1. Brault V, Nguyen TL, Flores-Gutiérrez J, Iacono G, Birling MC, Lalanne V, Meziane H, Manousopoulou A, Pavlovic G, Lindner L, Selloum M, Sorg T, Yu E, Garbis SD, Hérault Y. Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome. PLoS genetics. 2021; 17(9): e1009777.

Perturbation of the excitation/inhibition (E/I) balance leads to neurodevelopmental diseases including to autism spectrum disorders, intellectual disability, and epilepsy. Loss-of-function mutations in the DYRK1A gene, located on human chromosome 21 (Hsa21,) lead to an intellectual disability syndrome associated with microcephaly, epilepsy, and autistic troubles. Overexpression of DYRK1A, on the other hand, has been linked with learning and memory defects observed in people with Down syndrome (DS). Dyrk1a is expressed in both glutamatergic and GABAergic neurons, but its impact on each neuronal population has not yet been elucidated. Here we investigated the impact of Dyrk1a gene copy number variation in glutamatergic neurons using a conditional knockout allele of Dyrk1a crossed with the Tg(Camk2-Cre)4Gsc transgenic mouse. We explored this genetic modification in homozygotes, heterozygotes and combined with the Dp(16Lipi-Zbtb21)1Yey trisomic mouse model to unravel the consequence of Dyrk1a dosage from 0 to 3, to understand its role in normal physiology, and in MRD7 and DS. Overall, Dyrk1a dosage in postnatal glutamatergic neurons did not impact locomotor activity, working memory or epileptic susceptibility, but revealed that Dyrk1a is involved in long-term explicit memory. Molecular analyses pointed at a deregulation of transcriptional activity through immediate early genes and a role of DYRK1A at the glutamatergic post-synapse by deregulating and interacting with key post-synaptic proteins implicated in mechanism leading to long-term enhanced synaptic plasticity. Altogether, our work gives important information to understand the action of DYRK1A inhibitors and have a better therapeutic approach.

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2. Chavers TN, Morris M, Schlosser RW, Koul R. Effects of a Systematic Augmentative and Alternative Communication Intervention Using a Speech-Generating Device on Multistep Requesting and Generic Small Talk for Children With Severe Autism Spectrum Disorder. American journal of speech-language pathology. 2021; 30(6): 2476-91.

Purpose The purpose of this study was to determine the effects of augmentative and alternative communication (AAC) intervention using a speech-generating device (SGD) on acquisition, maintenance, and generalization of multistep requesting and generic small talk in three children with severe autism spectrum disorder (ASD) between the ages of 7 and 13 years. Method A multiple-baseline design across participants combined with a posttreatment multiple-generalization-probe design was used to assess acquisition, generalization, and maintenance of target communicative behaviors with the experimenter and the participants’ familiar communication partners (FCPs). Intervention was composed of systematic instruction in the use of an SGD using least-to-most prompting, constant time delay, error correction, and reinforcement. Results Visual analysis established a strong functional relationship between the independent variable and the two dependent variables (i.e., requesting preferred activities, engaging in generic small talk) for all three participants. Effect size indicator analyses corroborated these findings, indicating strong effects for performing multistep requesting and medium effects for engaging in generic small talk. All participants were able to generalize the acquired communicative behaviors to request new and untrained snacks and activities and engage in generic small talk with FCPs who were not part of the training. Maintenance of acquired communicative behaviors was demonstrated 3 weeks post completion of intervention. Conclusion This study provides preliminary evidence that AAC intervention using an SGD and incorporating least-to-most prompting, constant time delay, error correction, and reinforcement is effective in terms of multistep requesting and generic small talk behaviors in children with severe ASD. Supplemental Material https://doi.org/10.23641/asha.16663630.

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3. Gong X, Li X, Wang Q, Hoi SP, Yin T, Zhao L, Meng F, Luo X, Liu J. Comparing visual preferences between autism spectrum disorder (ASD) and normal children to explore the characteristics of visual preference of ASD children by improved visual preference paradigm: a case-control study. Translational pediatrics. 2021; 10(8): 2006-15.

BACKGROUND: One of features of Visual preference in autism spectrum disorder (ASD) is that they tend to social stimuli to nonsocial stimuli. Though it has been studied widely, until now the results are still not consistent. One of the most important reasons may be that the stimuli of the past visual preference paradigm have different movement patterns. Therefore, the present study aimed to improve the visual preference paradigm to reduce the bias caused by different movement of stimuli and explore the features of visual preference of ASD further. METHODS: Two hundred and seven children who met DSM-5 criteria for ASD and 125 typically developmental (TD) children were enrolled. They were matched in age and gender. Visual preference was measured by eye tracking technology. The subjects presented simultaneously with dynamic object images (DOI) and dynamic social images (DSI) with the same type and same speed of repetitive movement. Social interaction deficits of ASD were assessed by parents with Aberrant Behavior Checklist (ABC). RESULTS: Compared with TD children, the following findings were noted: (I) children with ASD paid less attention to social stimuli and more attention to nonsocial stimuli (t=6.417, P<0.001). (II) Increased preference to DSI was positively correlated with age (R=0.23, P=0.001). (III) No association was noted between visual preference and IQ in children with ASD (R=0.081, P=0.435). (IV) Reduced preference to DSI was negatively correlated with the severity of social interaction impairment rated by parents with ABC in children with ASD (R=0.237, P=0.010). CONCLUSIONS: Children with ASD exhibited abnormal visual preference for social and nonsocial stimuli.

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4. Rios Colorado JD, Sánchez DP, Ordoñez Mora LT. [Psychomotor evaluation tools in autistic spectrum disorder. Exploratory review.]. Revista espanola de salud publica. 2021; 95.

BACKGROUND: The clinical evaluation is fundamental in the diagnosis of autism spectrum disorder (ASD) and must include the evaluation of the psychomotor development in an integral way that allows to identify the interaction between the somatic and the affective, and in the long term, positively influence the overall development of the child. The objective of this work was to identify validated psychomotor assessment tools in autism spectrum disorder in the current literature. METHODS: An exploratory review was carried out following the Prisma-SCR criteria from searches in electronic databases, including PUBMED, SCIENCE DIRECT, LILACS, SCOPUS and PEDRO, only publications between the years 2010-2020 were taken into account. validation that will include people with ASD from 2 to 14 years old. RESULTS: 25 studies met the inclusion criteria, of which only the Gross Motor Development Test-3 (TGDM3) is recognized as a psychomotor exploration test through six locomotor activities and six object control. CONCLUSIONS: The tools found are very broad compared to the measurement criteria and many of them are used as screening tests for ASD.

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5. Tathgur MK, Kang HK. Challenges of the Caregivers in Managing a Child with Autism Spectrum Disorder- A Qualitative Analysis. Indian journal of psychological medicine. 2021; 43(5): 416-21.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurological condition resulting in impaired social interaction and difficulty in understanding verbal and nonverbal communication. Caring for children with ASDs is challenging for both children and their caregivers. The child suffering from ASD starts to show the developmental outcome during early 2.5-3 years and continues thereafter till the child turns to an adult. Many caregivers face severe financial crises, high out-of-pocket healthcare expenses, and unemployment. Previous studies have reported a plethora of psychosocial problems affecting caregivers of children with ASD, ranging from stress, depression, anxiety, restrictions of activities, strain in marital relationships, and diminished physical health. OBJECTIVE: This article aims to explore the concerns of the caregivers of children suffering from ASD. Aggregate themes were prepared based upon Corley and Gioia’s method of data structuring. METHODS: After development and validation of an interview schedule, verbatim of seven caregivers of children with ASD were imported on the Atlas.ti version 8. Initial coding and final coding were followed by extracting the aggregate themes. Lincoln and Guba’s framework was used to assess the quality criteria as a part of qualitative analysis. RESULTS: Caregivers face various challenges while caring for a child with ASD, with a negative impact on physical health, psychological well-being, societal reactions, and financial balance. Caregivers reported concerns related to service availability for ASD, poorly coping with the diagnostics, and disease processes. CONCLUSIONS: Caregivers undergo a lot of problems while taking care of a child with ASD. Health professionals must have an understanding of these problems and must provide the education and information for a better management. Furthermore, the findings of this study have policy implications for the health authorities for providing better health services to children diagnosed with ASD.

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6. von Gontard A, Hussong J, Yang SS, Chase J, Franco I, Wright A. Neurodevelopmental disorders and incontinence in children and adolescents: Attention-deficit/hyperactivity disorder, autism spectrum disorder, and intellectual disability-A consensus document of the International Children’s Continence Society. Neurourology and urodynamics. 2022; 41(1): 102-14.

AIMS: Neurodevelopmental disorders (NDs) are incapacitating disorders, which begin early in life, are mainly caused by genetic and neurobiological factors, and show a tendency to persist. They are associated with higher rates of incontinence in children and adolescents, including nocturnal enuresis, daytime urinary incontinence, fecal incontinence, and constipation. Without diagnosis and treatment, they will interfere with incontinence treatment leading to less favorable outcomes. The aim of this International Children’s Continence Society (ICCS) document is to provide an overview of the three most important NDs, that is, attention-deficit/hyperactivity disorder, autism spectrum disorder (ASD), and intellectual disability (ID). METHODS: This consensus paper was commissioned by the ICCS. A selective, nonsystematic review was performed. Guidelines, reviews, and selected studies were included. The recommendations are consensus-based. RESULTS: ADHD is the most common ND with special relevance in clinical practice. ASD and ID are less common, but more severe disorders than ADHD. Basic principles of the assessment and treatment of NDs are provided. Incontinence is common among patients with NDs. Specific modifications and practical approaches in the treatment of incontinence in children with NDs are outlined. CONCLUSIONS: Incontinence in children and adolescents with NDs is common. Effective treatment of incontinence should be adapted and modified to the specific needs of patients with NDs. A multiprofessional approach is recommended.

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