8 research outputs found
Students with dyslexia between school and university: Post-diploma choices and the reasons that determine them. An Italian study.
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. In all, 440 high school students and their families agreed to take part in this project. Socio‐demographic data was collected for the 47 students with dyslexia and 47 class‐matched students without dyslexia, along with information on their current schools and their future educational plans. A specially developed questionnaire was used for the students, in combination with structured interviews with their families. The results show significant differences between these groups regarding both choices for university studies and the underlying motivations for these choices. Furthermore, certain psychological and emotional factors are implicated here in the decisions of the students with dyslexia regarding both university studies and their underlying reasons. Future research is needed to further investigate these factors in the educational choices of students with dyslexia
Il trattamento dell’insonnia in età evolutiva: report clinico e revisione della letteratura
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis
Autosomal 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. The mutation decreased C18-ceramide levels. In addition, downregulation of CerS1 in neuroblastoma cell line showed activation of ER stress response and induction of proapoptotic pathways. This observation demonstrates that impairment of ceramide biosynthesis underlies neurodegeneration in humans
Sleep disorders in children with Attention-Deficit/Hyperactivity Disorder (ADHD) recorded overnight by video-polysomnography
Objective: 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 = 8.9y) were included: 16 had Inattentive and 39 Hyperactive/Impulsive or Combined ADHD subtype. Behavior assessment by Conners and SNAP-IV Scales, a structured sleep interview and a nocturnal video-PSG were administered. Results: Most children/parents reported disturbed, fragmentary sleep at night; complaints were motor restlessness (50%), sleep walking (47.6%). night terrors (38%), confusional arousals (28.5%), snoring (21.4%), and leg discomfort at night associated with RLS (11.9%). There is a significant difference (p value <0.05 or <0.001) in almost all the studied sleep variables between ADHD children and controls. International RLS Rating Scale scoring, Periodic Limb Movements during Sleep (PLMS) and Wake (PLMW) indexes, hyperactivity and opposition scores and ADHD subtype appear related. Different sleep disorders seem to address specific ADHD phenotypes and correlate with severity of symptoms as in sleep related movement disorders occurring in Hyperactive/Impulsive and Combined ADHD subtypes. Besides, an abnormality of the arousal process in slow wave sleep with consequent abnormal prevalence of disorders of arousal possibly enhanced by SRBD has also been detected in 52% of our sample. Conclusions: This study underlines the opportunity to propose and promote the inclusion of sleep studies, possibly by video-PSG, as part of the diagnostic screening for ADHD. This strategy could address the diagnosis and treatment of different specific ADHD phenotypic expressions that might be relevant to children's symptoms and contribute to ADHD severity. (C) 2009 Elsevier B.V. All rights reserved