1. Hand BN, Miller JS, Guthrie W, Friedlaender EY. Healthcare utilization among children with early autism diagnoses, children with other developmental delays and a comparison group. Journal of comparative effectiveness research. 2021; 10(11): 917-26.

Aim: To describe healthcare utilization patterns among children with autism (n = 1821), and compare these patterns to children with other developmental delays (DD; n = 12,336) and a population comparison (PC; n = 18,210) cohort. Materials & methods: Retrospective study of administrative billing data. Results: Children with autism had roughly six-times more annual outpatient visits as PC children and twice as many as children with DD. Children with autism were more likely than PC children to use nearly all services, but comparisons between the autism and DD cohorts were mixed. Children with autism were more likely to have psychiatry/psychology visits, ‘other’ specialty care visits and psychotropic prescriptions, but less likely to have pediatric specialty care visits, immunizations and some prescriptions. Conclusion: Findings reveal opportunities to streamline, coordinate or improve care for young children with autism, particularly for outpatient services, and to give caregivers appropriate anticipatory guidance about what to expect after an autism diagnosis. Lay abstract We compared how young children with autism use healthcare services versus children with other developmental delays (DDs) and a population comparison (PC) group. We examined medical billing records of children with private health insurance from across the USA. Children with autism were more likely than PC children to use nearly all healthcare services. Children with autism had about six-times as many annual outpatient visits as PC children and twice as many as children with DD. Children with autism were more likely to use some services and less likely to use other services compared with children with DD. For example, children with autism were more likely to have mental health visits and medications, but less likely to have pediatric specialty care visits or allergy medications. Outpatient visits and other healthcare services may need to be streamlined, coordinated or improved for young children with autism. eng.

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2. Kamita MK, Silva LAF, Matas CG. Cortical auditory evoked potentials in autism spectrum disorder: a systematic review. CoDAS. 2021; 33(2): e20190207.

PURPOSE: To identify and analyze what are the characteristic findings of Cortical Auditory Evoked Potentials (CAEP) in children and / or adolescents with Autism Spectrum Disorder (ASD) compared to typical development, through a systematic literature review. RESEARCH STRATEGIES: Based on the formulation of a research question, a bibliographic survey was carried out in seven databases (Web of Science, Pubmed, Cochrane Library, Lilacs, Scielo, Science Direct, and Google Sholar), with the following descriptors: autism spectrum disorder (transtorno do espectro autista), autistic disorder (transtorno autístico), evoked potentials, auditory (potenciais evocados auditivos), event related potentials, P300 (potencial evocado P300) e child (criança). This review was registered in Prospero, under number 118751. SELECTION CRITERIA: Were selected articles published, without language limitation, between 2007 and 2019. DATA ANALYSIS: The characteristics of the latency and amplitude aspects of the P1, N1, P2, N2 and P3 components present in the CAEP. RESULTS: 193 studies were located; however, 15 original articles were included the inclusion criteria for this study. Although it has not been possible to identify any pattern of response for the P1, N1, P2 and N2 components, the results of the selected studies have demonstrated that individuals with ASD may present a decrease in amplitude and increase in latency of the P3 component. CONCLUSION: Individuals with ASD may present different responses to the components of the CAEP, and the decrease of the amplitude and increase of the latency of the P3 component were the most common characteristics.

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3. Lindley LC, Svynarenko R, Beebe LH. Mental health and developmental disabilities in US children admitted in hospice care. International journal of palliative nursing. 2021; 27(3): 124-30.

BACKGROUND: Of the 40 000 children who die annually in the US, thousands are admitted to hospice care. Little is known about the mental health and developmental disabilities of these children. AIMS: To describe the mental health and developmental disabilities of children who are admitted to hospice care and compare this across age groups. METHODS: The 2011 to 2013 US Medicaid files were used. The sample included 6195 children with a diagnosis of a mental health and/or developmental disability. Comparisons were calculated using the Pearson chi-square test. RESULTS: Mental health conditions, including anxiety (31.0%), depression (33.1%), behavioural disorders (33.9%) and affective disorders (34.8%), were highest among children aged between 15 and 20 years. Developmental delays were common in children under a year, while intellectual disabilities were highest in the 15 to 20 years age group. CONCLUSIONS: Nurses have an important role in understanding the mental health and developmental disabilities of children admitted to hospice care.

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4. Manaspon C, Boonsimma P, Phokaew C, Theerapanon T, Sriwattanapong K, Porntaveetus T, Shotelersuk V. Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10. American journal of medical genetics Part A. 2021; 185(10): 3068-73.

PYCR2 pathogenic variants lead to an autosomal recessive hypomyelinating leukodystrophy 10 (HLD10), characterized by global developmental delay, microcephaly, facial dysmorphism, movement disorder, and hypomyelination. This study identified the first two unrelated Thai patients with HLD10. Patient 1 harbored the novel compound heterozygous variants, c.257T>G (p.Val86Gly) and c.400G>A (p.Val134Met), whereas patient 2 possessed the homozygous variant, c.400G>A (p.Val134Met), in PYCR2. Haplotype analysis revealed that the two families’ members shared a 2.3 Mb region covering the c.400G>A variant, indicating a common ancestry. The variant was estimated to age 1450 years ago. Since the c.400G>A was detected in three out of four mutant alleles and with a common ancestry, this variant might be common in Thai patients. We also reviewed the phenotype and genotype of all 35 previously reported PYCR2 patients and found that majorities of cases were homozygous with a consanguineous family history, except patient 1 and another reported case who were compound heterozygous. All patients had microcephaly and developmental delay. Hypotonia and peripheral spasticity were common. Hypomyelination or delayed myelination was a typical radiographic feature. Here, we report the first two Thai patients with HLD10 with the novel PYCR2 variants expanding the genotypic spectrum and suggest that the c.400G>A might be a common mutation in Thai patients.

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5. Pattison E, Ure A, Mittiga SR, Williams K, Freeman NC. The Feedback Session of an Autism Assessment: A Scoping Review of Clinical Practice Guideline Recommendations. Journal of autism and developmental disorders. 2022; 52(4): 1821-40.

This review aimed to assess the quality and content of recommendations for delivering an autism diagnosis, published internationally within clinical practice guidelines. Seventeen relevant guidelines were identified. When methodological information was provided, recommendations for feedback were predominantly formed through consensus. Recommendations consistently included who should attend feedback, the timing and mode of delivery, the clinician’s manner, and what should be discussed and/or included in an accompanying report. Specific recommendations were not consistent however, and a number of gaps were identified, such as the inclusion of educators and educational specific recommendations. Although individual variation is necessary for autism diagnosis disclosure, agreement on minimum standards of practice is warranted. Further investigation is required to establish best practice.

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6. Song XK, Lee C, So WC. Examining Phenotypical Heterogeneity in Language Abilities in Chinese-Speaking Children with Autism: A Naturalistic Sampling Approach. Journal of autism and developmental disorders. 2022; 52(5): 1908-19.

Phenotypical heterogeneity in language abilities is a hallmark of autism but remains poorly understood. The present study collected naturalistic language samples from parent-child interactions. We quantified verbal abilities (mean length of utterance, tokens, types) of 50 Chinese-speaking children (M = 5; 6) and stratified subgroups based on their autism traits, IQ, and language abilities. Using hierarchical cluster analysis, four groups were identified. Group 1, the least affected group, had mild autism, the highest IQ, and the strongest verbal abilities. Group 2, the severely affected group, had the lowest IQ, most severe autism symptoms, and weakest verbal abilities. Group 3 and Group 4 displayed average levels of verbal abilities and IQ. These findings may characterize the heterogeneous profiles of verbal abilities in Chinese-speaking children.

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7. Zimmerman AW, Singh K, Connors SL, Liu H, Panjwani AA, Lee LC, Diggins E, Foley A, Melnyk S, Singh IN, James SJ, Frye RE, Fahey JW. Randomized controlled trial of sulforaphane and metabolite discovery in children with Autism Spectrum Disorder. Molecular autism. 2021; 12(1): 38.

BACKGROUND: Sulforaphane (SF), an isothiocyanate in broccoli, has potential benefits relevant to autism spectrum disorder (ASD) through its effects on several metabolic and immunologic pathways. Previous clinical trials of oral SF demonstrated positive clinical effects on behavior in young men and changes in urinary metabolomics in children with ASD. METHODS: We conducted a 15-week randomized parallel double-blind placebo-controlled clinical trial with 15-week open-label treatment and 6-week no-treatment extensions in 57 children, ages 3-12 years, with ASD over 36 weeks. Twenty-eight were assigned SF and 29 received placebo (PL). Clinical effects, safety and tolerability of SF were measured as were biomarkers to elucidate mechanisms of action of SF in ASD. RESULTS: Data from 22 children taking SF and 23 on PL were analyzed. Treatment effects on the primary outcome measure, the Ohio Autism Clinical Impressions Scale (OACIS), in the general level of autism were not significant between SF and PL groups at 7 and 15 weeks. The effect sizes on the OACIS were non-statistically significant but positive, suggesting a possible trend toward greater improvement in those on treatment with SF (Cohen’s d 0.21; 95% CI - 0.46, 0.88 and 0.10; 95% CI - 0.52, 0.72, respectively). Both groups improved in all subscales when on SF during the open-label phase. Caregiver ratings on secondary outcome measures improved significantly on the Aberrant Behavior Checklist (ABC) at 15 weeks (Cohen’s d - 0.96; 95% CI - 1.73, - 0.15), but not on the Social Responsiveness Scale-2 (SRS-2). Ratings on the ABC and SRS-2 improved with a non-randomized analysis of the length of exposure to SF, compared to the pre-treatment baseline (p < 0.001). There were significant changes with SF compared to PL in biomarkers of glutathione redox status, mitochondrial respiration, inflammatory markers and heat shock proteins. Clinical laboratory studies confirmed product safety. SF was very well tolerated and side effects of treatment, none serious, included rare insomnia, irritability and intolerance of the taste and smell. LIMITATIONS: The sample size was limited to 45 children with ASD and we did not impute missing data. We were unable to document significant changes in clinical assessments during clinical visits in those taking SF compared to PL. The clinical results were confounded by placebo effects during the open-label phase. CONCLUSIONS: SF led to small yet non-statistically significant changes in the total and all subscale scores of the primary outcome measure, while for secondary outcome measures, caregivers' assessments of children taking SF showed statistically significant improvements compared to those taking PL on the ABC but not the SRS-2. Clinical effects of SF were less notable in children compared to our previous trial of a SF-rich preparation in young men with ASD. Several of the effects of SF on biomarkers correlated to clinical improvements. SF was very well tolerated and safe and effective based on our secondary clinical measures. TRIAL REGISTRATION: This study was prospectively registered at clinicaltrials.gov (NCT02561481) on September 28, 2015. Funding was provided by the U.S. Department of Defense.

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