1. Acharya S, Sharma K. Lived Experiences of Mothers Raising Children with Autism in Chitwan District, Nepal. Autism research and treatment. 2021; 2021: 6614490.

BACKGROUND: Autism is a neurodevelopmental problem that is increasing at an alarming rate worldwide. Rearing and caring for children with autism depends upon the perception of mothers and various factors associated with it. There is a gap in the literature regarding the detailed accounts of mother’s experiences regarding autism in Nepal. Hence, this study was undertaken to explore lived experiences of mothers raising children with autism. MATERIALS AND METHODS: Qualitative phenomenological study design was used and nine mothers with autistic children were selected using purposive sampling technique. Data were collected using in-depth interview guidelines and analyzed using Colaizzi’s steps. RESULTS: Findings of the study revealed that mothers raising children with autism encountered numerous problems in their life. They felt physically exhausted due to the continuous supervision of their child. Emotional problems such as denial, upset/sadness, and worry were also common among them. In addition, all mothers faced social problems such as social blame, social isolation, and ignorance from their relatives and society due to the atypical behavior of their child. Furthermore, the economic problem was also acute among mothers due to job loss, costly medical treatment, and therapies. So, to deal with the stressors they faced, mothers adopted various coping strategies such as respite care, problem-focused strategies, religious coping, and positive coping in their everyday life. CONCLUSION: In conclusion, to the authors’ knowledge, this is the first study documenting the experiences of Nepalese mothers having autistic children. Hence, health care professionals need to pay more attention to address the problems of mothers while treating their autistic children. The Government of Nepal also needs to formulate a policy for the rehabilitation of autistic children in society.

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2. Colombo E, Horta G, Roesler MK, Ihbe N, Chhabra S, Radyushkin K, Di Liberto G, Kreutzfeldt M, Schumann S, von Engelhardt J, Merkler D, Behl C, Mittmann T, Clement AM, Waisman A, Schmeisser MJ. The K63 deubiquitinase CYLD modulates autism-like behaviors and hippocampal plasticity by regulating autophagy and mTOR signaling. Proceedings of the National Academy of Sciences of the United States of America. 2021; 118(47).

Nondegradative ubiquitin chains attached to specific targets via Lysine 63 (K63) residues have emerged to play a fundamental role in synaptic function. The K63-specific deubiquitinase CYLD has been widely studied in immune cells and lately also in neurons. To better understand if CYLD plays a role in brain and synapse homeostasis, we analyzed the behavioral profile of CYLD-deficient mice. We found that the loss of CYLD results in major autism-like phenotypes including impaired social communication, increased repetitive behavior, and cognitive dysfunction. Furthermore, the absence of CYLD leads to a reduction in hippocampal network excitability, long-term potentiation, and pyramidal neuron spine numbers. By providing evidence that CYLD can modulate mechanistic target of rapamycin (mTOR) signaling and autophagy at the synapse, we propose that synaptic K63-linked ubiquitination processes could be fundamental in understanding the pathomechanisms underlying autism spectrum disorder.

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3. Dechsling A, Orm S, Kalandadze T, Sütterlin S, Øien RA, Shic F, Nordahl-Hansen A. Virtual and Augmented Reality in Social Skills Interventions for Individuals with Autism Spectrum Disorder: A Scoping Review. Journal of autism and developmental disorders. 2021.

In the last decade, there has been an increase in publications on technology-based interventions for autism spectrum disorder (ASD). Virtual reality based assessments and intervention tools are promising and have shown to be acceptable amongst individuals with ASD. This scoping review reports on 49 studies utilizing virtual reality and augmented reality technology in social skills interventions for individuals with ASD. The included studies mostly targeted children and adolescents, but few targeted very young children or adults. Our findings show that the mode number of participants with ASD is low, and that female participants are underrepresented. Our review suggests that there is need for studies that apply virtual and augmented realty with more rigorous designs involving established and evidenced-based intervention strategies.

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4. Enekvint A, Wonneberger W, Zetterberg M. [Xerophthalmia in a 7-year-old autistic child]. Lakartidningen. 2021; 118.

Vitamin A deficiency and xerophthalmia is a rare finding in developed countries. We report a severe case of xerophthalmia in a 7-year-old autistic child with restricted diet. Both eyes had Bitot’s spots and ulceration. The right cornea had a perforation at admission. After treatment with high doses of vitamin A the right cornea epithelialized with formation of the anterior chamber and the left eye healed completely. This case adds to the increasing number of reports on cases of xerophthalmia particularly in autistic children and highlights the importance of considering vitamin A deficiency in patients with risk of malnutrition also in developed countries.

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5. Feng Y, Zhou X, Qin X, Cai G, Lin Y, Pang Y, Chen B, Deng T, Zhang L. Parental self-efficacy and family quality of life in parents of children with autism spectrum disorder in China: The possible mediating role of social support. Journal of pediatric nursing. 2022; 63: 159-67.

OBJECTIVE: This study explored the related factors of FQOL in parents of children with ASD and examined whether social support mediates the relationship between parental self-efficacy and FQOL in parents of children with ASD. DESIGN AND METHODS: Using a cross-sectional design, a total of 260 parents of children with ASD were recruited from September 2019 to November 2020. They completed the Beach Center Family Quality of Life Scale, the Parenting Sense of Competence Scale, and the Social Support Rating Scale. RESULTS: Parental self-efficacy and social support explained approximately 49.5% of the variance in FQOL. After controlling for the confounding influence of parents’ education level, parental self-efficacy had a direct effect on FQOL (β = 0.292, SE = 0.108, P < 0.01) and an indirect effect on FQOL (β = 0.165, SE = 0.069, P < 0.01). Effects were mediated through social support, with partial mediating effects accounting for 36.11% of the total effect. CONCLUSIONS: Both parental self-efficacy and social support are critical to promoting FQOL, and a partial mediating effect of social support was established. PRACTICAL IMPLICATIONS: Interventions for families with children with ASD should focus on enhancing parental self-efficacy, followed by a perceived social support and FQOL prompt.

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6. Finsterer J. Autism spectrum disorder: A mitochondrial disorder. Iranian journal of child neurology. 2021; 15(4): 115-7.

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7. Foglia V, Siddiqui H, Khan Z, Liang S, Rutherford MD. Distinct Biological Motion Perception in Autism Spectrum Disorder: A Meta-Analysis. Journal of autism and developmental disorders. 2021.

If neurotypical people rely on specialized perceptual mechanisms when perceiving biological motion, then one would not expect an association between task performance and IQ. However, if those with ASD recruit higher order cognitive skills when solving biological motion tasks, performance may be predicted by IQ. In a meta-analysis that included 19 articles, we found an association between biological motion perception and IQ among observers with ASD but no significant relationship among typical observers. If the task required emotion perception, then there was an even stronger association with IQ in the ASD group.

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8. Horner-Johnson W, Lindner S, Levy A, Hall J, Kurth N, Garcia E, Frame A, Phillips K, Momany E, Lurie M, Shin Y, Lauer E, Kunte P, Silverstein R, Okoro C, McDermott S. Time trends in emergency department use among adults with intellectual and developmental disabilities. Disability and health journal. 2022; 15(2): 101225.

BACKGROUND: Emergency Department (ED) visits are common among adults with intellectual and developmental disabilities (IDD). However, little is known about how ED use has varied over time in this population, or how it has been affected by recent Medicaid policy changes. OBJECTIVE: To examine temporal trends in ED use among adult Medicaid members with IDD in eight states that ranged in the extent to which they had implemented state-level Medicaid policy changes that might affect ED use. METHODS: We conducted repeated cross-sectional analyses of 2010-2016 Medicaid claims data. Quarterly analyses included adults ages 18-64 years with IDD (identified by diagnosis codes) who were continuously enrolled in Medicaid for the past 12 months. We assessed change in number of ED visits per 1000 member months from 2010 to 2016 overall and interacted with state level policy changes such as Medicaid expansion. RESULTS: States with no Medicaid expansion experienced an increase in ED visits (linear trend coefficient: 1.13, p < 0.01), while states operating expansion via waiver had a much smaller (non-significant) increase, and states with ACA-governed expansion had a decrease in ED visits (linear trend coefficient: 1.17, p < 0.01). Other policy changes had limited or no association with ED visits. CONCLUSIONS: Medicaid expansion was associated with modest reduction or limited increase in ED visits compared to no expansion. We found no consistent decrease in ED visits in association with other Medicaid policy changes.

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9. Lucchelli JP. [Georg Frankl: the third or first man in the genesis of autism?]. Vertex (Buenos Aires, Argentina). 2021; Xxxii(151): 55-61.

Autism is a developmental disorder that has significant consequences on the future of the individuals concerned. Officially described for the first time in the 1940’s, the disorder knew conceptual oscillations, but increasingly it is considered a sort of spectrum or continuum characterized mainly by a difficulty in social communication. In this article we will show how two very different clinical types of the autistic spectrum, i.e. the clinical descriptions of Kanner and Asperger’s, owe much to the role played by the Viennese psychiatrist Georg Frankl who worked with both clinicians. Frankl’s role would not only have been that a sort of channel of communication between Kanner and Asperger, but it would have been Frankl who influenced both psychiatrists in a decisive way.

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10. Masri AT, Nasir A, Irshaid F, Alomari F, Irshaid A, Al-Qudah A, Nafi O, Almomani M. Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas. Autism : the international journal of research and practice. 2021: 13623613211055535.

Autism is the most common neurodevelopmental disorder in children worldwide. Genetic factors play an important role in the risk of developing autism. Determining the genetic cause of autism is key to understanding the biological processes that lead to the clinical manifestations of autism, and can inform the management and even prevention of this condition. Establishing genetic causes of autism requires collection of genetic data on a global scale. Limited research on genetic testing for individuals with autism is available from developing countries in low-resource regions. In this study, we explored the types of investigations ordered for Jordanian children with autism by their physicians. A representative sample of parents of children with autism in Jordan was questioned about the studies that their children received. We found that the recommended genetic testing was only performed in a small number of children with autism. In contrast, most children in the sample received non-genetic testing, which is not routinely recommended. We also explored the sociocultural factors that may influence the decision to perform genetic testing in this population. We discuss our findings in light of the data available from other developing and developed countries.

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11. Obiweluozo PE, Dike IC, Ogba FN, Elom CO, Orabueze FO, Okoye-Ugwu S, Ani CK, Onu AO, Ukaogo V, Obayi LN, Abonyi SE, Onu J, Omenma ZO, Okoro ID, Eze A, Igu NC, Onuigbo LN, Umeano EC, Onyishi CN. Stress in teachers of children with neuro-developmental disorders: Effect of blended rational emotive behavioral therapy. Science progress. 2021; 104(4): 368504211050278.

BACKGROUND/OBJECTIVES: Neuro-developmental disorders impose a wide range of learning barriers on learners, increasing stress among their teachers. Evidence attests to the heightened stress among teachers teaching children with such conditions. This study tested the efficacy of blended Rational Emotive Behavior Therapy in reducing job stress among teachers of children with neuro-developmental disorders in Abia State, Nigeria. METHOD: The current study adopted a group-randomized waitlist control trial design with pretest, post-test, and follow-up assessments. Participants (N = 83) included teachers of children with neuro-developmental disorders in inclusive and specialized schools. The blended Rational Emotive Behavior Therapy group participated in a 2 h intersession face-to-face and online Rational Emotive Behavior Therapy (REBT) program weekly for 12 weeks. Data were collected using the Single Item Stress Questionnaire, Teachers’ Stress Inventory, and Participants’ Satisfaction questionnaire. The waitlisted group also received a blended Rational Emotive Behavior Therapy intervention after all data collection. Data collected at baseline; post-test as well as follow-up 1 and 2 evaluations were analyzed using mean, standard deviation, t-test statistics, repeated measures analysis of variance, and charts. RESULTS: Results revealed that the mean perceived stress, stress symptoms, and the total teachers’ stress score of the blended Rational Emotive Behavior Therapy group at post-test and follow-up assessments reduced significantly, compared to the waitlisted group. Participants also reported a high level of satisfaction with the therapy and procedures. CONCLUSION: From the findings of this study, we conclude that blended Rational Emotive Behaviour Therapy is efficacious in occupational stress management among teachers of children with neuro-developmental disorders.

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12. Qin L, Williams JB, Tan T, Liu T, Cao Q, Ma K, Yan Z. Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures. Nature communications. 2021; 12(1): 6589.

ASH1L, a histone methyltransferase, is identified as a top-ranking risk factor for autism spectrum disorder (ASD), however, little is known about the biological mechanisms underlying the link of ASH1L haploinsufficiency to ASD. Here we show that ASH1L expression and H3K4me3 level are significantly decreased in the prefrontal cortex (PFC) of postmortem tissues from ASD patients. Knockdown of Ash1L in PFC of juvenile mice induces the downregulation of risk genes associated with ASD, intellectual disability (ID) and epilepsy. These downregulated genes are enriched in excitatory and inhibitory synaptic function and have decreased H3K4me3 occupancy at their promoters. Furthermore, Ash1L deficiency in PFC causes the diminished GABAergic inhibition, enhanced glutamatergic transmission, and elevated PFC pyramidal neuronal excitability, which is associated with severe seizures and early mortality. Chemogenetic inhibition of PFC pyramidal neuronal activity, combined with the administration of GABA enhancer diazepam, rescues PFC synaptic imbalance and seizures, but not autistic social deficits or anxiety-like behaviors. These results have revealed the critical role of ASH1L in regulating synaptic gene expression and seizures, which provides insights into treatment strategies for ASH1L-associated brain diseases.

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13. Rosenbaum P. Advocating for children with impairments and their families: a proposed model. Developmental medicine and child neurology. 2021; 63(12): 1364.

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14. Sampaio AC, Matos FFN, Lopes LL, Marques Í MM, Tavares RM, Fernandes MVM, Teixeira M, Brito AB, Feitosa AC, Guedes TO, Mota ML. Association of the Maternal Folic Acid Supplementation with the Autism Spectrum Disorder: A Systematic Review. Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia. 2021; 43(10): 775-81.

OBJECTIVE:  To analyze the scientific production regarding maternal folic acid (FA) supplementation and its relationship with autistic spectrum disorder (ASD). DATA SOURCES:  We performed unrestricted electronic searches in the BIREME virtual bank, Virtual Health Library (VHL) and Medical Literature Analysis and Retrieval System Online (MEDLINE/PubMed) databases. SELECTION OF STUDIES:  For sample selection, articles that met the proposed objectives were included, published in English, Spanish and Portuguese, the use of Health Sciences Descriptors (DeCS): autistic OR autism AND autism spectrum disorder AND folic acid, AND, with the use of the Medical Subject Headings (MeSH): autistic OR autism AND autistic spectrum disorder AND folic acid. DATA COLLECTION:  Data extraction was performed by the reviewers with a preestablished data collection formulary. DATA SYNTHESIS:  The Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P) was used based on a checklist with 27 items and a 4-step flowchart. RESULTS:  A total of 384 articles was found by the search strategies, of which 17 were eligible following the pre-established criteria. The main findings of the present review point to maternal FA supplementation in the pre-conception period and beginning of pregnancy as a protective effect in relation to ASD, which should be indicated in this period as prevention to the problem. CONCLUSION:  According to the research analyzed, more studies are necessary to know its effects on pregnancy, since the consumption of excessive FA may not be innocuous.

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15. Yang L, Jiang M, Yu R, Hu R, Xiong F, Li J. A case report of precocious puberty related to Rett syndrome and a literature review. Die Pharmazie. 2021; 76(11): 559-61.

Rett syndrome is an X-linked dominant disorder, and the typical phenotype includes intractable epileptic seizures and severe mental retardation, in particular, a rapid regression in language and limited progress in psychomotor development. Premature breast and pubic hair development and advanced bone age are signs of precocious puberty (PP), defined as puberty occurring before 8 years of age in girls. There are rare reports about precious puberty associated with Rett syndrome. Herein, we report the case of a patient with Rett syndrome with precocious puberty. Her first signs of PP occurred 6 months prior to presentation (at 7.5 years old), and the laboratory measurements, including tests of bone age and gonadotropin-releasing hormone stimulation, were positive for PP. PP was controlled after treatment with leuprorelin 3.75 mg for one year. In addition, the genetic and phenotypic spectrum of previously reported cases of Rett syndrome with precocious puberty are reviewed and summarized.

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