Eating difficulties in girls with Rett syndrome compared with other developmental disabilities

Isaacs, Janet Sugarman; Murdock, M; Lane, Jane; Percy, Alan K.

doi:10.1053/jada.2003.50026

Cited by 36 publications

(28 citation statements)

References 12 publications

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“…Further, the girls with Rett syndrome diagnosed with osteopenia were at increased risk of fracture. Girls with Rett syndrome are likely to be severely underweight and have physical barriers to adequate nutrition (oropharyngeal dysfunction, sensory deficits, texture intolerance), and their lack of bone development may be attributable to undernutrition in general (Isaacs et al 2003). In this study, the boys with autism tended instead to be overweight and few were even moderately underweight, implying that their diminished bone development was more likely related to specific nutrient deficits, such as calcium and vitamin D, as opposed to overall undernutrition or energy deprivation.…”

Section: Discussionmentioning

confidence: 99%

“…Rett syndrome, an X-linked neurodegenerative disorder that generally affects females, has autistic features as part of its early constellation, as well as other GI, swallowing, and eating disorders (Dunn and MacLeod 2001;Isaacs et al 2003). Leonard and her colleagues (1999) reported that, compared with an age-matched sample of control girls whose radiographs were taken from radiographic libraries, girls with Rett syndrome had BCT values that were dramatically lower (-1.14 mm, p \ .001), indicating a significant reduction in bone mass.…”

Section: Discussionmentioning

confidence: 99%

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Reduced Bone Cortical Thickness in Boys with Autism or Autism Spectrum Disorder

Hediger

England

Molloy

et al. 2007

J Autism Dev Disord

161

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Bone development, casein-free diet use, supplements, and medications were assessed for 75 boys with autism or autism spectrum disorder, ages 4-8 years. Second metacarpal bone cortical thickness (BCT), measured on hand-wrist radiographs, and % deviations in BCT from reference medians were derived. BCT increased with age, but % deviations evidenced a progressive fall-off (p = .02): +3.1 +/- 4.7%, -6.5 +/- 4.0%, -16.6 +/- 3.4%, -19.4 +/- 3.7%,-24.1 +/- 4.4%, at ages 4-8, respectively, adjusting for height. The 12% of the boys on casein-free diets had an overall % deviation of -18.9 +/- 3.7%, nearly twice that of boys on minimally restricted or unrestricted diets (-10.5 +/- 1.3%, p < .04), although even for boys on minimally restricted or unrestricted diets the % deviation was highly significant (p < .001). Our data suggest that the bone development of autistic boys should be monitored as part of routine care, especially if they are on casein-free diets.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Reduced Bone Cortical Thickness in Boys with Autism or Autism Spectrum Disorder

Hediger

England

Molloy

et al. 2007

J Autism Dev Disord

161

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“…Additionally, abolishing Mecp2 expression in the embryonic brain results in similar RTT phenotypes caused by Mecp2 null mutations affecting all murine tissues (Chen et al 2001;Guy et al 2001). Nonetheless, non-neuronal RTT symptoms such as scoliosis, breathing/ respiratory abnormalities, cardiac problems, difficulty in feeding and limb movements indicate the importance of MeCP2 expression outside the central nervous system (Guideri and Acampa 2005;Ogier and Katz 2008;Nomura and Segawa 1992;Isaacs et al 2003;Ezeonwuka and Rastegar 2014).…”

Section: Mecp2 Expressionmentioning

confidence: 99%

Rett Syndrome and MeCP2

2014

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Rett syndrome (RTT) is a severe and progressive neurological disorder, which mainly affects young females. Mutations of the methyl-CpG binding protein 2 (MECP2) gene are the most prevalent cause of classical RTT cases. MECP2 mutations or altered expression are also associated with a spectrum of neurodevelopmental disorders such as autism spectrum disorders with recent links to fetal alcohol spectrum disorders. Collectively, MeCP2 relation to these neurodevelopmental disorders highlights the importance of understanding the molecular mechanisms by which MeCP2 impacts brain development, mental conditions, and compromised brain function. Since MECP2 mutations were discovered to be the primary cause of RTT, a significant progress has been made in the MeCP2 research, with respect to the expression, function and regulation of MeCP2 in the brain and its contribution in RTT pathogenesis. To date, there have been intensive efforts in designing effective therapeutic strategies for RTT benefiting from mouse models and cells collected from RTT patients. Despite significant progress in MeCP2 research over the last few decades, there is still a knowledge gap between the in vitro and in vivo research findings and translating these findings into effective therapeutic interventions in human RTT patients. In this review, we will provide a synopsis of Rett syndrome as a severe neurological disorder and will discuss the role of MeCP2 in RTT pathophysiology.

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“…However, feeding difficulties and abnormalities of the digestive tract in many RTT individuals have been noted (Isaacs et al, 2003;Lotan and Zysman, 2006), which may contribute to deficiencies in essential nutrients. Choline levels, measured in children and adults with RTT, are reportedly comparable to controls (Gokcay et al, 2002;Hashimoto et al, 1998;Khong et al, 2002), or elevated (Horska et al, 2000;Naidu et al, 2001); however, the profiles of choline during development are still unknown.…”

Section: Possible Mechanisms Through Which Choline May Alter Behaviormentioning

confidence: 98%