 2023 (1).

Reference:

1. Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol. 2023 Jan 17. doi: 10.1007/s10875-022-01418-y. Epub ahead of print. PMID: 36648576.

• Updated Guidelines for Managing Children with 22q 2023 
• Updated Guidelines for Managing Adults with 22q 2023

Renal (or kidney) issues are also a possible complication of 22q deletion syndrome and a relatively less known but important area of concern. Some children with 22qDS can have structural abnormalities of the kidneys that can cause a range of problems. One complication includes the obstruction of the flow of urine. This can result in vesicoureteral reflux (VUR) where the urine backs up into the kidneys and damages the nephrons which are important components of the kidneys filtration system.

In other cases, some individuals with 22qDS may develop cystic kidney diseases or other forms of kidney diseases that affect the function of the kidneys to remove excess fluids and metabolic waste from the bloodstream effectively.

In either scenario, kidney problems may or may not have symptoms in the early stages. Earlier detection can improve long-term treatment planning and reduce the risk of progressive kidney damage.

Routine kidney screening and medical management can improve outcomes for individuals with 22qDS. In severe cases, surgery may be necessary to address the issues and reduce the risk of long-term kidney damage.

Feeding difficulties are a common feature of 22q deletion syndrome, particularly in infants and young children. The specific feeding difficulties experienced can vary widely, depending on individual factors such as the severity of the 22q deletion, the presence of co-occurring physical and developmental conditions, and other personal and environmental factors.

Some common feeding difficulties experienced by infants and children with 22qDS include:

• Difficulty sucking and swallowing: Some individuals with 22q deletion syndrome may have trouble coordinating the muscles necessary for efficient sucking and swallowing. This can make breastfeeding and bottle-feeding difficult.
• Reflux: Gastroesophageal reflux, or the backward flow of stomach contents into the esophagus, is common in individuals with 22qDS. This can cause discomfort during feeding and may interfere with nutrient absorption.
• Poor growth: Feeding difficulties and their consequences can sometimes lead to poor growth and inadequate weight gain.

Management of feeding difficulties in individuals with 22qDStypically involves a multidisciplinary approach, with specialists including feeding and speech therapists, gastroenterologists and dietitians working together to develop an individual care plan. Strategies may involve adjustments to feeding positions or methods, such as using specialized bottles or nipples, thickening formula with rice cereal, or changing the timing or frequency of feedings. For more severe cases, surgical interventions may be necessary.

Many individuals with 22q deletion syndrome will require follow-up with an ENT(Ear, Nose, and Throat doctor, also called an otolaryngologist). Here are some common ENT-related concerns and recommendations for follow-up care for patients with 22qDS:

• Ear Infections: Infections are common due to the high incidence of palatal differences.
• Hearing Loss: Many individuals can experience hearing problems, such as recurrent ear infections, conductive hearing loss, or structural abnormalities in the ear. Regular hearing assessments are essential to monitor and address these issues.
• Cleft Palate: Cleft palate is a common feature of 22qDS. Individuals may need to be evaluated for speech and swallowing.
• Airway Issues: Sometimes airway abnormalities can occur with this diagnosis, which can lead to breathing difficulties.

Mental Health and 22q11.2 Deletion Syndrome

Mental health conditions are more common in children and adults with 22q11.2 deletion syndrome. These can feel overwhelming for individuals and their families, but it’s important to remember that psychiatric illnesses are treatable, and with the right care, many people benefit from the right support and care.

Common Mental Health Concerns

People with 22q11.2 deletion syndrome are at a higher risk for:

• Anxiety disorders

• Mood disorders (such as depression or bipolar disorder)

• Attention deficit hyperactivity disorder (ADHD)

• Schizophrenia and other psychotic disorders

Why the Risk is Higher

The deletion of certain genes in the 22q11.2 region increases susceptibility to psychiatric disorders. For example, the COMT gene, which helps regulate dopamine, is located in this region. Changes in dopamine regulation are linked to several psychiatric conditions.

Signs to Watch For

Early signs of mental health challenges may include:

• Changes in thinking or emotions

• Disrupted sleep patterns

• Shifts in behavior

• Difficulty functioning at school, work, or in relationships

The Importance of Early Intervention

Mental health conditions may appear in childhood but often develop during the teen or adult years. Early diagnosis and treatment can greatly improve quality of life. Care may include therapy, counseling, medication, or a combination of supports tailored to the individual.

Support for Families

Families play an essential role in providing encouragement, accessing care, and building support networks. Resources and support groups specific to 22q11.2 deletion syndrome can be invaluable for both individuals and their loved ones.

Key Takeaway

Not everyone with 22q11.2 deletion syndrome will develop a psychiatric condition. However, being proactive with medical and mental health care can make a significant difference in long-term well-being. Working closely with healthcare and mental health professionals ensures that individuals and families receive the support they need.

• Mental Health in Childhood; Challenges for Children with Chromosome 22q11.2 Deletion Syndrome
• Long-Term effects of early treatment with SSRI’s on cognition and brain development in individuals with 22q11.2 Deletion Syndrome