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Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Giorgio Pini
  • Stefania Bigoni
  • Ingegerd Witt Engerström
  • Olga Calabrese
  • Beatrice Felloni
  • Maria Flora Scusa
  • Pietro Di Marco
  • Paolo Borelli
  • Ubaldo Bonuccelli
  • Peter O O Julu
  • 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
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UNLABELLED: 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.

OriginalsprogEngelsk
TidsskriftNeuropediatrics
Vol/bind43
Udgave nummer1
Sider (fra-til)37-43
Antal sider7
ISSN0174-304X
DOI
StatusUdgivet - feb. 2012

ID: 46201422