1. Boshoff K, Bowen-Salter H, Gibbs D, Phillips RL, Porter L, Wiles L. A meta-synthesis of how parents of children with autism describe their experience of accessing and using routine healthcare services for their children. Health & social care in the community. 2021; 29(6): 1668-82.

In order to present a greater understanding to parental experiences of supporting their child with autism to access healthcare services, a systematic review of qualitative research was undertaken, addressing the review question: ‘How do parents of children with autism describe their experiences of utilising routine healthcare services?’. After a systematic search and selection process, 12 studies were identified and appraised independently by paired reviewers using an adapted version of the Critical Appraisal Skills Programme (CASP) tool. Data were synthesised by two reviewers in line with the Joanna Briggs Approach for meta-aggregation. The 12 studies included in this review (spanning 2012-2020), represented the voices of 240 parents. The synthesis resulted in the following synthesised finding (based on four categories that emerged from the original studies’ themes): parents report challenges in accessing and use of mainstream health services, for their child with autism, due to not having a voice, inadequate communication and lack of understanding from health service providers. This review raises our awareness of parents’ experiences of healthcare services and will assist healthcare practitioners to reconsider their own communication style, understanding and approach with children with autism and their families. From these findings, we recommend that healthcare practitioners more readily incorporate parents’ contributory expertise into healthcare visits. These recommendations will help facilitate effective, supportive and positive healthcare experiences for all involved.

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2. Burkett K, Kamimura-Nishimura KI, Suarez-Cano G, Ferreira-Corso L, Jacquez F, Vaughn LM. Latino-to-Latino: Promotores’ Beliefs on Engaging Latino Participants in Autism Research. Journal of racial and ethnic health disparities. 2021.

BACKGROUND: In Latino(a) communities, promotores de salud (i.e., community health workers; promotores) are becoming critical participants in prevention, health promotion, and the delivery of health care. Although involving culturally diverse participants in research is a national priority, recruitment and retention of research participants from these groups is challenging. Therefore, there is an increased need to identify strategies for successful recruitment of participants from underrepresented minority backgrounds. Our overall study purpose was to gain promotores’ perspectives on recruiting Latino(a) immigrant community members for an intervention study on autism spectrum disorders (ASD). The goal of this paper is to explore insider promotores’ views on the barriers and facilitators to research participation in the Latino(a) community and learn strategies for recruiting Latino(a) participants in a nontraditional destination city. METHODS: We conducted qualitative focus groups with an established group of promotores known as Latinos Unidos por la Salud (LU-Salud), who were members of a community-academic research team. Fifteen LU-Salud promotores participated in the focus groups. Focus group interviews were analyzed by using Leininger’s data analysis enabler. These results will inform our partnerships with promotores and Latino(a) neighborhood agencies to increase recruitment for community-based research on promoting awareness of ASD among Latino(a) families. RESULTS: Promotores were credible community members able to gain community trust and committed to improving the health and well-being of their Latino(a) community, including involving them in research. Latino(a) research involvement meant facilitating community members’ engagement to overcome barriers of distrust around legal and health care systems. Challenges included legal uncertainties, language and literacy barriers, health knowledge, and economic hardship. Promotores also voiced the diversity of cultural practices (subcultures) within the Latino(a) culture that influenced: (1) research engagement, (2) guidance from promotores, (3) immersion in the Latino(a) community, and (4) health and well-being. Experienced promotores, who are living in a nontraditional migration area, believe the primary facilitator to increasing research involvement is Latino(a)-to-Latino(a) recruitment. CONCLUSIONS: These findings will aid in building partnerships to recruit participants for future studies that promote early recognition of ASD in the Latino(a) community.

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3. Cassidy SA, Bradley L, Cogger-Ward H, Rodgers J. Development and validation of the suicidal behaviours questionnaire – autism spectrum conditions in a community sample of autistic, possibly autistic and non-autistic adults. Molecular autism. 2021; 12(1): 46.

BACKGROUND: Autistic people and those with high autistic traits are at high risk of experiencing suicidality. Yet, there are no suicidality assessment tools developed or validated for these groups. METHODS: A widely used and validated suicidality assessment tool developed for the general population (SBQ-R), was adapted using feedback from autistic adults, to create the Suicidal Behaviours Questionnaire-Autism Spectrum Conditions (SBQ-ASC). The adapted tool was refined through nine interviews, and an online survey with 251 autistic adults, to establish clarity and relevance of the items. Subsequently, 308 autistic, 113 possibly autistic, and 268 non-autistic adults completed the adapted tool online, alongside self-report measures of autistic traits (AQ), camouflaging autistic traits (CAT-Q), depression (PHQ-9), anxiety (ASA-A), thwarted belongingness and perceived burdensomeness (INQ-15), lifetime non-suicidal self-injury, and the original version of the suicidality assessment tool (SBQ-R). Analyses explored the appropriateness and measurement properties of the adapted tool between the groups. RESULTS: There was evidence in support of content validity, structural validity, internal consistency, convergent and divergent validity, test-retest validity, sensitivity and specificity (for distinguishing those with or without lifetime experience of suicide attempt), and hypothesis testing of the adapted tool (SBQ-ASC) in each group. The structure of the SBQ-ASC was equivalent between autistic and possibly autistic adults, regardless of gender, or use of visual aids to help quantify abstract rating scales. LIMITATIONS: The samples involved in the development and validation of the adapted tool were largely female, and largely diagnosed as autistic in adulthood, which limits the generalisability of results to the wider autistic population. The SBQ-ASC has been developed for use in research and is not recommended to assess risk of future suicide attempts and/or self-harm. The SBQ-ASC has been designed with and for autistic and possibly autistic adults, and is not appropriate to compare to non-autistic adults given measurement differences between these groups. CONCLUSIONS: The SBQ-ASC is a brief self-report suicidality assessment tool, developed and validated with and for autistic adults, without co-occurring intellectual disability. The SBQ-ASC is appropriate for use in research to identify suicidal thoughts and behaviours in autistic and possibly autistic people, and model associations with risk and protective factors.

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4. Clary B, Marengo-Sorli E, Oude-Engberink A, Million E, Pavageau S, Amouyal M, Serayet P, Carbonnel F, Bourrel G, Lognos B. General practitioners must acquire skills to communicate with child with Autism Spectrum Disorder to regain their values and role in the follow-up – phenomenological study. Scandinavian journal of primary health care. 2021; 39(2): 214-21.

OBJECTIVE: To understand the perceptions and attitudes of general practitioners (GPs) regarding children with an Autism Spectrum Disorder (ASD). DESIGN: Phenomenological qualitative study. SETTING: Three focus groups, clinical settings. SUBJECTS: French GPs. MAIN OUTCOME MEASURES: 22 GPs took part in the study divided among three focus groups. They were volunteers to participate. Data were transcribed verbatim and analysed using a grounded theory data analysis, completed with a semiopragmatic analysis. RESULTS: Representing autism as a strange disorder in the doctor-patient relationship, GPs perceive a loss of sensory contact with the child with ASD that prevents the usual professional relationship between doctor and patient. They disengage themselves from monitoring the subject, concentrating on supporting the family. According to them, their role was to refer the patient to a specialist in the case of clinical intuition, but they have several reasons to give themselves time, all the more so because once the diagnosis is made, they lose sight of the patient and their place in the care pathway. GPs expressed the need to acquire skills and strategies to communicate with the autistic child to recover their role and values. CONCLUSION: GPs are disconcerted by the idea of communicating with children with ASD, as it takes them out of their usual professional benchmarks. They need communication tools that enable them to regain their role and relational value of the patient-centred approach. Beyond this, the question of the ‘ethics of care’ of the patient with a joint attention disorder is raised.KEY POINTSGPs are disconcerted with the idea of communicating with children with ASD.GPs need communication tools that enable them to regain their role and relational value of the patient-centred approach.The question of the ‘ethics of care’ of the patient with a joint attention disorder is raised.

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5. Coffey C, Sheehan D, Faigenbaum AD, Healy S, Lloyd RS, Kinsella S. Comparison of fitness levels between elementary school children with autism spectrum disorder and age-matched neurotypically developing children. Autism research : official journal of the International Society for Autism Research. 2021; 14(9): 2038-46.

Low physical fitness is associated with reduced physical activity and increased cardiovascular diseases. To date, limited research has compared physical fitness levels between children with and without autism spectrum disorder (ASD). Therefore, the primary aim was to investigate if differences in fitness levels exist between children with ASD and age-matched neurotypically developing children (ND). The second aim was to examine if age, sex, height and weight could be used to predict potential fitness levels. The third aim was to examine if the developmental trajectory of fitness is comparable between children with ASD and ND children. The modified Eurofit test battery was used to compare fitness levels between 244 children aged 4-13 years old (n = 152 ND and n = 92 ASD). Independent samples t tests and regression analyses were used to investigate differences in fitness levels between the two groups. The results indicated that statistically significant differences exist in fitness levels between children with ASD when compared to ND children across all ages, favoring the ND children, with small to large effect sizes noted (p < 0.05, d = 0.36-1.13). Regression analysis could not accurately predict fitness measurements in children with ASD but could for ND children. The developmental trajectories were significantly delayed on the 20 m sprint and standing broad jump for children with ASD when compared to ND children. Future studies should seek to address the disparities in physical fitness experienced by children with ASD by using relevant neuromuscular interventions.

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6. Czech H. Correction to: Hans Asperger, National Socialism, and « race hygiene » in Nazi-era Vienna. Molecular autism. 2021; 12(1): 45.

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7. Geurts HM, McQuaid GA, Begeer S, Wallace GL. Self-reported parkinsonism features in older autistic adults: A descriptive study. Autism : the international journal of research and practice. 2022; 26(1): 217-29.

Autistic adults without a suspected intellectual disability reported several motor features such as having tremors, and stiffness in one’s legs which are considered to be part of a complex of motor features called parkinsonism. This so-called parkinsonism was remarkably prevalent in middle-aged and older autistic adults in two independent studies (Dutch study: 50-81 years, 183 males, 113 females, all adulthood diagnoses; the USA study: 50-83 years, 110 females, 109 males, majority adulthood diagnosis). Parkinsonism can be part of the progressive motor disease-Parkinson’s disease. Therefore, it is important that future studies, including in-person neurological assessment, determine if (and if so, why) autistic adults who report these motor features are at increased risk for developing Parkinson’s disease.

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8. Likhitweerawong N, Boonchooduang N, Morakote W, Louthrenoo O. Scurvy mimicking as systemic lupus erythematosus. BMJ case reports. 2021; 14(6).

Scurvy is a disease caused by chronic vitamin C deficiency. The greater prevalence was found in the paediatric population with neurodevelopmental disorders such as autism spectrum disorders due to their restricted dietary intake. Our case reported a child with autism who presented with arthralgia and anaemia. Systemic lupus erythematosus was the first diagnostic impression, resulting in over investigation and delayed diagnosis of vitamin C deficiency. After the child was treated with ascorbic acid, the child’s symptoms resolved. This case highlighted the importance of developmental and nutritional history taking in the paediatric population. Furthermore, parents and physicians should be concerned about nutritional status, especially in children with restrictive dietary intake.

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9. Pender R, Fearon P, St Pourcain B, Heron J, Mandy W. Developmental trajectories of autistic social traits in the general population. Psychological medicine. 2021: 1-9.

BACKGROUND: Autistic people show diverse trajectories of autistic traits over time, a phenomenon labelled ‘chronogeneity’. For example, some show a decrease in symptoms, whilst others experience an intensification of difficulties. Autism spectrum disorder (ASD) is a dimensional condition, representing one end of a trait continuum that extends throughout the population. To date, no studies have investigated chronogeneity across the full range of autistic traits. We investigated the nature and clinical significance of autism trait chronogeneity in a large, general population sample. METHODS: Autistic social/communication traits (ASTs) were measured in the Avon Longitudinal Study of Parents and Children using the Social and Communication Disorders Checklist (SCDC) at ages 7, 10, 13 and 16 (N = 9744). We used Growth Mixture Modelling (GMM) to identify groups defined by their AST trajectories. Measures of ASD diagnosis, sex, IQ and mental health (internalising and externalising) were used to investigate external validity of the derived trajectory groups. RESULTS: The selected GMM model identified four AST trajectory groups: (i) Persistent High (2.3% of sample), (ii) Persistent Low (83.5%), (iii) Increasing (7.3%) and (iv) Decreasing (6.9%) trajectories. The Increasing group, in which females were a slight majority (53.2%), showed dramatic increases in SCDC scores during adolescence, accompanied by escalating internalising and externalising difficulties. Two-thirds (63.6%) of the Decreasing group were male. CONCLUSIONS: Clinicians should note that for some young people autism-trait-like social difficulties first emerge during adolescence accompanied by problems with mood, anxiety, conduct and attention. A converse, majority-male group shows decreasing social difficulties during adolescence.

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10. Rohn S, Novak Pavlic M, Rosenbaum P. Exploring the use of Halliwick aquatic therapy in the rehabilitation of children with disabilities: A scoping review. Child: care, health and development. 2021; 47(6): 733-43.

INTRODUCTION: Halliwick aquatic therapy is a rehabilitation intervention that is gaining popularity for people with disabilities. This scoping review provides an overview on the state of research about the impact of Halliwick aquatic therapy for children with disabilities. METHODS: Four electronic databases were searched to obtain research on the use of the Halliwick method for paediatric rehabilitation: Medline, CINAHL, Embase and PsycINFO. Potential citations were first screened by title and abstract, and full texts were then examined on the second round of screening. We analyzed the demographic details of their study population, how therapy was implemented (e.g., lesson frequency or structure), and what measurements were used, with measured variables mapped onto the domains of the framework for health of the WHO’s International Classification of Functioning, Disability and Health (ICF). RESULTS: Twenty-four publications met the inclusion criteria for this review. The majority of research included children with cerebral palsy (n = 12) or autism spectrum disorder (n = 8), with very few studies including other disabilities (n = 5). There was a wide variation in the number of lessons per study and how each lesson was structured. Fourteen studies lacked a control group. Looking at ICF domains, all 24 articles measured variables pertaining to body structure and functions, four looked for changes in performance of daily activities, four into ability to participate in social roles, and seven into changes in personal factors. CONCLUSION: There is no consensus on how the Halliwick method should be structured for participants, leaving a gap for future research on programme implementation. To shift our viewpoint beyond what a disability prevents to what one’s level of health and functioning allows, it is important to broaden the scope of research into the other ICF domains.

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11. Semino F, Schröter J, Willemsen MH, Bast T, Biskup S, Beck-Woedl S, Brennenstuhl H, Schaaf CP, Kölker S, Hoffmann GF, Haack TB, Syrbe S. Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder. Human mutation. 2021; 42(9): 1094-100.

SYNCRIP encodes for the Synaptotagmin-binding cytoplasmic RNA-interacting protein, involved in RNA-binding and regulation of multiple cellular pathways. It has been proposed as a candidate gene for neurodevelopmental disorders (NDDs) with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. We ascertained genetic, clinical, and neuroradiological data of three additional individuals with novel de novo SYNCRIP variants. All individuals had ID. Autistic features were observed in two. One individual showed myoclonic-atonic epilepsy. Neuroradiological features comprised periventricular nodular heterotopia and widening of subarachnoid spaces. Two frameshift variants in the more severely affected individuals, likely result in haploinsufficiency. The third missense variant lies in the conserved RNA recognition motif (RRM) 2 domain likely affecting RNA-binding. Our findings support the importance of RRM domains for SYNCRIP functionality and suggest genotype-phenotype correlations. Our study provides further evidence for a SYNCRIP-associated NDD characterized by ID and ASD sporadically accompanied by malformations of cortical development and myoclonic-atonic epilepsy.

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12. Solis M, Reutebuch CK, Falcomata T, Jimenez Z, Cravalho D. Reading Intervention for Students with ASD in the Middle Grades: An Alternating Treatment Study of Embedded Interests Reading and Expository Text Conditions. Developmental neurorehabilitation. 2022; 25(1): 45-58.

AIM: We conducted two separate but related multiple baseline with alternating treatment single-case design studies to investigate the effect of the same reading intervention for students with autism spectrum disorder being implemented under different conditions. METHOD: We conducted a researcher-implemented study in a public school (Study 1) and a teacher-implemented study in a specialized private charter school for children with ASD (Study 2). In each study, we compared a typical intervention approach with interest-based text intervention that included reading on each child’s interest area. The treatment included systematic vocabulary instruction and main-summarization strategy instruction. RESULTS: Findings from Study One showed consistent increases in comprehension and vocabulary outcomes compared to baseline. In Study Two the baselines phases were unstable with small differences in mean scores detected for vocabulary during the intervention phase favoring the interest-based treatment for three of four participants. CONCLUSION: The results across studies were mixed indicating the importance of taking into account contextual factors including student characteristics and learning environment.

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13. Syryn H, Hoorens A, Grammatikopoulos T, Deheragoda M, Symoens S, Vande Velde S, Van Biervliet S, Van Winckel M, Verloo P, Callewaert B, De Bruyne R. Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review. Clinical genetics. 2021; 100(4): 447-52.

Ciliopathies are a group of clinical and molecular heterogeneous conditions with pleiotropic manifestations affecting the central nervous system, renal, liver, skeletal, and ocular systems. Biallelic pathogenic variants in DCDC2 cause a ciliopathy primarily presenting with neonatal sclerosing cholangitis (NSC). Pathogenic variants in DCDC2 have further been reported in the context of nephronophthisis and non-syndromic recessive deafness. Polymorphisms in DCDC2 have also been associated with dyslexia and DCDC2 has a role in neuronal development. We report on two unrelated patients with DCDC2-related NSC with additional central nervous system impairment manifesting as microcephaly, global developmental delay, and axial hypotonia. Histological findings of our patients can mimic biliary atresia or congenital hepatic fibrosis. We further show that transmission electron microscopy in patients with NSC does not always show absence of primary cilia. Hence patients with DCDC2 pathogenic variants should also undergo an evaluation of neuromotor development. Review of all reported patients further reveals a risk for supra-aortic arterial aneurysms.

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14. Wang HG, Bavley CC, Li A, Jones RM, Hackett J, Bayleyen Y, Lee FS, Rajadhyaksha AM, Pitt GS. Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors. JCI insight. 2021; 6(15).

SCN2A, encoding the neuronal voltage-gated Na+ channel NaV1.2, is one of the most commonly affected loci linked to autism spectrum disorders (ASDs). Most ASD-associated mutations in SCN2A are loss-of-function mutations, but studies examining how such mutations affect neuronal function and whether Scn2a mutant mice display ASD endophenotypes have been inconsistent. We generated a protein truncation variant Scn2a mouse model (Scn2aΔ1898/+) by CRISPR that eliminates the NaV1.2 channel’s distal intracellular C-terminal domain, and we analyzed the molecular and cellular consequences of this variant in a heterologous expression system, in neuronal culture, in brain slices, and in vivo. We also analyzed multiple behaviors in WT and Scn2aΔ1898/+ mice and correlated behaviors with clinical data obtained in human subjects with SCN2A variants. Expression of the NaV1.2 mutant in a heterologous expression system revealed decreased NaV1.2 channel function, and cultured pyramidal neurons isolated from Scn2aΔ1898/+ forebrain showed correspondingly reduced voltage-gated Na+ channel currents without compensation from other CNS voltage-gated Na+ channels. Na+ currents in inhibitory neurons were unaffected. Consistent with loss of voltage-gated Na+ channel currents, Scn2aΔ1898/+ pyramidal neurons displayed reduced excitability in forebrain neuronal culture and reduced excitatory synaptic input onto the pyramidal neurons in brain slices. Scn2aΔ1898/+ mice displayed several behavioral abnormalities, including abnormal social interactions that reflect behavior observed in humans with ASD and with harboring loss-of-function SCN2A variants. This model and its cellular electrophysiological characterizations provide a framework for tracing how a SCN2A loss-of-function variant leads to cellular defects that result in ASD-associated behaviors.

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