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Electroclinical phenotype in Rubinstein–Taybi syndrome

  • Author Footnotes
    1 These authors were equally responsible for the work described in this paper.
    Antonella Giacobbe
    Correspondence
    Corresponding author at: Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via Pace 9, 20122 Milan, Italy. Tel: +39 02 55034400; fax: +39 02 55034421.
    Footnotes
    1 These authors were equally responsible for the work described in this paper.
    Affiliations
    Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
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  • Author Footnotes
    1 These authors were equally responsible for the work described in this paper.
    Paola Francesca Ajmone
    Footnotes
    1 These authors were equally responsible for the work described in this paper.
    Affiliations
    Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
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  • Donatella Milani
    Affiliations
    Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
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  • Sabrina Avignone
    Affiliations
    Department of Neuroradiology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milan, Italy
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  • Fabio Triulzi
    Affiliations
    Department of Neuroradiology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milan, Italy
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  • Cristina Gervasini
    Affiliations
    Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy
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  • Francesca Menni
    Affiliations
    Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
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  • Federico Monti
    Affiliations
    Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
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  • Daniela Biffi
    Affiliations
    Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
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  • Katia Canavesi
    Affiliations
    Neuroscience Intensive Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Milan, Italy
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  • Maria Antonella Costantino
    Affiliations
    Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
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  • Author Footnotes
    1 These authors were equally responsible for the work described in this paper.
Published:February 08, 2016DOI:https://doi.org/10.1016/j.braindev.2015.12.003

      Abstract

      Objective

      Rubinstein–Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurological features are scant and dated.
      The aim of this study is to describe the electroclinical phenotype of twenty-three patients with RSTS, and to try to correlate electroclinical features with neuroradiological, cognitive and genetic features.

      Patients and methods

      Electroclinical features of twenty-three patients with RSTS (age between18 months and 20 years) were analyzed. Sleep and awake EEG was performed in twenty-one patients, and brain MRI in nineteen patients. All subjects received cognitive evaluation.

      Results

      EEG abnormalities were observed in 76% (16/21) of patients. A peculiar pattern prevalent in sleep, characterized by slow monomorphic activity on posterior regions was also observed in 33% (7/21) of patients. Almost no patient presented seizures. Eighty-four percentage of patients had brain MRI abnormalities, involving corpus callosum and/or posterior periventricular white matter. Average General Quotient (GQ) was 52, while average IQ was 55, corresponding to mild Intellectual Disability. The homogeneous electroclinical pattern was observed mainly in patients with more severe neuroradiologic findings and moderate Intellectual Disability/Developmental Disability (ID/DD). No genotype-phenotype correlations were found.

      Conclusion

      The specific electroclinical and neuroradiological features described may be part of a characteristic RSTS phenotype. Wider and longitudinal studies are needed to verify its significance and impact on diagnosis, prognosis and clinical management of RSTS patients.

      Keywords

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