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

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  1. Hypomyelinating Leukodystrophy due to HSPD1 Mutations: A New Patient

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

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

    Research output: Contribution to journalJournal articleResearchpeer-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.

Original languageEnglish
JournalNeuropediatrics
Volume43
Issue number1
Pages (from-to)37-43
Number of pages7
ISSN0174-304X
DOIs
Publication statusPublished - Feb 2012

Bibliographical note

Se også Correction to:
Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases
Neuropediatrics 2012; 43(01): 037-043
DOI: 10.1055/s-0032-1308856

    Research areas

  • Adolescent, Autonomic Nervous System Diseases, Brain, Child, Child, Preschool, Disability Evaluation, Electroencephalography, Epilepsy, Female, Humans, Magnetic Resonance Imaging, Methyl-CpG-Binding Protein 2, Mutation, Phenotype, Protein-Serine-Threonine Kinases, Rett Syndrome, Severity of Illness Index

ID: 46201422