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Introduction: The sinactive developmental model provides suggests a different way for the brain study by observing the children behavior. In all neurodevelopmental disorders, we can observe autonomic alteration comprising sleep disorders, meal behaviour alteration and self-regulatory impairment. These alterations/impairment are very frequent in autism spectrum disorders (ASD) (1-12). Aim of the present preliminary study is the assessment of metabolic rate in children affected by ASD. Material s and methods. 5 males affected by ASD aged 7-10 years (mean age 6.73±3:39), were recruited. The average score at the ADOS scale was 12.24 (SD± 3.29). The control group consisted of 5 males typically developing children (TDC) aged 7 to 11 years (mean age 7.92 ± 3.23). Autonomic/Metabolic evaluation: Free-living daily physical activity was measured using either the SenseWear Armband in order to calculate the total energy expenditure (TEE), baseline (REE) and the metabolic physical activity for prolonged periods of time. In general, the SenseWear Armband allows objective monitoring of the lifestyle including duration and sleep efficiency. Results: ASD subjects show values of total energy expenditure (p = 0.0047) and active energy expenditure (p = 0.044) significantly higher compared to control subjects (Table 1). In addition, ASD children have a metabolic intermediate significantly higher than healthy subjects (p=0.015). (Table 1). Finally, the ASD children show a significant reduction of sleep time (p = 0.027) (Table 1). Conclusion: ASD can represents a very significant risk factor for developing sleep disorders and to high energy expenditure, although further studies are needed in this respect.

Introduction: Anxiety is the psychological process by which the individual reacts to dangerous external stimuli, triggering responses (mediated by norepinephrine, GABA and serotonin) involving physiological reactions and cognitive strategies. Anxiety can be differentiated in state anxiety and trait anxiety. Fragile X Syndrome (FXS) is a disorder most commonly caused by a triplet repeat expansion of > 200 cytosine-guanine-guanine (CGG) repeats in the 50 untranslated region of the Fragile X mental retardation 1 (FMR1) gene. Aim of the present study is investigating the state or trait anxiety in a sample of mothers of children affected by X-fragile. Materials and methods: 84 mothers (mean age 48.36 ± 7.11) of children affected by FXS were recruited and compared with mother of 171 typical developing children (mean age 46.18 ± 9.53). The Scale State-Trait Anxiety Inventory for Adults (STAI) was used in order to assess the anxiety levels. Results: All mothers of children affected by FXS showed high score of anxiety levels at the STAI evaluation (Table 1), with no differences were found between mothers of males and females children affected. Conclusions: Mothers of children with FXS appear to be in a state of anxiety effects and suddenly even higher than those found later in mothers of children with other chronic diseases.

Introduction: Obstructive sleep apnea syndrome (OSAS) affects up to 4% of pediatric population, with many co-morbidities in the medium-long term. Functional alterations in prefrontal cortex (PFC) may explain why OSAS impacts aspects such as: executive functions, memory, motor control, attention, visual-spatial skills, learning and mood regulation. Emotional intelligence (EI) is a complex neuropsychological function that could be impaired in many clinical conditions. Aim of the study is to evaluate the difference in emotional intelligence skills among children with OSAS and healthy subjects Materials and methods: 29 children (16 males) mean age 9.5 ± 1.54 years, affected by OSAS were compared with 60 typical developing children similar for gender (p = 0,871), age (p = 0,934) and socio-economic status (p = 0.714). Bar-On emotional quotient inventory, youth version (EQ-i: YV) was used in order to assess the Emotional Quotient. Results: Apnea/hypopnea index (AHI) results to be 8.76 ±3.45 with medium desaturation index (ODI) amounting to 2:52 ± 21.5, average saturation 92.7±4.8 %, average desaturation 4.9 %. OSAS children have significant differences in Interpersonal scales (84.95 ± 07.03 vs. 99.61 ± 8.96; p

Orexin system regulates sleep/wake states and its deficiency result in narcolepsy thus indicating the crucial role of orexins in maintaining wakefulness. There are two types of orexin peptides: the orexin-A (OXA or hypocretin 1) and orexin-B (OXB or hypocre- tin 2). The Majority of the central nervous system orexin peptides are synthesized in neurons located in the lateral and back hypotha- lamus and send projections throughout the brain regions Orexin neurons are “multi-tasking” hence regulating also energy homeosta- sis, reward systems and feeding behaviour through connection with hypothalamic nuclei and through responsiveness to leptine and glucose. It has recently been found a connection with lymbic system suggesting a further possible role of orexins in regulating emo- tions. All the studies conducted confirm that orexin system regulates vigilance states, energy homeostasis, reward system, and emo- tions. These crucial role might be the target to develope treatments of narcolepsy, obesity, emotional stress, and drug addiction.

The consciousness is the expression of an enormous and complex variety of neurobiological events, phenomenological and psychological that, from the early stages of development, prepare the emergence soil of the Self. It is a complex of tangible and intan- gible characters distinct from one another - neural infrastructure, awareness, temporality, qualitative subjectivity, intentionality - to such an extent as to seem welded faces of the same prism. Consciousness is not a simple function of the mind, but its organization. In this paper we intend to show how its order is not strictly hierarchical, but sustained by multiple horizontal levels, each of which in a structural and functional continuum with several emerging phenomena. The same distinction between quantitative aspects (surveil- lance) and qualitative (content of consciousness) of consciousness is founded on the premise that the supervision is regulated by widespread in projection systems of the brain stem, hypothalamus and thalamus; while the content of consciousness depends on the cortical activity, and particularly from the associative areas of the cortex connected between them. The so-called disturbances of consciousness (vegetative state, the minimally conscious state, a coma, the Locked in syndrome) suggests the existence of an altera- tion of a common underlying system. Although the current heterogeneity of the data makes it impossible to attribute with certainty whether positive or negative about the alleged absence of consciousness in the individual patient, the search is deriving significant benefits from the accumulation of neuroimaging evidence in paintings like coma, general anesthesia , sleep, epilepsy and somnambu- lism. In this sense, it seems increasingly urgent a deeper understanding of the neural correlates during sleep or general anesthesia, as well as the relationships between neural processes and altered states of consciousness generated by pharmacological manipulations.

INTRODUCTION: Dyslexia is a complex neurodevelopemental disorder that affects 5 to 10% of school-age children. This condition consists in a specific learning disability with a neurological origin. These learning difficulties are unexpected in relation to other cognitive abilities and the provision of efficient classroom instruction. A range of neurobiological investigations suggests that disruption of the parieto-temporo-occipital systems underlies a failure of skilled reading to develop. The observation that dyslexia is both a familial and heritable problem was made early on and was confirmed by twin studies. They also suggested that both genetic and environmental factors are involved. Several loci have been implicated in dyslexia, notably on chromosomes 2, 3, 6, 15 and 18 and some candidate genes have been proposed, but no functional mutation has yet been identified. LITERATURE REVIEW: Dyslexia seldom appears isolated and dyslexic people are very likely to present other kinds of learning disabilities or psychiatric disorders. Specific language impairment, often with a mild outcome, is the most frequently associated with dyslexia. Indeed, late language development is often reported by dyslexic patients and also occurs more frequently among their siblings. Genetic linkage studies suggest some common genetic factor underlying this comorbidity. Dyscalculia is associated with dyslexia in 25% of cases, but most people with dyscalculia do not have any sign of dyslexia. The question of whether dyscalculia associated with dyslexia and dyscalculia itself rely on the same cognitive impairment is still controversial. Impaired motor development is also a common feature that affects nearly 50% of dyslexics and dyslexia is frequent among dyspraxic patients. This association raises the discussion on the role of motor impairment in dyslexia's physiopathology and the cerebellar theory of dyslexia. Beyond its link with other learning disorders, the study of dyslexia's comorbidity highlights psychopathological issues. ADHD is the most frequent psychiatric disorder associated with dyslexia. Underpinnings of this link between the two disorders seem to rely on common cognitive and genetic factors. Some authors have proposed a candidate gene ADRA2A to determine the condition including ADHD and dyslexia. In addition, dyslexics are exposed to a higher risk of anxiodepressive and behavioural disorders. Dyslexic children experience three times more behavioural disorders and one third of children with behavioural problems turn out to be affected by dyslexia. The literature study reveals inconsistent findings about depressed mood among dyslexics, but evidence of a persistent increase in the rate of anxiety disorders. The authors put forward the impact of environmental factors to explain these psychiatric comorbidities. CONCLUSION: This review emphasizes dyslexia's comorbidities because they represent an important issue, both from a scientific and clinical point of view. Indeed, for clinicians, children showing multiple learning disabilities have specific reeducation and educational needs and dyslexics have a higher risk of emotional and behavioural disorders. On the other hand, dyslexia's comorbidity study provides a powerful method for researchers to investigate the still unknown physiopathology of dyslexia

The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrome.

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 analysis, OPLS-DA). The predictions from each of these OPLS-DA models were then evaluated using a prediction set of 16 samples (8 autistic children and 8 controls) and receiver operating characteristic curves. Thereafter, a data fusion block-scaling OPLS-DA model was generated from the 6 best models obtained for each modality. This fused OPLS-DA model showed an enhanced performance (R(2)Y(cum) = 0.88, Q(2)(cum) = 0.75) compared to each analytical modality model, as well as a better predictive capacity (AUC = 0.91, p-value = 0.006). Metabolites that are most significantly different between autistic and control children (p < 0.05) are indoxyl sulfate, N-α-acetyl-l-arginine, methyl guanidine, and phenylacetylglutamine. This multimodality approach has the potential to contribute to find robust biomarkers and characterize a metabolic phenotype of the ASD population.

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 through comparison of mean values using Student’s t-test for the Rorschach variables treated as numerical variables (R, W%, W+%, D%, F%, F+%, R% l.t., F+% l.t. A%, H%, Anat%, Ban% and Orig%). P-values ,0.05 were considered statistically significant. For statistical analysis, the software STATISTICA (data analysis software system, version 8.1; StatSoft, Inc., 2001) was used. Results No statistical differences were found between the MwA and healthy control group for age (p=0.55), and sex distribution (p=0.804). From the comparison between the two samples MwA group shows lower W responses (p

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 compared with a control group of 255 (190 males) typical developing children (TDC) sons of no shift-workers, matched for age (mean 10.57 SD ± 1,89; p = 0.569) and sex distribution (Chi-square= 2.416; p = 0.120). Results: To evaluate statically differences among mean values of two samples, the Chi-square test was performed. Logistic regression was assessed to verify the role of paternal shift-working as risk factor for sleep disorders. p=0.05. All sleep disturbances categories were more prevalent in PMNE children sons of shift-workers than control group (Chi-square= 43.926; p

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.

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 (mean 5.91 ± 2.23 years). The diagnosis of ASD was confirmed by the evaluation ADOS -2, while the evaluation of sleep habits with the SDSC tests. Results: The two groups were matched for age (p = 0.633) and sex distribution (p = 0.483). The ASD subjects show a significantly higher rate of sleep disorders in all categories explored by SDSC tests (Table 1). Discussion: The sleep of people with ASD is compromised at any age and regardless of the severity of social impairment and communication, but not the level of development. Still, ASD is a very important risk factor for the development of sleep disorders, although the report could also be interpreted in the opposite manner.

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

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), all having a role during brain development. We further looked for 50 UTR trinucleotide repeats in FMR1 and FMR2 genes. No mutation or polymorphism co-segregating with dyslexia was found. This finding in French families with Dyslexia showed significant linkage on Xq27.3 enclosing FRAXA, and consequently confirmed the DYX9 region as a robust susceptibility locus. We reduced the previously described interval from 6.8 (DXS1227–DXS8091) to 4 Mb also disclosing a higher LOD score.

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 years in order to know the clinical evolution of infantile spasms. We report a child with West syndrome with onset at 8 months of age followed by some clusters of bilateral, arrhythmic myoclonic jerks of the upper limbs, mainly on awakening, synchronous with the generalized discharges of 4 Hz spike-wave occurring at 12 years of age and by co-occurrence of a later generalized tonic-clonic seizure at 14 years and four months, both sensitive to Levetiracetam suggesting a juvenile myoclonic epilepsy. Conclusions: This unusual evolution, never previously reported, suggests that both electroclinical features mentioned above may share some pathophysiological processes genetically determined which produce a susceptibility to seizure and emphasizes that the transition between different age-related epileptic phenotypes may involve also the West syndrome.

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.

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 = 23; 96%) had significantly higher rates of MPAs in four body areas (head, ears, mouth, hands); interestingly three of 41 MPAs best discriminated ASD groups from comparison subjects: abnormal head circumference, abnormal cephalic index, abnormal palate. Moreover, our results suggest that most MPAs occur predominantly after the first trimester of pregnancy. Conclusions These results support a prenatal neurodevelopmental model of the autism spectrum disorder.