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

Marschik, Peter B.; Lemcke, Sanne; Einspieler, Christa; Zhang, Dajie; Bölte, Sven; Townend, Gillian S.; Lauritsen, Marlene Briciet

doi:10.1080/17518423.2017.1323970

Cited by 14 publications

(12 citation statements)

References 53 publications

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“…Due to well-discussed limitations as well as benefits of both approaches (e.g., Marschik and Einspieler 2011; Ozonoff et al 2011; Palomo et al 2006), the prospective methods will unlikely fully replace the retrospective ones. Especially when studying rare diseases and disorders such as RTT, mainly caused by de novo mutations of the MECP2 gene, for which obtaining high-risk samples is unrealistic (Marschik et al 2018), retrospective procedures are still of great value.…”

Section: Discussionmentioning

confidence: 99%

Identifying Atypical Development: A Role of Day-Care Workers?

Zhang

Krieber-Tomantschger

Poustka³

et al. 2019

J Autism Dev Disord

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Identifying the early signs of developmental disability is important for ensuring timely diagnosis and early intervention. Day-care workers may be in a prime position to notice potential developmental deviations, but it is unclear if they can accurately recognize subtle early signs of atypical development. Sixty day-care workers examined home-videos of very young children with fragile X syndrome and typically developing children. Results indicated that most day-care workers can distinguish typical and atypical development in general and might therefore have an important role in early identification. Special work experience and advanced pedagogical training appeared to boost day-care workers’ sensitivity to detect atypical features in early development and to provide effective daily surveillance.

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Section: Discussionmentioning

confidence: 99%

Identifying Atypical Development: A Role of Day-Care Workers?

Zhang

Krieber-Tomantschger

Poustka³

et al. 2019

J Autism Dev Disord

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“…For girls with Rett syndrome, early infant studies have revealed atypicalities before the age of two (Kerr & Stephenson, 1986;Bartl-Pokorny et al, 2013) and even in the first months of life (Einspieler et al, 2016), refuting a long-held belief that features of the disorder appear only after a period of typical early development. Findings such as these have decreased the mean age of diagnosis for classic Rett syndrome to around 2 ½ years old, although there is a need for additional study to acquire a comprehensive description of the syndrome's early development (Marschik et al, 2018).…”

Section: Early Detection Of Developmental Disordersmentioning

confidence: 99%

The Need for Increased Study of Infants and Toddlers Later Diagnosed With Childhood Apraxia of Speech

Overby

Highman

2021

Perspect ASHA SIGs

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Purpose This article examines the need for increased research into the prelinguistic trajectory of childhood apraxia of speech (CAS). We discuss the significant gains made in the early identification of disorders such as autism spectrum disorder, fragile X syndrome, and Rett syndrome that have resulted through the study of early (i.e., prelinguistic) developmental behaviors of infants and toddlers at risk for these disorders. We suggest that notable gains in understanding CAS could be made by increasing investigative focus on infants and toddlers later diagnosed with CAS or who are at risk for it (i.e., have an older sibling diagnosed with the disorder). Conclusions Currently, there are few studies to guide clinical decision making for infants and toddlers who may have CAS. To address this gap, we present a call to action with recommendations for researchers and clinicians. We recommend more retrospective investigative designs be conducted, inclusive of retrospective parent questionnaires and retrospective home video analysis, as well as prospective longitudinal studies of at-risk infants. We suggest that studies not be limited to exploring an affected infant's vocal output, but that efforts be made to acquire a broad view of an affected infant's early developmental trajectory (e.g., social skills, eye gaze, and imitative skills). A more comprehensive understanding of CAS will guide clinicians not only in identification of the disorder but will inform treatment decisions as well.

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“…The variation in RTT presentation is associated with various factors, including: the nature of MECP2 mutation present [17][18][19][20], the degree of X-chromosome inactivation [21,22], the individual's genetic background; and the site and location of MeCP2 expression in the individual's brain [3]. Additional variability comes from the reports of demographic analysis from specific populations in several countries such as USA and Canada [23][24][25][26][27][28]; Italy [4,29]; Denmark [30][31][32]; Australia [5,[33][34][35][36][37][38][39]; UK [36,[40][41][42]; the Netherlands and Belgium [43,44]; Brazil [45]; Poland [46]; Sweden [47]; and an international analysis [48]. Due to this degree of variability in presentation, RTT is commonly misdiagnosed and often difficult to treat effectively, especially when considering differences in the genetic basis of the condition.…”

Section: Introductionmentioning

confidence: 99%

Rett Syndrome in Ireland: A demographic study

Zade

Campbell

Bach

et al. 2023

Preprint

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Rett syndrome (RTT) is a rare neuropsychiatric condition associated to mutations in the gene coding for the methyl-CpG- binding protein 2 (MECP2). It is primarily observed in girls and affects individuals globally. The understanding of the neurobiology of RTT and patient management has been improved by studies that describe the demographic and clinical presentation of patients with RTT. However, in Ireland, there is a scarcity of data regarding patients with RTT, which impedes the ability to fully characterize the Irish RTT population. Together with the Rett syndrome association of Ireland (RSAI), we prepared a questionnaire to determine the characteristics of RTT patients in Ireland. Twenty families participated to the study to date, providing information about demographics, genetics, familial history, clinical features, and regression. The main finding of this study is the limited number of genetic tests conducted to support the clinical diagnosis of RTT. The results shows that Irish patients with RTT have comparable presentation with respect to patients in other countries, however, they had a better response to anti-epileptic drugs and fewer skeletal deformities were reported. Nonetheless, seizures, involuntary movements and regression were more frequently observed in Irish patients. Despite the limited sample size, this study is the first to characterise the RTT population in Ireland and highlights the importance of genetic testing for patients with RTT in order to sharpen the characterization of the phenotype and increase the visibility of Irish patients in the international RTT community.

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

Cited by 14 publications

References 53 publications

Identifying Atypical Development: A Role of Day-Care Workers?

Identifying Atypical Development: A Role of Day-Care Workers?

The Need for Increased Study of Infants and Toddlers Later Diagnosed With Childhood Apraxia of Speech

Rett Syndrome in Ireland: A demographic study

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