Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases (Articolo in rivista) (literal)

Anno

• 2012-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1055/s-0032-1308856 (literal)

Alternative label

• Giorgio Pini; Stefania Bigoni; Ingegerd Witt Engerström; Olga Calabrese; Beatrice Felloni; Maria Flora Scusa, Pietro Di Marco, Paolo Borelli; Ubaldo Bonuccelli; Peter O. O. Julu6; Jytte Bieber Nielsen; Bodil Morin; Stig Hansen; Giuseppe Gobbi; Paola Visconti; Maria Pintaudi; Veneselli Edvige; Anna Romanelli; Fabrizio Bianchi; Manuela Casarano; Roberta Battini; Giovanni Cioni; Francesca Ariani; Alessandra Renieri; Alberto Benincasa; Robert S. Delamont; Michele Zappella; ESRRA group (2012)
  Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases
  in Neuropediatrics; Thieme Medical Publisher, New York (Stati Uniti d'America)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Giorgio Pini; Stefania Bigoni; Ingegerd Witt Engerström; Olga Calabrese; Beatrice Felloni; Maria Flora Scusa, Pietro Di Marco, Paolo Borelli; Ubaldo Bonuccelli; Peter O. O. Julu6; Jytte Bieber Nielsen; Bodil Morin; Stig Hansen; Giuseppe Gobbi; Paola Visconti; Maria Pintaudi; Veneselli Edvige; Anna Romanelli; Fabrizio Bianchi; Manuela Casarano; Roberta Battini; Giovanni Cioni; Francesca Ariani; Alessandra Renieri; Alberto Benincasa; Robert S. Delamont; Michele Zappella; ESRRA group (literal)

Pagina inizio

• 37 (literal)

Pagina fine

• 43 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• https://www.thieme-connect.com/ejournals/abstract/10.1055/s-0032-1308856 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 43 (literal)

Rivista

• Neuropediatrics (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 7 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 1 (literal)

Note

• Scopu (literal)
• Google Scholar (literal)
• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Tuscany Rett Centre Versilia Hospital, Lido di Camaiore, Italy; Neurological Department, Versilia Hospital, Lido di Camaiore, Italy, Medical Genetic Unit, University Hospital of Ferrara, Italy, Swedish Rett Center, Östersund Hospital, Östersund, Sweden; Medical Genetic Service, ASL Imola, Italy; Breakspear Medical Group, Hertfordshire, United Kingdom; The Danish Center for Rett Syndrome, Kennedy Center, Glostrup, Denmark, Habilitation Department, Sundsvall Hospital, Sweden; Institute of Neurological Sciences, South Glasgow University Hospitals, Glasgow, United Kingdom; UO Neuropsichiatria Infantile, Ospedale Maggiore, Bologna, Italy; UO Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy; CNR-Italian National Research Council, Pisa, Italy; Dipartimento di Neuroscienze dell' Età Evolutiva, IRCCS Stella Maris, Calambrone, Pisa, Italy; Medical Genetics, University, Policlinico Le Scotte, Siena, Italy; UO Pediatria, Ospedale Versilia, Viareggio, Italy; 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) (literal)

Titolo

• Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases (literal)

Abstract

• 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. (literal)

Editore

• Thieme Medical Publisher (Editore)

Prodotto di

• Epidemiologia ambientale e registri di patologia (ME.P07.016.001) (Modulo)
• Istituto di fisiologia clinica (IFC) (Istituto)

Autore CNR

• ANNA MARIA ROMANELLI (Unità di personale interno)
• FABRIZIO BIANCHI (Unità di personale interno)

Insieme di parole chiave

• Keywords of "Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases" (Insieme di parole chiave)

Incoming links:

Autore CNR di

• FABRIZIO BIANCHI (Unità di personale interno)
• ANNA MARIA ROMANELLI (Unità di personale interno)

Prodotto

• Istituto di fisiologia clinica (IFC) (Istituto)
• Epidemiologia ambientale e registri di patologia (ME.P07.016.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Neuropediatrics (Rivista)

Editore di

• Thieme Medical Publisher (Editore)

Insieme di parole chiave di

• Keywords of "Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases" (Insieme di parole chiave)