ArticleInternational journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience2019
Surface- and voxel-based brain morphologic study in Rett and Rett-like syndrome with MECP2 mutation.
Article in International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Globally Reduced Brain Volume in Rett Syndrome.Pediatric neurology · 2025Article
- Autism-associated brain differences can be observed in utero using MRI.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- Brain morphometric changes in children born as small for gestational age without catch up growth.Frontiers in neuroscience · 2024Article
- A Brain Morphometry Study with Across-Site Harmonization Using a ComBat-Generalized Additive Model in Children and Adolescents.Diagnostics (Basel, Switzerland) · 2023Article
- Brain structure alterations in girls with central precocious puberty.Frontiers in neuroscience · 2023Article
- Brain structural alterations in young girls with Rett syndrome: A voxel-based morphometry and tract-based spatial statistics study.Frontiers in neuroinformatics · 2022Article
- Multimodal Neuroimaging in Rett Syndrome WithFrontiers in neurology · 2022Review
- Quantitative Structural Brain Magnetic Resonance Imaging Analyses: Methodological Overview and Application to Rett Syndrome.Frontiers in neuroscience · 2022Review
- Comprehensive Volumetric Analysis ofFrontiers in neuroscience · 2022Article
- Integration of structural MRI and epigenetic analyses hint at linked cellular defects of the subventricular zone and insular cortex in autism: Findings from a case study.Frontiers in neuroscience · 2022Article
- Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2021Article
- MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders.EMBO molecular medicine · 2020Article
- Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic.International journal of molecular sciences · 2019Review
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Authors and funding
3 authors at 1 institution in 3 countries.
Funding
Abstract
Rett syndrome (RTT) is a rare congenital disorder which in most cases (95%) is caused by methyl-CpG binding protein 2 (MECP2) mutations. RTT is characterized by regression in global development, epilepsy, autistic features, acquired microcephaly, habitual hand clapping, loss of purposeful hand skills, and autonomic dysfunctions. Although the literature has demonstrated decreased volumes of the cerebrum, cerebellum, and the caudate nucleus in RTT patients, surface-based brain morphology including cortical thickness and cortical gyrification analyses are lacking in RTT. We present quantitative surface- and voxel-based morphological measurements in young children with RTT and Rett-like syndrome (RTT-l) with MECP2 mutations. The 8 structural T1-weighted MR images were obtained from 7 female patients with MECP2 mutations (3 classic RTT, 2 variant RTT, and 2 RTT-l) (mean age 5.2 [standard deviation 3.3] years old). Our analyses demonstrated decreased total volumes of the cerebellum in RTT/RTT-l compared to gender- and age-matched controls (t (22)=-2.93, p = .008, Cohen's d = 1.27). In contrast, global cerebral cortical surface areas, global/regional cortical thicknesses, the degree of global gyrification, and global/regional gray and white matter volumes were not statistically significantly different between the two groups. Our findings, as well as literature findings, suggest that early brain abnormalities associated with RTT/RTT-l (with MECP2 mutations) can be detected as regionally decreased cerebellar volumes. Decreased cerebellar volume may be helpful for understanding the etiology of RTT/RTT-l.
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