Neuropediatrics 2012; 43(01): 037-043
DOI: 10.1055/s-0032-1308856
Original Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

Giorgio Pini
1  Tuscany Rett Centre Versilia Hospital, Lido di Camaiore, Italy
*  Members of the European Scientific Rett Research Association (ESRRA group) who have contributed to this work
,
Stefania Bigoni
1  Tuscany Rett Centre Versilia Hospital, Lido di Camaiore, Italy
3  Medical Genetic Unit, University Hospital of Ferrara, Italy
*  Members of the European Scientific Rett Research Association (ESRRA group) who have contributed to this work
,
Ingegerd Witt Engerström
4  Swedish Rett Center, Östersund Hospital, Östersund, Sweden
*  Members of the European Scientific Rett Research Association (ESRRA group) who have contributed to this work
,
Olga Calabrese
5  Medical Genetic Service, ASL Imola, Italy
,
Beatrice Felloni
1  Tuscany Rett Centre Versilia Hospital, Lido di Camaiore, Italy
,
Maria Flora Scusa
1  Tuscany Rett Centre Versilia Hospital, Lido di Camaiore, Italy
,
Pietro Di Marco
1  Tuscany Rett Centre Versilia Hospital, Lido di Camaiore, Italy
,
Paolo Borelli
2  Neurological Department, Versilia Hospital, Lido di Camaiore, Italy
,
Ubaldo Bonuccelli
2  Neurological Department, Versilia Hospital, Lido di Camaiore, Italy
,
Peter O. O. Julu
6  Breakspear Medical Group, Hertfordshire, United Kingdom
*  Members of the European Scientific Rett Research Association (ESRRA group) who have contributed to this work
,
Jytte Bieber Nielsen
7  The Danish Center for Rett Syndrome, Kennedy Center, Glostrup, Denmark
,
Bodil Morin
8  Habilitation Department, Sundsvall Hospital, Sweden
,
Stig Hansen
9  Institute of Neurological Sciences, South Glasgow University Hospitals, Glasgow, United Kingdom
*  Members of the European Scientific Rett Research Association (ESRRA group) who have contributed to this work
,
Giuseppe Gobbi
10  UO Neuropsichiatria Infantile, Ospedale Maggiore, Bologna, Italy
,
Paola Visconti
10  UO Neuropsichiatria Infantile, Ospedale Maggiore, Bologna, Italy
,
Maria Pintaudi
11  UO Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy
,
Veneselli Edvige
11  UO Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy
,
Anna Romanelli
12  CNR-Italian National Research Council, Pisa, Italy
,
Fabrizio Bianchi
12  CNR-Italian National Research Council, Pisa, Italy
,
Manuela Casarano
13  Dipartimento di Neuroscienze dell' Età Evolutiva, IRCCS Stella Maris, Calambrone, Pisa, Italy
,
Roberta Battini
13  Dipartimento di Neuroscienze dell' Età Evolutiva, IRCCS Stella Maris, Calambrone, Pisa, Italy
,
Giovanni Cioni
13  Dipartimento di Neuroscienze dell' Età Evolutiva, IRCCS Stella Maris, Calambrone, Pisa, Italy
,
Francesca Ariani
14  Medical Genetics, University, Policlinico Le Scotte, Siena, Italy
,
Alessandra Renieri
14  Medical Genetics, University, Policlinico Le Scotte, Siena, Italy
,
Alberto Benincasa
15  UO Pediatria, Ospedale Versilia, Viareggio, Italy
,
Robert S. Delamont
16  King's College Hospital NHS Foundation Trust and King's College London – Regional Neuroscience Centre, London, United Kingdom
*  Members of the European Scientific Rett Research Association (ESRRA group) who have contributed to this work
,
Michele Zappella
1  Tuscany Rett Centre Versilia Hospital, Lido di Camaiore, Italy
,
ESRRA group› Author Affiliations
Further Information

Publication History

13 November 2011

06 February 2012

Publication Date:
19 March 2012 (online)

Abstract

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females. The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene.

Aims In recent years more than 60 patients with mutations in the CDKL5 gene have been described in the literature, but the cardiorespiratory phenotype has not been reported. Our aim is to describe clinical and autonomic features of these girls.

Methods 10 girls with CDKL5 mutations and a diagnosis of Hanefeld variant have been evaluated on axiological and clinical aspects. In all subjects an evaluation of the autonomic system was performed using the Neuroscope.

Results Common features were gaze avoidance, repetitive head movements and hand stereotypies. The autonomic evaluation disclosed eight cases with the Forceful breather cardiorespiratory phenotype and two cases with the Apneustic breather phenotype.

Conclusions The clinical picture remains within the RTT spectrum but some symptoms are more pronounced in addition to the very early onset of seizures. The cardiorespiratory phenotype was dominated by Forceful breathers, while Feeble breathers were not found, differently from the general Rett population, suggesting a specific behavioral and cardiorespiratory phenotype of the RTT the Hanefeld variant.