Rett syndrome was identified by Dr.Andreas Rett, an Austrian physician in 1966. It is a neurological disease characterized by arrest of brain development caused by X chromosome mutation that commonly affect girls. The condition is a combination of orthopedics, neurological and cardio respiratory symptoms and most of the people die because respiratory dysfunction. Though medications are used for...

Rett syndrome is a neurodevelopmental disorder, which occurs in about 1:15,000 females and presents with neurologic and communication defects. It is transmitted as an X-linked dominant linked to mutations of the methyl-CpG-binding protein (MeCP2), a gene transcription suppressor, but its definitive pathogenesis is unknown thus hindering development of effective treatments. Almost half of childr...

To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian-German speakers listen to audio recordings of vocalizations from typically developing girls and girls with Rett syndrome. The audio recordings were rated as (a) inconspicuous, (b) conspicuous or (c) not able to decide between (a) and (b). The re...

We screened a cohort of 5 male and 20 female patients with a Rett spectrum disorder for mutations in the coding region of FOXG1, previously shown to cause the congenital variant of Rett syndrome. Two de novo mutations were identified. The first was a novel missense mutation, p.Ala193Thr (c.577G>A), in a male patient with congenital Rett syndrome, and the second was the p.Glu154GlyfsX301 (c.460d...

The MECP2 gene is responsible for 80-85% of typical cases of Rett syndrome with deleterious mutations affecting exons 3 and 4. Recently, an alternate transcript including exon 1 was discovered with a new protein isoform (MeCP2_e1) much more abundant in brain. We screened exon 1 of MECP2 for mutations and for large rearrangements in a panel of 212 typical cases of Rett syndrome and one family ca...

Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this population. The current study investigated the validity and reliability of the Rett Syndrome Gross Motor Scale. Video data showing gross motor ...

Although Rett syndrome was initially described in 1966, it was virtually unknown in the broader medical community until 1983. Since then, major advances have taken place, including the implication of the MECP2 gene in the majority of cases of Rett syndrome, as well as the development of mouse models recapitulating the core characteristics of the disorder. Progress also has been made in understa...

Rett syndrome is a recently discovered, progressive neurological disorder that occurs exclusively in females early in life. Females with this rare and often misdiagnosed clinical entity have unusual but distinctive oral/digital habits. Dentists aware of Rett syndrome and its distinct manifestations will be able to aid in early diagnosis and treatment of those afflicted. A case report of a 4-yea...

Mecp2 is a transcriptional repressor protein that is mutated in Rett syndrome, a neurodevelopmental disorder that is the second most common cause of mental retardation in women. It has been shown that the loss of the Mecp2 protein in Rett syndrome cells alters the transcriptional silencing of coding genes and microRNAs. Herein, we have studied the impact of Mecp2 impairment in a Rett syndrome m...

Due to the genetic and clinical heterogeneity of Rett syndrome, patients with nonclassic phenotypes are classified as an atypical Rett syndrome, that is, preserved speech variant, early seizure variant, and congenital variant. Respectively, MECP2, CDKL5, and FOXG1 have been found to be the causative genes, but FOXG1 variants are the rarest and least studied. We performed mutational analyses for...