Gross Motor Disability and Head Growth in Rett Syndrome - A Preliminary Report

Stenbom, Y.; Engerström, I Witt; Hagberg, G

doi:10.1055/s-2007-979731

Cited by 15 publications

(9 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Interestingly however, weight for height ratio did not decline with age, although these data were available for only a small subset of the sample. Also, in line with previous findings, these growth characteristics showed marginally significant associations with the physical features of RS, including motor ability, oral motor difficulties, fixed deformities, and breathing abnormalities (Stenbom et al 1995).…”

Section: Discussionsupporting

confidence: 90%

“…In common with previous studies, in the subsample for which growth characteristics were available, a significant proportion of the individuals with RS were of low weight and height and had smaller head circumferences. Further, the growth of these individuals decelerated in comparison with population norms with increasing age, such that by adulthood, almost all individuals were of low or extremely low weight, height and head circumference (Coleman et al 1988, Stenbom et al 1995. Interestingly however, weight for height ratio did not decline with age, although these data were available for only a small subset of the sample.…”

Section: Discussionmentioning

confidence: 88%

See 1 more Smart Citation

Findings from a multidisciplinary clinical case series of females with Rett syndrome

Cass

Reilly

Owen

et al. 2003

Develop Med Child Neuro

104

View full text Add to dashboard Cite

Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants’ ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self‐care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand‐use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS.

show abstract

Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 88%

Findings from a multidisciplinary clinical case series of females with Rett syndrome

Cass

Reilly

Owen

et al. 2003

Develop Med Child Neuro

104

View full text Add to dashboard Cite

show abstract

“…In a previous preliminary report on head growth in RS, we showed that at 12 y of age, there was a significant and successive deceleration with increasing gross motor disability (8). In the present study, we studied OFC longitudinally in girls within the Swedish RS register series with classic or forme fruste types.…”

mentioning

confidence: 67%

Head growth in Rett syndrome

Hagberg

Stenbom

Engerström

2001

Brain and Development

View full text Add to dashboard Cite

“…The reduced head circumference in Rett syndrome, which has been correlated with the degree of motor handicap [Stenbom et al, 1995;Hagberg et al, 2000] Casanova et al [1991] and Murakami et al [1992] reported a global hypoplasia of the brain by magnetic resonance imaging. Reiss et al [1993] and Subramajiam et al [1997] reported a significant reduction in grey matter throughout the cortex with greater reduction in prefrontal, posterior frontal, and anterior temporal regions.…”

mentioning

confidence: 99%

Neuropathology of Rett syndrome

Armstrong

2002

Ment. Retard. Dev. Disabil. Res. Rev.

106

View full text Add to dashboard Cite

Rett Syndrome is unlike any other pediatric neurologic disease, and its clinical-pathologic correlation can not be defined with standard histology techniques. Based on hypotheses suggested by careful clinical observations, the nervous system of the Rett child has been explored utilizing morphometry, golgi preparations, computerized tomography, magnetic resonance imaging, chemistry, immunocytochemistry, autoradiography, and molecular biologic techniques. From these many perspectives we conclude that Rett syndrome is not a typical degenerative disorder, storage disorder, nor the result of gross malformation, infectious or neoplastic processes. There remain regions of the brain that have not been studied in detail but the available data suggest that the neuropathology of Rett syndrome can be summarized as follows: the Rett brain is small for the age and the height of the patient; it does not become progressively smaller over three to four decades; it has small dendritic trees in pyramidal neurons of layers III and V in selected lobes (frontal, motor, and temporal); it has small neurons with an increased neuronal packing density; it has an immature expression of microtubular protein-2 and cyclooxygenase; it exhibits a changing pattern of neurotransmitter receptors with an apparent reduction in many neurotransmitters, possibly contributing to some symptomatology. A mutation in Mecp2 causes this unique disorder of brain development. Neuronal mosaicism for normal and mutated Mecp2 produces a consistent phenotype in the classic female patient and a small brain with some preserved islands of function, but with an inability to support hand use and speech. This paper summarizes our current observations about neuropathology of Rett syndrome. MRDD Research Reviews 2002;8:72-76.

show abstract

Gross Motor Disability and Head Growth in Rett Syndrome - A Preliminary Report

Abstract: Growth of head circumference was measured in 99 RS girls and compared to gross motor function. The degree of head growth deceleration correlated to the severity of gross motor disability at 12 years of age.

Cited by 15 publications

References 0 publications

Findings from a multidisciplinary clinical case series of females with Rett syndrome

Findings from a multidisciplinary clinical case series of females with Rett syndrome

Head growth in Rett syndrome

Neuropathology of Rett syndrome

Contact Info

Product

Resources

About