1. Dieterich K. PNS or not PNS, a dilemma of the post-genomic era in neurogenic developmental disorders. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2022; 37: A3.

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2. Gilmore R, Ziviani J, Chatfield MD, Goodman S, Sakzewski L. Social skills group training in adolescents with disabilities: A systematic review. Research in developmental disabilities. 2022; 125: 104218.

BACKGROUND: Group social skills interventions (GSSIs) are offered to youth with Autism Spectrum Disorder (ASD) to improve social functioning. This systematic review focused on the adolescent population, including a wider range of disabilities. AIMS: To evaluate effectiveness of GSSIs at improving social functioning in adolescents with congenital, acquired or developmental disabilities. METHODS AND PROCEDURES: Databases, trial registries and dissertations were systematically searched and a meta-analysis of randomized controlled trials conducted. Study screening, risk-of-bias assessment and Grading of Recommendations Assessment, Development and Evaluation were completed. OUTCOMES AND RESULTS: Sixteen studies (n = 1119), 15 with adolescents with ASD and one with brain tumor survivors, revealed GSSIs reduced social impairment on the Social Responsiveness Scale (mean difference (MD) 9.68, 95% CI 5.63-13.73; P < 0.001), increased social skills on the Social Skill Improvement System Rating Scales (SMD 0.38, 95% CI 0.10-0.65; P = 0.007), and improved adolescent social knowledge on the Test of Adolescent Social Skills (MD 7.43 points, 95% CI 5.36-9.50; P < 0.001). CONCLUSIONS AND IMPLICATIONS: There is moderate certainty evidence that GSSIs improve social responsiveness, social skills and knowledge, and low certainty of evidence to improve social participation for adolescents with ASD. High quality randomized studies are required to inform clinical practice with adolescents with other disabilities. WHAT THIS PAPER ADDS: Current evidence for group social skills interventions (GSSIs) is for adolescents with autism (ASD). GSSIs likely improve social knowledge and reduce impairments in adolescents with ASD, however the effect of GSSIs on social participation is not well understood. Only one randomized trial investigated GSSIs in another population of adolescents, highlighting the need for more high-quality studies including adolescents with other disabilities.

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3. Green J, Leadbitter K, Ellis C, Taylor L, Moore HL, Carruthers S, James K, Taylor C, Balabanovska M, Langhorne S, Aldred C, Slonims V, Grahame V, Parr J, Humphrey N, Howlin P, McConachie H, Couteur AL, Charman T, Emsley R, Pickles A. Combined social communication therapy at home and in education for young autistic children in England (PACT-G): a parallel, single-blind, randomised controlled trial. The lancet Psychiatry. 2022; 9(4): 307-20.

BACKGROUND: Autistic children can have difficulty generalising treatment effects beyond the immediate treatment context. Paediatric Autism Communication Therapy (PACT) has been successful when delivered in the clinic. Here we tested the Paediatric Autism Communication Therapy-Generalised (PACT-G) intervention combined between home and education settings for its overall effect and mechanistic transmission of effect across contexts. METHODS: In this parallel, single-blind, randomised, controlled trial, we recruited autistic children aged 2-11 years in urban or semi-urban areas in Manchester, Newcastle, and London, England. Children needed to meet core autism criteria on Autism Diagnostic Observation Schedule-second edition (ADOS-2) and parent-rated Social Communication Questionnaire (SCQ-lifetime), and children older than 5 years were included if they had intentional communication but expressive language equivalent of age 4 years or younger. Eligible children were randomly assigned (1:1), using block randomisation (random block sizes of 2 and 4) and stratified for site, age (2-4 years vs 5-11 years), and gender, to either PACT-G plus treatment as usual or treatment as usual alone. Research assessors were masked to treatment allocation. The PACT-G intervention was delivered by a therapist in parallel to the child’s parents at home and to learning-support assistants (LSA) at their place of education, using both in-person and remote sessions over a 6 month period, to optimise adult-child social interaction. Treatment as usual included any health support or intervention from education or local community services. The primary outcome was autism symptom severity using the ADOS-2, as measured by researchers, at 12 months versus baseline. Secondary outcomes were Brief Observation of Social Communication Change (BOSCC) and dyadic social interaction between child and adult across contexts, both at 12 months. Other secondary outcome measures were assessed using the following composites: language, anxiety, repetitive behaviour, adaptive behaviour, parental wellbeing, child health-related quality of life, and disruptive behaviour. Assessments were done at baseline, 7 months, and 12 months. We used an intention-to-treat (ITT) analysis of covariance for the efficacy outcome measures. Adverse events were assessed by researchers for all trial families at each contact and by therapists in the PACT-G group at each visit. This study is registered with the ISRCTN Registry, ISRCTN 25378536. FINDINGS: Between Jan 18, 2017, and April 19, 2018, 555 children were referred and 249 were eligible, agreed to participate, and were randomly assigned to either PACT-G (n=122) or treatment as usual (n=127). One child in the PACT-G group withdrew and requested their data be removed from the study, giving an ITT population of 248 children. 51 (21%) of 248 children were female, 197 (79%) were male, 149 (60%) were White, and the mean age was 4•0 years (SD 0•6). The groups were well balanced for demographic and clinical characteristics. In the PACT-G group, parents of children received a median of 10 (IQR 8-12) home sessions and LSAs received a median of 8 (IQR 5-10) education sessions over 6 months. We found no treatment effect on the ADOS-2 primary outcome compared with treatment as usual (effect size 0•04 [95% CI -0•19 to 0•26]; p=0•74), or researcher-assessed BOSCC (0•03 [-0•25 to 0•31]), language composite (-0•03 [-0•15 to 0•10]), repetitive behaviour composite (0•00 [-0•35 to 0•35]), adaptive behaviour composite (0•01 [-0•15 to 0•18]), or child wellbeing (0•09 [-0•15 to 0•34]). PACT-G treatment improved synchronous response in both parent (0•50 [0•36 to 0•65]) and LSA (0•33 [0•16 to 0•50]), mediating increased child communication with parent (0•26 [0•12 to 0•40]) and LSA (0•20 [0•06 to 0•34]). Child dyadic communication change mediated outcome symptom alteration on BOSCC at home (indirect effect -0•78 [SE 0•34; 95% CI -1•44 to -0•11]; p=0•022) although not in education (indirect effect -0•67 [SE 0•37; 95% CI -1•40 to 0•06]; p=0•073); such an effect was not seen on ADOS-2. Treatment with PACT-G also improved the parental wellbeing composite (0•44 [0•08 to 0•79]) and the child disruptive behaviour composite in home and education (0•29 [0•01 to 0•57]). Adverse events on child behaviour and wellbeing were recorded in 13 (10%) of 127 children in the treatment as usual group (of whom four [31%] were girls) and 11 (9%) of 122 in the PACT-G group (of whom three [33%] were girls). One serious adverse event on parental mental health was recorded in the PACT-G group and was possibly study related. INTERPRETATION: Although we found no effect on the primary outcome compared with treatment as usual, adaptation of the 12-month PACT intervention into briefer multicomponent delivery across home and education preserved the positive proximal outcomes, although smaller in effect size, and the original pattern of treatment mediation seen in clinic-delivered therapy, as well as improving parental wellbeing and child disruptive behaviours across home and school. Reasons for this reduced efficacy might be the reduced dose of each component, the effect of remote delivery, and the challenges of the delivery contexts. Caution is needed in assuming that changing delivery methods and context will preserve an original intervention efficacy for autistic children. FUNDING: National Institute for Health Research and Medical Research Council Efficacy and Mechanism Evaluation Award.

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4. Heady N, Watkins A, John A, Hutchings H. Prevalence of neurodevelopmental disorders and their impact on the health and social well-being among looked after children (LAC): a systematic review protocol. Systematic reviews. 2022; 11(1): 49.

BACKGROUND: Looked after children (LAC) that are placed in either a foster, kinship, residential care setting or transition to adoption continue to develop debilitating disorders that significantly impact their overall health and social well-being. The prevalence of these disorders is often depicted under broad categories such as mental, behavioural or neurodevelopmental disorders (NDDs). Limited in research is the prevalence of what specific disorders fall under these broad categories. NDDs such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) which fall under an umbrella group in the expert field of genetics and neuropsychiatry will be explored. Unsupported, these disorders can lead to suboptimal health and social outcomes for both the child and family. In the general population, the prevalence of these NDDs and impacts on health and social well-being are relatively well documented, but for minority groups such as LAC, research is extremely limited. This review aims to estimate the prevalence of NDDs among LAC and explore how they might impact the health and social well-being of these vulnerable children. If feasible, the review will compare the prevalence rates to those children who are not looked after, to illuminate any differences or similarities between populations. METHODS: PubMed, ASSIA, IBSS, Web of Science, PsychINFO, Scopus, Psych articles, Social Care Online, secondary, grey literature and government publications will be searched to identify any eligible studies. No restrictions will be placed on country, design or year of publication. Studies must provide primary data on the prevalence or incidence of NDDs for individuals < 25 years of age, supported by either a diagnostic code, standardised diagnostic assessment tool or survey response. The Joanna Briggs Institute (JBI) critical appraisal tools will be utilised to assess the quality and bias and the random-effects model used to estimate a pooled prevalence of NDDs. DISCUSSION: Attaining an estimated prevalence of these NDDs and identifying any impacts on health and social well-being might inform key stakeholders in health, educational and social sectors with important information that might aid in the early identification and intervention to safeguard and meet the unique needs of these children. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD4201913103 .

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5. Hilton MN, Boulton KA, Kozlowska K, McClure G, Guastella AJ. The co-occurrence of neurodevelopmental disorders in gender dysphoria: Characteristics within a paediatric treatment-seeking cohort and factors that predict distress pertaining to gender. Journal of psychiatric research. 2022; 149: 281-6.

Gender dysphoria, characterised by distress associated with an incongruence between an individual’s assigned and experienced gender, is encountered in 1%-2% of children and adolescents. Recent findings suggest neurodevelopmental disorders (NDDs), including Autism, are frequently reported among youth with Gender Dysphoria. This study aims to explore the frequency of NDDs in children and adolescents presenting to a hospital-based gender service, and to investigate the contribution of autistic traits and general psychological distress to distress pertaining to gender. Sixty-four participants (mean age = 12.91 years) with Gender Dysphoria were recruited to this study. Self- and caregiver-report questionnaires were used to evaluate psychological distress, autistic traits, and distress pertaining to gender. Relative to the rest of the participants, the 13 (20.31%) with a co-occurring NDD diagnosis reported elevated autistic traits (p < .001). They did not differ in terms of psychological distress or distress pertaining to gender. A hierarchical linear regression revealed autistic traits alone did not contribute to the variability in distress pertaining to gender, whereas general psychological distress accounted for 9.9% of the variability in distress pertaining to gender (p = .012). The current findings indicate that NDD diagnoses are common in children and adolescents with Gender Dysphoria who attend hospital-based services. Psychological distress, rather than autistic traits, contributes more variability in distress pertaining to gender. Taken together, these findings indicate the need to consider NDDs in treatment plans but also to focus on the important relationship between psychological distress and Gender Dysphoria.

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6. Klang A, Westerberg B, Humble MB, Bejerot S. The impact of schizotypy on quality of life among adults with autism spectrum disorder. BMC psychiatry. 2022; 22(1): 205.

BACKGROUND: Autism spectrum disorder (ASD) and schizotypal personality disorder can be difficult to distinguish. Deficits in social relationships and social interaction, present in both conditions, are known to impair quality of life. The aim of the present study was to investigate if schizotypal symptoms affect quality of life among adults diagnosed with autism spectrum disorder and to study the association between schizotypy and autistic traits among them. METHODS: Participants diagnosed with autism spectrum disorder (n = 110) completed questionnaires exploring schizotypy (Schizotypal Personality Questionnaire – Brief Revised (SPQ-BR)), autistic traits (The Ritvo Autism, Asperger Diagnostic Scale-Revised Screen 14 items), anxiety and depression (The Hospital Anxiety and Depression scale) and quality of life (Brunnsviken Brief Quality of Life Scale and the European quality of life index version 5D). RESULTS: Schizotypy was found to be associated with anxiety, depressive and autistic symptoms, and poor quality of life. Although schizotypy was a predictor for impaired quality of life, this relationship was mediated by symptoms of anxiety and depression, plausibly inherent to autism. Autistic traits were positively associated with all higher order constructs of the SPQ-BR, i.e. positive and negative schizotypy, disorganization and social anxiety, as well as with poor quality of life. CONCLUSIONS: There is considerable overlap between schizotypy and autism that needs to be considered in research. Prominent schizotypal traits in people with ASD may constitute an endophenotype coinciding with a particularly poor quality of life. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT03570372 : Internet-based Treatment for Adults with Autism Spectrum Disorder (MILAS).

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7. Shaw SCK, Doherty M, McCowan S, Davidson IA. Challenging the exclusion of autistic medical students. The lancet Psychiatry. 2022; 9(4): e18.

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8. Yang J, He X, Qian L, Zhao B, Fan Y, Gao F, Yan B, Zhu F, Ma X. Association between plasma proteome and childhood neurodevelopmental disorders: A two-sample Mendelian randomization analysis. EBioMedicine. 2022; 78: 103948.

BACKGROUND: Childhood neurodevelopmental disorders, including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS), comprise a major cause of health-related disabilities in children. However, biomarkers towards pathogenesis or novel drug targets are still limited. Our study aims to provide a comprehensive investigation of the causal effects of the plasma proteome on ASD, ADHD, and TS using the two-sample Mendelian Randomization (MR) approach. METHODS: Genetic associations with 2994 plasma proteins were selected as exposures and genome-wide association data of ASD, ADHD, TS were utilized as outcomes. MR analyses were carried out using the inverse-variance weighted method, and the MR-Egger and weighted median methods were used for sensitivity analysis. FINDINGS: Using single-nucleotide polymorphisms as instruments, the study suggested increased levels of MAPKAPK3 (OR: 1.09; 95% CI: 1.05-1.13; P = 1.43 × 10(-6)) and MRPL33 (OR: 1.07; 95% CI: 1.04-1.11; P = 5.37 × 10(-6)) were causally associated with a higher risk of ASD, and increased MANBA level was associated with a lower risk of ADHD (OR: 0.91; 95% CI: 0.88-0.95; P = 8.97 × 10(-6)). The causal associations were robust in sensitivity analysis, leave-one-out analysis and Multivariable MR, and no pleiotropy was observed. No significant risk protein was identified for TS. INTERPRETATION: The study findings support the idea that the MAPK/ERK signaling pathway and mitochondrial dysfunction are involved in the pathogenesis of ASD, while a deficiency in beta-mannosidase might play a role in the development of ADHD. FUNDING: Natural Science Basic Research Program of Shaanxi (2021JQ-390).

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