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New study reveals Rett syndrome can strike malesA new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain disorder.
Research
Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor StructureRett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.
Research
Building the repertoire of measures of walking in Rett syndromeThis study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.
Research
Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
Research
NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
Research
The Rett Syndrome Gross Motor Scale–Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett SyndromeThe Rett Syndrome Gross Motor Scale (RSGMS) is an observational measurement, assessing gross motor skills in individuals with Rett syndrome. A Dutch version is lacking. The current study aims to translate and cross-culturally adapt the original RSMGS to Dutch and assess its inter-rater and intra-rater reliability.
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Oral parafunction and bruxism in Rett syndrome and associated factors: An observational studyTo explore patterns of parafunction, and bruxism, and its relationships with genotype and snoring in individuals with Rett syndrome.
Research
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndromeThere were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.
Research
Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: A cohort studyWe investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.
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Parental perspectives on the communication abilities of their daughters with Rett syndromePerspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome