Background: Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic component and high heterogeneity. Essential ASD refers to patients who do not have other comorbidities. This study aimed to investigate the genetic basis of essential ASD using whole exome sequencing (WES) and array-comparative genomic hybridization (array-CGH).
View Article and Find Full Text PDFDevelopmental dyscalculia (DD) has long been thought to be determined by multiple components. Dyscalculia has high comorbidity with other learning and developmental disabilities, including reading and writing disorders, attention deficits, and problems in visual/spatial skills, short memory, and working memory. This study aims to assess prevalence rates for isolated as well as comorbid DD in a sample of Italian-speaking children.
View Article and Find Full Text PDFThe direct and long-term effects of children's exposure to traumatic events can be seen in a complex continuum, based first of all on the type of trauma. Children's reactions to trauma may have different manifestations from the clinical picture of the PTSD, exhibiting dissociative, somatic, depressive or anxiety symptoms, and/or disruptiveness. we conducted a cross-sectional study in a psychiatric patients sample to determine the extent to which complex trauma history is associated with disease-related characteristics (diagnosis, dissociative symptoms, somatic symptomatology, impairment degree).
View Article and Find Full Text PDFTourette syndrome (TS) and attention-deficit and hyperactivity disorder (ADHD) are co-morbid neurodevelopmental conditions affecting more commonly male patients. We set out to determine the impact of co-morbid ADHD on cognitive function in male children with TS by conducting a controlled study. Participants included four matched groups of unmedicated children (age range 6-15 years): TS (n=13), TS+ADHD (n=8), ADHD (n=39), healthy controls (n=66).
View Article and Find Full Text PDFObjective: We aimed to define the sociodemographic, clinical, and prescription profiles of the participants enrolled in the Italian Lombardy ADHD Register.
Method: Data on patients evaluated by the 18 regional ADHD reference centers in the 2012 to 2013 period were analyzed.
Results: Seven hundred fifty-three of 1,150 (65%) suspected patients received a diagnosis of ADHD.
Background: Confrontation naming tasks are useful in the assessment of children with learning and language disorders.
Objectives: The aims of this study were (1) providing longitudinal data on confrontation naming; (2) investigating the role of socioeconomic status (SES), intelligence, age, and gender in confrontation naming; (3) identifying relationship between confrontation naming and reading abilities (fluency, accuracy, and comprehension).
Method: A five-year longitudinal investigation of confrontation naming (i.
Tourette syndrome is a neurodevelopmental disorder characterized by multiple tics and commonly associated with behavioral problems, especially obsessive-compulsive disorder and attention-deficit hyperactivity disorder (ADHD). The presence of specific personality traits has been documented in adult clinical populations with Tourette syndrome but has been underresearched in younger patients. We assessed the personality profiles of 17 male adolescents with Tourette syndrome and 51 age- and gender-matched healthy controls using the Minnesota Multiphasic Personality Inventory-Adolescent version, along with a standardized psychometric battery.
View Article and Find Full Text PDFBackground: Gilles de la Tourette syndrome (GTS) is a chronic childhood-onset neuropsychiatric disorder with a significant impact on patients' health-related quality of life (HR-QOL). Cavanna et al. (Neurology 2008; 71: 1410-1416) developed and validated the first disease-specific HR-QOL assessment tool for adults with GTS (Gilles de la Tourette Syndrome-Quality of Life Scale, GTS-QOL).
View Article and Find Full Text PDFTourette syndrome is a neurodevelopmental disorder characterized by multiple tics and is often associated with comorbid behavioral problems. Research with generic instruments in child populations showed that comorbid disorders can have a greater impact on health-related quality of life than tic severity. This study investigated the usefulness of a newly developed disease-specific instrument, the Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (GTS-QOL-C&A), in assessing health-related quality of life in young patients with Tourette syndrome with and without behavioral comorbidity.
View Article and Find Full Text PDFIn Tourette syndrome, motor and phonic tics are associated with a spectrum of psychiatric disorders. As proxy report instruments are commonly used to assess children with Tourette syndrome, we investigated the relationship between child and mother ratings of behavioral problems. We enrolled 28 children with Tourette syndrome (25 males; mean age, 13.
View Article and Find Full Text PDFTourette syndrome is a neurodevelopmental disorder characterized by tics and comorbid behavioral problems. This study compared child- and parent-reported quality of life and everyday functioning. We assessed 75 children with Tourette syndrome, of which 42 (56%) had comorbid conditions (obsessive-compulsive disorder = 25; attention-deficit hyperactivity disorder = 6; both comorbidities = 4).
View Article and Find Full Text PDFPurpose: To evaluate the relative contribution of demographic and epilepsy-related variables, depressive symptoms, and adverse effects (AEs) of antiepileptic drugs (AEDs) to health-related quality of life (HRQOL) in adults with pharmacoresistant epilepsy.
Methods: Individuals with epilepsy whose seizures failed to respond to at least one AED were enrolled consecutively at 11 tertiary referral centers. HRQOL was assessed by the Quality of Life in Epilepsy Inventory-31 (QOLIE-31), AEs by the Adverse Event Profile (AEP), and depressive symptoms by the Beck Depression Inventory-II (BDI-II).
We describe the long-term follow-up of a patient affected by chorea mollis, a rare variant of Sydenham's chorea of which there are very few reports in the literature. Our patient, a previously healthy 8-year-old boy developed progressive clumsiness, gait disturbance, generalised hypotonia and muscle weakness, choreic movements of the limbs and behavioural disturbances. Following the diagnosis of chorea mollis, the patient received prophylaxis (monthly injections of benzathine benzyl penicillin).
View Article and Find Full Text PDFOver the last few years, aripiprazole has been proposed as a potentially useful medication for tics in patients with Tourette syndrome (TS). Aripiprazole has been associated with fewer adverse effects compared with other atypicals; however, little is known about its tolerability profile in the TS population. This study assessed the prevalence and characteristics of adverse effects resulting from the use of aripiprazole in a retrospective chart review of 29 patients with TS.
View Article and Find Full Text PDFAims: Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple tics and associated with co-morbid behavioral problems (TS-plus). We investigated the usefulness of self-report versus parent- and teacher-report instruments in assisting the specialist assessment of TS-plus in a child/adolescent population.
Methods: Twenty-three patients diagnosed with TS (19 males; age 13.
To evaluate the mutational profiles associated with BRAF mutations in human melanoma, we have studied BRAF, RAS, PTEN, TP53, CDKN2A and CDK4 genes and their expression in melanoma lesions. Owing to the lack of sufficient material from fresh specimens, we employed short-term cell lines obtained from melanoma biopsies. In all, 41 melanoma obtained from eight primary lesions, 20 nodal, 11 cutaneous and two visceral metastases from patients with sporadic (n=31), familial (n=4) and multiple melanoma (n=2) were analysed.
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