During a keynote speech at the 3 rd international conference on 22q11 in Barcelone, Sixto García-Miñaúr spoke about the different physical issues that are caused by 22q11DS and how pediatrists should help deal with them.
Multisystematic nature of disorder
The 22q11 deletion syndrome can have an impact on many parts of the body. Possible effects include:
Congenital heart defect, feeding difficulties, poor weight gain, Slow development, hypotonic, delayed speech, recurrent respiratory and middle ear, growth at lower end of normal range, nasal speech (VPI), poor social skills, learning difficulties and a need for glasses.
The needs of 22q11 patients vary with age, as we can see in the following illustration (Habel et al. Eur J Pediatr 2014)
There are guidelines to build individual management plans
Guidelines for individual management plans suggest that the plan should at least include a full medical and neurocognitive assessment, early detection of signs and symptoms of psychiatric illness, counselling about contraception, internet safety, substance abuse.
To read the full presentation, click here.