Abstract
Background
In Rett syndrome the autonomic nervous system is abnormal at various levels, from
the central to the peripheral nervous system. A role for serotoninergic dysfunction
has been suggested.
Objectives
The aim of our study was to evaluate the relation between cardiac dysautonomia (expressed
by means of heart rate variability) and plasma serotonin levels in girls affected
with Rett syndrome. Heart rate variability and plasma serotonin levels were evaluated
in 28 Rett girls aged 1 - 14 years. A Pearson correlation was used to determine whether
there was a relationship between plasma serotonin levels and each heart rate variability
parameter.
Results
In untreated Rett girls the plasma serotonin levels correlated with the sympathovagal
balance, as expressed by the low frequency (LF) to high frequency (HF) ratio (p < 0.05).
Conclusions
Our results suggest that cardiac dysautonomia could be linked to serotoninergic dysfunction
and that treatment with a serotonin analogue could be useful in improving the sympathovagal
balance.
Key words
Rett syndrome - dysautonomia - serotonin - sudden death
References
- 1
Amir R E, Van den Veyver I B, Wan M, Tran C Q, Francke U, Zoghbi H Y.
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding
protein 2.
Nat Genet.
1999;
23
185-188
- 2
Armstrong D D.
Review of Rett syndrome.
J Neuropathol Exp Neurol.
1997;
56
843-849
- 3
Armstrong D D, Panigrahy A, Sleeper L A, Kinney H C.
Preliminary studies demonstrating increased [3H]-lysergic acid diethylamide ([3H]LSD) binding to serotonin receptors in selected nuclei of the brain stem in Rett
syndrome (Abstract).
Brain Dev.
1998;
20
324
- 4
Armstrong D D.
Rett syndrome neuropathology review 2000.
Brain Dev.
2001;
23
72-76
- 5
Blatt C M, Rabinowitz S H, Lown B.
Central serotoninergic agents raise the repetitive extrasystole threshold of the vulnerable
period of the canine ventricular myocardium.
Circ Res.
1979;
44
723-730
- 6
Braddock S R, Braddock B A, Graham J M.
Rett Syndrome. An update and review for the primary pediatrician.
Clinical Pediatrics.
1993;
32
613-626
- 7
Budden S S, Myer E C, Butler I J.
Cerebrospinal fluid studies in the Rett syndrome: Biogenic amines and beta-endorphins.
Brain Dev.
1990;
12
81-84
- 8 Dahlström A.
The central and peripheral autonomic nervous system and possible implications in Rett
syndrome patients. Kerr A, Witt-Engerström I Rett Disorder and the Developing Brain. Oxford; Oxford
University Press 2001: 227-250
- 9
Guideri F, Acampa M, Hayek G, Zappella M, Di Perri T.
Reduced heart rate variability in patients affected with Rett syndrome. A possible
explanation for sudden death.
Neuropediatrics.
1999;
30
146-148
- 10
Guideri F, Acampa M, Di Perri T, Zappella M, Hayek G.
Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome
and not in the preserved speech variant.
J Child Neurol.
2001;
16
370-373
- 11
Julu P O, Kerr A M, Apartopoulos F, Al-Rawas S, Engerström I W, Engerström L. et al
.
Characterisation of breathing and associated central autonomic dysfunction in the
Rett disorder.
Arch Dis Child.
2001;
85
29-37
- 12
Kerr A M, Armstrong D D, Prescott R J, Doyle D, Kearney D.
L. Rett syndrome: analysis of deaths in the British survey.
Eur Child Adolesc Psychiatry.
1997;
6
71-74
- 13
Lehnert H, Lobbardi F, Raeder E A, Lorenzo A V, Verrier R L, Lown B. et al .
Increased release of brain serotonin reduces vulnerability of ventricular fibrillation
in the cat.
J Cardiovasc Pharmacol.
1987;
10
389-397
- 14
Nomura Y, Kimura K, Arai H, Segawa M.
Involvement of the autonomic nervous system in the pathophysiology of Rett syndrome.
Eur Child Adolesc Psychiatry.
1997;
6
42-46
- 15
Ramage A G.
Central cardiovascular regulation and 5-hydroxytryptamine receptors.
Brain Res Bull.
2001;
56
425-439
- 16
Singer D H, Martin G J, Magid N, Weiss J S, Schaad J W, Kehoe R. et al .
Low heart rate variability and sudden cardiac death.
J Electrocardiol.
1988;
21
46-55
- 17
Tagari P C, Boullin D J, Davies C L.
Simplified determination of serotonin in plasma by liquid chromatography with electrochemical
detection.
Clin Chem.
1984;
30
131-135
- 18
Verrier R.
Neurochemical approaches to the prevention of ventricular fibrillation.
Fed Proc.
1986;
45
2191-2196
- 19
Witt-Engerström I, Kerr A.
Meeting report. Workshop on autonomic function in Rett syndrome. Swedish Rett Center,
Frösön, Sweden, May 1998.
Brain Dev.
1998;
20
323-326
- 20
Zoghbi H Y, Percy A K, Glaze D G, Butler I J, Riccardi V M.
Reduction of biogenic amine levels in the Rett syndrome.
N Engl J Med.
1985;
313
921-924
M. D. Francesca Guideri
Dipartimento di Medicina Clinica e Scienze Immunologiche · Sezione di Immunologia
Clinica · Policlinico “Le Scotte”
Viale Bracci
53100 Siena
Italy
Email: guideri@unisi.it