The Incidence of Rett Syndrome in France

Bienvenu, Thierry; Philippe, Christophe; Roux, Nicolas de; Raynaud, Martine; Bonnefond, Jean Paul; Pasquier, Laurent; Lesca, Gaëtan; Mancini, J.; Jonveaux, Philippe; Moncla, Anne; Feingold, Josué; Chelly, Jamel; Villard, Laurent

doi:10.1016/j.pediatrneurol.2005.10.013

Cited by 47 publications

(50 citation statements)

References 18 publications

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“…Several studies showed a mild-to-moderate increase in RTT incidence over previous decades [14,23], which was also observed in our study. Such tendency could be explained by advances in clinical and molecular diagnosis of RTT.…”

Section: Discussionsupporting

confidence: 90%

“…The results of our investigation produced an RTT incidence rate of 0.59/10,000 live-birth females, which corresponds with values registered in other populations [13,14,20]. The fluctuation of annual incidence of RTT observed in our study (0.13-2.85/10,000) was higher than in the population-based study conducted in France (0.43-0.71/10,000), although average incidence was almost equal (0.58/10,000 and 0.59/10,000 female live births) [14]. The possible explanation of this finding might reflect the higher number of cases in the study performed in France (n = 424).…”

Section: Discussionsupporting

confidence: 89%

“…In the following years, epidemiological studies in different parts of the world have shown that the prevalence of RTT ranged from 0.22/10,000 girls aged 6-14 in the Fukui region of Japan to 2.23/10,000 females younger than 18 years in Norway [6,7,8,9,10,11]. The largest epidemiological studies of RTT up to date came from Texas, Australia and France [12,13,14]. Furthermore, the prevalence of RTT in Texas was estimated at 0.44/10,000 among girls 2-18 of age, with significant predominance among the white race [12], while in Australia the prevalence was 0.88/10,000 girls 5-18 years of age [13].…”

Section: Introductionmentioning

confidence: 99%

“…Furthermore, the prevalence of RTT in Texas was estimated at 0.44/10,000 among girls 2-18 of age, with significant predominance among the white race [12], while in Australia the prevalence was 0.88/10,000 girls 5-18 years of age [13]. Population-based French study included only patients with confirmed mutation in MECP2 gene [14]. Incidence in France ranged from 0.43/10,000 in 1990 to 0.71/10,000 in 1997, while prevalence was 0.58/10,000 girls 4-15 years of age [14].…”

Section: Introductionmentioning

confidence: 99%

“…Population-based French study included only patients with confirmed mutation in MECP2 gene [14]. Incidence in France ranged from 0.43/10,000 in 1990 to 0.71/10,000 in 1997, while prevalence was 0.58/10,000 girls 4-15 years of age [14]. The highest worldwide prevalence of RTT syndrome has been reported in Norway: in the Rogaland region the prevalence was estimated at 3.77/10,000 girls [11].…”

Section: Introductionmentioning

confidence: 99%

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Epidemiology of Rett Syndrome in Serbia: Prevalence, Incidence and Survival

Sarajlija

Kisić-Tepavčević²,

Nikolic³

et al. 2015

Neuroepidemiology

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Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder that represents the second most common cause of mental retardation in females. However, incidence and prevalence of RTT are scarcely reported. Methods: A retrospective study included all patients with RTT diagnosed between 1981 and 2012 in Serbia. Estimation of incidence and prevalence was calculated on the basis of vital statistics reported by Statistical Office of Republic of Serbia. Results: From 1981 to 2012, RTT hasbeen diagnosed in 102 girls in Serbia. Incidence of RTT in Serbia is estimated at 0.586:10,000 female live births. We estimated the prevalence of RTT in population of females younger than 19 years at 1:8,439. Death occurred in 19 patients (18.63%), with pneumonia as the most common cause. The lethal outcome by the age of 12 years could be expected for 11% of patients. The mean age at diagnosis was 3.5 years and we have confirmed a significant trend towards earlier dianosis during studied period. Conclusions: Rett syndrome incidence in Serbia is in accordance with reports from other countries. Serbian RTT patients have increased risk for early death when compared to patients in more developed countries, most commonly due to pneumonia. There was significant trend towards early diagnosis of RTT in Serbia over recent decades.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 89%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Epidemiology of Rett Syndrome in Serbia: Prevalence, Incidence and Survival

Sarajlija

Kisić-Tepavčević²,

Nikolic³

et al. 2015

Neuroepidemiology

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Variation in novel exons (RACEfrags) of theMECP2gene in Rett syndrome patients and controls

Kapranov¹,

Bartoloni

Reymond

et al. 2009

Hum. Mutat.

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The study of transcription using genomic tiling arrays has lead to the identification of numerous additional exons. One example is the MECP2 gene on the X chromosome; using 5’RACE and RT-PCR in human tissues and cell lines, we have found more than 70 novel exons (RACEfrags) connecting to at least one annotated exon.. We sequenced all MECP2-connected exons and flanking sequences in 3 groups: 46 patients with the Rett syndrome and without mutations in the currently annotated exons of the MECP2 and CDKL5 genes; 32 patients with the Rett syndrome and identified mutations in the MECP2 gene; 100 control individuals from the same geoethnic group. Approximately 13kb were sequenced per sample, (2.4Mb of DNA resequencing). A total of 75 individuals had novel rare variants (mostly private variants) but no statistically significant difference was found among the 3 groups. These results suggest that variants in the newly discovered exons may not contribute to Rett syndrome. Interestingly however, there are about twice more variants in the novel exons than in the flanking sequences (44 vs. 21 for approximately 1.3 Mb sequenced for each class of sequences, p = 0.0025). Thus the evolutionary forces that shape these novel exons may be different than those of neighboring sequences.

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The Role of Prenatal, Obstetric and Neonatal Factors in the Development of Autism

Dodds

Fell

Shea

et al. 2010

J Autism Dev Disord

240

224

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We conducted a linked database cohort study of infants born between 1990 and 2002 in Nova Scotia, Canada. Diagnoses of autism were identified from administrative databases with relevant diagnostic information to 2005. A factor representing genetic susceptibility was defined as having an affected sibling or a mother with a history of a psychiatric or neurologic condition. Among 129,733 children, there were 924 children with an autism diagnosis. The results suggest that among those with low genetic susceptibility, some maternal and obstetric factors may have an independent role in autism etiology whereas among genetically susceptible children, these factors appear to play a lesser role. The role of pre-pregnancy obesity and excessive weight gain during pregnancy on autism risk require further investigation.

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The Incidence of Rett Syndrome in France

Cited by 47 publications

References 18 publications

Epidemiology of Rett Syndrome in Serbia: Prevalence, Incidence and Survival

Epidemiology of Rett Syndrome in Serbia: Prevalence, Incidence and Survival

Variation in novel exons (RACEfrags) of theMECP2gene in Rett syndrome patients and controls

The Role of Prenatal, Obstetric and Neonatal Factors in the Development of Autism

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