Although the number of students with dyslexia enrolled in Italian universities is constantly growing, their presence remains relatively limited. The aim of this study was therefore to investigate the choices made by students with dyslexia in relation to university studies, and the underlying reasons for their choices. This study also compares these choices for students with and without dyslexia.
View Article and Find Full Text PDFAutosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis is an extremely rare condition, so far reported in a single family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. Genetic study allowed to identify a homozygous nonsynonymous mutation in CERS1, the gene encoding ceramide synthase 1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of C18-ceramides.
View Article and Find Full Text PDFTourette's disorder (TD) in children and adolescents is frequently co-morbid with attention-deficit/hyperactivity disorder (ADHD). Dopamine-blockers are the first line treatment for TD, whereas dopamine-agonists, such as stimulants, are the gold-standard in the treatment of ADHD. These contrasting effects supported concerns about the risk that stimulants for treating ADHD may trigger or worsen co-morbid tics.
View Article and Find Full Text PDFWe describe a unique patient with cerebral calcifications of unknown origin presenting with pharmacoresistant occipital lobe epilepsy and fixation-off sensitivity. Our report further expands the spectrum of seizure disorders associated with fixation-off sensitivity.
View Article and Find Full Text PDFThe comorbidity of Attention Deficit Hyperactivity Disorder (ADHD) with sleep disorders has been extensively studied. In particular, Restless Legs Syndrome (RLS) appears to be consistently more frequent in children with ADHD. Several papers also draw attention to the frequent occurrence of epileptic seizures and EEG abnormalities in ADHD children.
View Article and Find Full Text PDFPurpose: We performed a retrospective study to investigate seizure, EEG, social and cognitive outcome in adult LGS subjects.
Methods: We retrospectively evaluated 27 LGS patients aged 40-59 years. We assessed in particular the evolution of different seizure types and EEG findings, as well as cognitive and social outcome.
Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder often associated with mental retardation and epilepsy. We report on four new HI patients presenting with heterogeneous seizure manifestations and we review the literature concerning epileptic seizures in HI. At one extreme, there are patients with generalized seizures well controlled by drug treatment, whereas at the opposite there are patients with severe, often pharmacoresistant, focal seizures.
View Article and Find Full Text PDFObjective: To outline specific sleep disturbances in different clinical subsets of Attention Deficit/Hyperactivity Disorder (ADHD) and to confirm, by means of nocturnal video-polysomnography (video-PSG), a variety of sleep disorders in ADHD besides the classically described periodic leg movement disorder (PLMD), restless legs syndrome (RLS) and sleep related breathing disorder (SRBD).
Methods: Fifty-five ADHD children (47 M, 8F; mean age=8.9 y) were included: 16 had Inattentive and 39 Hyperactive/Impulsive or Combined ADHD subtype.
We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht-Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis.
View Article and Find Full Text PDFPurpose: Lennox-Gastaut syndrome (LGS) is a severe epileptic condition characterized by multiple seizure types including tonic seizures, slow spike-and-wave discharges on electroencephalography (EEG), and cognitive impairment. LGS can occur in apparently healthy subjects or in patients with preexisting brain damage. The onset peaks between 3 and 5 years of age and the prognosis is usually poor.
View Article and Find Full Text PDFThe aims of this study were to clarify if patients with Unverricht-Lundborg disease (ULD) have adequate cognitive functioning and to delineate their neuropsychological profile. We evaluated 20 patients with ULD and 20 healthy, matched controls. Mean age of the patients was 35 years, and mean duration of disease, 22 years.
View Article and Find Full Text PDFIctal paresis (IP) is a rare negative motor phenomenon presenting challenging differential diagnostic problems with transient ischemic attacks, post-ictal paralysis, migraine and psychogenic paralysis. Video-EEG undoubtedly represents the essential mean for a proper diagnosis. Periodic lateralised epileptiform discharges (PLEDs) are a distinctive EEG pattern, consisting of periodic spike or sharp wave discharges, often associated with seizures.
View Article and Find Full Text PDFIn this paper we explore the prevalence of ictal and interictal epileptiform discharges (IEDs) and sleep disorders in ADHD children referred to a sleep clinic for all night video-PSG. Forty-two ADHD outpatients (35 males and 7 females) underwent video-PSG and a behavioural/neuropsychological assessment. Spearman correlation coefficients (p<0.
View Article and Find Full Text PDFObjective: To analyse the prescribing pattern and the safety profile of different atypical antipsychotics and selective serotonin reuptake inhibitors (SSRIs) during the years 2002-2003 in paediatric setting.
Setting: Two Child Neurology and Psychiatry Divisions of Southern Italy (University of Messina and "Oasi Institute for Research on Mental Retardation and Brain Aging" of Troina).
Methods: A retrospective chart review of all children and adolescents starting an incident treatment with atypical antipsychotics or SSRIs was performed.
We report a unique pair of monozygotic twins with childhood epilepsy with occipital paroxysms who showed subtle cognitive deficits. The twin with a more severe epileptic disorder showed a more severe impairment of cognitive functioning. We suggest that epileptic focus may act as an element of disturbance in the development of primary functions and may give rise to a neuropsychological impairment proportionate to the severity of the epileptic activity.
View Article and Find Full Text PDFBenign childhood epilepsy with occipital paroxysms is classified among childhood benign partial epilepsies. The absence of neurological and neuropsychological deficits has long been considered as a prerequisite for a diagnosis of benign childhood partial epilepsy. Much evidence has been reported in literature in the latest years suggesting a neuropsychological impairment in this type of epilepsy, particularly in the type with Rolandic paroxysms.
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