title: Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
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.
  
  
  OBJECTIVE
  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.
authors.affiliation: Tuscany Rett Centre Versilia Hospital, Lido di Camaiore, Italy. g.pini@usl12.toscana.it
authors.forename: Giorgio
authors.initials: G
authors.lastname: Pini
authors.forename: Stefania
authors.initials: S
authors.lastname: Bigoni
authors.forename: Ingegerd Witt
authors.initials: IW
authors.lastname: Engerström
authors.forename: Olga
authors.initials: O
authors.lastname: Calabrese
authors.forename: Beatrice
authors.initials: B
authors.lastname: Felloni
authors.forename: Maria Flora
authors.initials: MF
authors.lastname: Scusa
authors.forename: Pietro
authors.initials: P
authors.lastname: Di Marco
authors.forename: Paolo
authors.initials: P
authors.lastname: Borelli
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Bonuccelli
authors.forename: Peter O O
authors.initials: PO
authors.lastname: Julu
authors.forename: Jytte Bieber
authors.initials: JB
authors.lastname: Nielsen
authors.forename: Bodil
authors.initials: B
authors.lastname: Morin
authors.forename: Stig
authors.initials: S
authors.lastname: Hansen
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Gobbi
authors.forename: Paola
authors.initials: P
authors.lastname: Visconti
authors.forename: Maria
authors.initials: M
authors.lastname: Pintaudi
authors.forename: Veneselli
authors.initials: V
authors.lastname: Edvige
authors.forename: Anna
authors.initials: A
authors.lastname: Romanelli
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Bianchi
authors.forename: Manuela
authors.initials: M
authors.lastname: Casarano
authors.forename: Roberta
authors.initials: R
authors.lastname: Battini
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cioni
authors.forename: Francesca
authors.initials: F
authors.lastname: Ariani
authors.forename: Alessandra
authors.initials: A
authors.lastname: Renieri
authors.forename: Alberto
authors.initials: A
authors.lastname: Benincasa
authors.forename: Robert S
authors.initials: RS
authors.lastname: Delamont
authors.forename: Michele
authors.initials: M
authors.lastname: Zappella
mesh_terms: D000293:Adolescent; D001342:Autonomic Nervous System Diseases / Q000209:etiology* / Q000235:genetics; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004185:Disability Evaluation; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D015518:Rett Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human