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Purpose: The service configuration with distinct child and adolescent mental health services (CAMHS) and adult mental health services (AMHS) may be a barrier to continuity of care. Because of a lack of transition policy, CAMHS clinicians have to decide whether and when a young person should transition to AMHS. This study describes which characteristics are associated with the clinicians’ advice to continue treatment at AMHS. Methods: Demographic, family, clinical, treatment, and service-use characteristics of the MILESTONE cohort of 763 young people from 39 CAMHS in Europe were assessed using multi-informant and standardized assessment tools. Logistic mixed models were fitted to assess the relationship between these characteristics and clinicians’ transition recommendations. Results: Young people with higher clinician-rated severity of psychopathology scores, with self- and parent-reported need for ongoing treatment, with lower everyday functional skills and without self-reported psychotic experiences were more likely to be recommended to continue treatment. Among those who had been recommended to continue treatment, young people who used psychotropic medication, who had been in CAMHS for more than a year, and for whom appropriate AMHS were available were more likely to be recommended to continue treatment at AMHS. Young people whose parents indicated a need for ongoing treatment were more likely to be recommended to stay in CAMHS. Conclusion: Although the decision regarding continuity of treatment was mostly determined by a small set of clinical characteristics, the recommendation to continue treatment at AMHS was mostly affected by service-use related characteristics, such as the availability of appropriate services.

Background: It has long been debated whether in Williams syndrome (WS) there is a preferential processing of local with respect to global forms, in contrast to the typical ‘global advantage’ in healthy individuals, which in WS seems to exist only for faces. Aims: We aimed at verifying it and to assess the role of stimulus familiarity by comparing performances with faces to those with other objects using the same type of task. Methods and procedure: A group of children and adolescents with WS and controls with typical development performed a modified version of three tasks: Mooney (with faces and/or guitars), Jane (with faces and houses) and Navon task. Outcomes and results: Individuals with WS were able to process at a global level not only faces but also objects, although they were impaired when they had to compare or discriminate between two stimuli. All groups showed an advantage for global processing, with familiarity improving it. However, WS participants did not benefit from familiarity as much as typically developing young individuals. Conclusions and implications: Peculiar abilities for face stimuli in WS did not emerge nor did a clear facilitation related to object familiarity. These results are useful for planning effective interventions.

Emerging evidence suggests that the combination of transcranial direct current stimulation (tDCS) and reading training may provide promising benefits for dyslexia; however, the clinical effects and the role of individual differences in tDCS outcomes for dyslexia remain unclear. To this end, the present study investigated the effects of tDCS on clinically relevant reading measures and examined factors (i.e. reading at baseline, age, and intelligence quotient [IQ]) that may contribute to improvements following tDCS treatment. Our results showed that, in terms of word reading fluency, the percentage of responders in the active tDCS group was higher than that in the sham tDCS group. Linear mixed effects models showed that the effect of tDCS and reading training tasks on word reading fluency depended on reading at baseline with age and IQ. Thus, the present study provides research-based selection criteria for potential responders to tDCS and encourages tailored intervention based on individual characteristics.

In recent years, there has been an explosive increase in genetic studies related to autism spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular data that may be used to verify various hypotheses and models developed to explore the complex genetic component of ASD. Several lines of evidence support the view that structural genomic variation contributes to the pathogenesis of ASD. The introduction of more sophisticated techniques for whole-genome screening, including array comparative genome hybridization and high-resolution single nucleotide polymorphism analysis, has allowed to identify an increasing number of ASD susceptibility loci. Copy number variants (CNVs) are the most common type of structural variation in the human genome and are considered important contributors to the pathogenesis of neurodevelopmental disorders, including ASD. In this review, we describe the accumulated evidence concerning the genetic events associated with ASD, and summarize current knowledge about the clinical relevance of CNVs in these disorders.

Autism spectrum disorder (ASD) is characterized by psychiatric and behavioral comorbidities. The Child Behavior Checklist (CBCL) provides valid and well-established measures of emotional, behavioral, and social problems in children and adolescents. The aim of the present study was to verify whether emotional, behavioral, and social problems were modulated by ASD symptom severity, cognitive development, gender, and age by analyzing the CBCL in a large group of children and adolescents with ASD. The results show that around 30% of participants with ASD exhibited internalizing problems and only 6% externalizing problems, with males exhibiting more internalizing problems than females. No correlation was found between CBCL scores and indices of ASD severity. However, higher CBCL Total Problems scores were found in older children and in children with lower cognitive abilities. The detection of behavioral and emotional problems allows children with ASD to undergo specific and individualized treatment that takes into account their psychopathological problems.

BACKGROUND: The neurobehavioral phenotype of 22q11.2 deletion syndrome (22q11DS) includes cognitive dysfunction and high rates of psychotic symptoms and schizophrenia. Existing research has mainly considered changes in IQ, especially its decline, as a psychosis predictor. The aim of this study was to investigate, in a longitudinal perspective, the relationship between neuropsychological abilities (not only IQ but also executive functioning, language and visual-motor integration abilities) and onset of psychotic symptoms in a sample of children, adolescents and young adults with 22q11DS. In addition, the role of comorbid psychiatric disorders at baseline was taken into account. METHODS: 75 participants with 22q11DS, aged between 6 and 27 years at baseline, were included. Eighteen of the 75 participants had developed psychosis at the one year follow-up (onset psychosis-OP) and constituted the first group; 57 participants who had not developed a psychosis at the one year follow-up (without onset psychosis-WOP) constituted the second group. RESULTS: At baseline, group OP showed lower IQ (both full scale and verbal and performance scale) and more perseverative errors as well as a reduced number of correct categories on the Wisconsin Card Sorting Test (WCST) compared to group WOP. In addition, at baseline, group OP showed a higher frequency of depressive disorders than group WOP. CONCLUSION: Even if with caution, results suggest neuropsychological deficits and depressive symptoms should be considered and monitored as possible clinical signs for the onset of psychosis in children, adolescents and young adults with 22q11DS.

skills may be learned by active experience (experiential learning or learning by doing) or by observation of others’ experience (learning by observation). In general, learning by observation reduces the time and the attempts needed to learn complex actions and behaviors. The present research aimed to compare learning by observation and learning by doing in two clinical populations with different etiology of intellectual disability (ID), as individuals with Down syndrome (DS) and individuals with Williams syndrome (WS), with the hypothesis that specific profiles of learning may be found in each syndrome. To this end, we used a mixture of new and existing data to compare the performances of 24 individuals with DS, 24 individuals with WS and 24 typically developing children on computerized tasks of learning by observation or learning by doing. The main result was that the two groups with ID exhibited distinct patterns of learning by observation. Thus, individuals with DS were impaired in reproducing the previously observed visuo-motor sequence, while they were as efficient as TD children in the experiential learning task. On the other hand, individuals with WS benefited from the observational training while they were severely impaired in detecting the visuo-motor sequence in the experiential learning task (when presented first). The present findings reinforce the syndrome-specific hypothesis and the view of ID as a variety of conditions in which some cognitive functions are more disrupted than others because of the differences in genetic profile and brain morphology and functionality. These findings have important implications for clinicians, who should take into account the genetic etiology of ID in developing learning programs for treatment and education.

Poor treatment outcomes are available for anorexia nervosa (AN) and treatment innovations are urgently needed. Recently, non-invasive neuromodulation tools have suggested to have potential for reducing an symptomatology targeting brain alterations. The objective of the study was to verify whether left anodal/right cathodal prefrontal cortex transcranial direct current stimulation (tDCS), may aid in altering/resetting inter-hemispheric balance in patients with AN, re-establishing control over eating behaviors. Twenty-three adolescents with an underwent a treatment as usual (AU), including nutritional, pharmacological, and psychoeducational treatment, plus 18 sessions of tDCS (TDCS+AU = n11; mean age = 13.9, SD = 1.8 years) or a family based therapy (FBT+AU = n12, mean age = 15.1, SD = 1.5 years). Psychopathological scales and the body mass index (BMI) were assessed before and after treatment. After 6 weeks of treatment, the BMI values increased only in the tDCS group, even at 1-month follow-up. Independently of the treatment, all participants improved in several psychopathological measures, included AN psychopathology and mood and anxiety symptoms. Our results demonstrated for the first time a specific effect of the left anodal/right cathodal tDCS treatment protocol on stable weight gain and a superiority compared to an active control treatment for adolescents with AN. Results were interpreted as a possible direct/indirect effect of tDCS in into some pathophysiological mechanisms of AN, involving the mesocortical dopaminergic pathways and the promotion of food intake. This pilot study opens new perspectives in the treatment of an in adolescence, supporting the targeted and beneficial effects of a brain-based treatment.

Ventral and dorsal streams are visual pathways deputed to transmit information from the photoreceptors of the retina to the lateral geniculate nucleus and then to the primary visual cortex (V1). Several studies investigated whether one pathway is more vulnerable than the other during development, and whether these streams develop at different rates. The results are still discordant. The aim of the present study was to understand the functionality of the dorsal and the ventral streams in two populations affected by different genetic disorders, Noonan syndrome (NS) and 22q11.2 deletion syndrome (22q11.2DS), and explore the possible genotype–phenotype relationships. ‘Form coherence’ abilities for the ventral stream and ‘motion coherence’ abilities for the dorsal stream were evaluated in 19 participants with NS and 20 participants with 22q11.2DS. Collected data were compared with 55 age-matched controls. Participants with NS and 22q11.2DS did not differ in the form coherence task, and their performance was significantly lower than that of controls. However, in the motion coherence task, the group with NS and controls did not differ, and both obtained significantly higher scores than the group with 22q11.2DS. Our findings indicate that deficits in the dorsal stream are related to the specific genotype, and that in our syndromic groups the ventral stream is more vulnerable than the dorsal stream.

The aim of the present study is to evaluate the current psychopathological problems of different forms associated with maltreatment on children's and adolescents' mental health. Ninety-five females and ninety males with a mean age of 8.8 years who have suffered in the last six months different forms of abuse (physical, sexual, and emotional) and neglect were included in the study. The current reaction to trauma as directly observed by clinical instruments was examined. Differences in gender, age at the time of medical examination, familial psychiatric disorders, neuropsychiatric status, and type of maltreatment were also taken into account. Results documented that 95.1% of abused children and adolescents developed a psychiatric disorder or a subclinical form of a Posttraumatic Stress Disorder (PTSD). Moreover, our data demonstrate a role for gender, age, and familial psychiatric comorbidity in the current psychopathological problems associated with maltreatment. Overall, our findings can help clinicians make a diagnosis and provide efficient treatment and prevention strategies for child maltreatment and abuse.

Purpose: There is evidence that non-invasive brain stimulation transitorily modulates reading by facilitating the neural pathways underactive in individuals with dyslexia. The study aimed at investigating whether multiple sessions of transcranial direct current stimulation (tDCS) would enhance reading abilities of children and adolescents with dyslexia and whether the effect is long-lasting. Methods: Eighteen children and adolescents with dyslexia received three 20-minute sessions a week for 6 weeks (18 sessions) of left anodal/right cathodal tDCS set at 1mA over parieto-temporal regions combined with a cognitive training. The participants were randomly assigned to the active or the sham treatment; reading tasks (text, high and low frequency words, non-words) were used as outcome measures and collected before treatment, after treatment and one month after the end of treatment. The tolerability of tDCS was evaluated. Results: The active group showed reduced low frequency word reading errors and non-word reading times. These positive effects were stable even one month after the end of treatment. None reported adverse effects. Conclusions: The study shows preliminary evidence of tDCS feasibility and efficacy in improving non-words and low frequency words reading of children and adolescents with dyslexia and it opens new rehabilitative perspectives for the remediation of dyslexia.

Studies have shown that persons with Down syndrome (DS) exhibit relatively poor language capacities, and impaired verbal and visuoperceptual memory, whereas their visuospatial memory capacities appear comparatively spared. Individuals with DS recall better where an object was previously seen than what object was previously seen. However, most of the evidence concerning preserved visuospatial memory comes from tabletop or computerized experiments which are biased toward testing egocentric (viewpoint-dependent) spatial representations. Accordingly, allocentric (viewpoint-independent) spatial learning and memory capacities may not be necessary to perform these tasks. Thus, in order to more fully characterize the spatial capacities of individuals with DS, allocentric processes underlying real-world navigation must also be investigated. We tested 20 participants with DS and 16 mental age-matched, typically developing (TD) children in a real-world, allocentric spatial (AS) memory task. During local cue (LC) trials, participants had to locate three rewards marked by local color cues, among 12 locations distributed in a 4 m × 4 m arena. During AS trials, participants had to locate the same three rewards, in absence of LCs, based on their relations to distal environmental cues. All TD participants chose rewarded locations in LC and AS trials at above chance level. In contrast, although all but one of the participants with DS exhibited a preference for the rewarded locations in LC trials, only 50% of participants with DS chose the rewarded locations at above chance level in AS trials. As a group, participants with DS performed worse than TD children on all measures of task performance. These findings demonstrate that individuals with DS are impaired at using an AS representation to learn and remember discrete locations in a controlled environment, suggesting persistent and pervasive deficits in hippocampus-dependent memory in DS.

Writing is a complex task that requires the integration of multiple cognitive, linguistic, and motor abilities. Until now, only a few studies investigated writing abilities in individuals with Intellectual Disability (ID). The aim of the present exploratory study was to provide knowledge on the organization of writing in two populations with ID, Down syndrome (DS) and Williams syndrome (WS), trying to disentangle different components of the process.A battery tapping diverse writing demands as low-level transcription skills as well as high-level writing skills was proposed to 13 individuals with WS, 12 individuals with DS and 11 mental-age-matched typically developing (TD) children.Results showed that the two groups with genetic syndromes did not differ from TD in writing a list of objects placed in bedroom, in the number of errors in the text composition, in a text copying task and in kind of errors made. However, in a word dictation task, individuals with DS made more errors than individuals with WS and TD children. In a pseudoword dictation task, both individuals with DS and WS showed more errors than TD children.Our results showed good abilities in individuals with ID in different aspects of writing, involving not only low-level transcription skills but also high-level composition skills.Contrary to the pessimistic view, considering individuals with ID vulnerable for failure, our results indicate that the presence of ID does not prevent the achievement of writing skills.

Costello syndrome (CS) is a rare genetic disorder caused, in the majority of cases, by germline missense HRAS mutations affecting Gly12 promoting enhanced signaling through the MAPK and PI3K-AKT signaling cascades. In general, the cognitive profile in CS is characterized by intellectual disability ranging from mild to severe impairment. The first published descriptions of behavior in CS children underlined the presence of irritability and shyness at younger ages with sociable personality and good empathic skills after 4-5 years of age, however some recent studies have reported autistic traits. We report on a 7-year-old boy heterozygous for a rare duplication of codon 37 (p.E37dup) in HRAS, manifesting impaired social interaction and non-verbal communication and with circumscribed interests. These additional features improve phenotype delineation in individuals with rare HRAS mutations, facilitating the development of specific behavioral treatments which could lead to improvement in cases of autism spectrum disorder.

Effective task switching is supported by the inhibition of the just executed task, so that potential interference from previously executed tasks is adaptively counteracted. This inhibitory mechanism, named Backward Inhibition (BI), has been inferred from the finding that switching back to a recently executed task (A-B-A task sequence) is harder than switching back to a less recently executed task (C-B-A task sequence). Despite the fact that BI effects do impact performance on everyday life activities, up to now it is still not clear whether the BI represents an amodal and material-independent process or whether it interacts with the task material. To address this issue, a group of individuals with Williams syndrome (WS) characterized by specific difficulties in maintaining and processing visuo-spatial, but not verbal, information, and a mental age-and gender-matched group of typically developing (TD) children were subjected to three task-switching experiments requiring verbal or visuo-spatial material to be processed. Results showed that individuals with WS exhibited a normal BI effect during verbal task-switching, but a clear deficit during visuo-spatial task-switching. Overall, our findings demonstrating that the BI is a material-specific process have important implications for theoretical models of cognitive control and its architecture.

Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. Here we describe four patients with atypical WBS 7q11.23 deletions. Two carry ∼3.5 Mb larger deletion towards the telomere that includes Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxigenase activation protein gamma (YWHAG) genes. Other two carry a shorter deletion of ∼1.2 Mb at centromeric side that excludes the distal WBS genes BAZ1B and FZD9. Along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of HIP1 and YWHAG might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of BAZ1B and FZD9 genes may be related to mild facial features and moderate neuropsychological deficits. This report highlights the importance to characterize additional patients with 7q11.23 atypical deletions comparing neuropsychological and clinical features between these individuals to shed light on the pathogenic role of genes within and flanking the WBS region. © 2014 Macmillan Publishers Limited.

The present study was aimed at investigating different aspects of Executive Functions (EF) in children with Developmental Dyslexia (DD). A neuropsychological battery tapping verbal fluency, spoonerism, attention, verbal shifting, short-term and working memory was used to assess 60 children with DD and 65 with typical reading (TR) abilities. Compared to their controls, children with DD showed deficits in several EF domains such as verbal categorical and phonological fluency, visual-spatial and auditory attention, spoonerism, verbal and visual short-term memory, and verbal working memory. Moreover, exploring predictive relationships between EF measures and reading, we found that spoonerism abilities better explained word and non-word reading deficits. Although to a lesser extent, auditory and visual-spatial attention also explained the increased percentage of variance related to reading deficit. EF deficits found in DD are interpreted as an expression of a deficient functioning of the Central Executive System and are discussed in the context of the recent temporal sampling theory. © 2014 Varvara, Varuzza, Sorrentino, Vicari and Menghini.