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Daydreaming is a cognitive phenomenon characterized by the redirection of attention from the external world to inner representations. Although serving several adaptive functions, excessive daydreaming has been related to emotional problems and poor psychosocial adjustment. During adolescence, this phenomenon has been scarcely explored as potential psychopathological correlate. This study aims to explore daydreaming frequency and association with psychopathological symptoms in a non-referred population.Participants were adolescents from a community sample (N = 251). Daydreaming was assessed through the Daydreaming Frequency Scale (DDFS). Youth Self-Report (YSR) and Strength and Difficulties Questionnaire (SDQ) were used as self-reports to evaluate psychopathological problems and adaptive functioning.Excessive daydreaming was present in 12.7% of participants. DDFS scores were significantly elevated in respondents with clinical scores for internalizing, depressive, obsessive-compulsive, and post-traumatic stress problems. Symptom severity correlated positively with the DDFS. Higher daydreaming was also associated with emotional symptoms, conduct problems and total difficulties on the SDQ.Adolescents who daydream show increased depressive, obsessive-compulsive, and post-traumatic stress symptoms. Possible cognitive processes at play in the relationship between daydreaming and psychopathology are discussed. Daydreaming may represent a silent psychopathological index that deserves better recognition in the clinical practice and in mental health initiatives for adolescents.

Background: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder of complex genetic architecture and is characterized by multiple motor tics and at least one vocal tic persisting for more than 1 year. Methods: We performed a genome-wide meta-analysis integrating a novel TS cohort with previously published data, resulting in a sample size of 6133 individuals with TS and 13,565 ancestry-matched control participants. Results: We identified a genome-wide significant locus on chromosome 5q15. Integration of expression quantitative trait locus, Hi-C (high-throughput chromosome conformation capture), and genome-wide association study data implicated the NR2F1 gene and associated long noncoding RNAs within the 5q15 locus. Heritability partitioning identified statistically significant enrichment in brain tissue histone marks, while polygenic risk scoring of brain volume data identified statistically significant associations with right and left thalamus volumes and right putamen volume. Conclusions: Our work presents novel insights into the neurobiology of TS, thereby opening up new directions for future studies.

Background The aim of this study was to investigate the effect of feedback devices on visual attention and the quality of pediatric resuscitation. Methods This was a randomized cross-over simulation study at the Medical University of Vienna. Participants were students and neonatal providers performing four resuscitation scenarios with the support of feedback devices randomized. The primary outcome was the quality of resuscitation. Secondary outcomes were total dwell time (=total duration of visit time) on areas of interest and the workload of participants. Results Forty participants were analyzed. Overall, chest compression (P P = 0.002) when using a feedback device. Dwell time on the feedback device was 40.1% in the ventilation feedback condition and 48.7% in the chest compression feedback condition. In both conditions, participants significantly reduced attention from the infant’s chest and mask (72.9 vs. 32.6% and 21.9 vs. 12.7%). Participants’ subjective workload increased by 3.5% (P = 0.018) and 8% (P Conclusions The quality of pediatric resuscitation significantly improved when using real-time feedback. However, attention shifted from the manikin and other equipment to the feedback device and subjective workload increased, respectively. Impact Cardiopulmonary resuscitation with feedback devices results in a higher quality of resuscitation and has the potential to lead to a better outcome for patients. Feedback devices consume attention from resuscitation providers. Feedback devices were associated with a shift of visual attention to the feedback devices and an increased workload of participants. Increased workload for providers and benefits for resuscitation quality need to be balanced for the best effect.

AIM To investigate the association between circulating anti-dopamine D2 receptor (D2R) autoantibodies and the exacerbation of tics in children with chronic tic disorders (CTDs). METHOD One hundred and thirty-seven children with CTDs (108 males, 29 females; mean age [SD] 10y 0mo [2y 7mo], range 4-16y) were recruited over 18 months. Patients were assessed at baseline, at tic exacerbation, and at 2 months after exacerbation. Serum anti-D2R antibodies were evaluated using a cell-based assay and blinded immunofluorescence microscopy scoring was performed by two raters. The association between visit type and presence of anti-D2R antibodies was measured with McNemar's test and repeated-measure logistic regression models, adjusting for potential demographic and clinical confounders. RESULTS At exacerbation, 11 (8%) participants became anti-D2R-positive ('early peri-exacerbation seroconverters'), and nine (6.6%) became anti-D2R-positive at post-exacerbation ('late peri-exacerbation seroconverters'). The anti-D2R antibodies were significantly associated with exacerbations when compared to baseline (McNemar's odds ratio=11, p=0.003) and conditional logistic regression confirmed this association (Z=3.49, p

Providing optimal pain relief is a challenging task when caring for premature infants. The aim of this study was to compare the long-term cognitive, motor, and behavioral outcomes of preterm infants before and after the implementation of a pain and sedation protocol. In addition, we investigated whether the increased opiate administration resulting after the implementation process had an impact on these outcomes. Cognitive outcomes were evaluated using the Kaufman Assessment Battery for Children (KABC), neuromotor examinations were based on Amiel-Tison, and behavioral outcomes were assessed using the parent-reported Child Behavior Checklist (CBCL). One hundred extremely preterm infants were included in the study (control group, n = 53; intervention group, n = 47). No significant differences were found in cognitive and motor outcomes at preschool age. However, every increase in the cumulative opiate exposure for each 100 mg/kg was weakly significantly associated with a higher risk for autism spectrum features (adjusted odds ratio (aOR) = 1.822, 95% confidence interval (CI) [1.231–2.697]; P = 0.03) and withdrawn behavior (aOR = 1.822, 95% CI [1.231–2.697]; P = 0.03) at preschool age. Increased neonatal cumulative opiate exposure did not alter cognitive and motor outcomes but may represent a risk factor for autism spectrum and withdrawn behavior at preschool age.

Tourette syndrome (TS) and early-onset obsessive-compulsive disorder (OCD) are frequently associated and conceptualized as distinct phenotypes of a common disease spectrum. However, the nature of their relationship is still largely unknown on a pathophysiological level. In this study, early structural white matter (WM) changes investigated through diffusion tensor imaging (DTI) were compared across four groups of drug-naïve children: TS-pure (n = 16), TS+OCD (n = 14), OCD (n = 10), and 11 age-matched controls. We analyzed five WM tracts of interest, i.e., cortico-spinal tract (CST), anterior thalamic radiations (ATR), inferior longitudinal fasciculus (ILF), corpus callosum (CC), and cingulum and evaluated correlations of DTI changes to symptom severity. Compared to controls, TS-pure and TS+OCD showed a comparable pattern of increased fractional anisotropy (FA) in CST, ATR, ILF and CC, with FA changes displaying negative correlation to tic severity. Conversely, in OCD, FA decreased in all WM tracts (except for the cingulum) compared to controls and negatively correlated to symptoms. We demonstrate different early WM microstructural alterations in children with TS-pure/TS+OCD as opposed to OCD. Our findings support the conceptualization of TS+OCD as a subtype of TS while suggesting that OCD is characterized by independent pathophysiological mechanisms affecting WM development.

ObjectiveTo assess the reliability, accuracy and precision of distal end-tidal capnography (detCO2) in neonates compared with transcutaneous (tcCO2) carbon dioxide measurements.DesignObservational, prospective clinical study.SettingNeonatal intensive care unit at Medical University of Vienna.ParticipantsConventionally ventilated neonates with a body weight between 1000 g and 3000 g.InterventionEnd-tidal partial pressure of CO2was measured in distal position using the separate lumen of a double-lumen endotracheal tube connected to an external side-stream capnometer. Three consecutive detCO2and tcCO2values were recorded simultaneously and compared with simultaneous arterialised partial pressure of CO2(paCO2) measurements in each patient.Main outcome measuresReliability, accuracy and precision of detCO2and tcCO2measurements compared with paCO2in neonates.ResultsTwenty-five neonates were included with a median (range) weight at enrolment of 1410 (1010–2980) g, from which 81 simultaneous measurements of detCO2, tcCO2and paCO2were obtained. The mean (SD) of paCO2, detCO2and tcCO2was 45.0 (8.6) mmHg, 42.4 (8.4) mmHg and 50.4 (20.4) mmHg, respectively. The intraclass correlation between paCO2and detCO2and between paCO2and tcCO2reached 0.80 (95% CI 0.71 to 0.87, p2with respect to paCO2amounted to −2.68 mmHg and 10.62 mmHg (95% CI 8.49 to 14.51), respectively. Bias and precision of tcCO2with respect to paCO2amounted to 5.39 mmHg and 17.22 mmHg (95% CI 13.21 to 23.34), respectively.ConclusionDetCO2had better reliability, accuracy and precision with paCO2than tcCO2in ventilated neonates without severe lung diseas.Trial registration numberNCT03758313.

Tourette syndrome (TS) and obsessive–compulsive disorder (OCD) are two neurodevelopmental disorders characterized by repetitive behaviors. Our recent study in drug-naive children with TS and OCD provided evidence of cerebellar involvement in both disorders. In addition, cerebellar functional connectivity (FC) was similar in TS patients without comorbidities (TSpure) and TS patients with OCD comorbidity (TS + OCD), but differed in pure OCD patients. To investigate in detail the cerebellar involvement in the pathophysiology of TS and OCD, we explored cerebellar structural and functional abnormalities in drug-naive children with TSpure, TS + OCD, and OCD and assessed possible correlations with severity scores. We examined 53 drug-naive children, classified as TSpure (n = 16), TS + OCD (n = 14), OCD (n = 11), or controls (n = 12). All subjects underwent a multimodal 3T magnetic resonance imaging examination. Cerebellar lobular volumes and quantitative diffusion tensor imaging parameters of cerebellar peduncles were used as measures of structural integrity. The dentate nucleus was selected as a region of interest to examine cerebello-cerebral functional connectivity alterations. Structural analysis revealed that both TSpure and TS + OCD patients had higher fractional anisotropy in cerebellar peduncles than controls. Conversely, OCD patients were characterized by lower fractional anisotropy than both controls and TSpure and TS + OCD patients. Lastly, cerebellar functional connectivity analysis revealed significant alterations in the cerebello-thalamo-cortical circuit in TSpure, TS + OCD, and OCD patients. Early cerebellar structural and functional changes in drug-naive pediatric TSpure, TS + OCD, and OCD patients support a primary role of the cerebellum in the pathophysiology of these disorders.

During the early stages of the coronavirus disease 2019 (COVID-19) pandemic in Italy, an online survey was launched via a local patient advocacy website to investigate mental health issues in children and adolescents with Tourette syndrome (TS). Respondents were parents, who were asked to report on their child's general health, tics, comorbidities/problems, pharmacological treatment/psychotherapy, symptom variations, and daily routine, as well as on their family's health and work experiences during the pandemic. Two hundred thirty-eight people participated in the survey, 203 females and 35 males. Our findings indicate that, in the time window of 4–6 weeks after the beginning of the COVID-19-related lockdown, 67% of individuals with TS developed a relevant worsening of the overall clinical condition as rated by their parents. An improvement or no variation of the clinical picture was reported in 20.5 and 6.7% of cases, respectively. Most worsened symptoms included tics, hyperactivity, rage attacks, obsessions/compulsions, and anxiety. Of the subjects experiencing a clinical worsening, the majority (51.76%) showed variations across two to five symptom domains. No association was found between symptom variation and family demographics or health and economic issues specifically related to the lockdown. The current COVID-19 pandemic is exerting a considerable impact on the mental health of young individuals with TS by worsening both tics and emotional and behavioral symptoms.

Background Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System (CNS) malformations. However, genetics underlying isolated forms is still poorly recognized. Here, we report on two female familial cases with partial ACC. The proband shows isolated partial ACC and a mild neurodevelopmental phenotype. A fetus from a previous interrupted pregnancy exhibited a complex phenotype including partial ACC and the occurrence of a de novo 17q12 microduplication, which was interpreted as probably disease‐causing. Methods A trio‐based clinical exome sequencing (CES) was performed. Results Clinical exome sequencing data analysis led to identifying a heterozygous nonsense variant (NM_139058.3:c.922G>T; NP_620689.1:p.Glu308Ter) in the aristaless related homeobox gene (ARX) in the proband, with a putative de novo occurrence, producing a hypothetical protein lacking two essential domains. Sanger analysis confirmed the wild‐type status of both parents in different tissues, and disclosed the occurrence of the nonsense variant in the fetus of the interrupted pregnancy, suggesting a formerly unrecognized contribution of the ARX mutation to the fetus' phenotype and gonadal or gonadosomatic mosaicism in one of the parents. Conclusion This study describes the phenotype associated with a heterozygous loss of function variant in ARX. Moreover, it highlights the importance of investigating both chromosomal and genetic contributions in cases of complex syndromic phenotypes involving CNS., Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System malformations. However, genetics underlying isolated forms is still poorly recognized. A trio‐based clinical exome sequencing in a family with a recurrence of partial ACC identified a heterozygous nonsense variant (NM_139058.3:c.922G>T; NP_620689.1:p.Glu308Ter) in the aristaless related homeobox gene (ARX) in the proband, with a putative de novo onset. Sanger analysis disclosed the occurrence of the ARX variant in a fetus of a previously interrupted pregnancy, in addition to a de novo 17q12 microduplication, and confirmed the wild‐type status of both parents in different tissues, pointing to a probable gonadal or gonadosomatic mosaicism. This study describes the phenotype associated to a heterozygous loss of function variant in ARX and discusses the role of this variant in a fetus with a severe phenotype and a pathogenic chromosomal rearrangement.

Tourette syndrome (TS) and chronic motor/vocal tic disorder (CTD) are neurodevelopmental conditions defined by the occurrence of multiple tics. Besides the well-known association with attention deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), rage attacks (RA) represent common and detrimental symptoms for patients. Inorder to explore prevalence of RA in tic disorders, relation to tic severity/comorbidities and available treatments, we performed a systematic literature review based on PRISMA Guidelines. 32 studies published between January 2008 – December 2019 were deemed suitable for the analysis and provided a prevalence of 20–67 %. Most findings showed a direct correlation with tic severity and a significant impact on psychosocial functioning. Although apparently related to comorbid ADHD, RA also frequently occur as independent manifestations. Association with other comorbidities, such as OCD, impulse control and mood disorders has also been reported, not yet fully established. Behavioral interventions appear to be effective, whereas there is limited evidence concerning the efficacy of medication. In TS/CTD, RA may be regarded as a major comorbidity that requires clinical investigation in order to develop personalized treatments.

Previous studies in cohorts of Tourette syndrome (TS) or obsessive-compulsive disorder (OCD) patients have not clarified whether these two disorders represent two clinical conditions or they are distinct clinical phenotypes of a common disease spectrum. The study aimed to compare functional connectivity (FC) patterns in a pediatric drug-naive cohort of 16 TS patients without any comorbidity (TS), 14 TS patients with OCD (TS + OCD), and 10 pure OCD patients as well as 11 matched controls that underwent resting state fMRI. Via independent component analysis, we examined FC in the basal ganglia (BGN), sensorimotor (SMN), cerebellum (CBN), frontoparietal (FPN), default-mode (DMN), orbitofrontal (OBFN), and salience (SAN) networks among the above cohorts and their association with clinical measures. Compared to controls, TS and TS + OCD patients showed higher FC in the BGN, SMN, CBN and DMN and lower FC in the FPN and SAN. The TS and TS + OCD groups showed comparable FC in all networks. In contrast to controls, OCD patients exhibited increased FC in the BGN, SMN, CBN, DMN, FPN, and SAN. OCD patients also showed higher FC in CBN and FPN when compared with TS and TS + OCD patients both separately and as one group. Tic severity negatively correlated with FC in CBN and FPN in the TS group, while the compulsiveness scores positively correlated with the same two networks in OCD patients. Our findings suggest common FC changes in TS and TS + OCD patients. In contrast, OCD is characterized by a distinctive pattern of FC changes prominently involving the CBN and FPN.

Background International guidelines recommend the use of item based scales for the assessment of pain and sedation. In our previous study, the implementation of the Neonatal Pain Agitation and Sedation Scale (N-PASS), and the associated systematic assessment and treatment of pain and sedation reduced pain and over-sedation in our intervention group, but lead to a significant increase of individual opiate exposure. This increased opiate exposure was not associated with impaired motor and mental development at one year of age. As one-year follow-up is not necessarily representative for future outcomes, we retested our sample at three years of age. Methods Fifty-three patients after (intervention group) and 61 before implementation (control group) of the N-PASS and the Vienna Protocol for the Management of Neonatal Pain and Sedation (VPNPS), were compared for motor, mental and behavioural development at three-years follow-up using the Bayley Scales of Infant Development. Results Cumulative opiate exposure was not associated with mental (p = .31) and motor (p = .20) problems when controlling for other important medical conditions, but was associated to lower behavioural scores (p = .007). No statistically significant differences were found with regard to mental (p = .65), psychomotor (p = .12) and behavioural (p = .61) development before and after the implementation of the N-PASS and the VPNPS. Conclusion Implementing a neonatal pain and sedation protocol increased opiate exposure without affecting neurodevelopmental outcome at three-years of age.

Tic disorders are neurodevelopmental disorders characterised by the presence of motor or phonic tics, or both. Patients with tic disorders commonly report premonitory urges of tics. Alexithymia is a psychological trait characterised by a difficulty in identifying and expressing one's own feelings and by an externally oriented thinking. We aimed to explore alexithymia in children with tic disorders and in their mothers. Global alexithymia scores of both children with tic disorders and of their mothers did not differ from those of the participants from the control group. In the tic disorder group, however, both children and their mothers showed a cognitive style characterised by operational thinking and a lack of imaginative abilities. The mothers of children with tic disorder reported significantly higher parental stress. Alexithymia was not predictive of tic severity but was predictive of the severity of the premonitory urges. The implications of these findings are discussed.

Objectives: The present study investigated the role of different emotions in the expression of cognitive and motor control abilities of children having Tourette’s syndrome (TS) compared to healthy ...

Introduction Gilles de la Tourette syndrome (GTS) is a childhood-onset neuropsychiatric disorder characterised by multiple tics and often associated with behavioural problems. Although there is evidence of significantly reduced self-esteem in children and adolescents with GTS, little is known about perceived self-concept and its clinical determinants at the transition age between adolescence and adulthood. We therefore set out to investigate self-concept in a clinical sample of young patients with GTS at this crucial age for personal development. Methods In addition to standard demographic and clinical data, we collected self-ratings using a standardised battery of psychometric instruments, as well as the Multidimensional Self Concept Scale, a comprehensive questionnaire developed to assess self-concept in subjects aged 9– to 19 years, tapping into the social, competence, affect, academic, family, and physical domains. Results We found that patients diagnosed with at least one co-morbid psychiatric disorder (“GTS-plus” phenotype) reported significantly lower self-concept than patients with “pure GTS”, whereas tic-related variables had no impact on self-concept. Anxiety symptoms were the main determinants of self-concept, especially trait anxiety with regard to social and affective domains. Affective symptoms could also have a negative impact on the physical, affective, competence, and social domains of self-concept. Conclusion Routine screening for anxiety and affective symptoms should be recommended in all patients with GTS seen at transition clinics from paediatric to adult care, in order to implement effective treatment interventions whenever possible.

Aim The World Health Organization recommends regular simulation training to prevent adverse healthcare events. We used specially trained medical students to provide paediatric simulation training to their peers and assessed feasibility, cost and confidence of students who attended the courses. Methods Students at the Medical University of Vienna, Austria were eligible to participate. Students attended two high-fidelity simulation training sessions, delivered by peers, which were video recorded for evaluation. The attendees then completed questionnaires before and after the training. Associated costs and potential benefits were analysed. Results From May 2013 to June 2015, 152 students attended the sessions and 57 (37.5%) completed both questionnaires. Satisfaction was high, with 95% stating their peer tutor was competent and 90% saying that peer tutors were well prepared. The attendees’ confidence in treating critically ill children significantly improved after training (p

Background and Objectives: Feeding problems occur more frequently among children with Autism spectrum disorder (ASD). The aim of this study was to analyse eating difficulties of ASD children through the direct observation of the caregiver-child co-regulation system. Methods: We compared 60 ASD children with a control group of 50 typically developing Italian children on the Scale for the Assessment of Feeding Interaction (SVIA). The Brief Autism Mealtime Behaviour Inventory (BAMBI) was used to define the presence of an eating disorder. Results: The ASD group showed higher scores on all dimensions of the SVIA compared to the control group. The SVIA and the BAMBI showed significant correlations. In a second step, the ASD sample was divided into two subgroups, children with and without feeding difficulties. The comparison between the ASD subgroups with the control group on the SVIA scales showed significant differences on all dimensions. Finally, significant differences emerged between the two ASD subgroups in three SVIA dimensions. Conclusion: These data suggest the importance of direct observation of feeding in the assessment of children with ASD. The SVIA seems to be able to point out some feeding difficulties in these subjects and to discriminate ASD with and without an eating disorder. Critical aspects of the application of SVIA to autistic children are discussed.

Typically, the inability to control urges tends to be ascribed to a lack of inhibitory control. Primary complex motor stereotypes (p-CMS), occurring in children with an otherwise typical development, represent a remarkable example of involuntary, complex, repetitive and apparently purposeless movements. However, it has never been tested whether the core of the pathophysiology of p-CMS lies in a deficit of inhibitory control. To fill this gap, we assessed whether children with p-CMS exhibit an impairment of one or both types of inhibition, i.e., reactive inhibition (the ability of subjects to react to a stop-signal) and/or proactive inhibition (the ability of subjects to shape their response strategies according to the context in which subjects are embedded). We compared inhibitory control of 20 drug-naive patients with p-CMS (mean age ±SD: 7.4 ± 1.1) with that of 20 age- and gender-matched typically developing children (7.5 ± 1.2) via a reaching version of the stop-signal task. We found that while reactive inhibition is significantly impaired, proactive control in children with p-CMS is similar to that of the control group. The deficit in reactive control might explain why patients are unable to inhibit involuntary movements when triggered by states of mind such as stress, fatigue, boredom or excitement. Nevertheless, the absence of a deficit in proactive control suggests that patients are aware of the environmental context and thus they quickly stop the stereotypic movements when their attention is diverted. All in all, our findings might explain two key features of the p-CMS phenotype.

Background and Aims Recent evidence implicates gut microbiota (GM) and immune alterations in autism spectrum disorders (ASD). We assess GM profile and peripheral levels of immunological, neuronal and bacterial molecules in ASD children and controls. Alarmin HMGB1 was explored as a non-invasive biomarker to monitor gastrointestinal (GI) symptoms. Methods Thirty ASD children and 14 controls entered into the study. GM metagenomic analysis was performed for 16 ASD patients and 7 controls. GM functional profile was assessed by GO term analysis. Blood levels of IL-1β, TNFα, TGFβ, IL-10, INFγ, IL-8, lipopolysaccharide, Neurotensin, Sortilin1 and GSSG/GSH ratio were analyzed in all subjects by ELISA. Fecal HMGB1 was analyzed by Western blot. Results We observed a significant decrease in bacterial diversity. Furthermore, 82 GO terms underrepresented in ASD. Four of them pointed at 3,3 phenylpropionate catabolism and were imputable to Escherichia coli (E. coli) group. Serum levels of TNFα, TGFβ, NT, and SORT-1 increased in ASD patients. Fecal levels of HMGB1 correlated with GI sign severity in ASD children. Conclusions We suggest that a decrease of E. coli might affect the propionate catabolism in ASD. We report occurrence of peripheral inflammation in ASD children. We propose fecal HMGB1 as a non-invasive biomarker to detect GI symptoms.

Aim. Different neuropsychological dysfunctions have been described in children with primary Stereotypic Movement Disorder (SMD), mainly attention or motor coordination problems. Up to now with no study has evaluated psychomotor functions in preschoolers primary SMD. The aim of this observational study was to gather information on the motor profiles of SMD patients in this age range in comparison with typically developing children. Patients and Methods. Twenty-six children (four girls) aged 36 to 76 months (mean= 53 ±10) with primary SMD were assessed by a structured evaluation including the Movement Assessment Battery for Children-Second Edition (MABC-2), the Beery-Buktenica Developmental test of Visual-Motor Integration (VMI), the Repetitive Behaviour Scale-Revised (RBS-R), the Motor Severity Stereotypy Scale (MSSS), and the Child Behaviour Checklist (CBCL). The diagnoses of Intellectual Disability or Autism Spectrum Disorder were exclusion criteria from the study. A comparison group of twenty-seven (four girls) typically developing children without stereotypies aged 36 to 59 months (mean= 48 ±7) was also examined. Results. The MABC–2 total score was lower than 15th percentile in fifteen children with SMD (58%); the worst performances were observed in Balance and Manual Dexterity subtests. The motor coordination score of VMI was lower than 15th percentile in ten children (38%). The majority of the children with low scores at MABC-2 also had low scores at the motor coordination subscale of VMI. MABC-2 standard scores of the clinical group were significantly lower than those of controls on MABC-2 Total, Balance, and Ball Skills subtests. Conclusion. The finding of widespread dysfunction of gross and fine motor abilities in preschoolers with primary SMD seems to delineate a peculiar phenotype and could provide new approaches to the management of this neurodevelopment disorder.

X-linked intellectual disability accounts for 10-12% of cases of cognitive impairment in males. Mutations in IL1RAPL1 are an emerging form of apparently non-syndromic X-linked intellectual disability. We report a 8-year-old intellectually disabled boy with speech delay, and unusual facial and digital anomalies who showed a novel and complex IL1RAPL1 rearrangement. It was defined by two intragenic non-contiguous duplications inherited from the unaffected mother. Chromosome X inactivation study on the mother's blood leukocytes, urinary sediment and buccal swab did not show a significant skewed inactivation. Comparison with previously described patients with IL1RAPL1 disruption was carried. Although data on craniofacial features were scanty in many papers, subtle facial dysmorphism with a thin upper lip seemed a quietly represented picture without any other genotype-phenotype correlations. Our study expands the molecular repertoire of IL1RAPL1 mutations in intellectual disability and points out the need of more accurate clinical descriptions to better define the related phenotype.

Reactive inhibition correlates with the severity of symptoms in paediatric patients with Obsessive-Compulsive Disorder (OCD) though not in those with Tourette syndrome (TS). Here we assessed whether structural alterations in both grey (GM) and white matter (WM) volumes correlate with a measure of reactive inhibition, i.e. the stop-signal reaction time (SSRT), and with clinical scale scores. Nine OCD and 11 TS uncomplicated drug-naive paediatric patients and 12 age-matched controls underwent 3T magnetic resonance imaging scanning. Between-group differences in GM and WM volumes across the whole brain were assessed. Outside the scanner, patients performed a reaching version of the stop-signal task. Both behavioural inhibitory control and neuroimaging measures were normal in TS patients. By contrast, OCD patients exhibited a significant loss in GM volume in five areas. The GM volume of the left inferior frontal gyrus was inversely correlated with the length of the SSRT, the left mid-cingulate gyrus and the right middle frontal gyrus were inversely correlated with the severity of OCD symptoms, and the left insula and the right medial orbitofrontal gyrus were inversely correlated with both. These results indicate that cortical areas showing GM loss in OCD patients are also involved in the network subserving reactive inhibition.

Several studies have shown neuropsychological deficits across multiple domains in attention deficit hyperactivity disorder (ADHD) and specific learning disorder (SLD), but differences and similarities between these disorders have been little considered. We were interested in analyzing the intellectual and executive profiles in a sample of children and adolescents, divided according to the diagnosis into the ADHD group and the SLD group, and in identifying the differences and similarities between these disorders. The sample included two clinical groups: the first included 36 children and adolescents with a diagnosis of ADHD (5-15 years; mean = 9.42; SD = 2.22) while the second included 36 children and adolescents with a diagnosis of SLD (7-15 years; mean = 9.43; SD = 2.25). The WISC-IV was used to measure intellectual ability and the NEPSY-II was employed to measure executive functions. The results showed that the SLD group had significantly higher scores than the ADHD group on the NEPSY-II in the inhibition, cognitive flexibility, short-term verbal memory and verbal working memory domains. The ANCOVA showed differences regarding the FSIQ of WISC-IV, in that the SLD group obtaining higher scores than ADHD group. Findings showed that ADHD children are more impaired than SLD children, in particular in cognitive inhibition, cognitive flexibility, verbal memory, working memory and intellectual functioning. The recognition of the strengths and weaknesses of children and adolescents with ADHD and SLD allows to outline an educational and clinical intervention focused on their specific executive and intellectual functioning.

Objectives Critically ill neonatal and pediatric patients often require central vascular access. Real-time ultrasound guidance for central venous catheterization is beneficial. Because the diameter of central veins is much smaller in neonates than in adults, extensive training is needed to master the visualization and catheterization of central veins in neonates. This study assessed the learning effect of a standardized simulation-based teaching program on ultrasound-guided cannulation in a low-cost cadaver tissue model. Design This simulation-based prospective study assessed physician competence in the ultrasound-guided central venous catheterization procedure. Analyses were conducted before and after the teaching course. Setting Pediatric simulation center at a tertiary care center. Subjects Staff physicians from the Neonatal ICU and PICUs at the Medical University of Vienna. Interventions Two latex tubes, with internal diameters of 2 and 4 mm, were inserted in parallel into cadaver tissue to mimic vessels and create a model for central venous catheterization. Measurements and main results Under ultrasound guidance, each participant attempted to puncture and insert a guide-wire into each of the latex tubes using in-plane and out-of-plane techniques, both before and after the teaching course. The training program was assessed using a questionnaire and a performance checklist. Thirty-nine physicians participated in this study. The rates of failure of guide-wire insertion into 2-mm tubes were significantly lower after than before the teaching course, using both in-plane (p = 0.001) and out-of-plane (p = 0.004) techniques. Teaching, however, did not significantly reduce the insertion failure rate into 4-mm tubes, either in-plane (p = 0.148) or out-of-plane (p = 0.069). The numbers of successful cannulations on the first attempt increased after the teaching in all methods (p = 0.001). Conclusions Implementation of a skills training program for ultrasound-guided central venous catheterization in a cadaver tissue model was feasible and cost- and time-effective. The number of attempts until successful cannulation of small vessels (2-mm tube) was significantly lower after than before the standardized teaching program.

Context: The existing literature on the treatment of pediatric Chronic Tic Disorder (CTD) and Tourette Syndrome (TS) indicates that both Behavioral Therapy (BT) and Pharmaco-Therapy (PT) are effective for reducing symptoms. Objective: to evaluate the efficacy of BT compared to Psycho-Education (PE) or PT for reducing tics and co-occurring symptoms and for improving Quality of Life (QoL) in a sample of youths with CTD and TS. Design: a 10-weeks, 2 sites (Catania, Rome) randomized controlled trial. Participants were randomized to receive one of the following treatments: BT, PE or PT. Participants: 110 outpatients aged between 8-17 years affected by CTD or TS. Results: Patients in the BT and PT groups showed a significant reduction in the severity of tic symptoms, while the PE group did not show any improvement. PT was more effective for reducing obsessive compulsive symptoms than BT, while PE group did not show any improvement. Both BT and PT groups showed an improvement in most QoL domains, whereas no differences were found in the PE group. Conclusions: Behavioral Therapy is as effective as Pharmacological Therapy in the treatment of tic disorders in children and adolescents, thus offering an alternative to medications for CTD and TS.

Objective Misophonia is a condition characterized by the dislike or hatred (miso) of specific sounds (phonia) that results in an extreme emotional response. There has been growing interest in misophonia, with emerging evidence from neurodevelopmental populations and ongoing debate regarding the psychiatric classification and the mechanisms underlying this phenomenon. This is the first article to report on misophonic experiences and associated clinical characteristics in young people with tic disorders. Method In this article, we present the cases of 12 children and young people with tic disorders who have attended clinics in the United Kingdom and Italy who report misophonia. Misophonia was classified as a selective aversive response in accordance with the criteria proposed by Schroder. Results These cases support the view that a range of auditory stimuli may lead to negative/aversive emotional responses of varying degrees, with misophonia seeming to contribute to behavioral reactions. Among these, the most frequent was anger outbursts, followed by an increase in tics, trigger avoidance, repetition of the sound, and self-injurious behavior. No single treatment approach was effective, with some patients responding to cognitive behavioral therapies and others to pharmacological support. Conclusion We postulate that misophonia could be an underestimated causative phenomenon for abrupt emotional dysregulation in individuals with tic disorders and should be considered as part of a comprehensive clinical assessment. This article presents findings of relevance to general discussions regarding the classification of misophonia, as well as the potential relationship between sensory abnormalities and the broader phenotype of tic disorders during development.

Joint hypermobility (JH) is a common, though largely ignored physical trait with increasing clinical reverberations. A few papers suggest a link between JH and selected neurodevelopmental disorders, such as developmental coordination disorder (DCD). JH is also the hallmark of various hereditary connective tissue disorders (HCTDs). Children with HCTDs may present abnormal neurodevelopment but its manifestations remain undetermined. This study examined 23 children (group 1), aged 4-13 years, with different HCTDs (i.e., 19 with hypermobile Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorder, 3 with molecularly confirmed classical EDS, and 1 with Loeys-Dietz syndrome type 1 due to TGFBR2 mutation) and 23, age- and sex-matched children with DCD (group 2). All underwent 14 different psychometric tests exploring motor, cognitive, executive-attentive, and emotional-behavior features. In group 1, 30%, 22%, and 13% patients presented DCD (with or without dysgraphia), learning disabilities, and attention deficit-hyperactivity disorder, respectively. None had cognitive delay. In group 2, 17% patients presented generalized JH and none had HCTDs. DCD children presented more motor and coordination troubles than HCTDs patients, while quality of life of children with HCTDs resulted more deteriorated due to somatic manifestations and behavioral traits. This study presents the full overview of neurodevelopmental attributes in HCTDs, and compares with standardized tools the neurodevelopmental profile of children with DCD and HCTDs. While the high rate of neurodevelopmental comorbidities in HCTDs deserves attention, the impact of a dysfunctional connective tissue in children with a primary diagnosis of DCD needs more research.

This review focuses on facial recognition abilities in children and adolescents with attention deficit hyperactivity disorder (ADHD). A systematic review, using PRISMA guidelines, was conducted to identify original articles published prior to May 2017 pertaining to memory, face recognition, affect recognition, facial expression recognition and recall of faces in children and adolescents with ADHD. The qualitative synthesis based on different studies shows a particular focus of the research on facial affect recognition without paying similar attention to the structural encoding of facial recognition. In this review, we further investigate facial recognition abilities in children and adolescents with ADHD, providing synthesis of the results observed in the literature, while detecting face recognition tasks used on face processing abilities in ADHD and identifying aspects not yet explored.

Chronic tic disorders are neurodevelopmental conditions characterized by the presence of motor and/or phonic tics and often accompanied by co-morbid behavioral problems. Chronic tic disorders can negatively affect the level of functioning of young patients across social and family domains, with possible repercussions on their self-perception. We conducted a systematic literature review to assess the clinical correlates of both components of self-perception (self-concept, i.e. what patients think about themselves, and self-esteem, i.e. how they feel about their self-concept) in patients with chronic tic disorders. Reported levels of self-perception varied widely across studies, partly due to the methodological heterogeneity of the reviewed literature. Poor self-concept and self-esteem appeared to be more strongly related to the presence of psychiatric co-morbidities (especially obsessive-compulsive disorder, attention-deficit and hyperactivity disorder, and anxiety disorders) than to tic severity. Poor peer relationship, social difficulties, as well as problems with parents' acceptance were identified as further risk factors for low self-perception. Finally, the reviewed studies highlighted a link between self-perception and quality of life in patients with chronic tic disorders, alongside the protective role of good social adjustment. This information can therefore assist treating clinicians in the choice of tailored therapeutic interventions for this patient population, including behavioral management techniques that can improve self-concept and self-esteem through increased self-efficacy.

Gilles de la Tourette syndrome (GTS) is characterized by motor and vocal tics and often associated with obsessive-compulsive disorder (OCD). Responses to intermittent/continuous theta-burst stimulation (iTBS/cTBS), which probe long-term potentiation (LTP)-/depression (LTD)-like plasticity in the primary motor cortex (M1), are reduced in GTS. ITBS-/cTBS-induced M1 plasticity can be affected by brain-derived neurotrophic factor (BDNF) polymorphism. We investigated whether the BDNF polymorphism influences iTBS-/cTBS-induced LTP-/LTD-like M1 plasticity in 50 GTS patients and in 50 age- and sex-matched healthy subjects. In GTS patients, motor and psychiatric (OCD) symptom severity was rated using the Yale Global Tic Severity Scale (YGTSS) and the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS). We compared M1 iTBS-/cTBS-induced plasticity in healthy subjects and in patients with GTS. We also compared responses to TBS according to BDNF polymorphism (Val/Val vs Met carriers) in patients and controls. Fourteen healthy subjects and 13 GTS patients were Met carriers. When considering the whole group of controls, as expected, iTBS increased whereas cTBS decreased MEPs. Differently, iTBS/cTBS failed to induce LTP-/LTD-like plasticity in patients with GTS. When comparing responses to TBS according to BDNF polymorphism, in healthy subjects, Met carriers showed reduced MEP changes compared with Val/Val individuals. Conversely, in patients with GTS, responses to iTBS/cTBS were comparable in Val/Val individuals and Met carriers. YGTSS and Y-BOCS scores were comparable in Met carriers and in Val/Val subjects. We conclude that iTBS and cTBS failed to induce LTP-/LTD-like plasticity in patients with GTS, and this was not affected by BDNF genotype.

Gilles de la Tourette syndrome is characterized by motor/vocal tics commonly associated with psychiatric disorders, including obsessive-compulsive disorder. We investigated primary motor cortex and brainstem plasticity in Tourette patients, exposed and unexposed to chronic drug treatment, with and without psychiatric disturbances. We also investigated primary motor cortex and brainstem plasticity in obsessive-compulsive disorder. We studied 20 Tourette patients with and without psychiatric disturbances, 15 with obsessive-compulsive disorder, and 20 healthy subjects. All groups included drug-naive patients. We conditioned the left primary motor cortex with intermittent/continuous theta-burst stimulation and recorded motor evoked potentials. We conditioned the supraorbital nerve with facilitatory/inhibitory high-frequency stimulation and recorded the blink reflex late response area. In healthy subjects, intermittent theta-burst increased and continuous theta-burst stimulation decreased motor evoked potentials. Differently, intermittent theta-burst failed to increase and continuous theta-burst stimulation failed to decrease motor evoked potentials in Tourette patients, with and without psychiatric disturbances. In obsessive-compulsive disorder, intermittent/continuous theta-burst stimulation elicited normal responses. In healthy subjects and in subjects with obsessive-compulsive disorder, the blink reflex late response area increased after facilitatory high-frequency and decreased after inhibitory high-frequency stimulation. Conversely, in Tourette patients, with and without psychiatric disturbances, facilitatory/inhibitory high-frequency stimulation left the blink reflex late response area unchanged. Theta-burst and high-frequency stimulation elicited similar responses in drug-naive and chronically treated patients. Tourette patients have reduced plasticity regardless of psychiatric disturbances. These findings suggest that abnormal plasticity contributes to the pathophysiology of Gilles de la Tourette syndrome. However, obsessive-compulsive disorder patients have normal cortical and brainstem plasticity. © 2014 International Parkinson and Movement Disorder Society