1. Bakken TL. Behavioural equivalents of schizophrenia in people with intellectual disability and autism spectrum disorder. A selective review. International journal of developmental disabilities. 2021; 67(5): 310-7.

Assessment of schizophrenia (SCZ) in people with autism spectrum disorder (ASD) is complicated due to confounding symptoms between ASD and SCZ. These confounding factors are aggravated when the patient has sparse verbal skills. A selective review was conducted to identify behavioural equivalents when assessing SCZ in individuals with ASD with sparse verbal skills, from 16 years of age. Only clinical papers were reviewed. Eight relevant articles were analysed for the use of behavioural equivalents in clinical settings. The results showed that especially disorganized speech and behaviour and negative symptoms can be observed in patients with SCZ and ASD who speak sparsely. It is not possible to observe delusions, but they may be reported by the patients when treated adequately for some time, usually months. Hallucinations cannot be observed directly, but ‘hallucinatory behaviour’ may be interpreted as hallucinations when observed concurrently with other SCZ symptoms. Additionally, age of onset and marked impaired global functioning compared to habitual functioning may constitute a diagnosis of SCZ in ASD. ASD is considered a lifelong condition and may be identified within the first 3-4 years, while SCZ onset is usually in adolescence or early adulthood.

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2. Banerjee I, Lambert JM, Copeland BA, Paranczak JL, Bailey KM, Standish CM. Extending functional communication training to multiple language contexts in bilingual learners with challenging behavior. Journal of applied behavior analysis. 2022; 55(1): 80-100.

Little research has highlighted how evidence-based practices (e.g., functional communication training [FCT]) might be adapted for bilingual learners with disabilities. In the current study, we served 2 children with autism spectrum disorder (ASD) and challenging behavior whose parents primarily spoke Spanish at home, and whose teachers primarily spoke English at school. Following traditional FCT (i.e., 1 language only), we systematically replicated the findings of Neely, Graber et al. (2020) by demonstrating that mands in the untrained language (i.e., English) did not emerge when trained mands (i.e., Spanish) contacted extinction in alternative-language contexts. Simultaneously, challenging behavior consistently resurged. After children received explicit training with both languages and were taught to change the language of request when initial attempts were unsuccessful (i.e., « repair the message » training), these same children successfully obtained high rates of reinforcement in both language contexts, and challenging behavior rarely occurred.

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3. Bergmann T, Birkner J, Sappok T, Schmidt M. The Autism-Competency-Group (AutCom). A promising approach to promote social skills in adults with autism spectrum disorder and intellectual disability. International journal of developmental disabilities. 2021; 67(5): 349-65.

Autism spectrum disorders (ASD) are often associated with intellectual disability (ID). ASD-specific group concepts usually focus on people on a high functioning level. The Autism-Competence-Group (AutCom) combines a psycho-educative approach with music and dance/movement interventions in adults with ASD and ID. AutCom includes 16 structured 90-minute sessions to foster social and emotional competencies. This study investigates the acceptability and effectiveness of AutCom. Practicability and acceptability were measured based on participation frequency and patient satisfaction (CSQ-8). Efficacy was assessed in a pre-post design (N = 12) based on self- and third-party assessment with a control group matched by gender and level of ID. Primary outcome variables were social and emotional competence, and secondary outcomes were challenging behavior and quality of life. A participation rate of 86% indicated practicability; high CSQ-8 scores (M = 30 of max. 32) indicated acceptability. Significant improvement was found in social competence compared to the control group and emotional competence in the pre-post self-assessment on the AutCom questionnaire. No significant improvement was found in challenging behavior and quality of life. AutCom is shown to be a promising and highly accepted group concept in fostering social and emotional skills in adults with ASD and ID.

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4. Bush L, Scott MN. Neuropsychological and ASD phenotypes in rare genetic syndromes: A critical review of the literature. The Clinical neuropsychologist. 2021: 1-35.

OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by core deficits in social communication and restricted and repetitive behaviors and interests. Recent advances in clinical genetics have improved our understanding of genetic syndromes associated with ASD, which has helped clarify distinct etiologies of ASD and document syndrome-specific profiles of neurocognitive strengths and weaknesses. Pediatric neuropsychologists have the potential to be impactful members of the care team for children with genetic syndromes and their families. METHOD: We provide a critical review of the current literature related to the neuropsychological profiles of children with four genetic syndromes associated with ASD, including Tuberous Sclerosis Complex (TSC), fragile X syndrome (FXS), 22q11.2 deletion syndrome, and Angelman syndrome. Recommendations for assessment, intervention, and future directions are provided. RESULTS: There is vast heterogeneity in terms of the cognitive, language, and developmental abilities of these populations. The within- and across-syndrome variability characteristic of genetic syndromes should be carefully considered during clinical evaluations, including possible measurement limitations, presence of intellectual disability, and important qualitative differences in the ASD-phenotypes across groups. CONCLUSIONS: Individuals with genetic disorders pose challenging diagnostic and assessment questions. Pediatric neuropsychologists with expertise in neurodevelopmental processes are well suited to address these questions and identify profiles of neurocognitive strengths and weaknesses, tailor individualized recommendations, and provide diagnostic clarification.

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5. Chen F, Peng G. Categorical Perception of Pitch Contours and Voice Onset Time in Mandarin-Speaking Adolescents With Autism Spectrum Disorders. Journal of speech, language, and hearing research : JSLHR. 2021; 64(11): 4468-84.

Purpose Previous studies have shown enhanced pitch and impaired time perception in individuals with autism spectrum disorders (ASD). However, it remains unclear whether such deviated patterns of auditory processing depending on acoustic dimensions would transfer to the higher level linguistic pitch and time processing. In this study, we compared the categorical perception (CP) of lexical tones and voice onset time (VOT) in Mandarin Chinese, which utilize pitch and time changes, respectively, to convey phonemic contrasts. Method The data were collected from 22 Mandarin-speaking adolescents with ASD and 20 age-matched neurotypical controls. In addition to the identification and discrimination tasks to test CP performance, all the participants were evaluated with their language ability and phonological working memory. Linear mixed-effects models were constructed to evaluate the identification and discrimination scores across different groups and conditions. Results The basic CP pattern of cross-boundary benefit when perceiving both native lexical tones and VOT was largely preserved in high-functioning adolescents with ASD. The degree of CP of lexical tones in ASD was similar to that in typical controls, whereas the degree of CP of VOT in ASD was greatly reduced. Furthermore, the degree of CP of lexical tones correlated with language ability and digit span in ASD participants. Conclusions These findings suggest that the unbalanced acoustic processing capacities for pitch and time can be generalized to the higher level linguistic processing in ASD. Furthermore, the higher degree of CP of lexical tones correlated with better language ability in Mandarin-speaking individuals with ASD.

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6. Chen N, Watanabe K, Wada M. People With High Autistic Traits Show Fewer Consensual Crossmodal Correspondences Between Visual Features and Tastes. Frontiers in psychology. 2021; 12: 714277.

Crossmodal correspondences between visual features (e.g., color/shape) and tastes have been extensively documented in recent years. Visual colors and shapes have been shown to consensually match to specific tastes. Meanwhile, individuals with autism spectrum disorder are reported to have atypical sensory processing and deficits in multisensory integration. However, the influence of autistic traits on the formation of such correspondences is relatively unknown. Here, we examined whether autistic traits could influence visual-taste associations using an online questionnaire survey among Japanese participants. The results showed that the participants exhibited strong color-taste, shape-taste, and shape-color associations, and the proportions of choosing the consensual color-taste/shape-color associations were significantly associated with autistic traits. The participants with higher autistic quotient scores chose fewer of the consensual color-taste/shape-color associations while there was no difference in choosing shape-taste associations. We interpreted the results as statistical learning with a reduced prior knowledge effect in participants with higher autistic quotient scores.

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7. DeGuzman PB, Lyons G, Huang G, Keim-Malpass J, Mazurek MO. Statewide Analysis Reveals Period of Well-Child Visit Attendance for Earlier Diagnosis of Autism Spectrum Disorder. The Journal of pediatrics. 2022; 241: 181-7.e1.

OBJECTIVE: To explore the relationship between well-child visit (WCV) attendance during early childhood and age at autism spectrum disorder (ASD) diagnosis using data drawn from a statewide all-payer claims database. STUDY DESIGN: We used a correlational study design with longitudinal data drawn from the Virginia All-Payer Claims Database. All children born in 2011 with a diagnosis of ASD were included (n = 253). Survival analysis determined the impact of WCV attendance on ASD diagnosis at each American Academy of Pediatrics-recommended early childhood visit, and the 5-year visit. RESULTS: Survival analysis revealed a significant impact of WCV attendance at the 24-month, 3-, and 4-year visits on earlier ASD diagnosis. Children who attended the 24-month visit were diagnosed nearly 10 months earlier than those who did not. Overall, children with ASD attended fewer than 50% of visits during early childhood. CONCLUSIONS: Promoting consistent WCV attendance during early childhood is an actionable strategy for improving early identification of ASD. Further exploration is needed to determine barriers to visit attendance and the impact of patterns of early childhood WCV attendance on age of ASD diagnosis. Development and implementation of interventions to promote adherence to the American Academy of Pediatrics-recommended visits is needed.

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8. Fogelson N, Diaz-Brage P. Altered directed connectivity during processing of predictive stimuli in psychiatric patient populations. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 2021; 132(11): 2739-50.

OBJECTIVES: The study investigated the role of top-down versus bottom-up connectivity, during the processing of predictive information, in three different psychiatric disorders. METHODS: Electroencephalography (EEG) was recorded during the performance of a task, which evaluates the ability to use predictive information in order to facilitate predictable versus random target detection. We evaluated EEG event-related directed connectivity, in patients with schizophrenia (SZ), major depressive disorder (MDD), and autism spectrum disorder (ASD), compared with healthy age-matched controls. Directed connectivity was evaluated using phase transfer entropy. RESULTS: We showed that top-down frontal-parietal connectivity was weaker in SZ (theta and beta bands) and ASD (alpha band) compared to control subjects, during the processing of stimuli consisting of the predictive sequence. In SZ patients, top-down connectivity was also attenuated, during the processing of predictive targets in the beta frequency band. In contrast, compared with controls, MDD patients displayed an increased top-down flow of information, during the processing of predicted targets (alpha band). CONCLUSIONS: The findings suggest that top-down frontal-parietal connectivity is altered differentially across three major psychiatric disorders, specifically during the processing of predictive stimuli. SIGNIFICANCE: Altered top-down connectivity may contribute to the specific prediction deficits observed in each of the patient populations.

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9. Fossum IN, Andersen PN, Øie MG, Skogli EW. Development of executive functioning from childhood to young adulthood in autism spectrum disorder and attention-deficit/hyperactivity disorder: A 10-year longitudinal study. Neuropsychology. 2021; 35(8): 809-21.

OBJECTIVE: This 10-year longitudinal study investigated the developmental trajectories of executive functioning (EF) in individuals with autism spectrum disorder (ASD) or attention-deficit/hyperactivity disorder (ADHD), compared to typically developing (TD) individuals from childhood into young adulthood. METHOD: There were 173 participants at baseline (T1; ASD = 38 (eight with co-occurring ADHD), ADHD = 85, TD = 50; M(age) = 11.7 years, SD = 2.1), 168 at 2-year follow-up (T2) and 127 at 10-year follow-up (T3). Participants were assessed with three neuropsychological tests aimed at capturing central components of EF: working memory/Letter-Number Sequencing Test (LNS), inhibition/Color-Word Interference Test, Condition 3 (CWIT3), and flexibility/Trail Making Test, Condition 4 (TMT4). Test results were analyzed using linear mixed models (LMM). RESULTS: At baseline, the TD participants outperformed the ASD and ADHD participants on all three tests. From T1 to T2, the ASD participants had less improvement than the ADHD and TD participants on the LNS test (p = .007 and .025, respectively), while having more improvement on the CWIT3 relative to the TD participants (p = .027). From T2 to T3, the ADHD participants had less improvement on the LNS test than the ASD and TD participants (p = .004 and .021, respectively). CONCLUSIONS: The ASD and ADHD groups mainly displayed similar maturation on the neuropsychological measures, and displayed continuous impairment relative to the TD group. The need for support and facilitation of EF in school, workplace, and social arenas might continue into young adulthood among certain individuals with ASD and ADHD. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

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10. Jones V, Ryan L, Rooker G, Debinski B, Parnham T, Mahoney P, Shields W. An Exploration of Emergency Department Visits for Home Unintentional Injuries Among Children With Autism Spectrum Disorder for Evidence to Modify Injury Prevention Guidelines. Pediatric emergency care. 2021; 37(10): e589-e93.

OBJECTIVES: Current childhood injury prevention guidance is anchored by a child’s age. For example, children are considered at high risk for falls at ages 4 years and less, and guidance for prevention focuses on these ages. However, these guidelines may not be adequate for children with autism spectrum disorders (ASD). METHODS: This retrospective chart review examined injury characteristics for children with ASD receiving treatment in a pediatric emergency department between 2014 and 2016. Bivariate statistics determined injury demographic correlates. Chart narratives were also coded using traditional content analysis to determine the mechanism that caused the home injury. RESULTS: The sample (27 cases) was mostly male (89%), Black (48%), with a mean age of 7.8 (SD, 4.9) years. The most common mechanism was a fall (44%), followed by self-injurious behavior (33%), and then burns (22%). All cases identified at least 1 mechanism contributing to the injury, in 2 cases, 2 items were mentioned. Of the 29 items identified, most involved a house feature that was not stairs (24%); some included stairs, furniture, or a combination of foreign object and grill (21%); and few identified food/beverage/liquid (11%). CONCLUSIONS: Analyses suggest that unintentional home injury prevention for children with ASD may require prevention guidance extended through older ages.

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11. Key AP, D’Ambrose Slaboch K. Speech Processing in Autism Spectrum Disorder: An Integrative Review of Auditory Neurophysiology Findings. Journal of speech, language, and hearing research : JSLHR. 2021; 64(11): 4192-212.

Purpose Investigations into the nature of communication disorders in autistic individuals increasingly evaluate neural responses to speech stimuli. This integrative review aimed to consolidate the available data related to speech and language processing across levels of stimulus complexity (from single speech sounds to sentences) and to relate it to the current theories of autism. Method An electronic database search identified peer-reviewed articles using event-related potentials or magnetoencephalography to investigate auditory processing from single speech sounds to sentences in autistic children and adults varying in language and cognitive abilities. Results Atypical neural responses in autistic persons became more prominent with increasing stimulus and task complexity. Compared with their typically developing peers, autistic individuals demonstrated mostly intact sensory responses to single speech sounds, diminished spontaneous attentional orienting to spoken stimuli, specific difficulties with categorical speech sound discrimination, and reduced processing of semantic content. Atypical neural responses were more often observed in younger autistic participants and in those with concomitant language disorders. Conclusions The observed differences in neural responses to speech stimuli suggest that communication difficulties in autistic individuals are more consistent with the reduced social interest than the auditory dysfunction explanation. Current limitations and future directions for research are also discussed.

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12. Lejarraga H. Sex differences in the canalization of child growth and development: An example of genetic regulation. Archivos argentinos de pediatria. 2021; 119(5): e473-e9.

In case of a disease or nutritional deficit, the growth curve may show deviations from the percentile it was depicting, and once damage is removed, a strong regulatory force tends to restore its path. Such phenomenon is known as catch-up growth and is an example of canalization of growth. Girls are more favored than boys because, when faced with the same damage, their growth (and also their psychomotor development) shows less deviation than that of boys. Such difference is also shown in a higher prevalence among boys of growth retardation in general and some developmental disorders, including autism spectrum disorder and cerebral palsy. Infant mortality is lower in girls at all ages and life expectancy is several years longer in women from all countries. The cause of such differences in favor of girls has a strong genetic component and is enriching for the interpretation of clinical and epidemiological studies.

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13. Micheletti MB, Cafiero P, Nápoli S, Lejarraga C, Pedernera Bradichansky P, Vitale MP, Urinovsky MG, Escalante A, Rodríguez E. Sleep problems in a sample of children with developmental disorders, before and during the COVID-19 pandemic. Archivos argentinos de pediatria. 2021; 119(5): 296-303.

INTRODUCTION: Sleep problems (SPs) are common, especially among children with developmental disorders (DDs), and affect their functioning and quality of family life. Pediatricians play a major role in their management. OBJECTIVE: To define the frequency and types of SPs in a sample of children with DDs, determine the proportion of pediatricians who addressed such difficulties, assess the effects of sleep hygiene (SH), and describe the impact of the COVID-19 pandemic on sleep. POPULATION AND METHODS: This was a quasiexperiment. SPs were diagnosed based on parents’ concerns and/or clinical criteria. SH strategies were provided and their effect was assessed as per parents’ reports and the Children’s Sleep Habits Questionnaire in Spanish (CSHQ-S) before and after the strategies. During the COVID-19 pandemic, the SP outcome measure and SH-related outcome measures were measured again. RESULTS: A total of 161 children were included. The frequency of SPs was 55 %; 80 % improved with SH. Eighty-three percent of children had a primary pediatrician; of these, 45 % had consulted about sleep. During the COVID-19 pandemic, SPs increased and SH outcome measures changed. CONCLUSION: Approximately half of children with DDs have SPs; and the problem was only addressed by 45 % of pediatricians. SH was beneficial for most children, so pediatricians’ role seems critical. During the COVID-19 pandemic, SPs increased, probably as a result of its environmental impact on children with DDs.

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14. Niescier RF, Lin YC. The Potential Role of AMPA Receptor Trafficking in Autism and Other Neurodevelopmental Conditions. Neuroscience. 2021; 479: 180-91.

Autism Spectrum Disorder (ASD) is a multifaceted condition associated with difficulties in social interaction and communication. It also shares several comorbidities with other neurodevelopmental conditions. Intensive research examining the molecular basis and characteristics of ASD has revealed an association with a large number and variety of low-penetrance genes. Many of the variants associated with ASD are in genes underlying pathways involved in long-term potentiation (LTP) or depression (LTD). These mechanisms then control the tuning of neuronal connections in response to experience by modifying and trafficking ionotropic glutamate receptors at the post-synaptic areas. Despite the high genetic heterogeneity in ASD, surface trafficking of the α-amino-3-hydroxy-5-Methyl-4-isoxazolepropionate (AMPA) receptor is a vulnerable pathway in ASD. In this review, we discuss autism-related alterations in the trafficking of AMPA receptors, whose surface density and composition at the post-synapse determine the strength of the excitatory connection between neurons. We highlight genes associated with neurodevelopmental conditions that share the autism comorbidity, including Fragile X syndrome, Rett Syndrome, and Tuberous Sclerosis, as well as the autism-risk genes NLGNs, IQSEC2, DOCK4, and STXBP5, all of which are involved in regulating AMPAR trafficking to the post-synaptic surface.

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15. O’Neill L, Sim I, O’Hare D, Whitaker J, Mukherjee RK, Razeghi O, Niederer S, Wright M, Chiribiri A, Frigiola A, O’Neill MD, Williams SE. CArdiac MagnEtic resonance assessment of bi-Atrial fibrosis in secundum atrial septal defects patients: CAMERA-ASD study. European heart journal Cardiovascular Imaging. 2021.

AIMS: Atrial septal defects (ASD) are associated with atrial arrhythmias, but the arrhythmia substrate in these patients is poorly defined. We hypothesized that bi-atrial fibrosis is present and that right atrial fibrosis is associated with atrial arrhythmias in ASD patients. We aimed to evaluate the extent of bi-atrial fibrosis in ASD patients and to investigate the relationships between bi-atrial fibrosis, atrial arrhythmias, shunt fraction, and age. METHODS AND RESULTS: Patients with uncorrected secundum ASDs (n = 36; 50.4 ± 13.6 years) underwent cardiac magnetic resonance imaging with atrial late gadolinium enhancement. Comparison was made to non-congenital heart disease patients (n = 36; 60.3 ± 10.5 years) with paroxysmal atrial fibrillation (AF). Cardiac magnetic resonance parameters associated with atrial arrhythmias were identified and the relationship between bi-atrial structure, age, and shunt fraction studied. Bi-atrial fibrosis burden was greater in ASD patients than paroxysmal AF patients (20.7 ± 14% vs. 10.1 ± 8.6% and 14.8 ± 8.5% vs. 8.6 ± 6.1% for right and left atria respectively, P = 0.001 for both). In ASD patients, right atrial fibrosis burden was greater in those with than without atrial arrhythmias (33.4 ± 18.7% vs. 16.8 ± 10.3%, P = 0.034). On receiver operating characteristic analysis, a right atrial fibrosis burden of 32% had a 92% specificity and 71% sensitivity for predicting the presence of atrial arrhythmias. Neither age nor shunt fraction was associated with bi-atrial fibrosis burden. CONCLUSION: Bi-atrial fibrosis burden is greater in ASD patients than non-congenital heart disease patients with paroxysmal AF. Right atrial fibrosis is associated with the presence of atrial arrhythmias in ASD patients. These findings highlight the importance of right atrial fibrosis to atrial arrhythmogenesis in ASD patients.

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16. Shah S, Richter JD. Do Fragile X Syndrome and Other Intellectual Disorders Converge at Aberrant Pre-mRNA Splicing?. Frontiers in psychiatry. 2021; 12: 715346.

Fragile X Syndrome is a neuro-developmental disorder caused by the silencing of the FMR1 gene, resulting in the loss of its protein product, FMRP. FMRP binds mRNA and represses general translation in the brain. Transcriptome analysis of the Fmr1-deficient mouse hippocampus reveals widespread dysregulation of alternative splicing of pre-mRNAs. Many of these aberrant splicing changes coincide with those found in post-mortem brain tissue from individuals with autism spectrum disorders (ASDs) as well as in mouse models of intellectual disability such as PTEN hamartoma syndrome (PHTS) and Rett Syndrome (RTT). These splicing changes could result from chromatin modifications (e.g., in FXS, RTT) and/or splicing factor alterations (e.g., PTEN, autism). Based on the identities of the RNAs that are mis-spliced in these disorders, it may be that they are at least partly responsible for some shared pathophysiological conditions. The convergence of splicing aberrations among these autism spectrum disorders might be crucial to understanding their underlying cognitive impairments.

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17. Sonigo C, Mayeur A, Sadoun M, Pinto M, Benguigui J, Frydman N, Monnot S, Benachi A, Steffann J, Grynberg M. What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?. Human reproduction (Oxford, England). 2021; 36(11): 3003-13.

STUDY QUESTION: What are the chances of obtaining a healthy transferable cleavage-stage embryo according to the number of mature oocytes in fragile X mental retardation 1 (FMR1)-mutated or premutated females undergoing preimplantation genetic testing (PGT)? SUMMARY ANSWER: In our population, a cycle with seven or more mature oocytes has an 83% chance of obtaining one or more healthy embryos. WHAT IS KNOWN ALREADY: PGT may be an option to achieve a pregnancy with a healthy baby for FMR1 mutation carriers. In addition, FMR1 premutation is associated with a higher risk of diminished ovarian reserve and premature ovarian failure. The number of metaphase II (MII) oocytes needed to allow the transfer of a healthy embryo following PGT has never been investigated. STUDY DESIGN, SIZE, DURATION: The study is a monocentric retrospective observational study carried out from January 2006 to January 2020 that is associated with a case-control study and that analyzes 38 FMR1 mutation female carriers who are candidates for PGT; 16 carried the FMR1 premutation and 22 had the full FMR1 mutation. PARTICIPANTS/MATERIALS, SETTING, METHODS: A total of 95 controlled ovarian stimulation (COS) cycles for PGT for fragile X syndrome were analyzed, 49 in premutated patients and 46 in fully mutated women. Only patients aged ≤38 years with anti-Müllerian hormone (AMH) >1 ng/ml and antral follicle count (AFC) >10 follicles were eligible for the PGT procedure. Each COS cycle of the FMR1-PGT group was matched with the COS cycles of partners of males carrying any type of translocation (ratio 1:3). Conditional logistic regression was performed to compare the COS outcomes. We then estimated the number of mature oocytes needed to obtain at least one healthy embryo after PGT using receiver operating characteristic curve analysis. MAIN RESULTS AND THE ROLE OF CHANCE: Overall, in the FMR1-PGT group, the median number of retrieved and mature oocytes per cycle was 11 (interquartile range 7-15) and 9 (6-12), respectively. The COS outcomes of FMR1 premutation or full mutation female carriers were not altered compared with the matched COS cycles in partners of males carrying a balanced translocation in their karyotype. Among the 6 (4-10) Day 3 embryos obtained in the FMR1-PGT group, a median number of 3 (1-6) embryos were morphologically eligible for biopsy, leading to 1 (1-3) healthy embryo. A cutoff value of seven MII oocytes yielded a sensitivity of 82% and a specificity of 61% of having at least one healthy embryo, whereas a cutoff value of 10 MII oocytes led to a specificity of 85% and improved positive predictive value. LIMITATIONS, REASONS FOR CAUTION: This study is retrospective, analyzing a limited number of cycles. Moreover, the patients who were included in a fresh PGT cycle were selected on ovarian reserve parameters and show high values in ovarian reserve tests. This information could influence our conclusion. WIDER IMPLICATIONS OF THE FINDINGS: The results relate only to the target population of this study, with a correct ovarian reserve of AMH >1 and AFC >10. However, the information provided herein extends knowledge about the current state of COS for FMR1 mutation carriers in order to provide patients with proper counseling regarding the optimal number of oocytes needed to have a chance of transferring an unaffected embryo following PGT. STUDY FUNDING/COMPETING INTEREST(S): None. TRIAL REGISTRATION NUMBER: N/A.

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18. Stogiannos N, Harvey-Lloyd JM, Nugent B, Brammer A, Carlier S, Cleaver K, McNulty JP, C SDR, Malamateniou C. Autism-friendly MRI: Improving radiography practice in the UK, a survey of radiographer practitioners. Radiography (London, England : 1995). 2022; 28(1): 133-41.

INTRODUCTION: Autistic individuals undergoing magnetic resonance imaging (MRI) examinations may face significant challenges, mainly due to sensory overload and MRI environment-related limitations. This study aimed to explore radiographers’ perspectives and experiences regarding MRI scanning of autistic individuals. METHODS: Data collection was achieved using a specifically designed mixed methods questionnaire on Qualtrics. The snowball technique was used. This UK-wide survey was electronically distributed by three main recruitment agencies between December 2020 and February 2021. RESULTS: 130 valid responses were received. A lack of relevant training and knowledge related to autism was noted. Effective communication, optimisation and customisation of the MRI examination, and MRI environment adjustments facilitated the completion of a safe and effective MRI examination. Poor patient-radiographer communication, unavailability of Special Educational Needs (SEN) experts, lack of specialised radiographer training and lack of specific guidelines were identified as the main barriers to successful MRI examinations. CONCLUSION: Although routine MRI safety and patient care rules will apply, MRI scanning of autistic individuals requires customisation and reasonable adjustments in communication, environment, and training of clinical teams. In addition, guidelines should be established to be used as a reference point to improve clinical practice. The adjustments proposed by radiographers were all consistent with the interventions in the wider literature. IMPLICATIONS FOR PRACTICE: MRI practice for personalised care of autistic individuals should be aligned with current evidence, to customise communication and offer workflow and environmental adjustments. Formal training related to autism, integrated within radiography academic curricula and better co-ordination and communication of interdisciplinary teams would provide the necessary skill mix to deliver safe, high quality MRI scans with optimal experience for autistic service users and their carer(s).

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19. Yeh TC, Bai YM, Hsu JW, Huang KL, Tsai SJ, Chu HT, Liang CS, Chen MH. Bipolar women’s antepartum psychotropic exposure and offspring risk of attention-deficit/hyperactivity disorder and autism spectrum disorder. Journal of affective disorders. 2021; 295: 1407-14.

BACKGROUND: Women with bipolar disorder (BD) may continue psychotropics during pregnancy. The association of exposure to antidepressant, antipsychotics, and mood stabilizers with offspring risks of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) remains unexplored in mothers with BD. METHODS: A total of 5669 pregnant women with BD and 5669 psychiatrically healthy controls were identified between 2002 and 2011 from the Taiwan Longitudinal Health Insurance Database. We analyzed the odds ratios (ORs) of psychotropic types and exposure periods (3 months before pregnancy [3MbPreg] and first, second, and third trimesters [T1, T2, T3, respectively]) on the risk of ADHD and ASD by using adjusted logistic regression analyses. RESULTS: Antidepressant exposure during 3MbPreg (OR=2.15, 95% CI=1.45-3.20), T1 (OR=2.62, 95% CI=1.68-4.09), T2 (OR=2.33, 95% CI=1.18-4.63), and T3 (OR=2.33, 95% CI=1.67-6.61) was associated with increased offspring risk of ADHD, particularly for selective serotonin reuptake inhibitor and serotonin norepinephrine reuptake inhibitor. Mood stabilizer exposure during 3MbPreg increased the risks of ADHD (OR=2.39, 95% CI=1.45-3.95) and ASD (OR=3.89, 95% CI=1.30-11.65); a higher ADHD risk was associated with valproic acid (OR=2.43, 95% CI=1.32-4.47) and lamotrigine exposure (OR=8.24, 95% CI = 1.49-45.67); ASD risk was higher for lithium exposure (OR=6.75, 95% CI=1.41-32.28). LIMITATION: In claims-data analyses, several clinical parameters or potential confounders may be incompletely captured. CONCLUSIONS: Antidepressants were associated with higher offspring risk of ADHD over all gestation periods among mothers with BD than psychiatrically healthy controls, while mood stabilizers were associated with higher risk of ADHD and ASD during 3MbPreg.

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