Consensus guidelines on managing Rett syndrome across the lifespan

Fu, Changlin; Armstrong, Dallas; Marsh, Eric D.; Lieberman, David N.; Motil, Kathleen J.; Witt, Rochelle; Standridge, Shannon; Nues, Paige; Lane, Jane; Dinkel, Tristen; Coenraads, Monica; Hehn, Jana von; Jones, Mary; Hale, Katie; Suter, Bernhard; Glaze, Daniel G.; Neul, Jeffrey L.; Percy, Alan K.; Benke, Timothy A.

doi:10.1136/bmjpo-2020-000717

Cited by 60 publications

(60 citation statements)

References 117 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Despite these efforts, interventions to reduce stereotypic hand movements have not been systematised. In approaches for the management and treatment of Rett syndrome, Fu et al (2020) reported that occupational or physical therapists may prescribe elbow or hand splints to prevent skin breakdown from mouthing. Therefore, the use of a splint is considered to be the closest to a standard intervention for stereotypic hand movements in children with Rett syndrome.…”

Section: Discussionmentioning

confidence: 99%

Comparison of the presence and absence of an intervention to reduce hand stereotypies in individuals with Rett syndrome

Hirano

Goto

Shoji

et al. 2021

Research Intellect Disabil

View full text Add to dashboard Cite

Background We investigated how many individuals with Rett syndrome were undergoing interventions to reduce stereotypic hand movements and the factors determining the presence or absence of an intervention. Method A questionnaire was sent to 194 families. Each survey item was compared between the intervention and non‐intervention groups according to the presence or absence of interventions to reduce hand stereotypies. Results Information was acquired from 72 cases; 72.1% of individuals had received an intervention to reduce stereotypies at some point in their lives. An upper limb splint was the most common intervention. Age, locomotor and reaching function, diagnostic age, frequency and type of stereotypy, joint contractures and stereotypy‐associated problems separated the presence or absence of a current or past intervention. Conclusions Interventions for stereotypy‐associated problems are important and there are several variables related to whether an intervention is received.

show abstract

Section: Discussionmentioning

confidence: 99%

Comparison of the presence and absence of an intervention to reduce hand stereotypies in individuals with Rett syndrome

Hirano

Goto

Shoji

et al. 2021

Research Intellect Disabil

View full text Add to dashboard Cite

show abstract

“…Consensus guidelines for the approach to screening and management of scoliosis and osteopenia are not available for CDD however a consensus of routine management for optimal bone health in Rett syndrome has been developed and is likely relevant to individuals with CDD until higher level evidence becomes available (25,(67)(68)(69).…”

Section: Surveymentioning

confidence: 99%

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

et al. 2022

View full text Add to dashboard Cite

CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay. During infancy and childhood, individuals with CDD suffer impairments affecting cognitive, motor, visual, sleep, gastrointestinal and other functions. Here we present the recommendations of international healthcare professionals, experienced in CDD management, to address the multisystem and holistic needs of these individuals. Using a Delphi method, an anonymous survey was administered electronically to an international and multidisciplinary panel of expert clinicians and researchers. To provide summary recommendations, consensus was set, a priori, as >70% agreement for responses. In the absence of large, population-based studies to provide definitive evidence for treatment, we propose recommendations for clinical management, influenced by this proposed threshold for consensus. We believe these recommendations will help standardize, guide and improve the medical care received by individuals with CDD.

show abstract

“…In the assessment of a patient with RTT, sleep must be considered among the areas of evaluation and its characteristics must be investigated. Also laboratory investigations (ferritin, transferrin, serum iron) should be considered in case of disturbed sleep or restless leg syndrome ( 86 ).…”

Section: Sleep Disorders In Rett Syndrome and Rett-related Syndromementioning

confidence: 99%

Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review

et al. 2022

View full text Add to dashboard Cite

Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs primarily in females, with a ratio of 1:10.000. De novo mutations in the Methyl-CpG Binding protein 2 (MECP2) gene on the long arm of X chromosome are responsible for more than 95% cases of classical Rett. In the remaining cases (atypical Rett), other genes are involved such as the cyclin-dependent kinase-like 5 (CDKL5) and the forkhead box G1 (FOXG1). Duplications of the MECP2 locus cause MECP2 duplication syndrome (MDS) which concerns about 1% of male patients with intellectual disability. Sleep disorders are common in individuals with intellectual disability, while the prevalence in children is between 16 and 42%. Over 80% of individuals affected by RTT show sleep problems, with a higher prevalence in the first 7 years of life and some degree of variability in correlation to age and genotype. Abnormalities in circadian rhythm and loss of glutamate homeostasis play a key role in the development of these disorders. Sleep disorders, epilepsy, gastrointestinal problems characterize CDKL5 Deficiency Disorder (CDD). Sleep impairment is an area of overlap between RTT and MECP2 duplication syndrome along with epilepsy, regression and others. Sleep dysfunction and epilepsy are deeply linked. Sleep deprivation could be an aggravating factor of epilepsy and anti-comitial therapy could interfere in sleep structure. Epilepsy prevalence in atypical Rett syndrome with severe clinical phenotype is higher than in classical Rett syndrome. However, RTT present a significant lifetime risk of epilepsy too. Sleep disturbances impact on child's development and patients' families and the evidence for its management is still limited. The aim of this review is to analyze pathophysiology, clinical features, the impact on other comorbidities and the management of sleep disorders in Rett syndrome and Rett-related syndrome.

show abstract

Consensus guidelines on managing Rett syndrome across the lifespan

Cited by 60 publications

References 117 publications

Comparison of the presence and absence of an intervention to reduce hand stereotypies in individuals with Rett syndrome

Comparison of the presence and absence of an intervention to reduce hand stereotypies in individuals with Rett syndrome

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review

Contact Info

Product

Resources

About