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

Schwartzman, Flávia; Vítolo, Márcia Regina; Schwartzman, José Salomão; Morais, Mauro Batista de

doi:10.1590/s0004-28032008000400005

Cited by 24 publications

(34 citation statements)

References 24 publications

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“…Similarly, Schwartzman reported a height-to-age deficit in 48.1% of RTT girls which was greater in those more severely affected (stage IV) (12). Although, the availability of BMC standards for young girls is limited to over 7 years, BMC was measured because girls with RTT are small for age.…”

Section: Discussionmentioning

confidence: 87%

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Bone Mass in Rett Syndrome: Association with Clinical Parameters and MECP2 Mutations

et al. 2010

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Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. In 49 female RTT children, ages 1.9–17 years, bone mass was assessed and correlated with clinical parameters and mutations involving the MECP2 gene. We also studied 5 adult females, ages 20–33 years, and one male, age 6 years. Lumbar spine bone mineral content (BMC) and bone mineral density (BMD) were correlated with weight, height, body mass index, clinical severity, degree of scoliosis, use of anticonvulsants and ambulatory status. L1–L4 BMD and BMC showed that 48.9% of them had BMD values greater than 2 SD below age-related norms. BMD values were in the osteoporotic range in the 5 adult females with RTT. Eleven percent of the children and adults with RTT experienced fractures. Low bone mass was correlated with marginal significance to clinical severity and ambulation, but not to scoliosis or anticonvusant use. Lowest bone mass occurred in patients with T158M or R270X mutations but without statistical significance. Studies in a murine model of RTT confirmed low bone mass as an inherent component of this syndrome. MECP2 mutations and clinical parameters impact bone mass in RTT but an association with a specific mutation was not demonstrable.

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Section: Discussionmentioning

confidence: 87%

“…Poor nutrition and diminished growth are frequent among children with RTT (12). The average body mass index was 16.4 ± 3.6 in children to age 18.…”

Section: Contributory Factors Related To Bone Massmentioning

confidence: 99%

Bone Mass in Rett Syndrome: Association with Clinical Parameters and MECP2 Mutations

et al. 2010

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“…Parents describe their daughters as having excellent appetites, but girls and women with RTT have greater difficulty eating solid foods than drinking thickened liquids because chewing difficulty prevails over swallowing dysfunction (8,15,16). Bruxism, involuntary tongue movements, and ineffective mastication, contribute to prolonged feeding time (17,18).…”

Section: Discussionmentioning

confidence: 99%

Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome

Motil

Caeg

Barrish

et al. 2012

J. pediatr. gastroenterol. nutr.

168

148

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Objective We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting and related the occurrence of these problems to age and methyl-CpG-binding protein 2 (MECP2) status. Methods We designed a questionnaire that probed symptoms, diagnoses, diagnostic tests, and treatment interventions related to gastrointestinal and nutritional problems in RTT. The International Rett Syndrome Foundation distributed the questionnaire to 1666 family-based members and forwarded their responses for our review. We interrogated the Rare Disease Clinical Research Network database to supplement findings related to medications used to treat gastrointestinal problems in RTT. Results Parents of 983 RTT females (59%) responded and identified symptoms and diagnoses associated with gastrointestinal dysmotility (92%); chewing and swallowing difficulties (81%); weight deficits or excess (47%); growth deficits (45%); low bone mineral content or fractures (37%); biliary tract disorders (3%). Height, weight, and BMI z-scores decreased significantly with age; height and weight, but not BMI, z-scores were significantly lower in females with MECP2 mutations than those without. Vomiting, nighttime awakening, gastroesophageal reflux, chewing difficulty, and choking with feeding were significantly less likely to occur with increasing age. Short stature, low bone mineral content, fractures, and gastrostomy placement were significantly more likely to occur with increasing age. Chewing difficulty, choking with feeding, and nighttime awakening were significantly less likely to occur, whereas short stature was significantly more likely to occur, in females with MECP2 mutations than those without. Diagnostic evaluations and therapeutic interventions were utilized less frequently than the occurrence of symptoms or diagnoses in the RTT cohort. Conclusion Gastrointestinal and nutritional problems perceived by parents are prevalent throughout life in girls and women with RTT and may pose a substantial medical burden for their caregivers. Physician awareness of these features of RTT may improve the health and quality of life of individuals affected with this disorder.

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“…Energy dense foods are the most appropriate way of increasing caloric intake 26–28 and frequent snacks of high calorie nutritional supplements can be administered. The panel agreed that a daily diet containing the recommended daily allowance for essential nutrients was optimal, administered during frequent small feeds offered throughout the day.…”

Section: Resultsmentioning

confidence: 99%

Assessment and Management of Nutrition and Growth in Rett Syndrome

Leonard

Ravikumara

Baikie

et al. 2013

J. pediatr. gastroenterol. nutr.

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Objectives We developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an expert panel of clinicians. Methods Initial draft recommendations were created based upon literature review and 34 open-ended questions where the literature was lacking. Statements and questions were made available to an international, multi-disciplinary panel of clinicians in an online format and a Microsoft Word formatted version of the draft via email. Input was sought using a 2-stage modified Delphi process to reach consensus agreement. Items included clinical assessment of growth, anthropometry, feeding difficulties and management to increase caloric intake, decrease feeding difficulties and consideration of gastrostomy. Results Agreement was achieved on 101/112 statements. A comprehensive approach to the management of poor growth in Rett syndrome is recommended that takes into account factors such as feeding difficulties and nutritional needs. A BMI of approximately the 25th centile can be considered as a reasonable target in clinical practice. Gastrostomy is indicated for very poor growth, if there is risk of aspiration and if feeding times are prolonged. Conclusions These evidence- and consensus-based recommendations have the potential to improve care of nutrition and growth in a rare condition and stimulate research to improve the current limited evidence base.

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

Cited by 24 publications

References 24 publications

Bone Mass in Rett Syndrome: Association with Clinical Parameters and MECP2 Mutations

Bone Mass in Rett Syndrome: Association with Clinical Parameters and MECP2 Mutations

Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome

Assessment and Management of Nutrition and Growth in Rett Syndrome

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