Lower extremity features of Velocardiofacial syndrome and other 22q11 deletions

This study investigated the symptom of recurrent leg pain of unknown aetiology (PUA) in children and adolescents with 22q11 deletion. A leg pain questionnaire was designed and administered to 300 patients with 22q11 deletion and to 4507 school children. Replies were received from 119 patients (Return rate 39.6%) and from 1391 school children (Return rate 30.8%). A standard battery of clinical tests was applied to 108 patients with 22q11 deletion and mechanical therapy of diagnosed biomechanical foot abnormalities was instituted. The prevalences of PUA, sleep disturbance and exercise intolerance were found to be significantly higher in patients with 22q11 deletion compared with children of the general population. The clinical picture of PUA is reported and the previously unrecorded association between PUA, sleep disturbance and exercise intolerance is demonstrated in patients with 22q11 deletion. The implications of the differences in the clinical picture and the symptom association between the two populations are discussed. The ages of 8-9 years and 12-13 years emerged as periods during which a possible significant change may occur leading to a dramatic change in the prevalence of PUA, sleep disturbance and exercise intolerance. The clinical study reports the prevalence of biomechanical foot abnormalities in children with 22q11 deletion and presents evidence of the efficacy of mechanical therapy in alleviating patient’ symptoms. The association between biomechanical foot abnormalities and PUA, sleep disturbance and exercise intolerance is explored. This work suggests a possible multifactonal aetiology for the symptoms of PUA, sleep disturbance and exercise intolerance in patients with 22q11 deletion and recommends biomechanical assessment and mechanical therapy if appropriate for symptomatic patients