Trisomy 21 and Rett syndrome: A double burden

Leonard, Helen; Weaving, Linda S.; Eastaugh, P; Smith, Lorraine E.; Delatycki, Martin B.; Engerström, I Witt; Christodoulou, John

doi:10.1111/j.1440-1754.2004.00413.x

Cited by 8 publications

(7 citation statements)

References 46 publications

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“…We have thus streamlined this exclusion to a single statement that is meant to cover any other primary cause of neurological dysfunction. There have been reports of individuals who have all the clinical features of typical RTT and disease-causing mutations in MECP2 but also have potential causes of neurological dysfunction, such as trisomy 2115. These cases should not be classified as typical RTT because the diagnosis of typical RTT suggests a particular disease onset and course, which may be exacerbated by other confounding etiological entities.…”

Section: Revised Clinical Criteria For Typical Rttmentioning

confidence: 99%

Rett syndrome: Revised diagnostic criteria and nomenclature

Neul

Kaufmann

Glaze

et al. 2010

Annals of Neurology

1,107

691

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Objective Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials. Method RettSearch members, representing the majority of the international clinical RTT specialists, participated in an iterative process to come to a consensus on a revised and simplified clinical diagnostic criteria for RTT. Results The clinical criteria required for the diagnosis of classic and atypical RTT were clarified and simplified. Guidelines for the diagnosis and molecular evaluation of specific variant forms of RTT were developed. Interpretation These revised criteria provide clarity regarding the key features required for the diagnosis of RTT and reinforce the concept that RTT is a clinical diagnosis based on distinct clinical criteria, independent of molecular findings. We recommend that these criteria and guidelines be utilized in any proposed clinical research.

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Section: Revised Clinical Criteria For Typical Rttmentioning

confidence: 99%

Rett syndrome: Revised diagnostic criteria and nomenclature

Neul

Kaufmann

Glaze

et al. 2010

Annals of Neurology

1,107

691

View full text Add to dashboard Cite

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“…A case with both p.R168X and trisomy 21 was excluded from the analysis to avoid the potential confounding effects arising from coexisting Down's syndrome. 21 …”

Section: Studies Determination Of Degree and Direction Of X-inactmentioning

confidence: 99%

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

Archer

Evans

Leonard

et al. 2006

Journal of Medical Genetics

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“…15 Table I summarizes the limited available literature relating to the prevalence of gallbladder disease in the general paediatric population and those with Down syndrome. In the US family survey, gallbladder disease was reported by parents of 3% of females with RTT 6 and has also been noted in single case reports of males 16 and females 17 with RTT.…”

mentioning

confidence: 86%

“…17 The remainder of individuals in the ARSD cohort were 18,20,22,22,24,25,29,30, and 31 years old. A similar pattern was noted in the InterRett cohort, with four individuals younger than 18 years (4,12,15,17), with the remaining (n=10) aged 18 to 47 years. The incidence rate of occurrence of gallbladder disease was 2.3 (95% CI 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the ARSD and InterRett cohorts respectively.…”

Section: Part 1: Occurrence Of Gallbladder Diseasementioning

confidence: 99%

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

Freilinger

Böhm

Lanator

et al. 2014

Develop Med Child Neuro

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AIM This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease.METHOD The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo-47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations. RESULTSThe incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic.INTERPRETATION Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in the X-linked methylCpG-binding-protein-2 (MECP2) gene.1 After a period of apparently normal early development, there is a period of regression including loss of purposeful hand use and/or language skills, and the development of distinctive hand stereotypies and impaired gait. There are also supportive criteria including poor growth, respiratory irregularities, and the development of scoliosis.2 Many factors contribute to poor growth in RTT including altered oropharyngeal dysfunction and reduced food intake, 3,4 and problems with gastroesophageal motility such as reflux and constipation. 5Dysmotility may result from absent primary or secondary intestinal waves and the presence of tertiary intestinal waves as observed during videofluoroscopy, with concurrent delayed gastric emptying and atony.3 In a recent questionnaire-based survey in the USA (n=983), feeding problems were reported in 81% and gastrointestinal problems in 92% of individuals with Rett syndrome. 6 Gastrointestinal dysfunction in RTT contributes to clinical severity and affects the daily lives of the females and their caregivers. 6In general, gallstones are rare in childhood and adolescence, with estimated prevalence between 0% and 2% in the small number of studies undertaken. [7][8][9][10][11][12] However, there appears to be a higher prevalence in particular populations of children, such as those with Down syndrome, with reported prevalences up to 25%. 13,14 Clinical studies in Down syndrome indi...

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Trisomy 21 and Rett syndrome: A double burden

Cited by 8 publications

References 46 publications

Rett syndrome: Revised diagnostic criteria and nomenclature

Rett syndrome: Revised diagnostic criteria and nomenclature

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

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