Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.

Several studies show great heterogeneity in the type of genetic test requested and in the clinicopathological characteristics of patients with ASD. The following study aims, firstly, to explore the factors that might influence professionals' decisions about the appropriateness of requesting genetic testing for their patients with ASD and, secondly, to determine the prevalence of genetic alterations in a representative sample of children with a diagnosis of ASD. Methods: We studied the clinical factors associated with the request for genetic testing in a sample of 440 children with ASD and the clinical factors of present genetic alterations. Even though the main guidelines recommend genetic testing all children with an ASD diagnosis, only 56% of children with an ASD diagnosis were genetically tested. The prevalence of genetic alterations was 17.5%. These alterations were more often associated with intellectual disability and dysmorphic features. There are no objective data to explicitly justify the request for genetic testing, nor are there objective data to justify requesting one genetic study versus multiple studies. Remarkably, only 28% of males were genetically tested with the recommended tests (fragile X and CMA). Children with dysmorphic features and organic comorbidities were more likely to be genetic tested than those without. Previous diagnosis of ASD (family history of ASD) and attendance at specialist services were also associated with Genetically tested Autism Spectrum Disorder GTASD. Our findings emphasize the importance of establishing algorithms to facilitate targeted genetic consultation for individuals with ASD who are likely to benefit, considering clinical phenotypes, efficiency, ethics, and benefits.

Understanding priorities and needs for child and adolescent mental health in Greece from multiple informants: an open resource dataset.

The Child and Adolescent Mental Health Initiative (CAMHI) aims to enhance mental health care capacity for children and adolescents across Greece. Considering the need for evidence-based policy, the program developed an open-resource dataset for researching the field within the country. A comprehensive, mixed-method, community-based research was conducted in 2022/2023 assessing the current state, needs, barriers, and opportunities according to multiple viewpoints. We surveyed geographically distributed samples of 1,756 caregivers, 1,201 children/adolescents, 404 schoolteachers, and 475 health professionals using validated instruments to assess mental health symptoms, mental health needs, literacy and stigma, service use and access, professional practices, training background, and training needs and preferences. Fourteen focus groups were conducted with informants from diverse populations (including underrepresented minorities) to reach an in-depth understanding of those topics. A dataset with quantitative and qualitative findings is now available for researchers, policymakers, and society [ https://osf.io/crz6h/ and https://rpubs.com/camhi/sdashboard ]. This resource offers valuable data for assessing the needs and priorities for child and adolescent mental health care in Greece. It is now freely available to consult, and is expected to inform upcoming research and evidence-based professional training. This initiative may inspire similar ones in other countries, informing methodological strategies for researching mental health needs.

Biomarkers of Depression among Adolescent Girls: BDNF and Epigenetics.

Alterations in brain-derived neurotrophic factor (BDNF) expression have been suggested to mediate the influence of environmental factors on the emergence of depression through epigenetic modifications. However, research on this subject in the developmental population is lacking and the pathophysiology of adolescent depression remains unclear. We aimed to investigate the alterations in BDNF expression and global DNA methylation in depression among adolescent girls. Thirty female inpatients with the initial diagnosis of depression were assessed before and after the period of antidepressant treatment and compared with thirty age-matched healthy controls. The assessment involved BDNF and proBDNF serum levels, the BDNF gene exon IV promoter methylation, and global DNA methylation. The methylation level in the BDNF gene exon IV promoter was significantly lower in the studied group compared with the control and correlated negatively with the severity of depression. The test distinguished the studied group from the controls with a sensitivity of 37% and specificity of 90%. The differences were no longer present after the period of antidepressant treatment. No differences in the global DNA methylation, BDNF, and proBDNF levels were found. We concluded that decreased methylation in the BDNF exon IV promoter could be considered as a biomarker of a depression state among adolescent girls.

Parent and Provider Differences in Ratings of Mental Health and Neurodevelopmental Concerns in Children with Neurologic Disorders.

Children with neurologic disorders face increased risks for mental health and neurodevelopmental conditions, with information often limited to parent report. To better understand mental health and neurodevelopmental needs in this population, a retrospective chart review of a convenience sample of children with neurologic disorders referred for a neuropsychological evaluation was conducted in the present study to explore interrater agreement between care team members (referring providers, parents, pediatric neuropsychologist). Qualitative and quantitative data were collected from the evaluation reports of 129 youth (9:0-17:11 years old; 51.2% of female sex) with neurologic disorders (i.e., 38.0% traumatic brain injury, 27.1% epilepsy, 14.7% premature birth, 7.8% pediatric cancer, 3.9% prenatal substance exposure, and 14.7% other) who completed an evaluation in 2019. Over half the youth were flagged for unmet neurodevelopmental and mental health concerns and analyses revealed low interrater agreement for mental health concerns (κ = .324), better agreement for neurodevelopmental concerns (κ = .511), and low sensitivity of referring providers (Se = .326) and parents (Se = .366). One-way analyses of variance uncovered important factors (e.g., symptom severity, adaptive skills) that may account for missed concerns. Findings guide recommendations to strengthen methods for understanding mental health and/or neurodevelopmental concerns in children with neurologic disorders.

Children in Mental Health Crisis: Pediatric Primary Care Providers' Role in Bridging Treatment Following Higher Levels of Care.

The current study examines the role of pediatric PCPs in bridging treatment for youth who have experienced mental health crises and the characteristics of these patients for whom PCPs sought psychiatric consultation and referral support from a child psychiatry access program, Maryland Behavioral Health Integration in Pediatric Primary Care. Psychiatric consultation and referral calls between 2012 and 2021 were included if a) the patient was recently seen in a higher level of care and b) the PCP was bridging treatment following the patient's discharge; 208 calls met criteria. The most common mental health concerns included depressed mood, suicidal thoughts/gestures, and anxiety. Acute concerns of aggression, suicide attempts, and hallucinations were also reported. Over half of the patients had two or more mental health diagnoses. At the time of the call, only one quarter of these patients had outpatient therapy services while about half were receiving medication treatment. Most of these patients were discharged from the higher level of care without a care plan. Pediatric PCPs are managing their patients' complex mental health concerns following receipt of higher levels of care. Improvements in collaboration and care coordination between pediatric PCPs and emergency department providers are needed.

Linking Primary Care to Community-Based Mental Health Resources via Family Navigation and Phone-Based Care Coordination.

Family navigation (FN) and phone-based care coordination may improve linkages from primary care to community-based mental health referrals, but research on their differential impact is limited. This mixed-methods study compared FN and phone-based care coordination in connecting families to mental health services from primary care. Families of children (56.3% male, mean age = 10.4 years, 85.4% Black) were sequentially assigned to either receive FN through a family-run organization or phone-based coordination via the child psychiatry access program (CPAP). Caregiver-reported children's mental health improved in both groups and both groups were satisfied with services. More families in the CPAP group had appointments made or completed (87%) than families in the FN group (71%) though the difference was not statistically significant. Future research with a larger sample that matches family needs and preferences (e.g., level and type of support) with navigation services would be beneficial.

A history of childhood schizophrenia and lessons for autism.

The diagnosis of childhood schizophrenia was widely employed in the U.S. from the 1930s to the late 1970s. In this paper I will provide a history of the diagnosis. Some of the earliest publications on childhood schizophrenia outlined the notion that childhood schizophrenia had different types. I will outline the development of these types, outlining differing symptoms and causes associated with various types. I outline how different types of childhood schizophrenia were demarcated from one another primarily on age of onset and the type of psychosis which was believed to be present. I will outline how various child psychiatrists viewed the types of childhood schizophrenia posited by other child psychiatrists. I will outline the process of abandoning childhood schizophrenia. I use my history to challenge what I believe are misconceptions about childhood schizophrenia. Also, I will use my history to draw lessons for thinking about modern notions of autism. It shows potential problems around formulating psychiatric diagnoses around causes and how compromises might be needed to prevent those problems. Additionally, childhood schizophrenia shows that psychiatrists could formulate subtypes that are not based upon functioning levels and that we can conceive of subtypes as dynamic whereby someone can change which subtype they exhibit over time.

Gene-based drug therapy for children and youth treated with psychoactive medications.

Psychoactive medications are increasingly used to treat children and youth with mental health conditions, but individual variations in response highlight the need for precision medicine. Pharmacogenetic (PGx) testing is a key component of precision medicine. The number of commercial pharmacogenetic testing companies promoting PGx, with the promise of achieving individualized and effective treatment of mental health conditions, has grown exponentially in recent years. Scientific evidence supporting the use of PGx to manage mental health conditions is limited, especially for paediatric populations. This practice point outlines steps guiding the use and interpretation of PGx testing for psychoactive medications in clinical settings, along with key supportive resources. Practice guidelines have been developed for variants in pharmacogenes encoding cytochrome P450 drug-metabolizing enzymes (e.g., CYP2C19, CYP2D6, CYP2C9) as one determinant of drug concentrations in blood, which can support both drug choice and dosing strategy for certain anti-psychotics, anti-depressants, and anti-epileptics. Adverse drug reactions to some anti-epileptic drugs (e.g., carbamazepine and phenytoin) have been associated with certain human leukocyte antigen types and variants in DNA polymerase gamma (POLG; valproic acid). Evidence remains limited for genetic variants of drug target proteins, making it challenging to identify patients with altered treatment responses at a therapeutic blood concentration.

Child development, film evidence, and epidemiological sciences: Elwyn James Anthony and the 1957 Zurich International Congress of Psychiatry.

In 1957, the British-Indian child psychiatrist Dr Elwyn James Anthony travelled to the Zurich International Congress of Psychiatry to show a film featuring 70 children with such complex symptomatology and behaviour that they betrayed the certainty of contemporary theories of developmental psychology and psychoanalysis. This article examines the significance of Anthony's film to the creation of new scientific models in international developmental psychology and psychiatric epidemiology. It marked a significant change in the use of filmed evidence that sought to create a truly global and universalist approach to atypical child development based purely on scientific observations. This new observational work was important in shaping new internationally ratified models to study the epidemiology of children's psychiatric conditions.

The visualization of autism: Filming children at the Maudsley Hospital, London, 1957-8.

This article examines three films made during the 1950s by Elwyn James Anthony at the psychotic clinic for children at the Maudsley Hospital that marked an important transition in the purpose and practice of visual documentation in a clinical setting: film as a research tool was transitioning from the recording of external signs as indicators of internal subjective states, to the capture of the visual flow of communication between subjects. It is a shift that had a particular impact on the emergent classification of autism, a modality not yet properly separated from the broader term of psychosis, as a non-relational condition whose visual capture demonstrated a void of inter-human communicational exchange. Film was significant not only as a recording apparatus, but as a method of cutting and crafting sequences of movements into brief repetitive motifs. The filmed behaviour of children remained opaque to interpretation, a 'finding' that facilitated the modelling of an emergent autism as subjects who were isolated, alienated and automaton-like, inhabiting a separate temporality. The article situates this 'second', affectless autism, within a broader context of post-war research into gestures as a language of the body, developed largely through an intellectual network of German émigré psychoanalysts who had fled to the US and UK in the 1930s.

Mother-blaming revisited: Gender, cinematography, and infant research in the heyday of psychoanalysis.

This article examines cinematographic observational studies of infants conducted by a loosely connected group of female psychologists and physicians in the USA from the 1930s to the 1960s. Largely forgotten today, these practitioners realized detailed and carefully planned research projects about infant behavior in a variety of settings-from the laboratory to the well-baby clinic. Although their studies were in conversation with better-known works, such as John Bowlby's research on attachment and René Spitz's films on institutionalized infants, they differed in a close examination of individual characteristics of babies and a critical attitude toward contemporary notions of 'pathological mothering'. In closely following the work of several researchers, including but not limited to pediatrician Margaret Fries (1898-1987), the clinical psychologist Sibylle Escalona (1915-96) and her team members-child psychiatrist Mary Leitch (1914-?) and avant-garde photographer Ellen Auerbach (1906-2004)-and psychologist Anneliese Korner (1918-2010), I argue that their cinematographic works shed a more nuanced light on the landscape of infant research and child psychiatry in the mid 20th century, and open a way for alternative readings of gender, psychoanalysis, and scientific observation at that time.

[The place and function of the gender of child psychiatric carers]. / Place et fonction du genre des soignants en pédopsychiatrie.

In a child psychiatry unit, where it is said that men are reassuring and women are mothering, the group experience of carers on the function of their gender in child care was explored. Gender is relevant to institutional care, but creates a divide. Representations focus on fear, sexuality, violence and fragility. Caregivers, ambivalent about neutralising gender, suffer from representations of what it does to children and to the institution.

[Questioning disruptive disorder with emotional dysregulation]. / Questionner le trouble disruptif avec dysrégulation émotionnelle.

Disruptive Emotional Dysregulation Disorder (DEDD) responds to an increase in diagnoses of clastic crises, reactive depression and bipolarity in children and adolescents. Emerging in the 1990s, EDD has become an issue for practitioners, parents and teachers alike, and has become an integral part of the landscape of paediatric and child psychiatric disorders. Its diagnostic complexity is accentuated by criteria that include persistent and disproportionate outbursts of anger, often confused with other pathologies, especially as diagnostic tools are few and far between. Professionals in the field know little about EDD, preferring to diagnose more familiar disorders.

Support to caregivers who have received genetic information about neurodevelopmental and psychiatric vulnerability in their young children: A narrative review.

Diagnosis of pathogenic genetic variants associated with neurodevelopmental and psychiatric disorders (NPDs) is increasingly made early in life. This narrative review focuses on the need for, and provision of, psychological supports following genetic diagnosis. We conducted a literature search of publications on how caregivers are informed about the NPD vulnerability associated with genetic variants, challenges and unmet needs when receiving this information, and whether psychological supports are provided. Given its early recognition, the 22q11.2 deletion has been studied thoroughly for two decades, providing generalizable insights. This literature indicates the complex caregivers' needs related to learning about potential NPD vulnerabilities associated with a genetic variant, include how to communicate the diagnosis, how to identify early signs of NPDs, how to deal with stigma and a lack of medical expertise outside of specialized genetics clinics. With one exception, no publications describe psychotherapeutic support provided to parents. In the absence of support, caregivers struggle with several unmet needs regarding potential longer-term NPD implications of a genetic diagnosis. The field needs to go beyond explaining genetic diagnoses and associated vulnerabilities, and develop approaches to support caregivers with communicating and managing NPD implications across the child's lifespan.

Childhood externalizing, internalizing and comorbid problems: distinguishing young adults who think about suicide from those who attempt suicide.

BACKGROUND: While childhood externalizing, internalizing and comorbid problems have been associated with suicidal risk, little is known about their specific associations with suicidal ideation and attempts. We examined associations between childhood externalizing, internalizing and comorbid problems and suicidal ideation (without attempts) and attempts by early adulthood, in males and females. METHOD: Participants were from the Quebec Longitudinal Study of Kindergarten Children, a population-based study of kindergarteners in Quebec from 1986 to 1988 and followed-up until 2005. We captured the co-development of teacher-rated externalizing and internalizing problems at age 6-12 using multitrajectories. Using the Diagnostic Interview Schedule administered at age 15 and 22, we identified individuals (1) who never experienced suicidal ideation/attempts, (2) experienced suicidal ideation but never attempted suicide and (3) attempted suicide. RESULTS: The identified profiles were no/low problems (45%), externalizing (29%), internalizing (11%) and comorbid problems (13%). After adjusting for socioeconomic and familial characteristics, children with externalizing (OR 2.00, CI 1.39-2.88), internalizing (OR 2.34, CI 1.51-3.64) and comorbid (OR 3.29, CI 2.05-5.29) problems were at higher risk of attempting suicide (v. non-suicidal) by age 22 than those with low/no problems. Females with comorbid problems were at higher risk of attempting suicide than females with one problem. Childhood problems were not associated with suicidal ideation. Externalizing (OR 2.01, CI 1.29-3.12) and comorbid problems (OR 2.28, CI 1.29-4.03) distinguished individuals who attempted suicide from those who thought about suicide without attempting. CONCLUSION: Childhood externalizing problems alone or combined with internalizing problems were associated with suicide attempts, but not ideation (without attempts), suggesting that these problems confer a specific risk for suicide attempts.

Positive maternal mental health during pregnancy and mental and behavioral disorders in children: A prospective pregnancy cohort study.

BACKGROUND: The role of positive maternal mental health during pregnancy in child mental health remains largely unknown. We investigated whether positive maternal mental health during pregnancy is associated with lower hazards of mental and behavioral disorders in children and mitigates the adverse effects of negative maternal mental health. METHODS: Among 3,378 mother-child dyads of the Prediction and Prevention of Preeclampsia and Intrauterine Growth Restriction study, mothers reported their positive mental health biweekly throughout pregnancy with the Positive and Negative Affect Schedule, the Spielberger State Anxiety Inventory Curiosity scale, and a visual analogue scale for social support, and negative mental health with the Center for Epidemiologic Studies Depression Scale. We extracted data on their mental and behavioral disorder diagnoses from a nationwide medical register. This register provided data on their children's mental and behavioral disorder diagnoses as well, from birth until 8.4-12.8 (Median = 10.2, Interquartile Range 9.7-10.8) years of age. RESULTS: A positive maternal mental health composite score during pregnancy was associated with a lower hazard of any mental and behavioral disorder among all children [Hazard Ratio (HR) = 0.79, 95% Confidence Interval (CI) 0.71 - 0.87] and among children of mothers experiencing clinically relevant depressive symptoms during pregnancy [HR = 0.80, 95%CI 0.64 - 1.00] and/or mental and behavioral disorders before or during pregnancy [HR = 0.69, 95%CI 0.55-0.86]. These associations were independent of covariates. CONCLUSIONS: Children whose mothers had more positive mental health during pregnancy were less likely to develop mental and behavioral disorders. Protective effects were seen also among children of mothers facing mental health adversities before or during pregnancy.

Gut mycobiome dysbiosis and its impact on intestinal permeability in attention-deficit/hyperactivity disorder.

BACKGROUND: Dysbiosis in the gut microbial community might be involved in the pathophysiology of attention-deficit/hyperactivity disorder (ADHD). The fungal component of the gut microbiome, namely the mycobiota, is a hyperdiverse group of multicellular eukaryotes that can influence host intestinal permeability. This study therefore aimed to investigate the impact of fungal mycobiome dysbiosis and intestinal permeability on ADHD. METHODS: Faecal samples were collected from 35 children with ADHD and from 35 healthy controls. Total DNA was extracted from the faecal samples and the internal transcribed spacer regions were sequenced using high-throughput next-generation sequencing (NGS). The fungal taxonomic classification was analysed using bioinformatics tools and the differentially expressed fungal species between the ADHD and healthy control groups were identified. An in vitro permeability assay (Caco-2 cell layer) was used to evaluate the biological effects of fungal dysbiosis on intestinal epithelial barrier function. RESULTS: The ß-diversity (the species diversity between two communities), but not α-diversity (the species diversity within a community), reflected the differences in fungal community composition between ADHD and control groups. At the phylum level, the ADHD group displayed a significantly higher abundance of Ascomycota and a significantly lower abundance of Basidiomycota than the healthy control group. At the genus level, the abundance of Candida (especially Candida albicans) was significantly increased in ADHD patients compared to the healthy controls. In addition, the in vitro cell assay revealed that C. albicans secretions significantly enhanced the permeability of Caco-2 cells. CONCLUSIONS: The current study is the first to explore altered gut mycobiome dysbiosis using the NGS platform in ADHD. The findings from this study indicated that dysbiosis of the fungal mycobiome and intestinal permeability might be associated with susceptibility to ADHD.

Dispensing of psychotropic medications to Australian children and adolescents before and during the COVID-19 pandemic, 2013-2021: a retrospective cohort study.

OBJECTIVE: To determine longitudinal patterns of dispensing of antidepressant, anxiolytic, antipsychotic, psychostimulant, and hypnotic/sedative medications to children and adolescents in Australia during 2013-2021. DESIGN: Retrospective cohort study; analysis of 10% random sample of Pharmaceutical Benefits Scheme (PBS) dispensing data. PARTICIPANTS, SETTING: People aged 18 years or younger dispensed PBS-subsidised psychotropic medications in Australia, 2013-2021. MAIN OUTCOME MEASURES: Population prevalence of dispensing of psychotropic medications to children and adolescents, by psychotropic class, gender, and age group (0-6, 7-12, 13-18 years). RESULTS: The overall prevalence of psychotropic dispensing to children and adolescents was 33.8 per 1000 boys and 25.2 per 1000 girls in 2013, and 60.0 per 1000 boys and 48.3 per 1000 girls in 2021. The prevalence of psychotropic polypharmacy was 5.4 per 1000 boys and 3.7 per 1000 girls in 2013, and 10.4 per 1000 boys and 8.3 per 1000 girls in 2021. Prevalent dispensing during 2021 was highest for psychostimulants (boys, 44.0 per 1000; girls, 17.4 per 1000) and antidepressants (boys, 20.4 per 1000; girls, 33.8 per 1000). During 2021, the prevalence of dispensing was higher than predicted by extrapolation of 2013-2019 data for many classes, including antidepressants (boys: +6.1%; 95% CI, 1.1-11.1%; girls: +22.2%; 95% CI, 17.4-26.9%), and psychostimulants (boys: +14.5%; 95% CI, 8.0-21.1%; girls: +27.7%; 95% CI, 18.9-36.6%). The increases were greatest for girls aged 13-18 years (antidepressants: +20.3%; 95% CI, 16.9-23.7%; psychostimulants: +39.0%; 95% CI, 27.9-50.0%). CONCLUSIONS: The prevalence of both psychotropic dispensing and psychotropic polypharmacy for children and adolescents were twice as high in 2021 as in 2013. The reasons and appropriateness of the marked increases in psychotropic dispensing during the COVID-19 pandemic, particularly to adolescent girls, should be investigated.

Incidence of mental disorders in the general population aged 1-30 years disaggregated by gender and socioeconomic status.

PURPOSE: The objective of this study was to estimate the incidence and age of onset of mental disorders diagnosed by gender and socioeconomic status (SES) in children, adolescents, and young adults up to 30 years of age in the whole population of the Basque Country (Spain). METHODS: All mental health diagnoses documented in Basque Health Service records from 1 January 2003 to 31 December 2018, were classified into eight clusters: anxiety, attention deficit hyperactivity disorder (ADHD), conduct disorders, depression, psychosis/personality disorders, substance use, eating disorders, and self-harm. We calculated incidence and cumulative incidence for each cluster, disaggregated by gender, and socioeconomic status (SES). Poisson regression analyses were performed. RESULTS: Overall, 9,486,853 person-years of observation were available for the 609,281 individuals included. ADHD and conduct disorders were diagnosed in the first decade, anxiety and depression disorders in the second and third decades, and psychosis/personality and substance use in the third. The cumulative incidence at 18 years of age for any type of disorder was 15.5%. The group with low SES had a statistically significantly higher incidence of all eight clusters. The incidence of ADHD, conduct disorders, depression, psychosis/personality disorders, and substance use was higher in males and that of anxiety, eating disorders and self-harm was higher in females. CONCLUSIONS: The incidence of mental disorders is high among children, adolescents, and young adults in the Basque Country underlining the need for preventive interventions. Marked differences by gender and SES highlight mental health inequalities, especially for depression and psychosis in low SES males.

Single parent adoption in India: Mental health and legal perspectives and the way forward.

Single parent adoption (SPA) is a relatively new construct worldwide and in India. The Ministry of Women and Child Development, Government of India, has laid down criteria for adoption in general and SPA in particular, in conjunction with the Juvenile Justice Act (Care and Protection of Children), 2015. There is scant literature on this topic of SPA, more so in India, that looks into the various psychological nuances of SPA from a mental health professional's (MHP) perspective. This review paper aims to assess SPA from the perspective of a MHP that will focus on its various legal nuances as well as the psychological connotations attached to it. For this, a search strategy was employed that included a thorough literature search from two databases (PubMed and Google Scholar) with relevant keywords related to the topic. The various legal issues pertaining to SPA in the current scenario, the psychological issues and challenges faced by single parents, the behavioral outcomes of adoptees who are adopted by single parents, and ways to deal with the various obstacles of SPA are discussed.