Head growth in Rett syndrome

Hagberg, G; Stenbom, Y.; Engerström, I Witt

doi:10.1111/j.1651-2227.2000.tb01216.x

Cited by 35 publications

(10 citation statements)

References 9 publications

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“…Post-mortem studies of RTT patients revealed lower hippocampal spine density and reductions in dendritic branching of CA1 pyramidal cells and decreased spine density in the frontal, parietal, temporal, and occipital cortices (Armstrong et al, 1995;Armstrong, 2001;Belichenko and Dahlstrom, 1995). In addition, neuronal cell size (Chen et al, 2001;Hagberg et al, 2001) and white matter volume are reduced, whereas there is also evidence of cerebellar degeneration in RTT patients (Reardon et al, 2010). Mouse models of RTT have demonstrated similar reductions in dendritic complexity and cell size (Fukuda et al, 2005;Kishi and Macklis, 2004;Kriaucionis and Bird, 2003;Zoghbi, 2003) with smaller cell size and increased density of neurons (Chen et al, 2001) and reduced brain volume in the amygdala, hippocampus, and striatum in loss-of-function models (Stearns et al, 2007).…”

Section: Loss-or Gain-of-mecp2 Function Has Deleterious Effects On Dementioning

confidence: 99%

The Impact of MeCP2 Loss- or Gain-of-Function on Synaptic Plasticity

Nelson

Kavalali³

et al. 2012

Neuropsychopharmacol

159

116

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Methyl-CpG-binding protein 2 (MeCP2) is a transcriptional regulator of gene expression that is an important epigenetic factor in the maintenance and development of the central nervous system. The neurodevelopmental disorders Rett syndrome and MECP2 duplication syndrome arise from loss-of-function and gain-of-function alterations in MeCP2 expression, respectively. Several animal models have been developed to recapitulate the symptoms of Rett syndrome and MECP2 duplication syndrome. Cell morphology, neurotransmission, and cellular processes that support learning and memory are compromised as a result of MeCP2 loss-or gain-of-function. Interestingly, loss-of-MeCP2 function and MeCP2 overexpression trigger diametrically opposite changes in synaptic transmission. These findings indicate that the precise regulation of MeCP2 expression is a key requirement for the maintenance of synaptic and neuronal homeostasis and underscore its importance in central nervous system function. This review highlights the functional role of MeCP2 in the brain as a regulator of synaptic and neuronal plasticity as well as its etiological role in the development of Rett syndrome and MECP2 duplication syndrome.

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Section: Loss-or Gain-of-mecp2 Function Has Deleterious Effects On Dementioning

confidence: 99%

The Impact of MeCP2 Loss- or Gain-of-Function on Synaptic Plasticity

Nelson

Kavalali³

et al. 2012

Neuropsychopharmacol

159

116

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“…Early development was not invariably normal 109 nor did deceleration of head growth always occur. 110 In 2010 a further set of criteria was introduced in the hope of clarifying some of the differences in terminology between Europe and North America (see Fig. 1).…”

Section: Clinical Features and Diagnosismentioning

confidence: 99%

Clinical and biological progress over 50 years in Rett syndrome

2016

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It is fifty years since Andreas Rett first described Rett syndrome, a disorder now known to be caused by a mutation in the MECP2 gene. A compelling blend of astute clinical observations, clinical and laboratory research has already built our understanding of Rett syndrome and its biological underpinnings. We document the contributions of the early pioneers and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, the lessons from both cell and animal models and how they may inform future clinical trials. With a focus on the core criteria, we examine the relationships that have been demonstrated between genotype and clinical severity. We review what is known about the many comorbidities that occur in this disorder and how genotype may also modify their presentation. We acknowledge the important drivers that are accelerating this research program including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we conclude by highlighting the major milestones since 1966 and what they mean for the day-to-day lives of those with Rett syndrome and their families. Key pointsThere has been an explosion of knowledge about Rett syndrome in relation to its genetic basis, clinical characteristics and their relationships during the fifty years since the disorder was first described by Andreas Rett.Whilst initially the diagnosis of Rett syndrome was based only on clinical criteria, identifying its genetic cause has had a major positive impact on how clinicians diagnose the disorder but also provides new challenges as we enter the era of next generation sequencing.

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“…36 However, most individuals with RTT after age 7Ϫ8 years have measurements less than Ϫ3 SD compared with those for unaffected individuals. 30,35 Statistical comparisons beyond Ϫ3 SD contain insufficient empirical data and are imprecise. 37 This study addressed methodologic concerns by recruiting 7% of the RTT population in the United States, ranging in disease severity and coming from many racial, ethnic, and geographical backgrounds, through the International Rett Syndrome Foundation.…”

Section: Figure 1 Height and Weight In Unaffected Children (Orange) Amentioning

confidence: 99%

“…DISCUSSION Growth studies in RTT have been limited to small populations 1,[27][28][29] or specific anthropometric measurements, 30,31 and most were performed before MECP2 mutations were discovered or used statistical methods insufficient for calculating z scores. This study demonstrates that the patterns of growth in RTT are different from those in unaffected individuals.…”

Section: Figure 1 Height and Weight In Unaffected Children (Orange) Amentioning

confidence: 99%

Growth failure and outcome in Rett syndrome

Tarquinio¹,

Motil²,

Hou³

et al. 2012

Neurology

112

110

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Objectives: Prominent growth failure typifies Rett syndrome (RTT). Our aims were to 1) develop RTT growth charts for clinical and research settings, 2) compare growth in children with RTT with that of unaffected children, and 3) compare growth patterns among RTT genotypes and phenotypes.Methods: A cohort of the RTT Rare Diseases Clinical Research Network observational study participants was recruited, and cross-sectional and longitudinal growth data and comprehensive clinical information were collected. A reliability study confirmed interobserver consistency. Reference curves for height, weight, head circumference, and body mass index (BMI), generated using a semiparametric model with goodness-of-fit tests, were compared with normative values using Student's t test adjusted for multiple comparisons. Genotype and phenotype subgroups were compared using analysis of variance and linear regression.Results: Growth charts for classic and atypical RTT were created from 9,749 observations of 816 female participants. Mean growth in classic RTT decreased below that for the normative population at 1 month for head circumference, 6 months for weight, and 17 months for length. Mean BMI was similar in those with RTT and the normative population. Pubertal increases in height and weight were absent in classic RTT. Classic RTT was associated with more growth failure than atypical RTT. In classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X). Conclusions:RTT-specific growth references will allow effective screening for disease and treatment monitoring. Growth failure occurs less frequently in girls with RTT with better development, less morbidity typically associated with RTT, and late truncation mutations. Neurology ® 2012;79:1653-1661 GLOSSARY ANOVA ϭ analysis of variance; BMI ϭ body mass index; CSS ϭ Clinical Severity Score; EDF ϭ equivalent degrees of freedom; FDR ϭ false discovery rate; FOC ϭ fronto-occipital head circumference; MBA ϭ Motor Behavioral Assessment; non-RTT ϭ participants possessing MECP2 mutation but without Rett syndrome; RNHS ϭ Rett Natural History Study; RTT ϭ Rett syndrome.Growth failure is a prominent feature in Rett syndrome (RTT); however, no RTT-specific growth charts exist. Many comorbid disorders have an impact on growth in RTT, such as oropharyngeal and gastrointestinal dysfunction, scoliosis, seizures, and osteopenia. The pattern of growth in female patients with RTT trends well below the lowest centile on standard growth references, 1 which fail to differentiate a normal RTT growth pattern from one caused by malnutrition or illness.Disease-specific standards screen for disease [2][3][4][5][6][7][8][9][10][11][12][13] and measure the effect of therapeutic interventions designed to improve nutrition and neurologic function.14,15 With more than 200 mutation sites identified in the methyl-CpG-binding protein 2 gene (MECP2), the clinical severity in RTT var...

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Head growth in Rett syndrome

Cited by 35 publications

References 9 publications

The Impact of MeCP2 Loss- or Gain-of-Function on Synaptic Plasticity

The Impact of MeCP2 Loss- or Gain-of-Function on Synaptic Plasticity

Clinical and biological progress over 50 years in Rett syndrome

Growth failure and outcome in Rett syndrome

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