All the members of the Cardiac Neurodevelopmental Program and the Division of Genetics here at Boston Children's Hospital are dedicated to diagnosing any complications that a child with velo-cardio-facial syndrome (VCFS) may experience, and developing the best therapeutic plans to manage them.
How is VCFS treated?
Treatment focuses on the health problems related to the syndrome. For this reason, the first step in the treatment process is a careful screening evaluation to check for underlying medical problems.
In addition to experts in the Division of Genetics and the Cardiac Neurodevelopmental Program, children with VCFS will be assessed by the following specialists:
- Plastic surgeons, whomay perform an assessment of cleft lip and/or palate defects.
- Neurologists, who evaluate neurobehavioral functioning and identify problems such as small head (microcephaly)
How are the medical complications of VCFS treated?
Common problems that may require treatment include:
- Heart defects: Surgery will be used to correct common cardiac conditions in children with VCFS, such as ventricular septal defects and tetralogy of fallot
- Cleft lip/palate: Experts in Oral and Maxillofacial Surgery at Boston Children's will perform surgery on children with VCFS to repair the opening in their lip and/or palate
- Feeding difficulties: Some children with the syndrome have severe feeding difficulties and need tube feedings in order to get adequate nutrition. Feeding difficulties are not usually related to heart or palate problems, but rather to intestinal problems caused by the syndrome.
- Low calcium: Low levels of calcium arecommon in children with VCFS, especially right after birth. But it can also recur during stressful periods, such as during puberty or following surgery. A child may need to take calcium supplements as well as vitamin D to help absorb the calcium. A referral to an endocrinologist (doctor who specializes in treating conditions affecting the endocrine system) may be recommended.
- Developmental difficulties: Young children with VCFS syndrome may be slow to achieve developmental milestones, such as sitting, walking and talking. To address these issues, it's recommended that parents access early intervention services as soon as possible. Children with VCFS typically benefit from developmental supports that include physical therapy, occupational therapy, and speech therapy.
How is VCFS managed as the child grows?
If your child has VCFS, she'll need regular check-ups with her cardiologist throughout her life to monitor her heart. Your doctor's recommendations for managing VCFS may include:
- An annual cardiac ultrasound (echocardiogram) to monitor the heart and aorta
- Monitoring of the skeletal system for abnormalities
- Lifestyle adjustments to reduce the risk of injury to the aorta
- Ongoing psychological counseling
- Genetic counseling for children who reach adulthood and plan to have a family. If one parent has VCFS, there's a 50 percent chance for each child to also have the syndrome.
What is the long-term outlook for children with VCFS?
With the proper treatment of heart defects, immune system disorders and other health problems, the majority of children with VCFS survive and grow into adulthood. However, children with VCFS generally need extra help throughout school and long-term care for their individual health needs.
Children with VCFS are at higher risk than usual for developing complex learning and behavioral problems. Nonverbal learning disabilities, speech production problems, and behavior and mood regulation difficulties are frequently seen. Attention and executive functioning difficulties are typically seen in children with VCFS. They maybe at higher risk for having behaviors associated with autism spectrum disorders. There is evidence that later in life children with VCFS have higher rates of severe mental health disorders including obsessive compulsive disorder, bipolar disorder, or schizophrenia. The occurrence of psychiatric disorders is higher for adults with VCFS, but medical researchers are still investigating the exact nature and risk of these disorders.