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        13-24 of 493 results for 'CDKL5''

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        Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

        Epilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency ...

        Research

        Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

        CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.  ...

        Research

        Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency Disorder

        Helen Jenny Peter Leonard Downs Jacoby HM JA PJ MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Program Head, Development and Disability Biostatistician +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au ...

        Research

        Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial

        CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes.  ...

        Research

        Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

        CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder. ...

        Research

        A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder

        This study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder ...

        Research

        Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

        There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome. ...

        Research

        Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

        This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database. ...

        Research

        The Lived Experience of Parents’ Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child

        CDKL5 deficiency disorder (CDD), a severe developmental and epileptic encephalopathy, is being diagnosed earlier with improved access to genetic testing, but this may also have unanticipated impacts on parents’ experience receiving the diagnosis. This study explores the lived experience of parents receiving a diagnosis of CDD for their child using mixed methods. ...

        Research

        Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder

        The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up. ...

        Research

        Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

        These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder ...

        Research

        Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder

        In view of its side effect profile, ketogenic diet (KD) administration should be supervised by a pediatric neurologist and specialist dietician. ...

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