Abstract
Purpose
To investigate walking ability in Japanese patients with Rett syndrome (RTT).
Methods
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.
Results
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
R294X.
Conclusions
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.
Keywords
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References
- Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.Nat Genet. 1999; 23: 185-188
- Rett syndrome: revised diagnostic criteria and nomenclature.Ann Neurol. 2010; 68: 944-950
- Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.Neurology. 2008; 70: 1313-1321
- Rett syndrome and long term disorder profile.Am J Med Genet Part A. 2009; 149A: 199-205
- Investigation genotype-phenotype relationships in Rett syndrome using an international data set.Neurology. 2008; 70: 868-875
- The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.Am J Med Genet B Neuropsychiatr Genet. 2006; 141: 177-183
- Clinical severity and quality of life in children and adolescents with Rett syndrome.Neurology. 2011; 77: 1812-1818
- Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.J Med Genet. 2019; 56: 396-407
- Predictive value of the early clinical signs in Rett disorder.Brain Dev. 2005; : S20-S24
- Scoliosis in Rett syndrome: progression, comorbidities, and predictors.Pediatr neurol. 2017; 70: 20-25
- The spectrum of phenotypes in females with Rett syndrome.Brain Dev. 2003; 25: 346-351
- The Rett syndrome: gross motor disability and neural impairment in adults.Brain Dev. 1990; 12: 23-26
- Developmental delay in Rett syndrome: data from the natural history study.J Neurodev Disord. 2014; 6: 20
- Early motor disturbances in Rett syndrome and its pathophysiological importance.Brain Dev. 2005; 27: S54-S58
- Pathophysiology of Rett syndrome from the standpoint of clinical characteristics.Brain Dev. 2001; 23: S94-S98
- Growth failure and outcome in Rett syndrome.Neurology. 2012; 79: 1653-1661
- Extrapyramidal involvement in Rett's syndrome.Neurology. 1990; 40: 293-295
- Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.Mov Disord. 2008; 23: 1384-1390
- Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.Am J Med Genet. 2004; 126A: 129-140
- Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.J Med Genet. 2014; 51: 152-158
- Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome.Dev Med Child Neurol. 2017; 59: 605-611
- Clinical and biological progress over 50 years in Rett syndrome.Nat Rev Neurol. 2017; 13: 37-51
Article info
Publication history
Published online: July 17, 2020
Accepted:
June 22,
2020
Received in revised form:
May 29,
2020
Received:
February 13,
2020
Identification
Copyright
© 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.