Is the Early Development of Girls with Rett Disorder Really Normal?

Einspieler, Christa; Kerr, Alison; Prechtl, H.F.R.

doi:10.1203/01.pdr.0000155945.94249.0a

Cited by 134 publications

(133 citation statements)

References 22 publications

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“…9,10 A general stagnation of development is followed by the loss of fine and gross motor skills, social interaction and intellectual functioning. A more definitive clinical picture evolves in stages over a number of years, culminating in motor deterioration and ultimate demise.…”

Section: Clinical Synopsismentioning

confidence: 99%

Rett syndrome: new clinical and molecular insights

2006

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Section: Clinical Synopsismentioning

confidence: 99%

Rett syndrome: new clinical and molecular insights

2006

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“…Tongue thrust is typically associated with psychopathology and is considered to be an orofacial muscular imbalance whereby the tongue ''protrudes through the anterior incisors during swallowing, speech production, and while the tongue is at rest'' (Council on children with disabilities, 2006). Tongue thrust has been documented in patients with Dystonia (Schneider et al, 2006), Down's syndrome (Limbrock, Fischer-Brandies, & Avalle, 1991), Rett syndrome (Einspieler, Kerr, & Prechtl, 2005), Tourette's syndrome (Strassnig, Hugo, & Muëller, 2004), Angelman syndrome (Williams et al, 2006) and in children with non-organic failure to thrive (Mathisen, Skuse, Wolke, & Reilly, 1989). Tongue thrust has also been reported in 67-95% of typically developing children aged 5-8 years.…”

Section: Introductionmentioning

confidence: 99%

Slip of the tongue: Implications for evolution and language development

Forrester

2015

Cognition

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a b s t r a c tA prevailing theory regarding the evolution of language implicates a gestural stage prior to the emergence of speech. In support of a transition of human language from a gestural to a vocal system, articulation of the hands and the tongue are underpinned by overlapping left hemisphere dominant neural regions. Behavioral studies demonstrate that human adults perform sympathetic mouth actions in imitative synchrony with manual actions. Additionally, right-handedness for precision manual actions in children has been correlated with the typical development of language, while a lack of hand bias has been associated with psychopathology. It therefore stands to reason that sympathetic mouth actions during fine precision motor action of the hands may be lateralized. We employed a fine-grained behavioral coding paradigm to provide the first investigation of tongue protrusions in typically developing 4-year old children. Tongue protrusions were investigated across a range of cognitive tasks that required varying degrees of manual action: precision motor action, gross motor action and no motor actions. The rate of tongue protrusions was influenced by the motor requirements of the task and tongue protrusions were significantly right-biased for only precision manual motor action (p < .001). From an evolutionary perspective, tongue protrusions can drive new investigations regarding how an early human communication system transitioned from hand to mouth. From a developmental perspective, the present study may serve to reveal patterns of tongue protrusions during the motor development of typically developing children.

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“…Over the last two-three decades the work of several groups of researchers and clinicians, including ourselves, has seen a steadily accumulating body of evidence which challenges the paradigm of normal early development. 9–11,13,15–18,20,37,38 Such studies have also begun to delineate different profiles in early development according to both RTT variant and mutation type. 2,3,39–43 …”

Section: Resultsmentioning

confidence: 99%

“…9–11,13,15–21,37 The prospective approach presented here is entirely novel to the field of studying RTT precursors. From the literature in studying suboptimal development, or development of children with genetic disorders, we know that parents appear to be able to give an accurate estimation of what is happening not only in relation to their child’s general development when asked at the time of ‘happening events’, 46–49 but also in relation to more specific aspects, such as speech-language development.…”

Section: Resultsmentioning

confidence: 99%

Early development in Rett syndrome – the benefits and difficulties of a birth cohort approach

Marschik

Lemcke

Einspieler

et al. 2017

Developmental Neurorehabilitation

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Purposes: Typically, early (pre-diagnostic) development in individuals later diagnosed with Rett syndrome (RTT) has been investigated retrospectively using parent reports, medical records and analysis of home videos. In recent years, prospective research designs have been increasingly applied to the investigation of early development in individuals with late phenotypical onset disorders, for example, autism spectrum disorder. Methods: In this study, data collected by the Danish National Birth Cohort lent itself to prospective exploration of the early development of RTT, in particular early motor-, speech-language, and socio-communicative behaviors, mood, and sleep. Results and Conclusions: Despite limitations, this quasi prospective methodology proved promising. In order to add substantially to the body of knowledge, however, specific questions relating to peculiarites in early development could usefully be added to future cohort studies. As this involves considerable work, it may be more realistic to consider a set of indicators which point to a number of developmental disorders rather than to one.

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Is the Early Development of Girls with Rett Disorder Really Normal?

Cited by 134 publications

References 22 publications

Rett syndrome: new clinical and molecular insights

Rett syndrome: new clinical and molecular insights

Slip of the tongue: Implications for evolution and language development

Early development in Rett syndrome – the benefits and difficulties of a birth cohort approach

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