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The transfer from child and adolescent mental health services (CAMHS) to adult mental health services (AMHS) can be challenging, particularly for adolescents with neurodevelopmental disorders (NDDs) requiring long-term follow-up.
Aims
To examine the transfer process from CAMHS to AMHS in a university hospital in Türkiye, focusing on challenges, service gaps and barriers to transfer for individuals with NDDs.
Method
Hospital records of children with NDDs followed in CAMHS for at least 5 years were reviewed. Children with at least one annual admission until 2017–2018 were included. A total of 211 patients were categorised into two groups: those who transferred to AMHS by 2018–2019 (transferred group, 81 patients) and those who did not transfer (non-transferred group, 130 patients). Clinical features, such as primary diagnosis and treatments, were compared, and parental views on the transfer process were collected via telephone interviews.
Results
The transferred group included 81 patients (38.4%), whereas the non-transferred group had 130 patients (61.6%). Of the total sample, 55 (26.1%) were female, and 156 (73.9%) were male. Primary diagnoses were similar between groups; however, the transferred group had more comorbidities (P < 0.001) and more frequent antipsychotic prescriptions (P = 0.006). Proactive information from CAMHS doctors (B = 2.46, s.e. = 0.68, P < 0.001) and psychiatric comorbidities predicted transfer. In addition, attention-deficit hyperactivity disorder diagnoses changed during transfer in the transferred group (P = 0.002).
Conclusion
These findings emphasise the need for tailored transition support to enhance mental healthcare for NDD patients and indicate areas where further research is required to address healthcare barriers.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterised by impairments in social communication, repetitive behaviours, and restricted interests. Emerging evidence suggests that immune system dysregulation, particularly alterations in the complement system, may contribute to ASD pathophysiology. This study aimed to compare the serum levels of complement proteins (C1q, C2, C3, C4, MBL, L-ficolin, and hsCRP) between children with ASD and non-ASD controls. A total of 88 children (44 with ASD and 44 age- and sex-matched healthy controls) participated in this study. Complement protein levels were measured using enzyme-linked immunosorbent assay (from serum samples. The severity of ASD symptoms was assessed using standardised diagnostic tools, including the Childhood Autism Rating Scale, the Autism Behaviour Checklist, and the Repetitive Behaviour Scale-Revised. Serum C1q levels were significantly lower in the ASD group (p < 0.001). C3 levels were lower (p = 0.033), while C2 levels were slightly higher (p = 0.015) in the ASD group. There are no significant differences in C4, MBL, or L-ficolin levels. Logistic regression analysis identified reduced C1q levels as a significant predictor of ASD (p = 0.001). However, this study found no significant correlations between complement levels and ASD symptom severity scores. The findings suggest that alterations in complement system proteins, particularly reduced serum C1q levels, may be associated with ASD. Given C1q’s critical role in synaptic pruning and neuroimmune regulation, these results support the hypothesis that complement system dysfunction may contribute to the pathophysiology of ASD.
Co-speech gestures accompany or replace speech in communication. Studies investigating how autistic children understand them are scarce and inconsistent and often focus on decontextualized, iconic gestures. This study compared 73 three- to twelve-year-old autistic children with 73 neurotypical peers matched on age, non-verbal IQ, and morphosyntax. Specifically, we examined (1) their ability to understand deictic (i.e., pointing), iconic (e.g., gesturing ball), and conventional (e.g., gesturing hello) speechless video-taped gestures following verbal information in a narrative and (2) the impact of linguistic (e.g., vocabulary, morphosyntax) and cognitive factors (i.e., working memory) on their performance, to infer on the underlying mechanisms involved. Autistic children displayed overall good performance in gesture comprehension, although a small but significant difference advantage was observed in neurotypical children. Findings suggest that combining speech and gesture sequentially may be relatively spared in autism and might represent a way to alleviate the demand for simultaneous cross-modal processing.
Within the medical model, ‘impairment’ is required for a diagnosis of autism. However, the diagnostic manuals provide limited guidance as to how to interpret impairment, which can impact diagnostic rates and the provision of support. Impairment is discussed within the context of the medical model and current sociocultural landscape.
Autism spectrum disorder is defined by the presence of sustained problems in areas of social cognition and social understanding alongside repetitive and/or restricted patterns of behaviour. Behavioural presentations and developmental trajectories in autism are highly heterogeneous. For most, characteristics variably continue across the lifespan, and, for many, they overlap with numerous overrepresented comorbid combinations spanning behavioural, psychiatric and somatic domains. The current autism diagnostic systems (DSM-5, ICD-11) reflect this heterogeneity, focusing on discerning different assistance needs and symptom severity combinations. An emerging view on the pluralisation of autism – ‘the autisms’ – based on different severity levels and different developmental trajectories is gaining popularity, bolstered by the introduction of the grouping ‘profound autism’ and observations of non-persistence of autism for some. We advance the case for expanding the definition of the plural autisms based also on the numerous different aetiological routes that can lead to autism. Various genetic conditions, susceptibility to infectious agents, non-infectious environmental exposures and immune-mediated occurrences have all been observed to culminate in a diagnosis of autism. As a triad, aetiology, presentation intensity and developmental trajectory offer new ways to classify the autisms, with potentially important implications for research and practice.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with significant social, communicative, and behavioral challenges, and its prevalence is increasing globally at an alarming rate. Children with ASD often have nutritional imbalances, and multiple micronutrient deficiencies. Among these, zinc (Zn2+) deficiency is prominent and has gained extensive scientific interest over the past few years. Zn2+ supports numerous proteins, including enzymes and transcription factors, and controls neurogenesis and cell differentiation. It modulates synaptic transmission and plasticity by binding to receptors, ion channels, and transporters. These interactions are crucial, as changes in these processes may contribute to cognitive and behavioral abnormalities in neurodevelopmental disorders, including ASD. Notably, mutations in genes linked to ASD result in Zn2+ dyshomeostasis, altering pivotal biological processes. In addition, Zn2+ promotes gut health by maintaining gut wall integrity, preventing inflammation and leaky gut, preventing translocation of gut bacteria and their metabolites into systemic circulation, and supporting cognitive processes via the gut–brain axis. Zn2+ deficiency during pregnancy alters gut microbiota composition, induces pro-inflammatory cytokine production, may affect neuronal functioning, and is associated with ASD etiology in offspring, as well as the exacerbation of autistic traits in genetically predisposed children. This review focuses on Zn2+ dyshomeostasis, discussing various Zn2+-dependent dysfunctions underlying distinct autistic phenotypes and describing recent progress in the neurobiology of individuals with ASD and animal models.
Children and adolescents diagnosed with autism spectrum disorder (ASD) present feeding problems that may influence food acceptance and refusal. However, data regarding dietary intake variability in this population are either not available in the literature or not well-known. This cross-sectional study aimed to identify the within-person and between-person variability, and the number of days needed for a 24-hour recall (24HR) to estimate the usual intake of children and adolescents with ASD. Data were collected from 284 patients assisted at a public neuropediatric health service in the city of Pelotas, Southern Brazil. Food consumption was assessed using three non-consecutive 24HR. Within-person (S2w) and between-person (S2b) variances, the variance ratio (VR) and the distribution of energy, macronutrients and micronutrients were obtained using the Multiple Source Method® (version 1.0.1). The number of days of 24HR needed was calculated for correlation coefficients of 0·7, 0·8 and 0·9. For most nutrients, S2w was greater than S2b, resulting in VR > 1, except for age-group analyses where children up to 5 years old showed VR < 1. Two to three days of 24HR were estimated for most nutrients, considering a correlation coefficient of 0·8. Differences were observed according to sex and age group, with adolescents requiring more days of 24HR. These findings indicate the need to assess dietary variability among individuals with ASD according to the characteristics of this investigated population.
Autism spectrum disorder and intellectual developmental disorder are often comorbidly diagnosed, but many adults meet criteria for just one of these disorders. Broad approaches include applied behavior analysis, cognitive-behavioral therapy, mindfulness based therapy, social skills interventions, and employment-related interventions. A sidebar discusses co-occurring mental health conditions.
Autism spectrum disorder (ASD) is defined by the American Psychiatric Association as persistent deficits in social communication and interactions and restricted, repetitive patterns of behavior, interests, or activities. There are many potential etiological causes for ASD. In the United States, the combined prevalence of ASD per 1,000 children was 23 in 2018. The American Academy of Pediatrics (AAP) recommends screening specifically for ASD during regular doctor visits at 18 and 24 months to ensure systematic monitoring for early signs of ASD. Most reported concerns from parents relate to abnormal childhood developmental trajectory and history of unusual behaviors, with variability in ages when features suggestive of ASD are most noticeable. Behavioral interventions for ASD focus on minimizing the effects of developmental delays and maximizing speech/language, motor, social-emotional, and cognitive skills. Medications can be used to target comorbid conditions or problematic behaviors that interfere with progress or pose safety concerns. The financial burden on families of children with ASD is correlated with the existing societal financial safety net. Poorer outcomes are expected when the family carries a substantial share of the cost to support the development of children with ASD, especially in lower-income households.
Music therapy attempts to facilitate communication and expression – core problems for autistic people – through the development of experiences and relationships mediated by music. This commentary assesses a Cochrane Review of the effects of music therapy, compared with placebo or standard care, for autistic people, and its conclusion that music therapy is probably associated with an increased chance of global improvement and perhaps a slight increase in quality of life and reduction in total autism symptom severity in the short to medium term. The review was not able to examine longer-term effects as the longest follow-up period was 12 months. The certainty of the evidence was graded from moderate to very low, and therefore the results need to be viewed with caution.
The hikikomori phenomenon has recently gained growing global interest, and evidences of its association with other psychopathological dimensions are slowly but steadily emerging. We aimed to evaluate the presence and correlates of hikikomori tendencies in an Italian University population, focusing on its relationships with autism spectrum, pathological computer gaming, and eating disorders. In particular, to our knowledge, no study has yet systematically evaluated the latter association, using psychometric instruments tailored to assess eating disorder symptoms.
Methods
2574 students were recruited via an online survey. All participants were assessed with the Hikikomori Questionnaire-25 (HQ-25), the Adult Autism Subthreshold Spectrum Questionnaire (AdAS Spectrum), the Eating Attitude test-26 (EAT-26), and the Assessment of Internet and Computer Game Addiction (AICA-S).
Results
The results outlined how hikikomori risk was significantly correlated to autistic dimensions, altered eating behaviors, and videogame addiction. The closest relationship was detected with the autism spectrum. Interestingly, pathological computer gaming, most autistic dimensions, and EAT-26 oral control emerged as significant predictors of a greater risk for hikikomori, while the proneness to inflexibility and adherence to routine emerged as negative predictors.
Conclusions
Our findings support the association among hikikomori, autism spectrum, pathological computer game use, and eating disorder symptoms.
The prenatal and early-life periods pose a crucial neurodevelopmental window whereby disruptions to the intestinal microbiota and the developing brain may have adverse impacts. As antibiotics affect the human intestinal microbiome, it follows that early-life antibiotic exposure may be associated with later-life psychiatric or neurocognitive outcomes.
Aims
To explore the association between early-life (in utero and early childhood (age 0–2 years)) antibiotic exposure and the subsequent risk of psychiatric and neurocognitive outcomes.
Method
A search was conducted using Medline, PsychINFO and Excerpta Medica databases on 20 November 2023. Risk of bias was assessed using the Newcastle-Ottawa scale, and certainty was assessed using the grading of recommendations, assessment, development and evaluation (GRADE) certainty assessment.
Results
Thirty studies were included (n = 7 047 853 participants). Associations were observed between in utero antibiotic exposure and later development of autism spectrum disorder (ASD) (odds ratio 1.09, 95% CI: 1.02–1.16) and attention-deficit hyperactivity disorder (ADHD) (odds ratio 1.19, 95% CI: 1.11–1.27) and early-childhood exposure and later development of ASD (odds ratio 1.19, 95% CI: 1.01–1.40), ADHD (odds ratio 1.33, 95% CI: 1.20–1.48) and major depressive disorder (MDD) (odds ratio 1.29, 95% CI: 1.04–1.60). However, studies that used sibling control groups showed no significant association between early-life exposure and ASD or ADHD. No studies in MDD used sibling controls. Using the GRADE certainty assessment, all meta-analyses but one were rated very low certainty, largely owing to methodological and statistical heterogeneity.
Conclusions
While there was weak evidence for associations between antibiotic use in early-life and later neurodevelopmental outcomes, these were attenuated in sibling-controlled subgroup analyses. Thus, associations may be explained by genetic and familial confounding, and studies failing to utilise sibling-control groups must be interpreted with caution. PROSPERO ID: CRD42022304128
This editorial highlights increasing prevalence and treatment rates of apparently disparate disorders. We ask whether cross-disorder factors including greater mental health literacy, social media and a shift to psychiatric explanations for distress contribute to these trends. We highlight a consequence: the changing doctor–patient relationship and its impacts.
SCN2A encodes a voltage-gated sodium channel (designated NaV1.2) vital for generating neuronal action potentials. Pathogenic SCN2A variants are associated with a diverse array of neurodevelopmental disorders featuring neonatal or infantile onset epilepsy, developmental delay, autism, intellectual disability and movement disorders. SCN2A is a high confidence risk gene for autism spectrum disorder and a commonly discovered cause of neonatal onset epilepsy. This remarkable clinical heterogeneity is mirrored by extensive allelic heterogeneity and complex genotype-phenotype relationships partially explained by divergent functional consequences of pathogenic variants. Emerging therapeutic strategies targeted to specific patterns of NaV1.2 dysfunction offer hope to improving the lives of individuals affected by SCN2A-related disorders. This Element provides a review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these genetic conditions authored by leading experts in the field and accompanied by perspectives shared by affected families. This title is also available as Open Access on Cambridge Core.
Autism spectrum disorder (ASD) is a neurodevelopmental condition. Omega-3 fatty acid insufficiency has been linked to ASD. This umbrella meta-analysis was performed to investigate the effects of omega-3 supplementation on clinical manifestations in participants with ASD. Based on the PRISMA statement, databases including Web of Science, PubMed and Scopus were systematically searched for published meta-analyses on the effect of omega-3 supplementation on ASD up to December 2023. To assess the risk of bias, the assessment of multiple systematic reviews (AMSTAR)-2 was utilised. The outcomes were core and non-core symptoms of ASD including social withdrawal/lethargy, cluttering speech, hyperactivity, irritability and stereotypy. Seven meta-analyses eventually remained in the umbrella review. The results revealed that omega-3 fatty acid supplementation caused a significant reduction in cluttering speech in studies conducted on age ≤8 years (effect size (ES) −0·30; 95% confidence interval (CI) −0·55, −0·06; P = 0·02). Omega-3 supplementation caused a significant reduction in hyperactivity in participants ≤8 years (ES −0·30; 95% CI −0·55, −0·06; P = 0·02) and in participants who received the supplements for more than 14 weeks (ES −0·30; 95% CI −0·55, −0·06; P = 0·02). A dosage of ≤1000 mg/d of omega-3 supplementation led to a significant increase in the stereotypy/restricted and repetitive interests and behaviours (ES 0·19; 95% CI 0·03, 0·35; P = 0·02). This umbrella review revealed that omega-3 fatty acid may be a beneficial supplement to control cluttering speech and hyperactivity in children with ASD who are 8 years old or younger.
The Zones of Regulation (The Zones) is an 18-lesson curriculum that is aimed at helping students develop an awareness of emotions and skills for regulation. Although used by schools globally, no peer-reviewed evidence currently exists to support the use of The Zones. The purpose of this study was to examine the experiences of teachers implementing The Zones curriculum with autistic students. Feedback was gathered from 26 teachers throughout their implementation of The Zones. In this study, we employed a qualitative methodology to analyse the feedback from teachers. Descriptive statistics were used to report on acceptability, appropriateness, and feasibility. Our findings revealed that teachers described high levels of acceptability, appropriateness, and feasibility when reflecting on the delivery of The Zones. However, teachers reported that The Zones was not suitable for all students and classrooms. For students for whom The Zones was deemed appropriate, teachers modified the lessons and required peer support to deliver these modifications. With modifications, the teachers observed growth in areas such as students’ comprehension of others’ emotions and improved language around emotions. This study highlights the importance of further research to refine and tailor interventions like The Zones to better meet the diverse needs of autistic students in educational settings.
Despite mounting evidence linking neurological diseases with climate change, the link between autism spectrum disorder (ASD) and global warming has yet to be explored.
Aims
To examine the relationship between the incidence of ASD and global warming from 1990 to 2019 and estimate the trajectory of ASD incidence from 2020 to 2100 globally.
Method
We extracted meteorological data from TerraClimate between 1990 and 2019. To estimate the association between global ASD incidence and temperature variation, we adopted a two-stage analysis strategy using a generalised additive regression model. Additionally, we projected future ASD incidence under four representative shared socioeconomic pathways (SSPs: 126, 245, 370 and 585) by bootstrapping.
Results
Between 1990 and 2019, the global mean incidence of ASD in children under 5 years old was 96.9 per 100 000. The incidence was higher in males (147.5) than in females (46.3). A 1.0 °C increase in the temperature variation was associated with a 3.0% increased risk of ASD incidence. The association was stronger in boys and children living in a low/low-middle sociodemographic index region, as well as in low-latitude areas. According to the SSP585 scenario, by 2100, the children living in regions between 10 and 20° latitude, particularly in Africa, will experience a 68.6% increase in ASD incidence if the association remains. However, the SSP126 scenario is expected to mitigate this increase, with a less than 10% increase in incidence across all latitudes.
Conclusions
Our study highlights the association between climate change and ASD incidence worldwide. Prospective studies are warranted to confirm the association.
Effective collaboration between key stakeholders increases the educational opportunities and outcomes of students with autism spectrum disorder (ASD). Although the value of collaboration between the central members of a student’s network has been widely cited, how collaboration occurs between different stakeholder groups in the education of Australian primary and secondary students with ASD is not widely known. The aim of this review was to identify the factors that influence collaborative practices between three primary stakeholder groups supporting the education of Australian students with ASD: family, school, and community. Through this lens, we analysed the intent of the collaborative practices as well as the specific details of the collaborative practices identified across the research literature published since the implementation of the Disability Standards for Education 2005 (Commonwealth of Australia, 2006). Results from this review indicate existing motivations and processes of collaboration, as well as directions for future research and practice.
3q29 deletion syndrome (3q29del) is a rare (~1:30 000) genomic disorder associated with a wide array of neurodevelopmental and psychiatric phenotypes. Prior work by our team identified clinically significant executive function (EF) deficits in 47% of individuals with 3q29del; however, the nuances of EF in this population have not been described.
Methods
We used the Behavior Rating Inventory of Executive Function (BRIEF) to perform the first in-depth assessment of real-world EF in a cohort of 32 individuals with 3q29del (62.5% male, mean age = 14.5 ± 8.3 years). All participants were also evaluated with gold-standard neuropsychiatric and cognitive assessments. High-resolution structural magnetic resonance imaging was performed on a subset of participants (n = 24).
Results
We found global deficits in EF; individuals with 3q29del scored higher than the population mean on the BRIEF global executive composite (GEC) and all subscales. In total, 81.3% of study subjects (n = 26) scored in the clinical range on at least one BRIEF subscale. BRIEF GEC T scores were higher among 3q29del participants with a diagnosis of attention deficit/hyperactivity disorder (ADHD), and BRIEF GEC T scores were associated with schizophrenia spectrum symptoms as measured by the Structured Interview for Psychosis-Risk Syndromes. BRIEF GEC T scores were not associated with cognitive ability. The BRIEF-2 ADHD form accurately (sensitivity = 86.7%) classified individuals with 3q29del based on ADHD diagnosis status. BRIEF GEC T scores were correlated with cerebellar white matter and subregional cerebellar cortex volumes.
Conclusions
Together, these data expand our understanding of the phenotypic spectrum of 3q29del and identify EF as a core feature linked to both psychiatric and neuroanatomical features of the syndrome.
The production of speech and gesture is exquisitely temporally coordinated. In autistic individuals, speech-gesture synchrony during spontaneous discourse is disrupted. To evaluate whether this asynchrony reflects motor coordination versus language production processes, the current study examined deliberately performed hand movements during speech in youth with autism spectrum disorder (ASD) compared to neurotypical youth. Neurotypical adult performance provided a mature baseline. Participants read aloud rhythmic nursery rhymes, while producing a beat-like hand movement. An automated pixel-change video measure identified kinematic peaks; using smoothed acoustic envelope analyses, we identified peaks in speech. Results indicated few diagnostic group differences in explicit speech-movement coordination, although adolescent performance differed from adults. Adults demonstrated higher tempo and greater rhythmicity in their coordination; this group difference suggests that the method is sufficiently subtle to reveal individual differences and that this form of complex coordination undergoes ongoing maturation beyond adolescence. The sample is small, and thus results are necessarily preliminary. In the context of prior speech-gesture coordination studies, these findings of intact synchrony are consistent with the hypothesis that it is the demands of discourse planning, rather than motor coordination, that have led to prior findings of asynchrony during spontaneous speech; this possibility awaits future research.