Abstract
Purpose
Diagnosis of Rett syndrome (RTT) is often delayed. We sought to determine the type
of physician who typically makes the RTT diagnosis and to identify risk factors for
delayed diagnosis.
Methods
A total of 1085 participants from the multicenter longitudinal RTT natural history
study with classic and atypical RTT were recruited between 2006 and 2014. Age of diagnosis,
diagnostician, diagnostic criteria, and clinical and developmental data were collected.
Results
Among 919 classic and 166 atypical RTT participants, the median diagnosis age was
2.7 years (interquartile range 2.0-4.1) in classic and 3.8 years (interquartile range
2.3-6.9) in atypical RTT. Pediatricians made the diagnosis of classic RTT rarely (5.2%);
however, the proportion diagnosed by pediatricians has increased since 2006. Since
the first diagnostic criteria, the age of diagnosis decreased among subspecialists
but not pediatricians. Odds of a pediatrician making the diagnosis of classic RTT
were higher if a child stopped responding to parental interaction, and lower if they
possessed gastroesophageal reflux, specific stereotypies, lost babbling, or the ability
to follow commands. Delayed acquisition of basic gross motor skills or finger feeding
was associated with younger diagnosis; delayed acquisition of higher level fine motor
skills, later onset of supportive features, and normal head circumference were associated
with late diagnosis. Thirty-three percent with microcephaly before 2.5 years were
diagnosed after the median age of 2.7 years.
Conclusions
Age of RTT diagnosis has improved among subspecialists, and pediatricians have made
the diagnosis of classic RTT more frequently since 2006. Strategies for educating
diagnosticians should incorporate specific risk factors for delayed diagnosis.
Keywords
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Article info
Publication history
Published online: February 16, 2015
Accepted:
February 9,
2015
Received:
January 6,
2015
Footnotes
DCT participated in study conduct, data collection, manuscript preparation, performed statistical analyses, and approved the final manuscript as submitted. WH performed statistical analyses, participated in manuscript preparation, and approved the final manuscript as submitted. JLN, JBL, AKP, JLN, JBL, and AKP participated in study conceptualization, study conduct, data collection, manuscript review, and approved the final manuscript as submitted. KVB, HMO, WEK, KJM, DGG, SAS, FA, LB, JOB, SPG, NMB, WEK, KJM, and DGG participated in study conduct, data collection, manuscript review, and approved the final manuscript as submitted.
Identification
Copyright
© 2015 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
