Osteopenia 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.

Section: Discussionmentioning

confidence: 67%

Section: Discussionmentioning

confidence: 79%

Section: Discussionmentioning

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.

“…Previously, dual-energy x-ray absorptiometry (DXA) studies have reported low bone mass in patients with RTT (4)(5)(6)(7)(8), and increased occurrence of low-energy fractures in these patients has also been shown (9). Patients with RTT are often growth retarded (10).…”

mentioning

confidence: 99%

Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis

et al. 2013

Background:Patients with Rett syndrome (RTT) are at risk of having low bone mass and low-energy fractures. Methods: We characterized bone metabolism by both bone formation and resorption markers in blood in a RTT population of 61 girls and women and 122 well-matched healthy controls. Levels of N-terminal propeptides of collagen type 1 (P1NP), C-terminal telopeptide cross links (CTX), osteocalcin (OC), and bone-specific alkaline phosphatase (B-ALP) were compared between RTT patients and controls in regression models adjusted for BMI, vitamin D status, volumetric bone mineral apparent density of the lumbar spine (vBMAD spine ), and femoral neck (vBMAD neck ). We examined biochemical bone marker levels overall and stratified to persons younger than age 25 y or equal to or older than age 25 y. results: The RTT patients had reduced levels of all biochemical bone markers (P < 0.05), which remained significant in persons younger than 25 y (P ≤ 0.001) regarding P1NP, CTX, and OC. Bone marker levels were not significantly associated to methyl-CpG-binding protein 2 (MECP2) mutation group, walking ability, or previous low-energy fractures. conclusion: Our findings of a low bone turnover state in girls with RTT suggest critical attention to medical treatment of low bone mass in young RTT patients.

J. pediatr. gastroenterol. nutr.

Oropharyngeal Dysfunction and Gastroesophageal Dysmotility Are Present in Girls and Women with Rett Syndrome

Motil,

Schultz,

Browning

et al. 1999

Background:Feeding impairment frequently complicates the course of children with neurologic disorders and places them at risk for malnutrition and growth failure. Although feeding abnormalities have been reported in female patients with Rett syndrome, the mechanisms that account for these findings have not been elucidated fully. This study was designed to characterize the clinical features of oropharyngeal and gastroesophageal dysfunction and their impact on the dietary intake and nutritional status of female subjects with Rett syndrome.Methods:The clinical features of oropharyngeal and gastroesophageal dysfunction in 13 female patients with Rett syndrome, (age range, 3.7 to 25.7 years) were characterized by an oral feeding assessment, swallowing function study, and upper gastrointestinal series. Growth, nutritional status, and body composition were determined by stadiometry and anthropometry. Dietary intakes were determined from 3‐day food records.Results:Oropharyngeal dysfunction and gastroesophageal dysmotility were present in 100% and 69%, respectively, of the study patients with Rett syndrome. The scope and severity of these abnormalities were apparent only by videofluoroscopy. Abnormalities of oropharyngeal function included poor tongue mobility, reduced oropharyngeal clearance, and laryngeal penetration of liquids and solid food during swallowing. Esophageal dysmotility included absent primary or secondary waves, delayed emptying, atony, the presence of tertiary waves, spasm, and gastroesophageal reflux. Gastric dysmotility included diminished peristalsis or atony. Lower dietary energy intakes were associated with persistence of residue in the valleculae and pyriform sinuses and less body fat.Conclusion:The prevalence of oropharyngeal dysfunction and gastroesophageal dysmotility warrants early diagnostic evaluation and intervention strategies to improve the nutritional status of girls and women with RS.