Pubmed du 24/12/21

Pubmed du jour

1. Ceranoglu TA, Cassano P, Hoskova B, Green A, Dallenbach N, DiSalvo M, Biederman J, Joshi G. Transcranial Photobiomodulation in Adults with High-Functioning Autism Spectrum Disorder: Positive Findings from a Proof-of-Concept Study. Photobiomodulation, photomedicine, and laser surgery. 2022; 40(1): 4-12.

Objective: To assess the efficacy and safety of transcranial photobiomodulation (tPBM) in adults with autism spectrum disorder (ASD). Methods: Adults with high-functioning-ASD, between 18 and 59 years of age, were enrolled to receive twice a week tPBM for 8 weeks in an open-label single group design. ASD symptom severity was assessed at baseline, midpoint, and end-point, by clinician-, self-, and informant-rated measures. Treatment response was defined as a ≥30% reduction in Social Responsiveness Scale-2nd Edition (SRS-2) total score and ASD Clinical Global Impression-Improvement score ≤2. Any possible adverse events were recorded at each visit. Paired-samples t-test analyses were performed. Results: Eleven participants were enrolled, and 10 participants (9 males; 30.0 ± 11.9 years) completed the study. One participant withdrew consent before baseline. All 10 completers were included in efficacy and safety analyses. Five participants (50%) met responder criteria at end-point. Overall, 8-week tPBM was associated with significant reduction in SRS-2 total scores at end-point (SRS-2: -30.6 ± 23, p < 0.001) particularly in Social Awareness (-3.0 ± 1.9, p < 0.001), Social Communication (-10.3 ± 6, p < 0.001), Social Motivation (-5.0 ± 2.4, p < 0.001), and Restricted/Repetitive Behaviors (-7.4 ± 4.1, p < 0.001). There were statistically significant improvements at end-point in Global Assessment of Functioning scores (+12.8 ± 4.2, p < 0.001) and Quality of Life Enjoyment and Satisfaction Questionnaire scores (+6.0 ± 7.9, p = 0.02). Three participants experienced transient, mild side effects (insomnia, headache, and warmth at treatment application site). No adverse events required changes in tPBM protocol. Adherence rate was 98%. Conclusions: tPBM is a safe and feasible treatment approach that has the potential to treat core features of ASD. Further research is necessary and warranted. ClinicalTrials.gov Identifier: NCT03724552.

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2. Eigner B. [The snowflake family – Integrative play therapy for traumatized child with complex developmental disorder induced by family environment. Case study]. Psychiatria Hungarica : A Magyar Pszichiatriai Tarsasag tudomanyos folyoirata. 2021; 36(4): 557-96.

In the case of a little preschool boy, I would like to show how traumatic environmental influences affect a child’s development, coping strategies, as well as his symptomatic behavior, emotion and mood regulation, and social functioning. This little boy has also suffered many damaging environmental effects during his own life, losses, stressful situations, conflicts. In addition, the losses, traumas and injuries suffered by his parents also shaped his development, the development of his difficulties and symptoms. The range of early fractures was compounded by the trauma at Ákos, the loss of his biological mother giving up on him and adopting him. A few days after his birth, he was already adopted by his adoptive parents, whose own traumas as well as relationship difficulties prevented the child from developing optimally from the beginning. Paternal abusive behavior, which manifested itself in several forms, including partner abuse, as well as tension and inequalities in the relationship, also had a significant effect on the development of the child’s emotional and social development and symptoms. Abuse is cross-generational. There are complex causes and patterns in the background of early relationship pathologies, which can lead to developmental disorders and developmental trauma of the child. It is important to map this network of connections in order to better understand what environmental effects the child is trying to respond to – classified as abnormal and difficult to tolerate, but – with his adaptive behavior, coping attempts and cries for help. I try to present the intricacies of this and the attempts made to solve the revealed phenomena in the case of Ákos.

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3. Esposito M, Dipierro MT, Mondani F, Iurato G, Mirizzi P, Mazza M, Valenti M. Stimulus-Stimulus-Pairing to Reduce Stereotypies in Three Children with Autism during Movie Watching. Behavioral sciences (Basel, Switzerland). 2021; 11(12).

Autism spectrum disorders represent a challenge for professionals, who must include in their individualized educational interventions goals for core symptoms (social-communication and stereotypies/restricted interests) and comorbidities. The narrowness of interests and the high frequency of repetitive behaviors in children with autism often constitute an obstacle for learning and the quality of life, and for their caregivers as well. In the scientific literature, behavioral interventions based on both aversive and, less commonly, positive procedures have been implemented to reduce the frequency of stereotypies. The following study was carried out with the intention of replicating a Stimulus-Stimulus Pairing procedure applied by Nuzzolo-Gomez, Leonard, Ortiz, Rivera and Greer (2002) in order to reduce stereotypies in children. This procedure was applied to three children diagnosed with autism aged five, almost six and seven years, in order to reduce stereotypies when children watched movies. An A-B-A experimental design with three subjects was used for this research. The results showed a decrease in stereotypies in favor of appropriate behaviors.

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4. Factor RS, Rea HM, Dahiya AV, Albright J, Ollendick TH, Laugeson EA, Scarpa A. An Initial Pilot Study Examining Child Social Skills, Caregiver Styles, and Family Functioning in the PEERS® for Preschoolers Program for Young Autistic Children and their Caregivers. Research in developmental disabilities. 2022; 121: 104152.

BACKGROUND: Social impairments characteristic of autism spectrum disorder (ASD) are evident in early childhood and worsen as the child matures. Though many interventions for young children exist, few specifically target social skills and involve caregivers. AIMS: This pilot study examined PEERS® for Preschoolers, focusing on temporal change in child social skills, caregiver style, and family functioning in the context of a caregiver-assisted social skills intervention. This extension of the PEERS® program builds on the success of the intervention for older children, presenting skills in a developmentally appropriate manner to young autistic children and their caregivers. METHODS AND PROCEDURES: The present pilot study used a non-concurrent multiple baseline design to examine the above variables with 15 autistic children (Mage = 4.87, SD = 1.25; 11 boys). Children and caregivers participated in PEERS® for Preschoolers groups, with each group randomly assigned three different baseline periods (1.5, 2, or 2.5 weeks) before beginning. OUTCOMES AND RESULTS: Simulation Modeling Analysis (SMA) revealed concurrent improvements in social and caregiving skills, with subsequent changes in family functioning occurring over the course of this 16-session intervention. CONCLUSIONS AND IMPLICATIONS: Future research will need to examine mechanisms of change in PEERS® for Preschoolers for children and caregivers. WHAT THIS PAPER ADDS: There is a dearth of research that specifically examines social skills interventions for young autistic children that incorporates caregivers and examines family functioning as well. This paper is one of the first to evaluate the PEERS® for Preschoolers (P4P) intervention by: 1) exploring changes in child social skills, caregiver efficacy, and family functioning, and 2) analyzing the sequence of improvements in the aforementioned variables to measure systematic change. This pilot study presents results using appropriate methodology for a small sample size of children and caregivers. Results suggested concurrent improvements in social and caregiving skills and subsequent changes in family functioning. These can be built upon for further research on the PEERS® for Preschoolers intervention. This study supports PEERS® for Preschoolers as a feasible intervention that likely contributes to improvements for the child, caregiver in their relationship with their child and parenting styles in general, as well as functioning of the entire family. In sum, this work is essential to furthering the provision of a much needed service of social skills interventions for young autistic children.

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5. Hassan H, Zakaria F, Makpol S, Karim NA. A Link between Mitochondrial Dysregulation and Idiopathic Autism Spectrum Disorder (ASD): Alterations in Mitochondrial Respiratory Capacity and Membrane Potential. Current issues in molecular biology. 2021; 43(3): 2238-52.

Autism spectrum disorder (ASD) is a neurological disorder triggered by various factors through complex mechanisms. Research has been done to elucidate the potential etiologic mechanisms in ASD, but no single cause has been confirmed. The involvement of oxidative stress is correlated with ASD and possibly affects mitochondrial function. This study aimed to elucidate the link between mitochondrial dysregulation and idiopathic ASD by focusing on mitochondrial respiratory capacity and membrane potential. Our findings showed that mitochondrial function in the energy metabolism pathway was significantly dysregulated in a lymphoblastoid cell line (LCL) derived from an autistic child (ALCL). Respiratory capacities of oxidative phosphorylation (OXPHOS), electron transfer of the Complex I and Complex II linked pathways, membrane potential, and Complex IV activity of the ALCL were analyzed and compared with control cell lines derived from a developmentally normal non-autistic sibling (NALCL). All experiments were performed using high-resolution respirometry. Respiratory capacities of OXPHOS, electron transfer of the Complex I- and Complex II-linked pathways, and Complex IV activity of the ALCL were significantly higher compared to healthy controls. Mitochondrial membrane potential was also significantly higher, measured in the Complex II-linked pathway during LEAK respiration and OXPHOS. These results indicate the abnormalities in mitochondrial respiratory control linking mitochondrial function with autism. Correlating mitochondrial dysfunction and autism is important for a better understanding of ASD pathogenesis in order to produce effective interventions.

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6. Hayashi Y, Kushima I, Aleksic B, Senaha T, Ozaki N. Variable psychiatric manifestations in patients with 16p11.2 duplication: a case series of 4 patients. Psychiatry and clinical neurosciences. 2022; 76(3): 86-8.

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7. Jabouille F, Billot M, Hermand E, Lemonnier E, Perrochon A. Balance rehabilitation for postural control in children with Autism Spectrum Disorder: A two-case report study. Physiotherapy theory and practice. 2021: 1-9.

OBJECTIVE: This study aimed to investigate the effect of balance rehabilitation on postural control in both low and increased cognitive load conditions in two children with Autism Spectrum Disorders (ASD). METHODS: Two children diagnosed with ASD participated in a 4-week personalized balance rehabilitation program with two sessions per week. We assessed postural control in two single task (ST) conditions with low cognitive load: Eyes Closed (EC), Eyes Open (EO); and in five increased cognitive load conditions. Those dual task (DT) conditions consisted of presenting images representing a neutral condition, sadness, anger, happiness, and fear. Postural control parameters (surface, velocity, medio-lateral and antero-posterior sway amplitudes of the center of pressure (CoP)) were collected by a posturographic platform before and after the balance rehabilitation. RESULTS: The rehabilitation program resulted in a 30-96% improvement of postural control parameters in the ST condition for both participants. In DT, participant 1 progressed on all conditions while participant 2 progressed on 3 of the 5 conditions (sadness, anger and fear). CONCLUSION: This suggests that these two children with ASD improved their balance control in both low and increased cognitive load conditions. These encouraging results need to be replicated before recommending balance rehabilitation as standard health rehabilitation in children with ASD.

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8. Kaku SM, McVey AJ, Gerber AH, Pretzsch CM, Jones DR, Kodakkadan FM, Lei J, Singer L, Chitehwe L, Poulsen RE, Coffman M. Experiences of student and trainee autism researchers during the COVID-19 pandemic. Autism research : official journal of the International Society for Autism Research. 2022; 15(3): 413-20.

Circumstances surrounding the COVID-19 pandemic have resulted in significant personal and professional adjustments. Students and trainees, including those in autism research, face unique challenges to accomplishing their training and career goals during this unprecedented time. In this commentary, we, as members of the International Society for Autism Research Student and Trainee Committee, describe our personal experiences, which may or may not align with those of other students and trainees. Our experiences have varied both in terms of the ease (or lack thereof) with which we adapted and the degree to which we were supported in the transition to online research and clinical practice. We faced and continue to adjust to uncertainties about future training and academic positions, for which opportunities have been in decline and have subsequently negatively impacted our mental health. Students and trainees’ prospects have been particularly impacted compared to more established researchers and faculty. In addition to the challenges we have faced, however, there have also been unexpected benefits in our training during the pandemic, which we describe here. We have learned new coping strategies which, we believe, have served us well. The overarching goal of this commentary is to describe these experiences and strategies in the hope that they will benefit the autism research community moving forward. Here, we provide a set of recommendations for faculty, especially mentors, to support students and trainees as well as strategies for students and trainees to bolster their self-advocacy, both of which we see as crucial for our future careers. LAY SUMMARY: The COVID-19 pandemic has affected students and trainees, including those in autism research, in different ways. Here, we describe our personal experiences. These experiences include challenges. For example, it has been difficult to move from in-person to online work. It has also been difficult to keep up with work and training goals. Moreover, working from home has made it hard to connect with our supervisors and mentors. As a result, many of us have felt unsure about how to make the best career choices. Working in clinical services and getting to know and support our patients online has also been challenging. Overall, the pandemic has made us feel more isolated and some of us have struggled to cope with that. On the other hand, our experiences have also included benefits. For example, by working online, we have been able to join meetings all over the world. Also, the pandemic has pushed us to learn new skills. Those include technical skills but also skills for well-being. Next, we describe our experiences of returning to work. Finally, we give recommendations for trainees and supervisors on how to support each other and to build a strong community.

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9. Kim JY, Choi MJ, Ha S, Hwang J, Koyanagi A, Dragioti E, Radua J, Smith L, Jacob L, de Pablo GS, Lee SW, Yon DK, Thompson T, Cortese S, Lollo G, Liang CS, Chu CS, Fusar-Poli P, Cheon KA, Shin JI, Solmi M. Association between autism spectrum disorder and inflammatory bowel disease: A systematic review and meta-analysis. Autism research : official journal of the International Society for Autism Research. 2022; 15(2): 340-52.

Children with autism spectrum disorder (ASD) are frequently diagnosed with co-occurring medical conditions including inflammatory bowel disease (IBD). To investigate the association, we conducted a systematic review registered in PROSPERO (ID:CRD42021236263) with a random-effects meta-analysis. We searched PubMed, Embase, and PsycInfo (last search on January 25, 2021), and manually searched relevant publications. We included observational studies measuring the association between ASD and IBD. The primary outcome was the association (odds ratio, OR) between ASD and later development of IBD. Sensitivity analyses were conducted by quality, confounding adjustment, and study design. We performed meta-regression analyses and assessed heterogeneity, publication bias, and quality of studies with the Newcastle-Ottawa Scale. Overall, we included six studies consisting of eight datasets, including over 11 million participants. We found that ASD was significantly associated with subsequent incident IBD (any IBD, OR = 1.66, 95% confidence interval[CI] = 1.25-2.21, p < 0.001; ulcerative colitis, OR = 1.91, 95%CI = 1.41-2.6, p < 0.001; Crohn's disease, OR = 1.47, 95%CI = 1.15-1.88, p = 0.002). ASD and IBD were also associated regardless of temporal sequence of diagnosis (any IBD, OR = 1.57, 95%CI = 1.28-1.93, p < 0.001; ulcerative colitis, OR = 1.7, 95%CI = 1.36-2.12, p < 0.001; Crohn's disease, OR = 1.37, 95%CI = 1.12-1.69, p = 0.003). Sensitivity analyses confirmed the findings of the main analysis. Meta-regression did not identify any significant moderators. Publication bias was not detected. Quality was high in four datasets and medium in four. In conclusion, our findings highlight the need to screen for IBD in individuals with ASD, and future research should identify who, among those with ASD, has the highest risk of IBD, and elucidate the shared biological mechanisms between ASD and IBD. LAY SUMMARY: This systematic review and meta-analysis of eight observational datasets found that individuals with autism spectrum disorder (ASD) are more likely to develop any inflammatory bowel disease, ulcerative colitis, or Crohn's disease. Our findings highlight the need to screen for inflammatory bowel disease in patients with ASD and elucidate the shared biological mechanisms between the two disorders.

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10. Sánchez-Cueva S, Alonso-Esteban Y, Alcantud-Marín F. Assessment of Anxiety in Cognitive-Behavior Therapy in Young University Students with Autism Spectrum Disorders: A Review. European journal of investigation in health, psychology and education. 2021; 11(4): 1571-80.

The university provides academic support to disabled students, however, few institutions provide academic, extra-academic or preventive support to students with Autism Spectrum Disorders High-Functioning (ASD-HF). Among the most commonly requested needs is support for coping with anxiety arising from academic and social activity itself. When planning an intervention program, it is necessary to screen those who have problems and are likely to benefit from such a program. In this article we propose a systematic search for measures of anxiety for young people and adults with ASD-HF. Of a total of 683 documents, only 7 met the selection criteria. Of these, a total of 35 tools were detected, of which only 11 mediated anxiety. Screening should be carried out for all students, so that we can detect the « risk » of anxiety disturbance in all cases and, in particular, in students with ASD-HF. However, the instruments eligible for assessing intervention outcomes should be agreed upon in order to be able to compare results from different trials.

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11. Stancliffe RJ, Pettingell SL, Tichá R, Houseworth J. Mothers and fathers with intellectual and developmental disabilities who use US disability services: prevalence and living arrangements. Journal of intellectual disability research : JIDR. 2022; 66(3): 297-305.

BACKGROUND: Little information is available on the prevalence of mothers and fathers with intellectual and developmental disabilities among US disability-service users. Child removal is a key issue for these parents. METHODS: We analysed 2018-19 National Core Indicators data from 35 states on US adults with intellectual and developmental disabilities being a parent. For parents of a child under 18, we examined whether the child lived with them. RESULTS: Prevalence of parenthood was 3.7% (6.0% women, 2.1% men). Among parents of a child under 18, 44.0% had their child living with them. Being a mother, being married and living with family were positively associated with child co-residence. Parents with co-resident children mainly lived in their own home (59.7%) or their family’s home (32.3%). CONCLUSIONS: Our prevalence estimate suggests a national total of 33 794 US parents who use intellectual and developmental disabilities services. For parents living with their child, a critical task for disability services is to enable parents and children to live in a family setting.

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12. Zosen D, Austdal LPE, Bjørnstad S, Lumor JS, Paulsen RE. Antiepileptic drugs lamotrigine and valproate differentially affect neuronal maturation in the developing chick embryo, yet with PAX6 as a potential common mediator. Neurotoxicology and teratology. 2022; 90: 107057.

Exposing the immature nervous system to specific antiepileptic drugs (AEDs) during pregnancy is linked to neurodevelopmental disorders such as autism spectrum disorder (ASD). Newer AEDs like lamotrigine (LTG) are hailed as safer, but recent epidemiological data suggest that even LTG carries a risk, although much lower than that associated with valproic acid (VPA), an older AED, which is also known to cause morphological alterations in the developing brain. Increasing evidence highlights cerebellar abnormalities as important in ASD pathophysiology. Transcription factor PAX6 is a key activity-dependent mediator and regulates crucial processes during cerebellar development. The chicken cerebellum recapitulates important characteristics of human cerebellar development, and may thus be suitable for the assessment of interventions aiming to modify maturation and cerebellar development. In the present study, exposure of chicken on embryonic day 16 (E16) to LTG or VPA resulted in decreased cerebellar mass and level of proliferating nuclear cell antigen (PCNA) for clinically relevant concentrations of VPA. However, both AEDs reduced cerebellar protein levels of PAX6 and MMP-9 at E17. Furthermore, PAX6 immunohistochemical staining of coronal sections of chicken cerebellum showed a significant reduction in PAX6-positive cell density and changes in cerebellar cortex thickness, mostly caused by the change in IGL-layer thickness. In conclusion, prenatal exposure to LTG or VPA provoked differential maturational changes in the developing cerebellum that may reflect some of the underlying molecular mechanisms for the observed human ASD pathology after AEDs exposure during pregnancy.

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