Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence

Downs, Jenny; Bergman, Anke; Carter, Philippa; Anderson, Alison; Palmer, Greta M; Roye, David P.; Bosse, Harold J. P. van; Bebbington, Ami; Larsson, Eva Lena; Smith, Brian G.; Baikie, Gordon; Fyfe, Sue; Leonard, Helen

doi:10.1097/brs.0b013e3181a95ca4

Cited by 68 publications

(66 citation statements)

References 56 publications

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“…The design of gross motor opportunities for exercise and activities at all levels of function should promote a proactive lifestyle aiming to protect as far as possible against the development of co-morbidities such as scoliosis. 22 Consistent with the early gross motor impairment, we also noted that a much higher proportion of those with large deletions never developed or completely lost hand function compared with those with other mutations, where a higher proportion had conserved or partially conserved hand function. One characteristic feature of the regression period in Rett syndrome is the development of hand stereotypies.…”

Section: Discussionsupporting

confidence: 80%

The phenotype associated with a large deletion on MECP2

et al. 2012

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Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome. This study describes the phenotype of those with a large deletion and compares with those with other pathogenic MECP2 mutations. Individuals were ascertained from the Australian Rett Syndrome and InterRett databases with data sourced from family and clinician questionnaires, and two case studies were constructed from the longitudinal Australian data. Regression and survival analysis were used to compare severity and age of onset of symptoms in those with and without a large deletion. Data were available for 974 individuals including 51 with a large deletion and ages ranged from 1 year 4 months to 49 years (median 9 years). Those with a large deletion were more severely affected than those with other mutation types. Specifically, individuals with large deletions were less likely to have learned to walk (OR 0.42, 95% CI: 0.22-0.79, P¼0.007) and to be currently walking (OR 0.53, 95% CI: 0.26-1.10, P¼0.089), and were at higher odds of being in the most severe category of gross motor function (OR 1.84, 95% CI: 0.98-3.48, P¼0.057) and epilepsy (OR 2.72, 95% CI: 1.38-5.37, P¼0.004). They also developed epilepsy, scoliosis, hand stereotypies and abnormal breathing patterns at an earlier age. We have described the disorder profile associated with a large deletion from the largest sample to date and have found that the phenotype is severe with motor skills particularly affected.

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Section: Discussionsupporting

confidence: 80%

The phenotype associated with a large deletion on MECP2

et al. 2012

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“…There was consensus that scoliosis should be regularly monitored and spinal fusion considered when the Cobb angle is greater than 50 degrees. 163 In a subsequent study, spinal fusion was associated with improved survival and, in those with early onset scoliosis, a moderate reduction in frequency of severe respiratory tract infections. 164 This is important for clinicians and families when considering the advantages or otherwise of spinal fusion in individual girls/circumstances.…”

Section: Scoliosismentioning

confidence: 94%

“…Often in the absence of a good evidence base these depended on expert opinion garnered in a collegial fashion through the Delphi process. 154,163,183 The last fifty years and into the future In terms of the clinical presentation, it seems clear that many components of the original model proposed by Hagberg now ring true. Life expectancy has increased dramatically partly because of changing attitudes and allocation of resources towards the health care of those with disability.…”

Section: Role Of Advocacy Groupsmentioning

confidence: 99%

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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“…Prze bieg ze spo łu jest ró żnie na si lo ny u po szcze gól nych pa cjen tek. Ty po wym i czę sto wystę pu ją cym pro ble mem zdro wot nym u dziew cząt z RTT są sko lio zy [8][9][10][11][12]. Ich po wsta nie i roz wój może być przy czy ną do dat ko wych za bu rzeń po gar sza ją -cych ogól ny stan dziew cząt.…”

Section: Wstępunclassified

“…The course of Rett syndrome varies in severity between affected individuals. Girls with RTT usually suffer from scolio ses [8][9][10][11][12]. Their development and progression may result in additional health problems that contri bute to further deterioration of their overall health.…”

Section: Rett Syndrome (Rtt)mentioning

confidence: 99%

Analysis of the Structure of the Torso in the Frontal Plane in Girls with Rett Syndrome Taking into Account Their Functional Status

Małachowska-Sobieska

Barczyk-Pawelec

Marcmiszyn³

et al. 2016

Ortop Traumatol Rehabil

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STRESZCZENIEWstęp. Ze spół Ret ta jest rzad kim za bu rze niem roz wo jo wym o pod ło żu ge ne tycz nym, w któ rym jed nym z wie lu po wi kłań jest sko lio za. Ce lem pra cy by ła oce na ukształ to wa nia tu ło wia w płasz czyź nie czo ło wej w RTT. Za ło żo no, że asy me tria ukształ -to wa nia tu ło wia w płasz czyź nie czo ło wej jest mniej sza u dziew cząt, któ re są w sta nie utrzy mać pio no wą po sta wę cia ła.Ma te riał i me to dy. Ba da nia mi ob ję to 14 dziew cząt ze zdia gno zo wa nym RTT, w wie ku od 3 do 15 ro ku ży cia. Ze brany ma te riał po dzie lo no na dwie gru py. Gru pę 1 sta no wi ło 5 dziew cząt, któ re nie po tra fi ły przy jąć po zy cji pio no wej. Grupę 2, 9 dziew cząt, któ re po tra fi ły przy jąć po zy cję pio no wą. Ma sę i wy so kość cia ła zmie rzo no wa gą elek tro nicz ną oraz wzro sto mie rzem. Ob li czo no wskaź nik BMI (Bo dy Mass In dex). Oce ny ukształ to wa nia tu ło wia w płasz czyź nie czo ło wej do ko na no me to dą fo to gra me trii. Uzy ska ne wy ni ki ba dań prze ana li zo wa no sta ty stycz nie ob li cza jąc śred nią aryt me tycz ną (x), od chy le nie stan dar do we (sd), współ czyn nik zmien no ści (v%) oraz istot ność ró żnic (p).Wy ni ki. W obu ba da nych gru pach naj czę ściej wy stę po wa ły asy me trie le wo stron ne. Wszyst kie war to ści ką to we oraz li nio we by ły wy ższe w 1 gru pie ba da nych. U 80% ba da nych z gru py 1 wy ka za no znacz ną asy me trię ką ta na chy le nia miedni cy (KNM). Brak istot nych sta ty stycz nie ró żnic we wszyst kich ba da nych pa ra me trach gru py 1 i 2.Wnio ski. 1. Prze pro wa dzo ne ba da nia wy ka za ły czę ste wy stę po wa nie asy me trii w ob rę bie tu ło wia w płasz czyź nie czoło wej w RTT. 2. Asy me tria tu ło wia jest wy raź niej za zna czo na u dziew cząt w gor szym sta nie funk cjo nal nym. 3. Ana liza BMI wska za ła, że ba da ne dziew czę ta cha rak te ry zo wa ły się nie pra wi dło wym sta nem odży wie nia.

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Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence

Cited by 68 publications

References 56 publications

The phenotype associated with a large deletion on MECP2

The phenotype associated with a large deletion on MECP2

Clinical and biological progress over 50 years in Rett syndrome

Analysis of the Structure of the Torso in the Frontal Plane in Girls with Rett Syndrome Taking into Account Their Functional Status

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