Frontiers in child and adolescent psychiatry最新文献

{"title":"Social and executive functioning in individuals with autism spectrum disorder without intellectual disability: The case-control study protocol of the CNeSA study.","authors":"Federica Donno, Carla Balia, Jessica Boi, Mirko Manchia, Alessandro Zuddas, Sara Carucci","doi":"10.3389/frcha.2023.1149244","DOIUrl":"10.3389/frcha.2023.1149244","url":null,"abstract":"<p><p>Several studies suggest that children and adolescents with autism spectrum disorder (ASD) often present deficits in executive functions (EFs). The research on cold EF shows a high heterogeneity across different cohorts of patients as well as different study designs, while studies investigating hot EF and their relationship with different ASD phenotypes are still limited and related only to specific domains, although this concept could contribute to clarify the phenotypical variability by explaining the difficulties encountered by individuals with ASD in daily life, where stimuli are often emotionally charged. With the aim to identify specific neuropsychological profiles in children and adolescents with ASD without intellectual disability, we designed a study protocol comparing a clinical sample of individuals with ASD to aged-matched (10-17 years) typically developing controls (TDC) on a neuropsychological test battery investigating both \"cold\" and \"hot\" EF with the purpose of further investigating their relationships with ASD symptoms. Autonomic measures including heart rate, heart rate variability, skin conductance, and salivary cortisol were also recorded before/during/after the neuropsychological testing session. This paper describes the case-control study protocol named \"<i>Caratterizzazione NEuropsicologica del disturbo dello Spettro Autistico, senza Disabilità Intellettiva, CNeSA study</i>,\" its rationale, the specific outcome measures, and their implications for the clinical management of individuals with ASD and a precision medicine approach.</p>","PeriodicalId":73074,"journal":{"name":"Frontiers in child and adolescent psychiatry","volume":"22 1","pages":"1149244"},"PeriodicalIF":0.0,"publicationDate":"2023-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11731623/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84996698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"On the risks of secure attachment in infancy: Childhood irritability and adolescent depression predicted by secure attachment and high approach behaviours at 14-months towards a caregiver living with inter-parental violence.","authors":"Jonathan Hill, Nicky Wright, Helen Sharp, Andrew Pickles, Howard Steele","doi":"10.3389/frcha.2023.1143125","DOIUrl":"10.3389/frcha.2023.1143125","url":null,"abstract":"<p><strong>Introduction: </strong>The secure infant turns to a caregiver for comfort when distressed or threatened. Does this level of openness create vulnerability where the caregiver is unsupportive or aggressive? In this study we examined prospectively whether secure attachment in infancy, and approach behaviours on reunion with a parent, were associated with childhood emotional dysregulation (irritability) and adolescent depression among children exposed to inter-parental violence.</p><p><strong>Methods: </strong>We followed 219 families recruited from the general population during pregnancy (members of the Wirral Child Health and Development Study; WCHADS), with attachment assessments (Strange Situation Procedure; SSP) at 14 months, maternal interviews about inter-parental violence at 2.5, 5 and 7 years, and parent and teacher rated irritability at 9 years (CBCL). At age 13 years, 199 young people rated their levels of depression (SMFQ). In addition to the standard SSP classification, a latent variable reflecting approach behaviours during reunions was generated from the SSP dimensional scores and a factor score extracted. Analyses used path analysis using the gsem command in Stata.</p><p><strong>Results: </strong>There were interactions between attachment security and inter-parental violence for age 9 irritability (<i>p</i> = .084) and age 13 depression (<i>p</i> = .039) which arose from greater levels of psychopathology among secure children exposed to inter-parental violence. Similarly, higher approach behaviours during SSP reunions among children exposed to inter-parental violence were associated with irritability (interaction term <i>p</i> = .004) and depression (interaction term <i>p</i> < .001). Among children who were not exposed to partner violence higher approach behaviours in the SSP were associated with lower irritability and depression.</p><p><strong>Conclusion: </strong>Infant behaviours characteristic of attachment security in the Strange Situation Procedure may not equip children to deal with exposure to inter-parental violence and associated parental negativity.</p>","PeriodicalId":73074,"journal":{"name":"Frontiers in child and adolescent psychiatry","volume":"27 1","pages":"1143125"},"PeriodicalIF":0.0,"publicationDate":"2023-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85375236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Childhood adversity, emergent psychopathology, and adolescent-to-parent violence: Process mining trajectories from police and health service administrative data.","authors":"Allison Peck, Marie Hutchinson, Steve Provost","doi":"10.3389/frcha.2023.1074861","DOIUrl":"10.3389/frcha.2023.1074861","url":null,"abstract":"<p><strong>Aim: </strong>To discover developmental risk trajectories for emerging mental health problems among a sample of adolescent family violence offenders to inform service delivery focused on early preventative interventions with children and their families.</p><p><strong>Design: </strong>A retrospective case-series design employing data linkage.</p><p><strong>Setting: </strong>An Australian regional location.</p><p><strong>Participants: </strong>Adolescents (born between 1994 and 2006) issued a legal action by the NSW Police Force for an adolescent-to-parent family violence offense (<i>n</i> = 775).</p><p><strong>Procedure: </strong>Discrete routinely collected episode data in police and health service electronic records for children, and police data for parents, were linked and transformed into longitudinal person-based records from birth to 19 years to identify trajectories for mental health problems.</p><p><strong>Results: </strong>Sixty-three percent (<i>n</i> = 489) of adolescents had contact with a mental health service before age 19. The majority of these adolescents received a diagnosis for a stress or anxiety disorder (<i>n</i> = 200). Trajectory analysis found childhood exposure to parental intimate partner violence and parental drug and/or alcohol use were dominant events in the pathway to receiving a mental health diagnosis. Being a victim of a sexual offense was found to increase the odds of adolescents having a diagnosis for each of the main mental health categories (with the exception of drug or alcohol disorders).</p><p><strong>Conclusions: </strong>Pathways to mental health problems were characterized by inter-related adverse childhood events and poly-victimization for many adolescents. Early identification of at-risk children must be a continued focus of child health services in order to reduce and identify early emerging mental health problems.</p>","PeriodicalId":73074,"journal":{"name":"Frontiers in child and adolescent psychiatry","volume":"62 1","pages":"1074861"},"PeriodicalIF":0.0,"publicationDate":"2023-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732081/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88841395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between irritability, depression and anxiety among Chinese college students during the COVID-19 pandemic: A network analysis.","authors":"Ling Li, Lei Ren, Xiaoqing Zhan, Lingzhi Wang, Chang Liu, Mengxue Zhao, Xi Luo, Zhengzhi Feng, Kuiliang Li","doi":"10.3389/frcha.2023.1045161","DOIUrl":"10.3389/frcha.2023.1045161","url":null,"abstract":"<p><strong>Introduction: </strong>Irritability, a common symptom included in the 5th Edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5), is thought to be associated with multiple emotional disorders. It is commonly seen among college students in isolation during the COVID-19 pandemic. However, its relation with anxiety and depression remains unclear. We aim to study the relation of irritability, anxiety and depression in Chinese college students during the COVID-19 pandemic by using network analysis to understand the co-occurrence of these three disorders.</p><p><strong>Methods: </strong>During the COVID-19 pandemic, we recruited 1516 college students from five general universities in China to complete the Irritability, Depression and Anxiety Scale (IDA-S) to analyze the symptom network of irritability, depression and anxiety. Specifically, we assessed the indices of strength centrality and bridge strength for each node in the network.</p><p><strong>Results: </strong>Some strongest linkages were found among anxiety symptoms \"nervous\" and \"panic\" (weight = 0.36), depression symptoms \"sad mood\" and \"amused\" (weight = 0.32), inward irritability items \"self-hurt\" and \"self-harm\" (weight = 0.32) and outward items \"rough\" and \"aggressive\" (weight = 0.28). The anxiety symptom \"panic\" had the highest strength value, followed by the inward irritability symptom \"annoyed\". The nodes \"ease\" and \"sleep\" had the lowest strength value. In addition, the anxiety symptom \"relax\" had the highest bridge strength value, followed by inward irritability symptom \"annoyed\".</p><p><strong>Conclusion: </strong>This study explored the characteristics of a network of irritability, depression and anxiety symptoms among Chinese college students during the COVID-19 pandemic. We found that anxiety and irritability symptoms played an important role in the network. The findings provide evidence for prevention and intervention for college students' mental health problems during the COVID-19 pandemic.</p>","PeriodicalId":73074,"journal":{"name":"Frontiers in child and adolescent psychiatry","volume":"18 1","pages":"1045161"},"PeriodicalIF":0.0,"publicationDate":"2023-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81462278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The SNABB ADHD treatment scale-An easy-to-use scale on treatment monitoring in childhood ADHD: A pilot study.","authors":"Elin Nylander, Jonas Hermansson, Gudrun Nygren","doi":"10.3389/frcha.2023.1114565","DOIUrl":"10.3389/frcha.2023.1114565","url":null,"abstract":"<p><strong>Introduction: </strong>Information from parents and teachers are essential in the treatment monitoring of children with attention deficit hyperactivity disorder (ADHD). Rating scales are infrequently used in the treatment monitoring, and clinicians are signalling logistic barriers in the administration of rating scales in clinical settings. Here, we aimed to try out a new easy-to-use scale to facilitate information sharing between parents, teachers, and medical staff, in the treatment of childhood ADHD.</p><p><strong>Methods: </strong>We examined the SNABB scale in a clinical sample of 27 child- and adolescent patients with any type of ADHD, in a routine clinical setting. We compared the outcome of the new SNABB scale with the commonly used Swanson, Nolan, and Pelham Teacher and Parent ADHD rating scale-version IV (SNAP-IV).</p><p><strong>Results: </strong>The SNABB questions concerning ADHD cardinal symptoms hyperactivity and impulsivity were associated with the concurrent SNAP-IV subscale, with moderate to strong correlations. The SNABB inattention question failed all associations with the concurrent SNAP-IV inattention subscale. A secondary finding was that the SNABB mood regulation question correlated with the SNAP-IV ODD-subscale at all three measure points.</p><p><strong>Conclusion: </strong>Present pilot study brings promising results for the possibility to carry out larger scale studies concerning the psychometric properties of the SNABB scale.</p>","PeriodicalId":73074,"journal":{"name":"Frontiers in child and adolescent psychiatry","volume":"57 1","pages":"1114565"},"PeriodicalIF":0.0,"publicationDate":"2023-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78827099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Observing the behavioural effects of methylphenidate in children and adolescents with ASD-ADHD dual diagnosis: A mini review.","authors":"Danilo Dimitri, Giuliana Delia, Maurizio Arduino, Nazarena Turco, Franco Fioretto","doi":"10.3389/frcha.2023.1052115","DOIUrl":"10.3389/frcha.2023.1052115","url":null,"abstract":"<p><strong>Research aim: </strong>The aim of this study is to focus on the main neurophysiological aspects of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) and the current pharmacological treatment used for the management of hyperactivity and attention deficits in children aged 6-20 years with a diagnosis of ASD, not associated with other genetic or epileptic disorders, such as Fragile X Syndrome (FXS), Tuberous Sclerosis, Kleefstra Syndrome or Angelman Syndrome.</p><p><strong>Methods: </strong>This mini review was conducted according to the <i>P</i>.I.C.O. model and according to the PRISMA guidelines. The keywords used were: <i>autism spectrum disorder</i>; <i>attention deficit hyperactivity disorder</i>; <i>attention deficit disorder</i>; <i>methylphenidate</i>; <i>ritalin</i>; <i>ADHD</i>; <i>youth autism</i>; <i>childhood autism</i>; <i>childhood autism spectrum disorder</i>; <i>adolescent autism</i>. The strings produced were compared and selected by a third independent clinician. The PubMed and PsycArticles search yielded a total of 3,200 articles. For their inclusion, the 3,200 articles were examined by two clinicians who ultimately selected 28 (15 clinical trials and 13 reviews/meta-analyses) articles analysed according to their consistency with the inclusion and exclusion criteria.</p><p><strong>Conclusions: </strong>Three main aspects emerged from the review: (1) According to the existing literature, new randomized controlled trials are needed to ensure a better understanding of the most effective drug treatments for dual-diagnosed ASD-ADHD patients and of the related behavioural effects. Currently, the use of drugs varies depending on psychiatric comorbidity, symptoms, age and gender and there is no univocal reference therapy; (2) Methylphenidate (MPH) has currently been shown to be the most suitable drug for the treatment of hyperactivity and inattention in individuals diagnosed with ASD and ADHD; (3) There is a need to create and evaluate appropriate tests to analyse more specific patterns of behaviour presented in the two conditions.</p>","PeriodicalId":73074,"journal":{"name":"Frontiers in child and adolescent psychiatry","volume":"58 1","pages":"1052115"},"PeriodicalIF":0.0,"publicationDate":"2023-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76675214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic work to enhance parental mentalizing for parents with ACEs to support their children's mental health: A theoretical and clinical review.","authors":"Daphna G Dollberg, Keren Hanetz-Gamliel","doi":"10.3389/frcha.2023.1094206","DOIUrl":"10.3389/frcha.2023.1094206","url":null,"abstract":"<p><p>This review outlines the literature concerning the impact of adverse childhood experiences (ACEs) on parenting, focusing on how childhood trauma in parents might impede the development of adaptive parental mentalizing skills. Non-adaptive parental mentalizing may lead to non-mentalizing cycles between parents and children, which can put the child's mental health at risk. When parents who have endured ACEs have to cope with their children's mental health problems, they may have to deal with a double dose of parental stress related to their own traumatic history and their children's emotional difficulties. This heightened parental stress may further shake the parents' mentalizing skills. In line with this special issue's topic, we propose the promoting and restoring of parental mentalizing as a treatment goal for parents who have endured ACEs and whose children face mental health difficulties. We review the empirical and clinical evidence regarding the benefits of effective parental mentalizing and the availability of techniques to enhance it. We argue that working therapeutically and focusing on supporting and advancing parental mentalizing is an effective and feasible treatment goal with parents who endured ACEs. We demonstrate how we use these interventions through fictional vignettes from our therapeutic work and offer recommendations for clinical work with parents with traumatic histories.</p>","PeriodicalId":73074,"journal":{"name":"Frontiers in child and adolescent psychiatry","volume":"16 1","pages":"1094206"},"PeriodicalIF":0.0,"publicationDate":"2023-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11731653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73330652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mobile Application to identify and recognize emotions for children with autism: A systematic review.","authors":"Abdelrahman Mohammed Al-Saadi, Dena Al-Thani","doi":"10.3389/frcha.2023.1118665","DOIUrl":"10.3389/frcha.2023.1118665","url":null,"abstract":"<p><strong>Introduction: </strong>Emotions are a vital component of human interaction. Children with Autism Spectrum Disorder (ASD) face severe difficulties in sensing and interpreting the emotions of others, as well as responding emotionally appropriately. Developers are producing many mobile applications to assist ASD children in improving their facial expression detection and reaction abilities and increasing their independence.</p><p><strong>Objective: </strong>This systematic review aims to explore the mobile application in helping children with ASD to identify and express their feeling.</p><p><strong>Methods: </strong>The inclusion and exclusion articles for our analysis were mapped using the PRISMA Preferred Reporting Items for Systematic Reviews and Meta-Analysis diagram. The studies were retrieved from the following four databases: Google Scholar, Scopus, Association for Computing Machinery (ACM), and Institute of Electrical and Electronics Engineers (IEEE). Additionally, two screening processes were used to determine relevant literature. Reading the title and abstract was the initial step, followed by reading the complete content. Finally, the authors display the results using a narrative synthesis.</p><p><strong>Results: </strong>From four electronic databases, we retrieved 659 articles. six studies that met our inclusion criteria were included in the systematic review. More details about inclusion and exclusion criteria can be found in the Eligibility criteria.</p><p><strong>Conclusion: </strong>This systematic review sheds light on current research that employed mobile applications to improve emotion detection and expression in children with ASD. This smartphone application has the potential to empower autistic children by assisting them in expressing their emotions and enhancing their ability to recognize emotions. However, it is currently deemed essential to assess the effectiveness of mobile applications for remediation through more rigorous methodological research. For example, most included studies were quantitative and focused on statical measurements. However, there is an immediate need for more incredible research in this area to include qualitative research and to consider large samples, control groups and placebo, prolonged treatment durations, and follow-up to see whether improvements are sustainable and to ensure the effectiveness of applications.</p>","PeriodicalId":73074,"journal":{"name":"Frontiers in child and adolescent psychiatry","volume":"132 1","pages":"1118665"},"PeriodicalIF":0.0,"publicationDate":"2023-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89022021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Narratives of heritage and legacy: Child and adolescent mental health trainees portrayed.","authors":"Ayobello Ayotunde, Karen Siegel, Adelaide Feibel, Laelia Benoit, Andrés Martin","doi":"10.3389/frcha.2023.1104637","DOIUrl":"10.3389/frcha.2023.1104637","url":null,"abstract":"<p><strong>Objectives: </strong>We sought to embellish a child and adolescent mental health space by creating and displaying a large painting imbued with meaning and symbolism specific to the field. In it, we featured a broad array of trainees in the disciplines of child psychiatry, psychology, and social work. We used the portraiture sessions as opportunities for participants to reflect on their professional trajectories and developmental progression.</p><p><strong>Methods: </strong>The lead author painted <i>Heritage and Legacy</i>, a 6 × 4 ft oil painting of 15 trainees (8 women), between February 2020 and December 2022. Each studio sitting lasted approximately four hours and included an in-depth interview that was recorded and transcribed for qualitative analysis. We used narrative inquiry as our analytic approach, a method that attends to unique stories and aims to make meaning out of individuals' life experiences.</p><p><strong>Results: </strong>We organized our analytic framework chronologically: (1) <i>Heritage</i> (past influences); (2) <i>Becoming</i> (the current process of professionalization); and (3) <i>Legacy</i> (reflections about the future). Through these life stages, we consider findings from three complementary vantage points: (1) the unique methodology of using a collective portrait as the basis for a qualitative study using narrative inquiry; (2) the participants' individual and collective trajectories of professionalization and professional identity formation; and (3) their transitions and legacy-including through mentorship and generativity, as much as through concrete objects and places, such as the oil painting itself and the space in which it will permanently reside.</p><p><strong>Conclusions: </strong>The lengthy process of creating an oil canvas depicting a multidisciplinary group of professionals in training proved a powerful vehicle for self-reflection by those portrayed. It has yielded insights of broader relevance to the training and education of the next generation of practitioners.</p>","PeriodicalId":73074,"journal":{"name":"Frontiers in child and adolescent psychiatry","volume":"3 1","pages":"1104637"},"PeriodicalIF":0.0,"publicationDate":"2023-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11747910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84926970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Behavioral profiling in children and adolescents with Malan syndrome.","authors":"Paolo Alfieri, Federica Alice Maria Montanaro, Marina Macchiaiolo, Martina Collotta, Cristina Caciolo, Paolo Galassi, Filippo Maria Panfili, Fabiana Cortellessa, Marcella Zollino, Marcello Chinali, Maria Accadia, Marco Seri, Andrea Bartuli, Corrado Mammì, Marco Tartaglia, Stefano Vicari, Manuela Priolo","doi":"10.3389/frcha.2023.1106228","DOIUrl":"10.3389/frcha.2023.1106228","url":null,"abstract":"<p><p>Malan syndrome (MALNS) is an ultra-rare genetic disorder caused by heterozygous chromosomal microdeletions involving the 19p13.2 region or loss-of-function variants in the <i>NFIX</i> gene. It is characterized by specific phenotypical features, intellectual disability (ID), and limitations in adaptive functioning and behavioral problems. In a previous work, we defined the cognitive, adaptive, linguistic and visuomotor ability profiles in a group of 15 MALNS individuals, providing quantitative data from standardized evaluations. Here, we further extend the characterization of MALNS by analyzing the behavioral and psychopathological comorbidities of the same cohort, administering standardized tests. Children were evaluated from October 2020 to January 2022. Retrospective data analysis was also performed. Assessment consisted of clinical observations, structured parent interviews, and parent-reported questionnaires. For each scale, comparisons between subtests were performed. Results of our analysis show that the most prevalent psychiatric comorbidities are represented by anxiety symptoms (including GAD, separation anxiety and specific phobias), ADHD, autistic symptoms, and social and attention problems. Of note, minimal or no signs of ASD were observed. In conclusion, our findings indicate that the psychopathological and behavioral comorbidities, together with cognitive impairment, language problems and sensory difficulties interfere with development, daily activities and social participation, therefore contributing to the severity of the disability associated with MALNS. Awareness of this profile by professionals and caregivers can promote prompt diagnosis and support cognitive and behavioral development.</p>","PeriodicalId":73074,"journal":{"name":"Frontiers in child and adolescent psychiatry","volume":"49 1","pages":"1106228"},"PeriodicalIF":0.0,"publicationDate":"2023-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85747473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}