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by Summerly Rowlands

How is 22q11.2 deletion syndrome treated?

While there is no cure for 22q, many of the health problems can be treated, especially if found early. Treatment will depend on the symptoms and age of the individual, and some aspects won’t be addressed or monitored until later on when they become a concern (*if* they become a concern). With such a wide spectrum of severity, there is a lot of unknown. It can be very frustrating and worrisome to have unanswered questions, but it is still good to have an early diagnosis in order to have a better plan.

With 22q deletion, there is also life expectancy to be aware of. Although there is a small number of diagnosed children who will not survive past their first year of life, most will be able to grow into adulthood with the necessary help.

A patient with 22q will need a variety of specialists throughout their lifetime in order for their symptoms to be treated. Below is a list of possible specialists:

  • Pediatrician – general health doctor & helps with coordination of care
  • Geneticist – expert in 22q11 & helps with coordination of care; interprets genetic testing
  • Cardiologist – may be able to fix heart defects with procedures or surgery; interprets echocardiographs (ultrasounds of the heart)
  • Plastic surgeon – diagnoses & fixes facial abnormalities & structural impairments such as cleft palate or jaw size
  • Orthopedic surgeon – treats scoliosis and other skeletal abnormalities
  • Speech therapist – can help with feeding in infancy and possible speech delays or impairments as patient grows; provides swallow study to check throat & esophagus
  • Nutritionist – helps with feeding issues and diet
  • Gastroenterologist (GI) – treats digestive tract & reflux; orders & interprets upper GI screen to detect any gastro tract abnormalities
  • Immunologist – interprets T cell quantities & qualities; treatment depends on severity; no live vaccines for any weakened immune system; with limited thymus dysfunction, infections may be frequent, but not necessarily severe, and they are generally treated as they would be in any child; with severe thymus dysfunction, treatment could require a transplant
  • Neurologist – treats seizures along with possible learning, developmental, and behavioral problems; orders & interprets EEGs and MRIs
  • Endocrinologist – uses blood tests to monitor hormone levels in parathyroid glands & treats calcium and phosphorus levels with necessary medications & supplements
  • ENT – ear, nose, and throat doctor if necessary
  • Pulmonologist – treats the respiratory system & any concerns with the lungs
  • Nephrologist – kidney specialist
  • Ophthalmologist – treats eye & vision impairments
  • Audiologist – treats hearing problems
  • Orthodontist – treats mouth & dental issues
  • Occupational therapist (OT) – can help with feeding and poor muscle tone
  • Physical therapist (PT) – can help a patient meet developmental milestones
  • Developmental Specialist
  • Social Worker – can help patient & family connect to resources for finances, insurance, food, etc.
  • Clinical therapist – treatment for social/emotional, behavioral, & mental health concerns
  • Psychologist/Psychiatrist – specialist for those diagnosed with autism or psychosis, along with other social/emotional, behavioral, & mental health concerns

    In the United States, early intervention treatment programs providing such things as OT, PT, & speech therapy are usually available through the state or county health department. For instance, Help Me Grow is a free, in-home program for children ages birth to 3 with developmental delays or disabilities.