1. Chapple M, Davis P, Billington J, Myrick JA, Ruddock C, Corcoran R. Overcoming the Double Empathy Problem Within Pairs of Autistic and Non-autistic Adults Through the Contemplation of Serious Literature. Frontiers in psychology. 2021; 12: 708375.

Recent research based on the needs of the autistic community has explored the frequent social misunderstandings that arise between autistic and non-autistic people, known as the double empathy problem. Double empathy understandings require both groups to respect neurodiversity by focussing on individuality across groups. This study aimed to explore how literature, through its ability to uncover nuanced emotional response differences between readers, could facilitate double empathy understandings within pairs of autistic and non-autistic adults. A longitudinal, qualitative design was used, with 4 gender-matched pairs. Participants read Of Mice and Men for 1 week, whilst completing a structured, reflective diary. This was followed by 4 one-hour paired reading sessions, where pairs discussed the book and their reflections in depth. Participants were then invited to a final one-on-one interview to discuss their thoughts and experiences of the paired reading sessions. Thematic and literary analysis of the session and interview data revealed four themes (1) The Book as Social Oil; (2) From a World of Difference to a World of Affinity; (3) Emotional Intelligence: From Thinking About to Feeling with; and (4) From Overwhelming to Overcoming. All participants reported having achieved an individualised view of one another to explore their nuanced differences. The non-autistic group reported a more sensitive understanding of what it means to be autistic, while the autistic group overcame concerns about non-autistic people stereotyping autism, and instead reported feeling valued and accommodated by their non-autistic partners.

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2. Dillon E, Holingue C, Herman D, Landa RJ. Psychometrics of the Pragmatic Rating Scale for School-Age Children With a Range of Linguistic and Social Communication Skills. Journal of speech, language, and hearing research : JSLHR. 2021; 64(9): 3477-88.

Purpose Social communication or pragmatic skills are continuously distributed in the general population. Impairment in these skills is associated with two clinical disorders, autism spectrum disorder (ASD) and social (pragmatic) communication disorder. Such impairment can impact a child’s peer acceptance, school performance, and current and later mental health. Valid, reliable, examiner-rated observational measures of social communication from a semistructured language sample are needed to detect social communication impairment. We evaluated the psychometrics of an examiner-rated measure of social (pragmatic) communication, the Pragmatic Rating Scale-School Age (PRS-SA). Method The analytic sample consisted of 130 children, ages 7-12 years, from five mutually exclusive groups: ASD (n = 25), language concern (LC; n = 5), ASD + LC (n = 10), social communication impairment only (n = 22), and typically developing (TD; n = 68). All children received language and autism assessments. The PRS-SA was rated separately using video-recorded communication samples from the Autism Diagnostic Observation Schedule. Assessment data were employed to evaluate the psychometrics of the PRS-SA. Analysis of covariance models were used to assess whether the PRS-SA would detect differences in social communication functioning across the five groups. Results The PRS-SA demonstrated strong internal reliability, concurrent validity, and interrater reliability. PRS-SA scores were significantly higher in all groups compared to the TD group and differed significantly in most pairwise comparisons; the ASD + LC group had the highest (more atypical) scores. Conclusions The PRS-SA shows promise as a measure of social communication skills in school-age verbally fluent children with a range of social and language abilities. More research is needed with a larger sample, including a wider age range and geographical diversity, to replicate findings. Supplemental Material https://doi.org/10.23641/asha.15138240.

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3. Gabrielle PH, Faivre L, Audo I, Zanlonghi X, Dollfus H, Thiadens A, Zeitz C, Mancini GMS, Perdomo Y, Mohand-Saïd S, Lizé E, Lhussiez V, Nandrot EF, Acar N, Creuzot-Garcher C, Sahel JA, Ansar M, Thauvin-Robinet C, Duplomb L, Da Costa R. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy. Scientific reports. 2021; 11(1): 16412.

Cohen syndrome (CS) is a rare syndromic form of rod-cone dystrophy. Recent case reports have suggested that cystoid maculopathy (CM) could affect CS patients with an early onset and high prevalence. Our study aims at improving our understanding and management of CM in CS patients through a retrospective case series of ten CS patients with identified pathogenic variants in VPS13B. Longitudinal optical coherence tomography (OCT) imaging was performed and treatment with carbonic anhydrase inhibitors (CAI) was provided to reduce the volume of cystoid spaces. CM affected eight out of ten patients in our cohort. The youngest patient showed a strong progression of macular cysts from the age of 4.5 to 5 years despite oral CAI medication. Other teenage and young adult patients showed stable macular cysts with and without treatment. One patient showed a moderate decrease of cystoid spaces in the absence of treatment at 22 years of age. Through a correlative analysis we found that the volume of cystoid spaces was positively correlated to the thickness of peripheral and macular photoreceptor-related layers. This study suggests that CAI treatments may not suffice to improve CM in CS patients, and that CM may resolve spontaneously during adulthood as photoreceptor dystrophy progresses.

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4. González-Cano SI, Camacho-Abrego I, Diaz A, de la Cruz F, Morales-Medina JC, Flores G. Prenatal exposure to propionic acid induces altered locomotion and reactive astrogliosis in male rats. Journal of chemical neuroanatomy. 2021; 117: 102011.

Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders characterized by movement and social deficits with rapidly increasing incidence worldwide. Propionic acid (PPA) is a histone deacetylase inhibitor that regulates neuronal plasticity in the brain. Evaluation of the behavioral and cellular consequences of PPA exposure during a critical neurodevelopmental window is required. Therefore, in the present study we aimed to evaluate the effects of prenatal PPA exposure on locomotor behavior and astrocyte number, as well as on levels of nitric oxide (NO), synaptophysin (SYP; a marker of synaptic plasticity), and metallothionein 3 (MT-III; a marker of reactive oxygen species and zinc metabolism), in the prefrontal cortex (PFC) of male rats. All parameters were evaluated at three critical ages of development: postnatal days (PD) 21 (weaning age), PD35 (pre-pubertal age) and PD70 (post-pubertal age). Prenatal PPA exposure induced hypolocomotion and decreased rearing events at weaning age. Moreover, astrogliosis in the PFC was observed in PPA-treated rats at pre- and post-pubertal age. SYP levels were dramatically decreased in PPA-treated rats with simultaneous astrogliosis, suggesting reduced synaptic plasticity. MT-III expression was deregulated in PPA-treated rats. Finally, the expression of NO in the PFC remained unaltered in PPA-treated rats. These results mimic behavioral, neuronal and astrocytic characteristics observed in ASD patients.

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5. Heinrichs B, Liu B, Zhang J, Meents JE, Le K, Erickson A, Hautvast P, Zhu X, Li N, Liu Y, Spehr M, Habel U, Rothermel M, Namer B, Zhang X, Lampert A, Duan G. The Potential Effect of Na (v) 1.8 in Autism Spectrum Disorder: Evidence From a Congenital Case With Compound Heterozygous SCN10A Mutations. Frontiers in molecular neuroscience. 2021; 14: 709228.

Apart from the most prominent symptoms in Autism spectrum disorder (ASD), namely deficits in social interaction, communication and repetitive behavior, patients often show abnormal sensory reactivity to environmental stimuli. Especially potentially painful stimuli are reported to be experienced in a different way compared to healthy persons. In our present study, we identified an ASD patient carrying compound heterozygous mutations in the voltage-gated sodium channel (VGSC) Na (v) 1.8, which is preferentially expressed in sensory neurons. We expressed both mutations, p.I1511M and p.R512(∗), in a heterologous expression system and investigated their biophysical properties using patch-clamp recordings. The results of these experiments reveal that the p.R512(∗) mutation renders the channel non-functional, while the p.I1511M mutation showed only minor effects on the channel’s function. Behavioral experiments in a Na (v) 1.8 loss-of-function mouse model additionally revealed that Na (v) 1.8 may play a role in autism-like symptomatology. Our results present Na (v) 1.8 as a protein potentially involved in ASD pathophysiology and may therefore offer new insights into the genetic basis of this disease.

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6. Lainhart JE. Sex Differences in Cerebral Development in Autism. Biological psychiatry. 2021; 90(5): 278-80.

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7. Lee H, Hsu JW, Tsai SJ, Huang KL, Bai YM, Su TP, Chen TJ, Chen MH. Risk of attention deficit hyperactivity and autism spectrum disorders among the children of parents with autoimmune diseases: a nationwide birth cohort study. European child & adolescent psychiatry. 2021.

Studies have suggested that maternal autoimmune diseases are associated with an increased risk of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). However, research on the association of paternal autoimmune diseases with ADHD and ASD risk has remained inconclusive. Using the Taiwan National Health Insurance Research Database, we selected 708,517 family triads (father-mother-child) between 2001 and 2008 and followed them until the end of 2011. Parental autoimmune diseases as well as ADHD and ASD in children were identified during the study period. Increased ADHD risk in children in terms of hazard ratios (HRs) and 95% confidence intervals (CIs) was associated with prenatal exposure to paternal autoimmune diseases, including Sjögren’s syndrome (HR: 8.41, 95% CI: 2.72-26.05), psoriasis (HR: 1.95, 95% CI: 1.05-3.63), and ankylosing spondylitis (HR: 2.02, 95% CI: 1.29-2.15), as well as maternal autoimmune diseases, such as systemic lupus erythematosus (HR: 1.53, 95% CI: 1.09-2.15), type 1 diabetes mellitus (HR: 1.55, 95% CI: 1.02-2.36), inflammatory bowel disease (HR: 2.37, 95% CI: 1.59-3.52), psoriasis (HR: 1.70, 95% CI: 1.00-2.87), and ankylosing spondylitis (HR: 2.07, 95% CI: 1.11-3.86). However, ASD was only associated with paternal inflammatory bowel disease (HR: 3.08, 95% CI: 1.15-8.28) and ankylosing spondylitis (HR: 2.65, 95% CI: 1.10-6.39). Both paternal and maternal autoimmune diseases were associated with increased likelihood of ADHD in children. However, only paternal autoimmune diseases were related to offspring ASD risk. The precise pathomechanism underlying the correlation between parental autoimmunity and child neurodevelopment requires further investigation.

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8. Mancini P, Mariani L, Nicastri M, Cavicchiolo S, Giallini I, Scimemi P, Zanetti D, Montino S, Lovo E, Di Berardino F, Trevisi P, Santarelli R. Cochlear implantation in children with Autism Spectrum Disorder (ASD): Outcomes and implant fitting characteristics. International journal of pediatric otorhinolaryngology. 2021; 149: 110876.

BACKGROUND: Little is known regarding fitting parameters and receptive and expressive language development in cochlear-implanted children (CCI) with profound sensorineural hearing loss (SHL) who are diagnosed with Autism Spectrum Disorder (ASD). The aim of the study was to evaluate a group of ASD CCI users in order to describe their ASD clinical features and CCI outcomes; report on the average electrical charge requirements; and evaluate the possible correlations between electrical and psychophysical outcomes with ASD characteristics. MATERIALS AND METHODS: A multicentre observational study of 22 ASD children implanted in four cochlear implant (CI) centers. Data concerning profound SHL diagnosis, ASD diagnosis, CI timing and CI compliance were collected. Sound Field (SF) was assessed through repeated behavioural measurements. Categories of Auditory Perception (CAP) and Categories of Language (CL) were used to evaluate speech perception and language skills at short (≤2 yrs), medium (5 yrs) and long term (>10 yrs) follow-up. Fitting parameters such as comfortable thresholds, pulse-width (pw, μsec) and clinical units converted into units of charge/phase were collected. The diagnosis of ASD was acquired by the referral neuropsychiatric department and severity was assessed through the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) and the Childhood Autism Rating Scale (CARS). RESULTS: At the final follow-up session the median SF threshold for CI outcomes was 30 dB HL (min 15 – max 60). CAP score was extremely variable: 45.5% showed no improvement over time and only 22% of children reached CAP scores of 5-7. CL 45.5% showed no improvement over time and score was 1-2 in the majority of ASD children (72.7%), while only 18.2% reached the highest level of language skills. There were no statistically significant differences at each follow-up between subjects with or without comorbidities. CAP and CL were inversely correlated with DSM-V A and B domains, corresponding to lower speech and language scores in children with more severe ASD symptoms, and maintained their correlation at mid and long follow-ups whilst controlling for age at CI. Electrical charge requirements did not correlate with SF or age at implant but did inversely correlate with ASD severity. With regards to CI compliance: only 13.6% children (3) with severe DSM-V A/B levels and CARS score were partial/intermittent users. CONCLUSION: The present study is a targeted contribution to the current literature to support clinical procedures for CI fitting and audiological follow-up in children with ASD. The findings indicate that the outcomes of CI use and the fitting procedures are both influenced by the severity of the ASD symptoms rather than the demographic variables or associated disorders.

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9. Neilson S. Whose bedside manner? Autism spectrum disorder in physicians. Canadian family physician Medecin de famille canadien. 2021; 67(8): 569-70.

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10. Neilson S. Le comportement envers qui? Les troubles du spectre autistique chez les médecins. Canadian family physician Medecin de famille canadien. 2021; 67(8): e206-e8.

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11. Paton MCB, Wall DA, Elwood N, Chiang KY, Cowie G, Novak I, Finch-Edmondson M. Safety of allogeneic umbilical cord blood infusions for the treatment of neurological conditions: a systematic review of clinical studies. Cytotherapy. 2022; 24(1): 2-9.

BACKGROUND AIMS: Umbilical cord blood (UCB) infusion is being investigated as a treatment for a range of neurological conditions, primarily because of its potent immunomodulatory effects mediated via paracrine signaling. Although initial research mainly utilized autologous UCB, allogeneic samples from a sibling or unrelated donor have now become more common. With the use of allogeneic UCB, questions have arisen surrounding the necessity for human leukocyte antigen (HLA) matching, preparative regimens and immunosuppressant drugs. To investigate the safety of allogeneic UCB for the treatment of neurological conditions and the impact of HLA mismatching and immunosuppresion, the authors conducted a systematic review of the safety of allogeneic UCB infusion for neurological conditions. METHODS: A systematic review of published and gray literature was conducted to investigate the safety of allogeneic UCB infusions for neurological conditions. RESULTS: Authors identified 10 studies using allogeneic UCB to treat autism spectrum disorder, cerebral palsy, stroke, traumatic brain injury and various other conditions. A total of 361 participants (with at least 442 UCB infusions) received a range of HLA-matched/untyped allogeneic units and cell doses, with the majority not administered post-infusion immunosuppression. There were no reported serious adverse events definitely or probably related to the allogeneic UCB infusion, nor later potential complications such as graft-versus-host disease or teratoma formation. CONCLUSIONS: Although variability between studies is high, the available data do not identify safety concerns with allogeneic UCB infusion for the treatment of neurological conditions, even with variable HLA matching or no immunosuppression.

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12. Reetzke R, Iosif AM, Hatch B, de la Paz L, Chuang A, Ozonoff S, Miller M. Patterns of objectively measured motor activity among infants developing ASD and concerns for ADHD. Journal of child psychology and psychiatry, and allied disciplines. 2021.

BACKGROUND: Heightened motor activity is a hallmark of attention-deficit/hyperactivity disorder (ADHD), yet high activity levels are also often reported in young children with autism spectrum disorder (ASD). It is currently unclear whether increased motor activity represents a distinct versus shared early predictor of ASD and ADHD; no prior studies have directly examined this prospectively. We investigated differences in longitudinal patterns of objectively measured motor activity during early development. METHODS: Participants included 113 infants at high and low risk for ASD or ADHD. Continuous motion-based activity was recorded using tri-axial accelerometers at 12, 18, 24, and 36 months of age. At 36 months, participants were categorized into one of three outcome groups: ASD (n = 19), ADHD Concerns (n = 17), and Typically Developing (TD; n = 77). Group differences in trajectories of motor activity were examined in structured and semistructured contexts. Associations with behaviors relevant to ASD, ADHD, and general development were also examined. RESULTS: In both structured and semistructured contexts, both the ASD and ADHD Concerns groups exhibited heightened activity relative to the TD group by 18 months; the ASD group exhibited higher activity than the ADHD Concerns group at 24-36 months in the structured context only. Attention/behavior regulation, nonverbal, and verbal development-but not social engagement-were differentially associated with objectively measured activity by outcome group across contexts. CONCLUSIONS: Overactivity may be a shared, rather than distinct, precursor of atypical development in infants/toddlers developing ASD and concerns for ADHD, emerging as early as 18 months. Group differences in overactivity may be context-specific and associated with different underlying mechanisms.

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13. Shaji G, Chong VH. Challenges in managing children with Autism Spectrum Disorder and COVID-19: A case report. Malaysian family physician : the official journal of the Academy of Family Physicians of Malaysia. 2021; 16(2): 67-9.

Children of all ages can be affected by coronavirus disease 2019 (COVID-19), although they appear to be less affected than adults in both incidence and severity. Difficulties arise in children with co-morbid conditions such as Autism Spectrum Disorder (ASD) with regard to isolation or quarantine, investigation, and management. It can be a challenge to manage such children, be it in a national COVID center or hospital or a tertiary center. We report our experience and the challenges we faced managing two siblings with ASD and COVID-19.

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14. Veatch OJ, Malow BA, Lee HS, Knight A, Barrish JO, Neul JL, Lane JB, Skinner SA, Kaufmann WE, Miller JL, Driscoll DJ, Bird LM, Butler MG, Dykens EM, Gold JA, Kimonis V, Bacino CA, Tan WH, Kothare SV, Peters SU, Percy AK, Glaze DG. Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes. Pediatric neurology. 2021; 123: 30-7.

BACKGROUND: Adequate sleep is important for proper neurodevelopment and positive health outcomes. Sleep disturbances are more prevalent in children with genetically determined neurodevelopmental syndromes compared with typically developing counterparts. We characterize sleep behavior in Rett (RTT), Angelman (AS), and Prader-Willi (PWS) syndromes to identify effective approaches for treating sleep problems in these populations. We compared sleep-related symptoms across individuals with these different syndromes with each other, and with typically developing controls. METHODS: Children were recruited from the Rare Diseases Clinical Research Network consortium registries; unaffected siblings were enrolled as related controls. For each participant, a parent completed multiple sleep questionnaires including Pediatric Sleep Questionnaire (Sleep-Disordered Breathing), Children’s Sleep Habits Questionnaire (CSHQ), and Pediatric Daytime Sleepiness Scale. RESULTS: Sleep data were analyzed from 714 participants, aged two to 18 years. Young children with AS had more reported sleep problems than children with RTT or PWS. Older children with RTT had more reported daytime sleepiness than those with AS or PWS. Finally, all individuals with RTT had more evidence of sleep-disordered breathing when compared with individuals with PWS. Notably, typically developing siblings were also reported to have sleep problems, except for sleep-related breathing disturbances, which were associated with each of the genetic syndromes. CONCLUSIONS: Individuals with RTT, AS, and PWS frequently experience sleep problems, including sleep-disordered breathing. Screening for sleep problems in individuals with these and other neurogenetic disorders should be included in clinical assessment and managements. These data may also be useful in developing treatment strategies and in clinical trials.

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15. Yaldız AH, Solak N, Ikizer G. Negative emotions in siblings of individuals with developmental disabilities: The roles of early maladaptive schemas and system justification. Research in developmental disabilities. 2021; 117: 104046.

BACKGROUND: Developmental disabilities (DD) in close family members have profound effects on psychological adjustment of siblings of individuals with DD. One factor that influences the psychological adjustment of siblings is emotions. However, little is known about emotions among siblings of individuals with DD. AIMS: This study sought to examine negative emotions of adolescent siblings of individuals with DD and focus on the roles of individual- and system-related factors, namely early maladaptive schemas (EMS) and system justification. METHODS AND PROCEDURES: A cross-sectional study including adolescent 72 siblings of individuals with DD and 109 adolescent siblings of individuals without DD was conducted. OUTCOMES AND RESULTS: The siblings of individuals with DD had higher scores on the Other-Directedness schema domain and system justification than the siblings of individuals without DD. However, the frequency of negative emotions did not differ between groups. Lower scores on EMS and higher scores on system justification were associated with less frequent negative emotions. CONCLUSIONS AND IMPLICATIONS: Negative emotions seem to be common in adolescents regardless of having a sibling with DD or not. Nevertheless, EMS and system justification tendencies in siblings of individuals with DD may act as vulnerability factors for negative emotions.

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16. Zampella CJ, Wang LAL, Haley M, Hutchinson AG, de Marchena A. Motor Skill Differences in Autism Spectrum Disorder: a Clinically Focused Review. Current psychiatry reports. 2021; 23(10): 64.

PURPOSE OF REVIEW: This review synthesizes recent, clinically relevant findings on the scope, significance, and centrality of motor skill differences in autism spectrum disorder (ASD). RECENT FINDINGS: Motor challenges in ASD are pervasive, clinically meaningful, and highly underrecognized, with up to 87% of the autistic population affected but only a small percentage receiving motor-focused clinical care. Across development, motor differences are associated with both core autism symptoms and broader functioning, though the precise nature of those associations and the specificity of motor profiles to ASD remain unestablished. Findings suggest that motor difficulties in ASD are quantifiable and treatable, and that detection and intervention efforts targeting motor function may also positively influence social communication. Recent evidence supports a need for explicit recognition of motor impairment within the diagnostic framework of ASD as a clinical specifier. Motor differences in ASD warrant greater clinical attention and routine incorporation into screening, evaluation, and treatment planning.

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