Rett syndrome (RTT) is an x-linked neurodevelopmental disease that primarily affects females, with an incidence between 1:10,000 and 1:15000 [ 1 ]. RTT develops due to a gene mutation on the long arm (q) of the X chromosome. Methyl CpG-binding …

Rett syndrome is a genetic neurodevelopmental disorder that predominantly affects females, with a prevalence ranging from 1:10,000 to 1:23,000 female live births [ 1 ]. A recent systematic review and meta-analysis by Petriti et al. (2023) reported …

Rett syndrome, originally described in the 1960’s by Andreas Rett, is an X-linked rare neurodevelopmental condition with specific clinical features [ 1 ]. It affects brain function and development, with global prevalence ranging from 5–10 cases …

Trofinetide is the first US Food and Drug Administration-approved treatment for Rett syndrome (RTT), a rare, genetic neurodevelopmental disorder. In almost all cases, RTT is caused by loss-of-function mutations in the gene encoding …

Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder mainly affecting female individuals. Trofinetide was recently approved as the first treatment for RTT, largely on the basis of results from the phase 3 LAVENDER trial, in which …

Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are rare, single-gene disorders that can present with autism, epilepsy and intellectual disability [ 1 – 3 ]. RTT is a progressive, developmental impairment disorder that almost exclusively …

Cerebral palsy (CP) is a motor impairment caused by damage to the developing brain. Preterm and very low birth weight babies have the greatest risk of developing CP. Other common causes of CP include intrauterine growth restriction and infection …

Rett Syndrome (RTT) is a severe, rare, and progressive developmental disorder with intellectual disability [ 1 ]. Mutations of the methyl-CpG binding protein 2 (MECP2) gene on the X chromosome are the most prevalent cause of classical RTT cases [ 2 …]. Characteristic symptoms of RTT include partial or complete loss of acquired spoken language and motor skills, repetitive hand movements, breathing irregularities and seizures. RTT patients may also suffer from scoliosis, wasting, dystonia and bradykinesia. Many patients are wheelchair and/or gastrostomy-tube dependent in their motor deterioration stage [

Rett syndrome (OMIM # 312750) is a neurodevelopmental disorder that affects 1 in 10,000 people, mostly girls. Usually caused by de novo mutations in the X-linked MECP2 gene, it is a clinically and molecularly complex disorder [ 1 ]. It is …

Rett syndrome (RS) is a neurodevelopmental disorder associated with mutations in the X-linked gene MECP2 [ 1 ]. This disease is characterized by a variety of physiological, motor, and cognitive deficits that usually follow relatively typical …

Rett syndrome (RTT) is a severe neurodevelopmental disorder (NDD) that predominantly, but not exclusively [ 1 ], affects girls and women and is characterized by regression with loss of acquired spoken language and volitional hand use, disrupted or …

Rett syndrome (RTT) is a severe neurodevelopmental disorder that almost exclusively affects females, with an estimated incidence of 1 in 10,000 females by the age of 12 in the United States (US) [ 1 , 2 ]. RTT is characterized by normal development …

In current common practice, a mutation in a proband is considered as “de novo” if the mutant alleles were detected in the peripheral blood DNA of the proband but neither in that of the parents. Theoretically, de novo mutations (DNMs) are mutations …

Rett syndrome (RTT) is a rare, severe neurodevelopmental disorder that affects almost exclusively females. The syndrome was first described in 1966 by Andreas Rett in the German medical literature [ 1 ]. However, RTT was not internationally …

Rett syndrome (RTT) is a neurodevelopmental disorder that is characterized by developmental regression, loss of communicative ability, stereotyped hand wringing, cognitive impairment, and central apneas, among many other symptoms. RTT is caused by …

Rett syndrome (RS) (OMIM #312750) is a severe X-linked dominant neurodevelopmental disorder, affecting one baby every 10.000 live-born, almost exclusively female. The congenital variant of Rett syndrome (CRS) accounts for just 5–7% of all cases …

Rett syndrome (RTT) is a neurodevelopmental disorder predominantly linked to MECP2 gene mutations, affecting one female birth in 10,000/15,000 [ 1 ]. Scoliosis is an associated condition of RTT, with a high clinical impact [ 2 ]. Complications …