To investigate walking ability in Japanese patients with Rett syndrome (RTT).
Walking ability was assessed in 100 female Japanese patients with RTT using univariate
and multivariate analysis in all age groups, and in patients over 10 years of age.
We analyzed walking ability and confounding factors including prenatal-perinatal histories,
developmental milestones, somatic and head growth, anthropometric data, body mass
index, age of loss of purposeful hand use, age at onset of stereotypic hand movement,
history of autistic behavior, age at regression, presence or absence of seizures,
and the results of MECP2 genetic examination from the Japanese Rett syndrome database.
Univariate analysis revealed that acquisition of walking in all age groups was significantly
correlated with the acquisition of meaningful words, microcephaly, and crawling (P < 0.0001,
P = 0.005, P < 0.0001, respectively). Univariate analysis revealed that walking ability
over 10 years of age was significantly correlated with acquisition of meaningful words,
microcephaly, and body mass index (P < 0,0001, P = 0.005, P = 0.0018, respectively).
MECP2 mutations R306C, R133C, and R294X were significantly associated with different acquisition
of crawling (P = 0.004) and walking (P = 0.01). Multivariate analysis revealed that
only acquisition of meaningful words was significantly correlated with walking ability
over 10 years of age. This trend excluded the genetic effects of R306C, R133C, and
Meaningful word acquisition was robustly associated with walking ability over 10 years.
Prognosis of walking ability may be predicted by the acquisition of meaningful words.
This information is potentially useful for early intervention and the planning of
comprehensive treatment for young children with RTT.