Table 1

Symptoms at first presentation (n=87)

SignPresent in %
Developmental delay80
Hypotonia10
Gastrointestinal16
 Failure to thrive/growth delay/poor weight gain8
 Vomiting5
 Gastrointestinal reflux2
 Feeding difficulties/poor suck and swallowing5
Seizures10
Behavioural problems6
Other (clubfoot, strabismus, adducted thumbs and laryngomalacia, PVCs, apnoea)6
  • PVCs, premature ventricular contractions.