Les compléments neurophysiologiques du diagnostic

2009

Les recherches presentees mettent en evidence des relations entre anomalies comportementales et cognitives et dysfonctionnements cerebraux sous-jacents a partir de methodes d'exploration electrophysiologique non invasives (electroencephalogramme, potentiels evoques auditifs). Trois types de troubles sont etudies : les troubles du sommeil, l'intolerance au changement et l'exploration visuelle atypique des visages humains. La complementarite des approches cliniques et neurophysiologiques est cruciale aux etapes du diagnostic fonctionnel, de l'intervention therapeutique et educative.

Addictions substance free during lifespan

2018

The addictions substance free is an umbrella definition comprises internet addiction, sexual addiction, gambling pathological, workholism, videogames and computer addiction. Actually, the technological addictions is frequent in young adolescents. The term Digital Natives indicates the children born in an information system of learning and communication different from that of the generations previous. This temporal range was strongly characterized by growing presence of technological communication toolsin daily life. The effects of hyper-exposition to technological tools tend to create a relational virtuality without a body is born,therefore, already within the family ties and during adolesc…

Minor Neurological Dysfunctions (MNDs) in Autistic Children without Intellectual Disability

2018

Background: Children with autism spectrum disorder (ASD) require neurological evaluation to detect sensory-motor impairment. This will improve understanding of brain function in children with ASD, in terms of minor neurological dysfunctions (MNDs). Methods: We compared 32 ASD children without intellectual disability (IQ ≥ 70) with 32 healthy controls. A standardized and age-specific neurological examination according to Touwen was used to detect the presence of MNDs. Particular attention was paid to severity and type of MNDs. Results: Children with ASD had significantly higher rates of MNDs compared to controls (96.9% versus 15.6%): 81.3% had simple MNDs (p < 0.0001) and 15.6% had comple…

The Quality of Life among Siblings of Autistic Individuals: A Scoping Review

2023

Autism spectrum disorders are a heterogeneous group of neurodevelopmental disorders presenting at a tender age, defined by qualitative deficits in social interactions and communication, thus having a substantial influence on the subject’s family unit. Quality of life (QoL) refers to a person’s perspective of their life situation, cultural and value background, objectives, expectations, and standards. When focusing on childhood and adolescence, age-related changes should be considered. For this scoping review, the authors used three peer-review literature database sources (PubMed/MEDLINE, Scopus, and ERIC) to delve deeper into components of the QoL of non-autistic siblings of autistic indivi…

Sympathetic, metabolic adaptations, and oxidative stress in autism spectrum disorders: How far from physiology?

2018

Autism spectrum disorders (ASD) is a complex and multifaceted neurobehavioral syndrome with no specific cause still identified, despite the worldwide increasing (prevalence for 1,000 children from 6.7 to 14.6, between 2000 and 2012). Many biological and instrumental markers have been suggested as potential predictive factors for the precocious diagnosis during infancy and/or pediatric age. Many studies reported structural and functional abnormalities in the autonomic system in subjects with ASD. Sleep problems in ASD are a prominent feature, having an impact on the social interaction of the patient. Considering the role of orexins (A and B) in wake-sleep circadian rhythm, we could speculate…

AUGMENTATIVE AND ALTERNATIVE COMMUNICATION (AAC) IN NEURODEVELOPMENTAL DISORDERS: A MINIREVIEW

2018

Children with neurodevelopmental disorders such as Autism Spectrum Disorders (ASD), cerebral palsy or severe motor speech disorders may beneficiate of augmentative and alternative communication (AAC) systems that may improve the developing language and the communication abilities. The term AAC tend to include each form of communication supplementing or replacing the natural speech production.

A Preliminary Study on Cranio-Facial Characteristics Associated with Minor Neurological Dysfunctions (MNDs) in Children with Autism Spectrum Disorder…

2020

Background. Craniofacial anomalies and minor neurological dysfunction (MNDs) have been identified, in literature, as risk factors for neurodevelopmental disorders. They represent physical indicators of embryonic development suggesting a possible contributory role of complications during early, even pre-conceptional, phases of ontogeny in autism spectrum disorders (ASD). Limited research has been conducted about the co-occurrence of the two biomarkers in children with ASD. This study investigates the associative patterns of cranio-facial anomalies and MNDs in ASD children, and whether these neurodevelopmental markers correlate with intensity of ASD symptoms and overall functioning. Methods. …

Autism is a prenatal disorder: Evidence from late gestation brain overgrowth

2018

This retrospective study aimed to specify the critical period for atypical brain development in individuals with autism spectrum disorder (ASD) using prenatal and postnatal head growth parameters. The sample consisted of 80 Caucasian, unrelated, idiopathic patients with ASD born after 1995. Fetal ultrasound parameters (head circumference [HC], abdominal circumference, and femur length) were obtained during the second and third trimesters of gestation. HC at birth and postnatal parameters at 12 and 24 months of age were also collected. Head overgrowth, assessed by HC, was highlighted during the second (20-26 weeks of amenorrhea) and third (28-36 weeks of amenorrhea) trimesters. Normal growth…

Metabolomics Study of Urine in Autism Spectrum Disorders Using a Multiplatform Analytical Methodology

2015

International audience; Autism spectrum disorder (ASD) is a neurodevelopmental disorder with no clinical biomarker. The aims of this study were to characterize a metabolic signature of ASD and to evaluate multiplatform analytical methodologies in order to develop predictive tools for diagnosis and disease follow-up. Urine samples were analyzed using (1)H and (1)H-(13)C NMR-based approaches and LC-HRMS-based approaches (ESI+ and ESI- on HILIC and C18 chromatography columns). Data tables obtained from the six analytical modalities on a training set of 46 urine samples (22 autistic children and 24 controls) were processed by multivariate analysis (orthogonal partial least-squares discriminant …

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

2013

Background: West syndrome is an age-dependent epilepsy with onset peak in the first year of life whose aetiology may be symptomatic or cryptogenic. Long-term cognitive and neurological prognosis is usually poor and seizure outcome is also variable. Over the past two decades a few patients with favourable cognitive outcome and with total recovery from seizures were identified among the cryptogenic group suggesting an idiopathic aetiology. Recent research has described two children with idiopathic WS who later developed a childhood absence epilepsy. Case presentation: We reviewed the medical records of patients with West syndrome admitted to the our Child Neuropsychiatry Unit in the last 15 y…

Evolution of Pediatric Migraine Patients Admitted at an Emergency Department after a 10-Year Follow-Up

2023

Background: Despite its high prevalence, the clinical course of pediatric migraine has not been fully understood, and previous studies present conflicting results. We present here the findings of a 10-year follow-up study involving children with severe migraine pain admitted to our emergency department. Furthermore, all studies were carried out on selected outpatient clinical case studies. Our aim was to evaluate a population of migraine children admitted to an emergency department because of increased severity or frequency of pain or even because of very anxious parents concerning their child’s headache in order to describe their long-term outcomes, whether it differed from that of o…

The rorschach test evaluation in chronic childhood migraine: A preliminary multicenter case-control study

2017

Object Migraine headache prevalence ranges from 1.2 to 3.2% at 7 years of age, increasing with age up to 4-19% in adolescents.1 The aim of the present study is investigating the personality style associated with children and adolescent affected by Migraine without aura (MwA), through administration of the projective Rorschach test and statistical comparison with a group of age- and sex matched healthy controls. Methods 137 patients (74 males and 63 females), aged 7.3–17.4 years (mean age 11.4, SD 3.02 years), affected by MwA according to the IHs-3 criteria. The projective Rorschach test has been administrered to all the cases and controls. Statistical comparisons of groups were performed th…

Minor physical anomalies in children with autism spectrum disorder.

2007

Abstract Aim To investigate the rate and topological profile of minor physical anomalies (MPAs) (prenatal errors of morphogenesis) in a group of children with Autism Spectrum Disorder (ASD), in order to better set a temporal framing of embryological factors involved in the neurodevelopmental etiology. Method A new modified Waldrop scale and a mixed approach of computerized photogrammetry and classic anthroposcopy was used to detect the presence or absence of 41 MPAs in 24 children (mean age: 7 years; sex ratio: 22M:2F) with ASD and 24 healthy comparison subjects (mean age: 7 years; sex ratio: 19M:5F) selected with DSM IV and CARS. Results We found that children with ASD presenting MPAs (n =…

Incomplete Gestation has an Impact on Cognitive Abilities in Autism Spectrum Disorder

2019

Extreme prematurity is known as a risk factor for autism spectrum disorder (ASD). However, the association between prematurity and ASD, for children born moderately and late preterm (MLPT) and those born early term (ET), is less established. This retrospective study aimed to characterize the phenotypic characteristics (i.e. behavioral profile and cognitive abilities) of 254 children with ASD, between 3 and 15 years of age, born MLPT (19 children), ET (60 children) and full term (175 children). MLPT and ET births do not modify ASD symptomatology, but modify cognitive development. The results highlight that incomplete gestation, i.e., MLPT or ET, has a negative impact on both verbal and nonve…

Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families

2012

Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences (CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), al…

Idiopathic Non-Dental Facial Pain Syndromes in Italian Children: A Clinical Case Series

2023

Background. The orofacial pain syndromes (OFPs) are a heterogeneous group of syndromes characterized by painful attacks involving the orofacial structures. They may be summarily subdivided into two great categories: (1) orofacial pain mainly attributed to dental disorders such as dentoalveolar and myofascial orofacial pain or temporomandibular joint (TM) pain; (2) orofacial pain mainly attributed to non-dental pain as neuralgias, facial localization of primary headaches or idiopathic orofacial pain. The second group is uncommon, often described by single case reports, can often show overlapping symptoms with the first group, and represents a clinical challenge, carrying the risk of underval…

Separaxion anxiety in pediatric migraine without aura: A pilot study

2017

Background: Separation anxiety (SA) can be defined as the fear reaction and protest manifested by children when the main caregivers move away from him/her or in front of unfamiliar person. SA near eight months may be considered as an important and normal phase of the correct and typical social neurodevelopment. Aims of the present pilot study is assessing the prevalence of separation anxiety in a population of patients with migraine without aura (MwA). Materials and methods: 119 children (69 males) suffering from MwA (mean age 1.78 ± 7:59) were consecutively recruited. The control population consisted of 231 (114 males) healthy subjects similar for age (7.64 ± 1:34; p = 0.768) and gender (p…

A Preliminary Study on Photic Driving in the Electroencephalogram of Children with Autism across a Wide Cognitive and Behavioral Range.

2022

Intermittent photic stimulation (IPS) is a useful technique in electroencephalography (EEG) to investigate the neurophysiological anomalies of brain activity. Although not an active task, IPS has also been explored in ASD; it is thought to capture local potential oscillators at specific frequencies and perhaps tap into rhythmic activity in a way that general resting-state recordings cannot. Previous studies suggest that individuals with ASD showed photic driving reactivity predominantly at lower frequencies of stimulation. In our study we used IPS to measure rhythmic oscillatory activity in a sample of 81 ASD children. We found a significant correlation linking ASD children with photic driv…

Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study

2014

The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex- and age-matched controls (p < 0.05). This increase was limited to ASD children aged ≤8 years (p < 0.01), and not older (p = 0.17). Urinary levels of p-cresol a…

Digital natives: Lucky or jellied?

2018

The technology now seems to have involved not only the world of adults, but also and especially that of children, becoming a form of communication and rapid interaction and widespread dissemination. Some parents start to worry about a possible technolog- ical dependency, given the hours spent by the youngest, called digital children, in front of computer, smartphones and tablets. A decade ago, the sociologist Mark Prensky spoke of digital natives, that is the first generation of children grew up with consoles, videogames and computers while today we are witnessing an evolution of this concept in the third generation of digital, appeared approximately with the arrival of iPad and tablet and …

Sleep habits in children affected by autism spectrum disorders: A preliminary case-control study

2017

Introduction: The core of autism spectrum disorders (ASD) consists of alterations of neurological functions that affect the typical developmental trajectory leading to deficits in social interaction and non-verbal behaviors. In general, ASD is diagnosed at age three and many other frequent neurological signs may be present, such as sleep disorders. The aim of study is evaluating sleep habits in a sample of ASD children. Material and methods: The study population consists of 65 ASD children (43 males and 22 females), aged between 2 and 11 years (mean 5.73 ± 2.39 years). The control group consists of 114 children with typical development (68 males and 46 females), aged between 3 and 10 years …

Executive functions rehabilitation proposal: A tailored intervention

2018

Executive functions (EFs) are cognitive processes that allow the development of intentional behaviors e requiring the ability to formulate goals and objectives, capacity for initiative, to anticipate the consequences of actions, to organize behavior and monitor it and adapt it based on the context. Patients with EFs deficiencies exhibit specific disorders of planning, regulation and correction intentional conduct and cognitive activity, while they have no problem in the execution of usual action sequences.

Spasmi infantili e Malattia di Krabbe: descrizione di un caso clinico

2004

Anxiety disorders in developmental age

2018

Anxiety disorders represent the more common psychiatric disorder in developmental age and it is estimated that a third of adolescents satisfy the criteria for an anxiety disorder at the age of 18. Many researches show that the disorders of anxiety in childhood are associated with anxiety disorders in adulthood, depressive disorders and use of psychoactive substances. Suffering from anxiety disorders, such as specific phobia, agoraphobia, social anxiety or panic disorder, represents a strong predictor for the development of other psychiatric disorders consequential. In the literature the debate on the weight of environmental factors and genetic factors in determining the development of anxie…

The cerebral localization of executive functions

2018

Executive Functions (EFs) are a complex neuropsychological tool that can lead all action of daily-life indipendently from age. The attempt to associate specific regions of the central nervous system (CNS) with specific sensory functions, motor and cognitive skills is one of the most recurring themes in the history of neuroscience. The concept of cerebral localization of mental activities started from the formulations of beginning phrenologists in Nineteenth century, passing through the holistic conceptions and antilocalization that marked some periods of the Twentieth century, until the beginning of the new millennium, characterized by the enormous popularity of the techniques of functional…

The complex cognitive system of executive functioning: A conceptual review

2018

Every day we are faced with a variety of situations that require the use of cognitive processes different, such as recognizing and memorizing stimuli, understanding and producing statements, solving problems. In recent decades, cognitive psychology and neuropsychology have made considerable advances in description of these processes and how they can be disrupted as a result of an injury to the nervous system central. However, it is clear that our adaptation to the environment is not limited to perceiving, reading, and speaking. A fundamental aspect of mental life is represented by the need to continuously modulate the use of these cognitive resources to contingent needs according to our goa…

A minireview about preterm birth and main specific neurodevelopmental disorders

2018

The preterm birth interrupts the physiological processes that allow the development of the Nervous System and of the body apparatus. Preterm children present a multi-organ dysfunction inversely proportional to the gestational age, leading to respiratory, cardiovascular, haematological, metabolic, infectious, and neurological problems.

ANGER IN CHILDREN: A MINIREVIEW

2017

Aggressive behavior is a peculiar characteristic of most animal species playing an important role in species preservation and two types have been identified: interspecific and intraspecific aggression. The interspecific refers purely to the instinct of predation, while the intraspecific is the purpose for species preservation. Anger has been found in very young children between the ages of four and seven, is manifested through vocalizations, expressions and global movements affecting the entire body of the child: it is a means of communication privileged to express themselves and communicate. Anger must be considered a positive event, even if it may frighten it has a positive effect: transf…

Technology, educational challenges: Serious game and rehabilitation

2018

During child neurodevelopment, parenting plays the key role for accompanying children trough the evolutionary path, taking into account the various risks and dangers that may occur. Actually, certain delays or developmental disturbances may be considered as the consequence of incorrect parenting behavior. In this perspective the use of electronic devices may be observed seriously.

The main sequelae of preterm birth: Focus on neurodevelopmental disorders

2018

Preterm birth is a traumatic event that interrupts the physiological processes that allow the development of the Nervous System and the body systems, resulting in a multi-organ dysfunction, of an entity in inverse proportion to the gestational age, which causes respiratory, cardiovascular, metabolic, infectious endocrine problems. and neurological. In particular, at a neurological level, in the most serious cases, for macroscopic lesions of the Central Nervous System, there is the risk of incurring in evolutionary Disabilities (Infantile Cerebral Palsy etc.); but in the absence of severe damage, since the birth occurs at a critical moment of the cerebral development in which the cortex is b…

EFFICACIA DEL SULTHIAME NEL TRATTAMENTO DI CRISI FOCALI FARMACORESISTENTI IN UN SOGGETTO CON SCLEROSI TUBEROSA

2006

Interfaccia tra disturbi del comportamento e disturbi dell’apprendimento.

2004

Autism is a prenatal disorder: Evidence from late gestation brain overgrowth.

2018

This retrospective study aimed to specify the critical period for atypical brain development in individuals with autism spectrum disorder (ASD) using prenatal and postnatal head growth parameters. The sample consisted of 80 Caucasian, unrelated, idiopathic patients with ASD born after 1995. Fetal ultrasound parameters (head circumference [HC], abdominal circumference, and femur length) were obtained during the second and third trimesters of gestation. HC at birth and postnatal parameters at 12 and 24 months of age were also collected. Head overgrowth, assessed by HC, was highlighted during the second (20-26 weeks of amenorrhea) and third (28-36 weeks of amenorrhea) trimesters. Normal growth…

The angelman syndrome: A brief review

2017

Angelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients' features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe.

Studio multicentrico italiano sui problemi scolastici del bambino immigrato.

2006

Efficacia del Sulthiame nel trattamento di crisi focali farmacoresistenti in un soggetto con Sclerosi Tuberosa

2006

Consultation neurologique et explorations fonctionnelles

2012

Drug Prescription and Delirium in Older Inpatients: Results From the Nationwide Multicenter Italian Delirium Day 2015-2016

2019

Objective This study aimed to evaluate the association between polypharmacy and delirium, the association of specific drug categories with delirium, and the differences in drug-delirium association between medical and surgical units and according to dementia diagnosis. Methods Data were collected during 2 waves of Delirium Day, a multicenter delirium prevalence study including patients (aged 65 years or older) admitted to acute and long-term care wards in Italy (2015-2016); in this study, only patients enrolled in acute hospital wards were selected (n = 4,133). Delirium was assessed according to score on the 4 "A's" Test. Prescriptions were classified by main drug categories; polypharmacy w…

"Delirium Day": a nationwide point prevalence study of delirium in older hospitalized patients using an easy standardized diagnostic tool

2016

Background To date, delirium prevalence in adult acute hospital populations has been estimated generally from pooled findings of single-center studies and/or among specific patient populations. Furthermore, the number of participants in these studies has not exceeded a few hundred. To overcome these limitations, we have determined, in a multicenter study, the prevalence of delirium over a single day among a large population of patients admitted to acute and rehabilitation hospital wards in Italy. Methods This is a point prevalence study (called “Delirium Day”) including 1867 older patients (aged 65 years or more) across 108 acute and 12 rehabilitation wards in Italian hospitals. Delirium wa…

The transcranial stimulation with direct currents (tdcs): An historical and conceptual minireview

2018

Transcranial Stimulation with Direct Currents (tDCS) is a method for non invasive brain stimulation created to induce functional changes in cerebral cortex. tDCS consists of application on the scalp of electrodes providing a low intensity direct current influencing neuronal functions. tDCS is not the only neurostimulation method for neuroscience clinical practice and research and can be used for treat many different clinical conditions such as migraine prevention, autism spectrum disorders (ASD), cerebral palsy rehabilitation, post-traumatic brain injury neuropsychological disorders.

Ketogenic diet as antiepileptic therapy: Neurotrasmission effects

2017

The Ketogenic diet (KD) presents many effects on neurostrasmitters pathways. KD may act on potassium channels sensitive to ATP (KATP), inhibiting rapamycin pathway in mammalians or glutamatergic synaptic transmission or mediated by peptide hormones.

Interfaccia tra disturbi specifici dell’apprendimento e disturbi del comportamento

2004

Rett syndrome and eye-tracking technology: A brief review

2019

Introduction: Rett Syndrome is a severe, genetically based neurodevelopment disorder caused mostlyby mutations in the MECP2 gene on the X chromosome. One of the supportive criteria for the diagnosis of this syndrome is intense eye gaze with preferential eye fixation on social stimuli and especially on people’s eyes. This pattern of preferential looking has generally been considered a way to make requests and communicate. Materials and methods: In this review we have collected the studies on the use of eye-tracking technology with subjects with Rett Syndrome. The combination of keywords “Rett Syndrome” and “Eye Tracking” was used in a Medline literature search. In order to be included in thi…

Ketogenic diet as antiepileptic therapy: Historical perspective

2017

Ketogenic diet (KD) is a high-lipid diet, adequate for protein content but low in carbohydrates content. Caloric intake is calculated on the basis of the ideal patient's needs, reduced by about 20%, and is about 90% of lipids present in 3: 1 or 4: 1 ratio with proteins and carbohydrates. KD is considered the most ancient antiepileptic therapy, actually proposed also for migraine therapy.

Paternal shift-working and sleep disorders in children affected by primary nocturnal enuresis

2017

Objectives: Primary monosymptomatic nocturnal enuresis (PMNE) is a common problem in childhood and studies about the sleep habits of affected children are not conclusive. Work-family conflict (WFC) results from the incompatibility between family demands and business/workplace needs. WFC can impact parental quality with many consequences on children health. Aim of study is assessing the prevalence of sleep disturbances in enuretic children, sons of work-shifters. Materials and methods: 80 children (67 males) aged 5-13 years (mean 10,43; SD ± 1,99), were consecutively referred for PMNE. Sleep habits were investigated with Sleep Disturbances Scale for Children (SDSC) and the results were compa…