Results 71 to 80 of about 3,757,153 (283)
International Journal of Environmental Research and Public Health, 2020 Rare diseases face serious sustainability challenges regarding the distribution of resources geared at health and social needs. Our aim was to describe the barriers experienced by parents of children with Rett Syndrome for accessing care resources.
J. Güeita-Rodríguez +5 more
semanticscholar +1 more source
Systematic Review of Females With Intellectual Disability and MECP2 Duplication
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik +10 more
wiley +1 more source
Development of trofinetide for the treatment of Rett syndrome: from bench to bedside
Frontiers in PharmacologyRett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the MECP2 gene that encodes methyl-CpG-binding protein 2 (MeCP2), a DNA-binding protein with roles in epigenetic regulation of gene expression.
Melissa Kennedy +11 more
doaj +1 more source
Rehabilitation interventions in Rett syndrome: a scoping review
Developmental Medicine & Child Neurology, 2020 To summarize existing interventions and their outcomes in Rett syndrome (RTT) rehabilitation and identify gaps in the literature.
J. Lim +3 more
semanticscholar +1 more source
Pediatric Neurology Briefs, 1987 The sleep and respiratory patterns associated with this disorder have been studied in 11 females aged 2 through 15 years at the Methodist Hospital, Houston, Tx.
openaire +4 more sources
Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha +6 more
wiley +1 more source
Journal of Neurodevelopmental DisordersBackground With the advent of the first targeted therapy for Rett Syndrome (RTT), a comprehensive assessment of the journey of RTT is needed to elucidate on present unmet needs in this population.
Damian May +10 more
doaj +1 more source
Deficits in skilled motor and auditory learning in a rat model of Rett syndrome
Journal of Neurodevelopmental Disorders, 2020 Background Rett syndrome is an X-linked neurodevelopmental disorder caused by a mutation in the gene MECP2. Individuals with Rett syndrome display developmental regression at an early age, and develop a range of motor, auditory, cognitive, and social ...
Katherine S. Adcock +6 more
doaj +1 more source
Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome
Italian Journal of Pediatrics, 2022 Background Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking.
Sergio Ghirardo +10 more
doaj +1 more source
Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud +6 more
wiley +1 more source