Forensic issues and possible mechanisms of sudden death in Rett syndrome

Byard, Roger W.

doi:10.1016/j.jcfm.2005.08.013

Cited by 25 publications

(14 citation statements)

References 19 publications

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“…The exact cause of death was not registered in most cases. As previously shown, there was a high incidence of sudden death in RTT, which makes it difficult to compile the exact causes of death in RTT (28)(29)(30). In the initial records we found no significant health differences between those in the cohort who survived and those who later died or for whom the second questionnaire was not returned.In the earlier literature, the clinical picture in adult RTT has been reported to stabilize over time, with a high level of dependency.…”

Section: Discussionmentioning

confidence: 58%

Aging in Rett syndrome: a longitudinal study

et al. 2012

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Little is known about the aging process of people with specific syndromes, like Rett syndrome (RTT). Recognition of the clinical and behavioral characteristics of the adult RTT is needed in order to improve future management of the RTT girl and counseling of parents. In association with the Dutch RTT parent association, a 5-year longitudinal study was carried out. The study population consisted of 53 adult women with a clinical diagnosis of RTT. Postal questionnaires were sent, including demographic features, skills, physical and psychiatric morbidity. At the time of the second measurement seven women had died. In 2012, 80% of the questionnaires (37/46) were returned. Mean age of the women was 31.4 years. Molecular confirmation was possible for 83% of the women for whom analyses were carried out. The adult RTT woman has a more or less stable condition. The general disorder profile is that of a slow on-going deterioration of gross motor functioning in contrast to a better preserved cognitive functioning, less autonomic and epileptic features and good general health. This is the first longitudinal cohort study about aging in RTT. Continuing longitudinal studies are needed to gain more insight into the aging process in RTT.

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Section: Discussionmentioning

confidence: 58%

Aging in Rett syndrome: a longitudinal study

et al. 2012

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“…Life expectancy is reduced in patients with Rett syndrome for an high incidence of sudden death increasing with age; the causes of unexpected mortality have not yet been recognized, but several studies have associated sudden death to the presence of prolonged QT intervals. 20 A strong inverse correlation between serum adiponectin levels and heart ratecorrected QT interval was described in healthy subjects; it is possible to hypothesize a role for adiponectin in determining cardiac dysfunction in patients with Rett syndrome. 21 Furthermore, also leptin was associated with the alterations of autonomic nervous system and the cardiac electric instability in Rett syndrome, in consideration of the stimulatory effect of leptin on sympathetic activation in rats and the moderate sympathetic overactivity described in the syndrome.…”

Section: Discussionmentioning

confidence: 98%

“…These observations might suggest a role of adiponectin other than the regulation of energy expenditure. Life expectancy is reduced in patients with Rett syndrome for an high incidence of sudden death increasing with age; the causes of unexpected mortality have not yet been recognized, but several studies have associated sudden death to the presence of prolonged QT intervals 20 . A strong inverse correlation between serum adiponectin levels and heart rate‐corrected QT interval was described in healthy subjects; it is possible to hypothesize a role for adiponectin in determining cardiac dysfunction in patients with Rett syndrome 21 …”

Section: Discussionmentioning

confidence: 99%

Long‐term plasma levels of leptin and adiponectin in Rett syndrome

Blardi

Lalla

D'Ambrogio

et al. 2009

Clinical Endocrinology

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“…It has been reported that in Western Sweden most of the deaths are sudden and unexpected and occur during the night, or at the onset of acute infections, 18 whereas in Australia most deaths are reportedly linked to pneumonia 5 . Other causes of death in individuals with Rett syndrome include sudden unexpected death in epilepsy (SUDEP), brainstem autonomic failure with or without cardiac arrhythmias, pneumonia/aspiration, acute gastric dilatation and rupture, inflicted injury, and medication‐related problems 19 . Among the seven individuals from the original cohort for whom a registered cause of death was available, pneumonia, heart failure, gastric ulcer, and status epilepticus were similar to the more commonly listed causes of death in the Australian cohort.…”

Section: Discussionmentioning

confidence: 99%

Survival with Rett syndrome: comparing Rett’s original sample with data from the Australian Rett Syndrome Database

Freilinger

Bebbington

Lanator

et al. 2010

Develop Med Child Neuro

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Aim Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these females. Method We compared the survival of all Austrian female participants from Rett’s historical cohort (1966) with that of affected females registered in the Australian Rett Syndrome Database. The analysis included both Kaplan–Meier analysis and a log‐rank test for equality of survivor functions. Results Of females in the original Austrian group, three are still alive. The median age at death was 13 years 4.8 months. The probability of survival up to the age of 25 years was 21%, compared with 71% in the Australian cohort (p<0.001). We found no practical or statistically significant differences in survival between the various birth year groups within the Australian cohort. Interpretation Our data indicate that survival of females with Rett syndrome has improved since the late 1960s but that there has been shown no change in survival over the last 30 years, possibly because the follow‐up time has been too short.

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Forensic issues and possible mechanisms of sudden death in Rett syndrome

Cited by 25 publications

References 19 publications

Aging in Rett syndrome: a longitudinal study

Aging in Rett syndrome: a longitudinal study

Long‐term plasma levels of leptin and adiponectin in Rett syndrome

Survival with Rett syndrome: comparing Rett’s original sample with data from the Australian Rett Syndrome Database

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