title: Electroclinical phenotype in Rubinstein-Taybi syndrome.
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.
  
  
  METHODS
  Electroclinical features of twenty-three patients with RSTS (age between18months and 20years) 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.
  
  
  CONCLUSIONS
  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.
authors: Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address: antonella.giacobbe@gmail.com.
authors: Antonella
authors: A
authors: Giacobbe
authors: Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Paola Francesca
authors: PF
authors: Ajmone
authors: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Donatella
authors: D
authors: Milani
authors: Department of Neuroradiology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan, Italy.
authors: Sabrina
authors: S
authors: Avignone
authors: Department of Neuroradiology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan, Italy.
authors: Fabio
authors: F
authors: Triulzi
authors: Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
authors: Cristina
authors: C
authors: Gervasini
authors: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Francesca
authors: F
authors: Menni
authors: Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Federico
authors: F
authors: Monti
authors: Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Daniela
authors: D
authors: Biffi
authors: Neuroscience Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan, Italy.
authors: Katia
authors: K
authors: Canavesi
authors: Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors: Maria Antonella
authors: MA
authors: Costantino
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D007361:Intelligence Tests; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D012415:Rubinstein-Taybi Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology*; D012890:Sleep / Q000502:physiology; D014851:Wakefulness / Q000502:physiology; D055815:Young Adult
keywords: Electroencephalogram; Genotype–phenotype; Intellectual Disability (ID); Neuroradiology aspects; RSTS syndrome