The Pattern of Growth Failure in Rett Syndrome

Vítolo²,

et al. 2008

Arq. Gastroenterol.

-Background -Disturbance in chewing, swallowing and digestive motility may predispose to feeding and nutritional abnormalities in patients with Rett syndrome. Objective -To evaluate the dietary habits, nutritional status and the prevalence of constipation in patients with classical Rett syndrome. Methods -Twenty seven female patients between the ages of 2.6 and 21.8 years were studied. The following parameters were evaluated: food register, weight, height and intestinal movement characteristics. Weight and height were compared with the National Center for Health Statistics standards. Results -The inability to ingest solid foods was observed in 80.8% of the patients. A height-to-age deficit was observed in 13 (48.1%) of the girls, being more intense in patients at stage IV. Weight-for-height deficit was found in 10 (37.0%) patients, 15 (55.6%) showed normal weight and 2 (7.4%) were overweight for their height. The median ingestion of energy, according to weight-for-height, was equal to 106.6%. Insufficient iron ingestion was observed in 63.0% and insufficient calcium in 55.6% of the patients. Constipation was verified in 74.1% of the patients and did not show a relationship with the quantity of fiber in the diet. Conclusion -Various nutritional problems, as well as, intestinal constipation were observed in these patients with Rett syndrome, and they must be considered in the multidisciplinary therapeutic planning of these individuals.

“…Expected weight for current height, and 3. Chronological age (20) . Energy intake was considered adequate when intake was 100% or above the recommended allowance.…”

Section: Assessment Of Food Intakementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Eating practices, nutritional status and constipation in patients with Rett syndrome

Vítolo²,

et al. 2008

Arq. Gastroenterol.

“…These findings of delayed or arrested developmental are sufficiently subtle that specific delays are not often suspected until the second year of life when frank regression, accompanied in some by autistic-like social avoidance, is noted. Other clues may also be present, including abnormal deceleration of head circumference increase (a barometer of appropriate brain growth; [26][27][28]), reduction in muscle tone, and an overall appearance of being too quiet or Bgood^. This is punctuated in some individuals by periods of inappropriate and unexplained screaming spells.…”

Section: Clinical Featuresmentioning

confidence: 99%

Rett Syndrome: Reaching for Clinical Trials

2015

Rett syndrome (RTT) is a syndromic autism spectrum disorder caused by loss-of-function mutations in MECP2. The methyl CpG binding protein 2 binds methylcytosine and 5-hydroxymethycytosine at CpG sites in promoter regions of target genes, controlling their transcription by recruiting co-repressors and co-activators. Several preclinical studies in mouse models have identified rational molecular targets for drug therapies aimed at correcting the underlying neural dysfunction. These targeted therapies are increasingly translating into human clinical trials. In this review, we present an overview of RTT and describe the current state of preclinical studies in methyl CpG binding protein 2-based mouse models, as well as current clinical trials in individuals with RTT.

American J of Med Genetics Pt A

Genotype–phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

Halbach

Smeets

Braak

et al. 2011

Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in MECP2, large retrospective genotype-phenotype correlation studies have been performed. A number of general genotype-phenotype relationships were confirmed and specific disorder profiles were described. Nevertheless, conflicting results are still under discussion, partly due to the variability in classification of mutations, assessment tools, and structure of the data sets. The aim of this study was to investigate relationships between genotype and specific clinical data collected by the same experienced physician in a well-documented RTT cohort, and evaluate its prognostic value in counseling young parents with a newly diagnosed RTT girl regarding her future outcome. The Maastricht-Leuven Rett Syndrome Database is a register of 137 molecularly confirmed clinical RTT cases, containing both molecular and clinical data on examination and follow up by the same experienced physician. Although the general genotype-phenotype relationships were confirmed, the clinical severity was still found to be very variable. We therefore recommend caution in using genotype-phenotype data in the prognosis of outcome for children in Rett syndrome. Early diagnosis, early intervention, and preventive management are imperative for better outcomes and better quality of daily life for RTT females and their families.