Early Determinants of Fractures in Rett Syndrome

Downs, Jenny; Bebbington, Ami; Woodhead, Helen; Jacoby, Peter; Jian, Le; Jefferson, Amanda; Leonard, Helen

doi:10.1542/peds.2007-1641

Cited by 68 publications

(93 citation statements)

References 39 publications

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“…Vitamin D status) environmental and genetic risk factors. Risk factors for fractures such as genotype 173 and use of certain anti-epileptic medications 181 did not always correlate exactly with those for low bone density, which also varied by outcome parameter and body site. For example, right femoral neck areal bone mineral density was particularly impaired with increasing age and lack of mobility in comparison to other parameters.…”

Section: Bone Healthmentioning

confidence: 87%

“…Susceptibility to osteopenia and fractures was first highlighted through US 171 and Australian research. 172,173 Fracture risk was four times that of the general female population, and specifically increased in those with p.Arg168* and p.Arg270*mutations (see Fig 2). 173 Several Danish, 174,175 US 176,177 and further Australian studies 178,179 have also investigated which particular bone parameters were most adversely affected and their potential nutritional, 180 (e.g.…”

Section: Bone Healthmentioning

confidence: 91%

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Clinical and biological progress over 50 years in Rett syndrome

2016

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It is fifty years since Andreas Rett first described Rett syndrome, a disorder now known to be caused by a mutation in the MECP2 gene. A compelling blend of astute clinical observations, clinical and laboratory research has already built our understanding of Rett syndrome and its biological underpinnings. We document the contributions of the early pioneers and describe the evolution of knowledge in terms of diagnostic criteria, clinical variation and the interplay with other Rett-related disorders. We provide a synthesis of what is known about the neurobiology of MeCP2, the lessons from both cell and animal models and how they may inform future clinical trials. With a focus on the core criteria, we examine the relationships that have been demonstrated between genotype and clinical severity. We review what is known about the many comorbidities that occur in this disorder and how genotype may also modify their presentation. We acknowledge the important drivers that are accelerating this research program including the roles of research infrastructure, international collaboration and advocacy groups. Finally, we conclude by highlighting the major milestones since 1966 and what they mean for the day-to-day lives of those with Rett syndrome and their families. Key pointsThere has been an explosion of knowledge about Rett syndrome in relation to its genetic basis, clinical characteristics and their relationships during the fifty years since the disorder was first described by Andreas Rett.Whilst initially the diagnosis of Rett syndrome was based only on clinical criteria, identifying its genetic cause has had a major positive impact on how clinicians diagnose the disorder but also provides new challenges as we enter the era of next generation sequencing.

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Section: Bone Healthmentioning

confidence: 87%

Section: Bone Healthmentioning

confidence: 91%

Clinical and biological progress over 50 years in Rett syndrome

2016

Self Cite

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“…We also found that a diagnosis of epilepsy increases fracture risk, even after adjusting for genotype 4. In the present study, we have investigated the association between fracture risk and commonly used AEDs in the same population base, taking into account duration of use, mobility and MECP2 mutation type.…”

Section: Introductionmentioning

confidence: 92%

“…Reduced bone mineral density (BMD)2 3 and a fracture rate nearly four times that of the general population4 have been reported in this condition with the most commonly fractured bone being the femur. The principal genetic cause of RTT is a spectrum of loss-of-function mutations within the X linked MECP2 gene 5.…”

Section: Introductionmentioning

confidence: 99%

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Valproate and risk of fracture in Rett syndrome

Leonard

Downs

Jian

et al. 2010

Archives of Disease in Childhood

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Primary care of a child with Rett syndrome

Briggs¹

2014

Journal of the American Association of Nurse Practitioners

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Purpose To discuss the history, incidence, pathophysiology, diagnostic criteria, disease staging, clinical presentation and physical exam findings, and role of the primary care provider (PCP) as they pertain to care for a child with Rett syndrome (RS). Data sources Review of published literature on and diagnostic criteria of RS. Conclusions RS is a devastating X‐linked neurodevelopmental disorder that affects females and a small percentage of males. RS is characterized by stereotypic wringing hand movements, social withdrawal, communication dysfunction, cognitive impairment, respiratory dysfunction, and failing locomotion. Diagnosis is generally made clinically despite available genetic testing. Advances in research have been beneficial; however, the pathophysiology of RS has proven to be elusive. RS is a complex disease that involves multiple organ systems. Implications for practice PCPs need to be aware of how to manage RS patients if they present to the primary care office, and need to be prepared to diagnose RS early, provide appropriate interventions and referrals, understand the challenges, and understand the goal of treatment. They also should be able to provide continuity of care, provide anticipatory guidance, and engage in shared decision with families and patients.

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Early Determinants of Fractures in Rett Syndrome

Cited by 68 publications

References 39 publications

Clinical and biological progress over 50 years in Rett syndrome

Clinical and biological progress over 50 years in Rett syndrome

Valproate and risk of fracture in Rett syndrome

Primary care of a child with Rett syndrome

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