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.
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.
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