Gastrostomy Placement Improves Height and Weight Gain in Girls With Rett Syndrome

Motil, Kathleen J.; Morrissey, M. S. C.; Caeg, Erwin; Barrish, James P.; Glaze, Daniel G.

doi:10.1097/mpg.0b013e31818f61fd

Cited by 32 publications

(41 citation statements)

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“…Recent evidence supports the association between mitochondrial dysfunction and epilepsy, and nutritional intervention has been a fundamental component of managing mitochondrial disease (Yuen and Sander, 2011;Kim do et al, 2015). Adequate nutrition, by gastrostomy tube when needed, can improve somatic growth in Rett syndrome markedly (Motil et al, 2009), and the association between growth and epilepsy raises the possibility that early nutritional intervention could decrease seizure prevalence in Rett syndrome. Notably, the proportion of seizures in different categories was markedly different when standard growth curves were used compared to Rett-specific curves; due to the confounding association with age, older individuals have both higher seizure prevalence and lower z-scores on standard charts.…”

Section: Discussionmentioning

confidence: 99%

Longitudinal course of epilepsy in Rett syndrome and related disorders

Tarquinio

Hou

Berg

et al. 2016

Brain

100

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Epilepsy is common in Rett syndrome, an X-linked dominant disorder caused by mutations in the MECP2 gene, and in Rett-related disorders, such as MECP2 duplication. However, neither the longitudinal course of epilepsy nor the patterns of seizure onset and remission have been described in Rett syndrome and related conditions. The present study summarizes the findings of the Rett syndrome Natural History study. Participants with clinical Rett syndrome and those with MECP2 mutations without the clinical syndrome were recruited through the Rett Natural History study from 2006 to 2015. Clinical details were collected, and cumulative lifetime prevalence of epilepsy was determined using the Kaplan-Meier estimator. Risk factors for epilepsy were assessed using Cox proportional hazards models. Of 1205 participants enrolled in the study, 922 had classic Rett syndrome, and 778 of these were followed longitudinally for 3939 person-years. The diagnosis of atypical Rett syndrome with a severe clinical phenotype was associated with higher prevalence of epilepsy than those with classic Rett syndrome. While point prevalence of active seizures ranged from 30% to 44%, the estimated cumulative lifetime prevalence of epilepsy using Kaplan-Meier approached 90%. Specific MECP2 mutations were not significantly associated with either seizure prevalence or seizure severity. In contrast, many clinical features were associated with seizure prevalence; frequency of hospitalizations, inability to walk, bradykinesia, scoliosis, gastrostomy feeding, age of seizure onset, and late age of diagnosis were independently associated with higher odds of an individual having epilepsy. Aggressive behaviour was associated with lower odds. Three distinct patterns of seizure prevalence emerged in classic Rett syndrome, including those who did not have seizures throughout the study, those who had frequent relapse and remission, and those who had relentless seizures. Although 248 of those with classic Rett syndrome and a history of seizures were in terminal remission at last contact, only 74 (12% of those with a history of epilepsy) were seizure free and off anti-seizure medication. When studied longitudinally, point prevalence of active seizures is relatively low in Rett syndrome, although lifetime risk of epilepsy is higher than previously reported. While daily seizures are uncommon in Rett syndrome, prolonged remission is less common than in other causes of childhood onset epilepsy. Complete remission off anti-seizure medications is possible, but future efforts should be directed at determining what factors predict when withdrawal of medications in those who are seizure free is propitious.

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Section: Discussionmentioning

confidence: 99%

Longitudinal course of epilepsy in Rett syndrome and related disorders

Tarquinio

Hou

Berg

et al. 2016

Brain

100

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“…Problems involving the gastrointestinal tract are seen from top to bottom [70–73]. These include manipulation of food in the mouth, swallowing issues, gastroesophageal reflux, delayed gastric emptying, constipation, and gallbladder dysfunction.…”

Section: Gastrointestinal Featuresmentioning

confidence: 99%

Progress in Rett Syndrome: from discovery to clinical trials

Percy

2016

Wien Med Wochenschr

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SummaryFifty years ago, Andreas Rett described a disorder in 22 females featuring prominent regression of fine motor and communication skills, cognitive impairment, stereotypic movements, periodic breathing, and gait abnormalities. This disorder became known as Rett syndrome (RTT) following the report of Hagberg et al. in 1983. Although RTT was scarcely recognized at that time in the United States, here the efforts of Rett and Hagberg led to rapid progress in recognition and diagnosis, a clearer understanding of its clinical and pathological underpinnings, and, ultimately, identification of mutations in the methyl-CpG-binding protein 2 (MECP2) gene as the primary cause of this unique and challenging neurodevelopmental disorder. Thereafter, a natural history study and critical translational research in animal models paved the way for potential disease-modifying agents to be assessed in human clinical trials. To be successful, the energies of the international community at all levels, including researchers in clinical and basic science, funding agencies, pharmaceutical companies, patient advocates, and, above all, parents and their children are essential. Otherwise, hopes for effective treatment, if not, a cure, will remain unfulfilled.

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“…These findings suggest both that growth is an important outcome for clinical trials and that improved nutrition could moderate the association between growth and development. 34 No study has adequately examined BMI in RTT. One assessed BMI in large age clusters that precluded analysis of BMI velocity.…”

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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Gastrostomy Placement Improves Height and Weight Gain in Girls With Rett Syndrome

Cited by 32 publications

References 36 publications

Longitudinal course of epilepsy in Rett syndrome and related disorders

Longitudinal course of epilepsy in Rett syndrome and related disorders

Progress in Rett Syndrome: from discovery to clinical trials

Growth failure and outcome in Rett syndrome

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