GLUT1DS focus on dysarthria.

RESEARCH PURPOSE: GLUT1 deficiency syndrome (GLUT1DS) is a rare genetic disorder caused by a mutation in the SLC2A1 gene that limits the transport of glucose across the blood-brain barrier. Speech disorders and dysarthria are typical findings in patients with GLUT1DS, but have never been deeply phenotyped. The aim of the present study was to characterize speech abilities in a sample of patients with GLUT1DS. RESULTS: 30 patients with GLUT1DS were recruited. We reported impairments in different speech and oromotor domains: the speech was characterized by dysarthria, inaccurate articulation of consonants, abnormal nasal resonance, errors in intonation and prosody and low intelligibility. We observed difficulties in motor planning and programming. Moreover, we observed a significant difference between the dysarthric level of impairment with genotype groups. CONCLUSIONS: The presence of a speech disorder in patients with GLUT1DS represents a core feature of the syndrome. Our findings suggest that patients with GLUT1DS would benefit from a comprehensive neurocognitive assessment to detect strengths and weaknesses of the speech profile. Understanding the speech and language phenotype in GLUT1DS is critical for planning early intervention to positively influence the global development of patients with GLUT1DS.

New perspectives on the role of biological factors in anorexia nervosa: Brain volume reduction or oxidative stress, which came first?

Anorexia nervosa (AN) is an eating disorder (ED) that has seen an increase in its incidence in the last thirty years. Compared to other psychosomatic disorders, ED can be responsible for many major medical complications, moreover, in addition to the various systemic impairments, patients with AN undergo morphological and physiological changes affecting the cerebral cortex. Through immunohistochemical studies on portions of postmortem human brain of people affected by AN and healthy individuals, and western blot studies on leucocytes of young patients and healthy controls, this study investigated the role in the afore-mentioned processes of altered redox state. The results showed that the brain volume reduction in AN could be due to an increase in the rate of cell death, mainly by apoptosis, in which mitochondria, main cellular organelles affected by a decreased dietary intake, and a highly compromised intracellular redox balance, may play a pivotal role.

The lived experience of mental disorders in adolescents: a bottom-up review co-designed, co-conducted and co-written by experts by experience and academics.

We provide here the first bottom-up review of the lived experience of mental disorders in adolescents co-designed, co-conducted and co-written by experts by experience and academics. We screened first-person accounts within and outside the medical field, and discussed them in collaborative workshops involving numerous experts by experience - representing different genders, ethnic and cultural backgrounds, and continents - and their family members and carers. Subsequently, the material was enriched by phenomenologically informed perspectives and shared with all collaborators. The inner subjective experience of adolescents is described for mood disorders, psychotic disorders, attention-deficit/hyperactivity disorder, autism spectrum disorders, anxiety disorders, eating disorders, externalizing disorders, and self-harm behaviors. The recollection of individuals' past histories also indexes the prodromal (often transdiagnostic) features predating the psychiatric diagnosis. The experience of adolescents with mental disorders in the wider society is described with respect to their family, their school and peers, and the social and cultural context. Furthermore, their lived experience of mental health care is described with respect to receiving a diagnosis of mental disorder, accessing mental health support, receiving psychopharmacological treatment, receiving psychotherapy, experiencing peer support and mental health activism, and achieving recovery. These findings can impact clinical practice, research, and the whole society. We hope that this co-designed, co-conducted and co-written journey can help us maintain our commitment to protecting adolescents' fragile mental health, and can help them develop into a healthy, fulfilling and contributing adult life.

Family functioning of adolescents with restrictive eating disorders with or without nonsuicidal self-injury.

Family influence is a crucial factor in the onset and maintenance of eating disorders. Nonsuicidal self-injury (NSSI) and restrictive eating disorders (REDs) co-occur in a significant percentage of subjects but family functioning of these families remains underexplored. This study examines the family functioning perceptions of 80 families with adolescents experiencing RED, comparing those with and without NSSI, alongside a control group, utilising the FACES-IV assessment. The study also aims to compare the triadic (adolescent-mother-father) perception of family functioning in the three groups. The results reveal distinct family dynamics in adolescents with both RED and NSSI, marked by problematic functioning perceptions from all family members and low parental agreement. A further understanding of the family functioning of adolescents with RED with NSSI can help clinicians in defining the treatment setting.

The impact of family alexithymia on the severity of restrictive eating disorders in adolescent patients.

BACKGROUND: Alexithymia is the inability to identify and describe one's own emotions. Adolescents who suffer from Restrictive Eating Disorders (REDs) show a higher prevalence of alexithymia than the general population. METHODS: The study explored the correlation between levels of alexithymia in mothers, fathers, and adolescents affected by REDs and patients' ability to recognize their emotions. The study also aimed to evaluate if patients' emotional distress can significantly impact the severity of their disorder and functioning measured by the Clinical Global Impression Scale - Severity (CGI-S) and the Children's Global Assessment Scale (CGAS). We enrolled 67 families of adolescents affected by REDs. Parents and patients' levels of alexithymia were assessed through the Toronto Alexithymia Scale (TAS-20). Spearman's correlation shows a statistically significant correlation between mothers and patients' levels of alexithymia. RESULTS: Our findings also suggest that fathers and mothers' TAS scores correlate with each other. However, there is no statistically significant relationship between the influence of the TAS scores of fathers and sons/daughters. CONCLUSIONS: In conclusion, mothers' level of alexithymia could influence both fathers and patients' difficulty in identifying and describing their own emotions. This relationship can be investigated further when considering externally oriented thinking. However, the severity of the disease and overall functioning do not appear to be affected by patients' levels of alexithymia.

SNAP-25 Polymorphisms in Autism Spectrum Disorder: A Pilot Study towards a Possible Endophenotype.

While there is substantial agreement on the diagnostic criteria for autism spectrum disorder, it is also acknowledged that it has a broad range of clinical presentations. This can complicate the diagnostic process and aggravate the choice of the most suitable rehabilitative strategy for each child. Attentional difficulties are among the most frequently reported comorbidities in autism spectrum disorder. We investigated the role of SNAP-25 polymorphisms. Synaptosome-associated protein 25 (SNAP25) is a presynaptic membrane-binding protein; it plays a crucial role in neurotransmission and has already been studied in numerous psychiatric disorders. It was also seen to be associated with hyperactivity in children with autism spectrum disorder. We collected clinical, behavioral and neuropsychological data on 41 children with a diagnosis of autism spectrum disorder, and then genotyped them for five single-nucleotide polymorphisms of SNAP-25. Participants were divided into two groups according to the Autism Diagnostic Observation Schedule (ADOS-2) Severity Score. In the group with the highest severity score, we found significant associations of clinical data with polymorphism rs363050 (A/G): children with the GG genotype had lower total IQ, more severe autistic functioning and more attentional difficulties. Our research could be the starting point for outlining a possible endophenotype among patients with autism spectrum disorder who are clinically characterized by severe autistic functioning and significant attentional difficulties.

Multiphasic Personality Assessment in a Case Series of Adolescent Patients with Suicidal Ideation and/or Attempts.

Suicide is an important public health issue. To examine the differences in personality characteristics between a group of adolescents with suicidal ideation (SI) and a group with a history of suicidal attempts (SA), we conducted a cross-sectional study. We enrolled 55 adolescents (51 females; 12-18 y.o.) who presented SI and/or SA. Using the Columbia Suicide Severity Rating Scale, we divided the sample into two groups: adolescents with SI and adolescents with SA. All participants filled in the Minnesota Multiphasic Personality Inventory-Adolescent (MMPI-A). Adolescents in the SA group had greater difficulties in social relations, risky behaviors, and more intense suicidal ideation compared to those in the SI group. Adolescents in the SA group scored higher in Omission, in the Lie Scale, the Conduct Problem Scale, the Less Aspirations Scale, the Repression Scale in the MMPI-A, and item 283 of the MAST compared to the other group. The results suggest that using the MMPI-A to assess certain features (e.g., tendency to lie, repression) may be helpful in identifying young people who are at high risk of suicide. However, further research is required to determine the effectiveness of using this instrument.

The Role of SNAP-25 in Autism Spectrum Disorders Onset Patterns.

Autism spectrum disorders (ASD) can present with different onset and timing of symptom development; children may manifest symptoms early in their first year of life, i.e., early onset (EO-ASD), or may lose already achieved skills during their second year of life, thus showing a regressive-type onset (RO-ASD). It is still controversial whether regression represents a neurobiological subtype of ASD, resulting from distinct genetic and environmental causes. We focused this study on the 25 kD synaptosomal-associated protein (SNAP-25) gene involved in both post-synaptic formation and adhesion and considered a key player in the pathogenesis of ASD. To this end, four single nucleotide polymorphisms (SNPs) of the SNAP-25 gene, rs363050, rs363039, rs363043, and rs1051312, already known to be involved in neurodevelopmental and psychiatric disorders, were analyzed in a cohort of 69 children with EO-ASD and 58 children with RO-ASD. Both the rs363039 G allele and GG genotype were significantly more frequently carried by patients with EO-ASD than those with RO-ASD and healthy controls (HC). On the contrary, the rs1051312 T allele and TT genotype were more frequent in individuals with RO-ASD than those with EO-ASD and HC. Thus, two different SNAP-25 alleles/genotypes seem to discriminate between EO-ASD and RO-ASD. Notably, rs1051312 is located in the 3' untranslated region (UTR) of the gene and is the target of microRNA (miRNA) regulation, suggesting a possible epigenetic role in the onset of regressive autism. These SNPs, by discriminating two different onset patterns, may represent diagnostic biomarkers of ASD and may provide insight into the different biological mechanisms towards the development of better tailored therapeutic and rehabilitative approaches.

Framing the work: A coparenting model for guiding infant mental health engagement with families.

When working with families of infants and toddlers, intentionally looking beyond dyadic child-parent relationship functioning to conceptualize the child's socioemotional adaptation within their broader family collective can enhance the likelihood that clinical gains will be supported and sustained. However, there has been little expert guidance regarding how best to frame infant-family mental health therapeutic encounters for the adults responsible for the child's care and upbringing in a manner that elevates their mindfulness about and their resolve to strengthen the impact of their coparenting collective. This article describes a new collaborative initiative organized by family-oriented infant mental health professionals across several different countries, all of whom bring expansive expertise assessing and working with coparenting and triangular family dynamics. The Collaborative's aims are to identify a means for framing initial infant mental health encounters and intakes with families with the goal of assessing and raising family consciousness about the relevance of coparenting. Initial points of convergence and growing points identified by the Collaborative for subsequent field study are addressed.

Cuando se trabaja con familias de infantes y niños pequeñitos, el mirar intencionalmente más allá del funcionamiento de la relación diádica niño-progenitor para conceptualizar la adaptación socioemocional del niño dentro de la amplitud del colectivo familiar puede mejorar la posibilidad de que los logros clínicos sean apoyados y mantenidos. Sin embargo, ha habido poca guía de expertos acerca de cómo enmarcar mejor los encuentros terapéuticos infante-familia de salud mental para los adultos que son responsables del cuidado y crianza del niño de una manera que se eleve su estado consciente acerca de y su determinación de reforzar el impacto del colectivo en el proceso de la crianza compartida. Este artículo describe una nueva iniciativa colaborativa organizada por profesionales de la salud mental infantil orientados hacia la familia en varios diferentes países, todos los cuales aportan su conocimiento amplio evaluando y trabajando con las dinámicas familiares de crianza compartida y triangular. Las metas de este esfuerzo Colaborativo son identificar un medio para enmarcar los encuentros y la proporción de salud mental infantil con familias que se proponen evaluar y crear consciencia familiar acerca de la relevancia de la crianza compartida. Se abordan los puntos iniciales de convergencia y puntos de crecimiento identificados por el esfuerzo Colaborativo para subsecuentes estudios en el campo.

En travaillant avec des familles de nourrissons et de petits enfants, le fait de regarder délibérément au- delà du fonctionnement de la relation dyadique enfant-parent afin de conceptualisation l'adaptation socio émotionnelle de l'enfant, au sein de leur collectif familial plus large, peut accroître la probabilité que les gains cliniques seront bien soutenus et prolongés. Cependant il y a eu peu de directive experte concernant la meilleure manière d'encadrer les rencontres thérapeutiques nourrisson-famille de santé mentale pour les adultes responsables du soin de l'enfant et de son éducation d'une manière qui élève la pleine conscience et la détermination qu'il y a à renforcer l'impact de leur coparentage collectif. Cet article décrit une nouvelle initiative collaborative organisée par des professionnels de la santé mentale du nourrisson centrés sur la famille au travers de plus pays différents, tous étant de grands experts évaluant et travaillant avec des dynamiques de coparentage et de famille triangulaire. Les buts de cette collaboration sont d'identifier un moyen d'encadrer des rencontres de santé mentale initiales et les apports des familles avec le but d'évaluer et d'améliorer la conscience de la famille quant à la pertinence du coparentage. Les premiers points de convergence et de développement identifiés par la collaboration pour des études sur le terrain à venir sont discutés.

Magnetic resonance advanced imaging analysis in adolescents: cortical thickness study to identify attenuated psychosis syndrome.

PURPOSE: Psychosis is a symptom common to several mental illnesses and a defining feature of schizophrenia spectrum disorders, whose onset typically occurs in adolescence. Neuroradiological studies have reported evidence of brain structural abnormalities in patients with overt psychosis. However, early identification of brain structural changes in young subjects at risk for developing psychosis (such as those with Attenuated Psychosis Syndrome -APS) is currently lacking. METHODS: Brain 3D T1-weighted and 64 directions diffusion-weighted images were acquired on 55 help-seeking adolescents (12-17 years old) with psychiatric disorders who referred to our Institute. Patients were divided into three groups: non-APS (n = 20), APS (n = 20), and Early-Onset Psychosis (n = 15). Cortical thickness was calculated from T1w images, and Tract-Based Spatial Statistics analysis was performed to study the distribution of white matter fractional anisotropy and all diffusivity metrics. A thorough neuropsychological test battery was adopted to investigate cognitive performance in several domains. RESULTS: In patients with Attenuated Psychotic Syndrome, the left superior frontal gyrus was significantly thinner compared to patients with non-APS (p = 0.048), and their right medial orbitofrontal cortex thickness was associated with lower working memory scores (p = 0.0025, r = -0.668 for the working memory index and p = 0.001, r = -0.738 for the digit span). Early-Onset Psychosis patients showed thinner left pars triangularis compared to non-APS individuals (p = 0.024), and their left pars orbitalis was associated with impaired performance at the symbol search test (p = 0.005, r = -0.726). No differences in diffusivity along main tracts were found between sub-groups (p > 0.05). CONCLUSION: This study showed specific associations between structural imaging features and cognitive performance in patients with APS. Characterizing this disorder using neuroimaging could reveal useful information that may aid in the development and evaluation of preventive strategies in these individuals.

Only an inkblot? A literature review of the neural correlates of the Rorschach inkblot test.

The Rorschach inkblot test allows access to psychological processes that usually do not emerge in self-report measures and it has been widely used in clinical psychological and psychiatric settings. Recordings of brain activity during the administration of the Rorschach inkblots test could provide information on neural correlates of the underlying perceptual-cognitive processing and potentially identify neuroimaging markers of psychopathology risk. The present paper offers a systematization of the available literature on the Rorschach inkblot test and neuroimaging research. The 13 selected studies had been conducted with healthy participants and using fMRI, EEG, and fNIRS to investigate the neural underpinnings of Rorschach inkblot test responses. The neural processes underlying the visual, social, and emotional processes described by the included papers are systematically summarized. Research on the neural correlates of the Rorschach inkblot test is promising and would further benefit from studies on clinical populations, broader samples, and younger age groups.

GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.

BACKGROUND: GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tools providing insights and real-world data on rare diseases. OBJECTIVE: To describe the implementation of a national web-based registry for GLUT1-DS. METHODS: This is a retrospective and prospective, multicenter, observational registry developed in collaboration with the Italian GLUT1-DS association and based on an innovative, flexible and configurable cloud computing technology platform, structured according to the most rigorous requirements for the management of patient's sensitive data. The Glut1 Registry collects baseline and follow-up data on the patient's demographics, history, symptoms, genotype, clinical, and instrumental evaluations and therapies. RESULTS: Five Centers in Italy joined the registry, and two more Centers are currently joining. In the first two years of running, data from 67 patients (40 females and 27 males) have been collected. Age at symptom onset was within the first year of life in most (40, 60%) patients. The diagnosis was formulated in infancy in almost half of the cases (34, 51%). Symptoms at onset were mainly paroxysmal (mostly epileptic seizure and paroxysmal ocular movement disorder) or mixed paroxysmal and fixed symptoms (mostly psychomotor delay). Most patients (53, 79%) are currently under Ketogenic dietary treatments. CONCLUSIONS: We describe the principles behind the design, development, and deployment of the web-based nationwide GLUT1-DS registry. It represents a stepping stone towards a more comprehensive understanding of the disease from onset to adulthood. It also represents a virtuous model from a technical, legal, and organizational point of view, thus representing a possible paradigmatic example for other rare disease registry implementation.

Neurocognition and functioning in adolescents at clinical high risk for psychosis.

BACKGROUND: Once psychosis has set in, it is difficult for patients to achieve full recovery. Prevention of psychosis and early intervention are promising for improving the outcomes of this disorder. In the last two decades, neurocognition has been studied as a biomarker for clinical-high risk for psychosis (CHR-P). However, neurocognitive functioning has been under-investigated in adolescents. METHODS: We enrolled 116 adolescents from 12 to 17 years old (mean = 15.27, SD = 1.56; 76 females). This 3-year cohort study aimed to identify differences in neurocognitive and overall functioning in three groups of adolescent patients divided according to the semi-structured interview Comprehensive Assessment of At-Risk Mental States (CAARMS): adolescents with established psychosis, adolescents with CHR-P, and adolescents not meeting either criteria (non-CHR-P). To differentiate the profiles, clinicians administered cognitive evaluation and neuropsychological tasks. Moreover, they filled in scales to assess their global, social, and role functioning and a questionnaire to assess the severity of the disease. RESULTS: We made a between-group comparison on neurocognitive measures and found that the CHR-P and the psychosis groups differed in processing speed (TMT-A; p = .002 in BVN categorial fluency (p = .018), and Rey-Osterrieth complex figure drawing from memory task (p = .014), with psychosis group showing worse performance. No differences emerged between non-CHR-P and CHR-P (p = .014) individuals. CHR-P had better functioning than the psychosis group but worse than the non-CHR-P one. CONCLUSIONS: These results confirm that neurocognition can be a helpful biomarker in identifying specific subgroups of adolescents with emerging psychopathology and help clinicians develop stratified preventive approaches.

The Family Caregiving Environment Associates with Adolescent Patients' Severity of Eating Disorder and Interpersonal Problems: A Cross-Sectional Study.

The quality of family interactions may be a critical factor for restrictive eating disorders (REDs). Adolescent patients with RED have interpersonal problems that can be inferred by observing their behaviours during family interactions. To date, the assessment of the association among RED severity, interpersonal problems, and patients' interactive behaviours in the family is partially explored. This cross-sectional study aimed to explore how adolescent patients' interactive behaviours observed during the Lausanne Trilogue Play-clinical version (LTPc) were associated with both RED severity and interpersonal problems. Sixty adolescent patients completed the EDI-3 questionnaire to assess RED severity using the Eating Disorder Risk Composite (EDRC) and Interpersonal Problems Composite (IPC) subscales. Moreover, patients and their parents took part in the LTPc, and patients' interactive behaviours were coded as participation, organization, focal attention, and affective contact in all the LTPc four phases. A significant association emerged between patients' interactive behaviours during the LTPc triadic phase and both EDRC and IPC. Better patients' organization and affective contact significantly correlated with lower RED severity and fewer interpersonal problems. These findings suggest that investigating the quality of family relationships and patients' interactive behaviours may contribute to better identifying adolescent patients at risk for more severe conditions.

Life Events in the Etiopathogenesis and Maintenance of Restrictive Eating Disorders in Adolescence.

Life events (traumatic and protective) may be critical factors associated with eating disorders and their severity. To date, there is little literature concerning the role of life events in adolescence. The main goal of this study was to explore in a sample of adolescent patients with restrictive eating disorders (REDs) the presence of life events in the year before enrolment and to characterize them according to timing. Furthermore, we investigated correlations between REDs severity and the presence of life events. In total, 33 adolescents completed the EDI-3 questionnaire to assess RED severity using EDRC (Eating Disorder Risk Composite), GPMC (General Psychological Maladjustment Composite), and the Coddington Life Events Scales-Adolescent (CLES-A) questionnaires to define the presence of life events in the last year. Of these, 87.88% reported a life event in the past year. A significant association emerged between elevated clinical GPMC and the presence of traumatic events: patients who had experienced at least one traumatic life event in the year before enrolment presented higher clinically elevated GPMC compared to patients who had not. These results suggest that obtaining early information about traumatic events in clinical practice may help prevent the occurrence of new events and improve patient outcomes.

Empathy and behavior in children affected by autism spectrum disorders.

BACKGROUND: Many studies have already shown that individuals suffering from autism spectrum disorders (ASD) present low levels of empathy: in fact, reduced emotional reciprocity is considered a clinically significant indicator of autistic functioning. We decided to investigate the role of empathy in determining pathological behaviors in children affected by ASD considering parents' point of view; and to evaluate the presence of differences between mothers and fathers' perception of their child's empathy and behaviors. METHODS: We compared empathy levels in a sample of 58 patients with ASD as reported by a parent-filled questionnaire with the results of a global evaluation conducted by means of play observations, clinician-rated scales, a semistructured interview with both caregivers and parent-filled questionnaires. RESULTS: The majority of ASD patients have low levels of empathy according to both parents' points of view; noteworthy, mothers and fathers are highly concordant in this respect. Children's levels of empathy negatively correlate with many behavioral problems, both internalizing and externalizing. Furthermore, we found that mothers tend to perceive more internalizing problems, while fathers are more willing to notice externalizing ones. CONCLUSIONS: Involving both caregivers in children's diagnostic assessment could deepen patient's evaluation and finally the therapeutic results. Mothers and fathers seem to be highly consistent in describing the psychological characteristics of their child, but not in respect to symptoms.

How parental levels of empathy and alexithymia influence their perception of child's behavior.

BACKGROUND: Literature states that parents of individuals affected by autism spectrum disorder (ASD) can present social and cognitive deficits, restricted behavior patterns and psychiatric difficulties, without meeting standard diagnostic criteria for ASD ("broader autism phenotype"). We explored the relationship between parenting of children affected by ASD and levels of empathy and lack of emotion understanding (alexithymia). METHODS: We enlisted 58 families in which a child was affected by ASD. Parents' empathy and alexithymia were respectively assessed by means of Empathy Quotient (EQ) and Toronto Alexithymia Scale (TAS-20). Additionally, we included the assessment of the perception of children's behavior through the Child Behavior Checklist (CBCL). RESULTS: Our findings suggest that most parents have normal empathy and do not show significant alexithymia. We found lower EQ and higher TAS-20 scores being more frequent in fathers. Moreover, each parent's empathy degree negatively relates to his/her alexithymia and vice versa, showing that these two features are inversely correlated. Our study unveiled a strong correlation between maternal empathy and alexithymia and child's externalizing problems, as reported by mothers. CONCLUSIONS: Our data reveal differences in mothers and fathers' empathy and alexithymia profiles and confirm the importance of considering both parents' points of view either in the diagnostic and the therapeutic interventions. Parental empathy and alexithymia levels not only play a fundamental role in the evaluation of child's difficulties but can also influence the development of a good relationship with the child for what concerns affective resonance.

Psychiatric symptoms and emotional impact of the COVID-19 pandemic on Italian adolescents during the third lockdown: a cross-sectional cohort study.

A previous study showed that about 80% of Italian adolescents reported isolated symptoms of acute or post-traumatic stress during the first lockdown in Italy. We proposed a new questionnaire to investigate the presence of symptoms related to anxiety, panic, depression, eating disorders, sleep disorders, social withdrawal, stress disorders, psychotic symptoms, anti-conservative thoughts, and self-harming acts aggravated by COVID-19 restrictions and possible differences between males and females. 500 adolescents (12-18 years) completed an online survey created using validated scales. 41% of the respondents felt more stress than during the first lockdown. 1.85% showed suprathreshold symptoms for post-traumatic stress disorder and 21% showed isolated symptoms of acute or post-traumatic stress due to the pandemic. In addition, we found psychotic symptoms (16%), panic (25% suprathreshold), anxiety (46.8% suprathreshold), depression (18.7% suprathreshold), eating-related symptoms (51%), sleep difficulties (57%), a tendency to social withdrawal after the pandemic (15%), suicidal ideation (30%), and self-harming behavior (9%). Furthermore, girls showed a more severe level of distress. The results show a high prevalence of symptoms because of the COVID-19 pandemic and confirm the need for easy access to support and treatment service to help contain the bio-psycho-social risk factors prompted by the current pandemic and promptly and effectively manage the consequences.

GC1f Vitamin D Binding Protein Isoform as a Marker of Severity in Autism Spectrum Disorders.

Autism spectrum disorders (ASD) are characterized by a wide spectrum of clinical, behavioral, and cognitive manifestations. It is, therefore, crucial to investigate possible biomarkers associated with specific ASD phenotypes. Ample literature suggests a possible role for vitamin D (VD) in influencing ASD clinical phenotypes. We analyzed three vitamin D binding protein gene (DBP) functional polymorphisms (rs2282679, rs7041, and rs4588), which are involved in the modulation of vitamin D serum concentration in 309 ASD children and 831 healthy controls. Frequency comparisons of single nucleotide polymorphisms (SNPs) alleles, genotypes, and GC isoforms (GC1f, G1s, and GC2)­generated by the combination of rs7041 and rs4588 alleles­were correlated with ASD diagnostic, behavioral, and functioning scales. The GC1f isoform was significantly more frequent in ASD compared with controls (18.6% vs. 14.5% pc = 0.02). Significantly higher scores for item 15 of the Childhood Autism Rating Scale (CARS) and lower ones for the Children's Global Assessment Scale (CGAS) functioning scales were seen in ASD carrying the GC1f isoform. In GC phenotype analysis, a gradient of severity for overall CARS scores and CARS item 15 was observed, with scores decreasing according to the presence of GC1f-GC1f > GC1f-GC1s > GC1s-GC1s > GC1f-GC2 > GC2-GC2 isoforms. Similarly, lower CGAS scores were seen in carriers of the GC1f-GC1f isoform, whereas higher scores were present in those carrying GC2-GC2 (p = 0.028). This is the first study to evaluate possible relationships between GC variants and the different aspects of ASD in Italian ASD children. Results, although needing to be validated in ampler cohorts, suggest that the GC1f isoform could be a marker of severity in ASD that may be useful in establishing the intensity of therapeutic and rehabilitative protocols.

Behavioral problems in psychotic, clinically high-risk, and non-psychotic adolescent patients.

BACKGROUND: A growing body of research provides evidence for social and behavioral problems observed among adolescents with psychosis and also as precursors of vulnerability to psychosis, long before the illness onset, especially in females patients. As such, the main aim of the current study was to investigate from a patient perspective the presence of differences in the behavioral problems self-disclosed by psychotic, clinically high-risk, and non-psychotic adolescents. Moreover, since adolescent girls may present higher risk of internalizing problems, we explored the additional role of sex in interaction with psychotic risk or clinical condition in altering the self-disclosed severity of behavioral problems among the three groups of adolescents. METHODS: One-hundred and fifty-eight adolescent patients were interviewed by a trained child neuropsychiatrist applying the Comprehensive Assessment of At Risk Mental States in order to identify a quantitative index of risk for full-blown and attenuated psychosis. All patients self-reported on their behavioral problems filing in the well-validated Italian version of the Youth Self-Report, which quantifies internalizing, externalizing, and total behavioral problems. RESULTS: Regarding Youth Self-Report's scores, non-psychotic adolescents had reported lower total and internalizing scores compared to clinically high-risk and psychotic counterparts. Additionally, in our sample a significant group × sex interaction effect emerged for total and internalizing scores: females reported greater risk of total and internalizing behavioral problems, only in the clinically high-risk group. CONCLUSIONS: Higher variability should be expected in the behavioral profile of high-risk adolescents in comparison to psychotic ones. Elevations of internalizing behavioral symptoms, thus, might be considered as a much more relevant risk factor in girls during adolescence.