1. Ayaz A, Gezdirici A, Yilmaz Gulec E, Ozalp O, Koseoglu AH, Dogru Z, Yalcintepe S. Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers. Medeni Med J;2022 (Jun 23);37(2):180-193.

OBJECTIVE: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some potential candidate genes for autism. METHODS: Microarray analysis records between January 2016 and December 2017 from two Genetic Diagnostic Centers in Turkey, Kanuni Sultan Suleyman and Adana Numune Training and Research Hospital, were compiled. Detected copy number variations (CNVs) were classified as benign, likely benign, variants of uncertain significance (VUS), likely pathogenic, and pathogenic according to American College of Medical Genetics and Genomics guidelines. The clinical findings of the some patients and the literature data were compared. RESULTS: In 109 (24.5%) of 445 patients, a total of 163 CNVs with reporting criterion feature were detected. Sixty-nine (42%) and 8 (5%) of these were evaluated as pathogenic and likely pathogenic, respectively. Fifteen (9%) CNVs were also evaluated as VUS. Pathogenic or likely pathogenic CNVs were detected in 61 (13.6%) of 445 patients. CONCLUSIONS: We found that the probability of elucidating the etiology of microarray method in autism spectrum disorder, intellectual disability, and multiple congenital anomalies is 13.6% with a percentage similar to the literature. We suggest that the MYT1L, PXDN, TPO, and AUTS2 genes are all strong candidate genes for autism spectrum disorders. We detailed the clinical findings of the cases and reported that some CNV regions in the genome may be associated with autism.

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2. Dai Y, Liu Y, Zhang L, Ren T, Wang H, Yu J, Liu X, Chen Z, Deng L, Tao M, Tan H, Huang CC, Zhang J, Luo Q, Feng J, Cao M, Li F. Shanghai Autism Early Development: An Integrative Chinese ASD Cohort. Neurosci Bull;2022 (Jun 23)

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3. Fiori S, Scaramuzzo RT, Moretti E, Amador C, Controzzi T, Martinelli A, Filippi L, Guzzetta A, Gargagni L. LUNCH-Lung Ultrasound for early detection of silent and apparent aspiratioN in infants and young CHildren with cerebral palsy and other developmental disabilities: study protocol of a randomized controlled trial. BMC Pediatr;2022 (Jun 23);22(1):360.

BACKGROUND: Children with neurological impairment may have dysphagia and/or gastro-esophageal reflux disease (GERD), which predispose to complications affecting the airways, increasing risk for aspiration-induced acute and chronic lung disease, or secondarily malnutrition, further neurodevelopmental disturbances, stressful interactions with their caregivers and chronic pain. Only multidisciplinary clinical feeding evaluation and empirical trials are applied to provide support to the management of feeding difficulties related to dysphagia or GERD, but no standardized feeding or behavioral measure exists at any age to assess aspiration risk and support the indication to perform a videofluoroscopic swallowing study (VFSS) or a fibre-optic endoscopic examination of swallowing (FEES), in particular in newborns and infants with neurological impairments. Lung ultrasound (LUS) has been proposed as a non-invasive, radiation-free tool for the diagnosis of pulmonary conditions in infants, with high sensitivity and specificity. METHODS: A RCT will be conducted in infants aged between 0 and 6 years having, or being at risk for, cerebral palsy, or other neurodevelopmental disease that determines abnormal muscular tone or motor developmental delay assessed by a quantitative scale for infants or if there is the suspicion of GERD or dysphagia based on clinical symptoms. Infants will be allocated in one of 2 groups: 1) LUS-monitored management (LUS-m); 2) Standard care management (SC-m) and after baseline assessment (T0), both groups will undergo an experimental 6-months follow-up. In the first 3 months, infants will be evaluated a minimum of 1 time per month, in-hospital, for a total of 3 LUS-monitored meal evaluations. Primary and secondary endpoint measures will be collected at 3 and 6 months. DISCUSSION: This paper describes the study protocol consisting of a RCT with two main objectives: (1) to evaluate the benefits of the use of LUS for monitoring silent and apparent aspiration in the management of dysphagia and its impact on pulmonary illness and growth and (2) to investigate the impact of the LUS management on blood sample and bone metabolism, pain and interaction with caregivers. TRIAL REGISTRATION: Trial registration date 02/05/2020; ClinicalTrials.gov Identifier: NCT04253951 .

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4. Hickman AR, Selee B, Pauly R, Husain B, Hang Y, Feltus FA. Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study. J Autism Dev Disord;2022 (Jun 23)

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control. Thirty significant DNA variants associated with 174 tissue-specific eQTLs from ASD individuals in the SPARK project were identified. Several significant variants fell within brain-specific regulatory regions or had been associated with a significant change in gene expression in the brain. These eQTLs are a new class of biomarkers that could control the myriad of brain and non-brain phenotypic traits seen in ASD-affected individuals.

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5. Li C, Haegele JA, Sun F, Alves MLT, Ang SHC, Lee J, Ng K, Dos Santos Alves I, Healy S, Huang WY, Rintala P, Tan JSY, Wu Y, Yang H, Kärnä E, Maeng H, Schliemann AL, Ding D. Meeting the 24-h movement guidelines and health-related outcomes among youth with autism spectrum disorder: a seven-country observational study. Child Adolesc Psychiatry Ment Health;2022 (Jun 23);16(1):50.

BACKGROUND: Meeting daily guidelines for physical activity, screen time, and sleep duration is associated with a host of health indicators for youth. In this cross-sectional observational study, we investigated the associations between adherence to the movement guidelines and health-related outcomes among youth with autism spectrum disorder (ASD). METHODS: Parents of youth with ASD (10-17 years) from seven countries and regions were invited to provide online proxy-reports for child’s movement behaviors (i.e., physical activity, sleep and screen time), and health-related outcomes (i.e., body mass index [BMI], general health, and quality of life). A series of multiple linear regression analyses were used to examine the associations between meeting movement guidelines and health-related outcomes, adjusted for covariates. RESULTS: The final sample consisted of 1165 youth with ASD. Compared with youth meeting all three guidelines, a higher BMI z-score was observed in those who met no guidelines (B = 0.62, P = 0.04), « sedentary time only » (B = 0.60, P = 0.047), and « physical activity plus sleep only » (B = 0.85, P = 0.04). Compared with meeting all three guidelines, meeting no guidelines was associated with poorer general health (B = - 0.46, P = 0.02). Further, compared with youth meeting all three guidelines, a lower quality of life score was observed in those who met no guidelines (B = - 0.47, P = 0.02) and « physical activity only » (B = - 0.62, P = 0.03). Lastly, there were dose-response associations between the number of guidelines met and all three health-related outcomes (all P(trend) < 0.05). CONCLUSIONS: In conclusion, meeting more 24-h movement guidelines was generally associated with more favorable health-related outcomes in youth with ASD. The low level of adherence to all three guidelines (2.0%) suggests the urgent need to promote the adoption of all the guidelines in this group.

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6. Nimbley E, Golds L, Sharpe H, Gillespie-Smith K, Duffy F. Sensory processing and eating behaviours in autism: A systematic review. Eur Eat Disord Rev;2022 (Jun 23)

OBJECTIVES: The aim of this study was to assess the relationship between sensory processing and a broad range of eating behaviours across the lifespan. METHODS: Five electronic databases of published and unpublished quantitative studies were systematically searched, evaluated for risk of bias and synthesised according to identified eating outcomes. RESULTS: Across 25 studies, there was consistent evidence of a relationship between sensory processing and a range of eating behaviours. There was early evidence for the particular role of taste/smell sensitivities, as well as hypersensitivities, although future research is needed looking at different sensory patterns and modalities. There was also tentative evidence to suggest this relationship extends across development. DISCUSSION: Study findings are discussed in relation to implications for sensory-based eating and feeding interventions and the development of eating disorders. Methodological and conceptual limitations are discussed and suggestions for future research are made to address these limitations. A broader investigation of multi-sensory issues and clearly defined eating behaviours, including disordered eating in clinically diagnosed samples, will allow for a more comprehensive and robust understanding of the relationship between sensory processing and eating behaviours in autism.

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7. Oti-Boadi M, Osei-Tutu A, Mate-Kole CC. Challenges and support needs of parents of children with developmental disabilities (DD) in Accra, Ghana. Res Dev Disabil;2022 (Jun 23);128:104274.

BACKGROUND: Parents of children with developmental disabilities (DD) have diverse challenges and needs. If met, these parents are able to provide adequate care for their children. Unfulfilled needs like information about their child’s diagnosis, counselling, and poor access to informal and formal supports increase parental stress and hinder their potential to provide optimal care for their children and themselves. AIMS: This study explores the unique challenges and needs of parents caring for children with DD in the Accra metropolis. This is the first study exploring the needs of parents in a Lower-middle income (LMIC) country like Ghana. METHODS AND PROCEDURES: A qualitative research design was adopted for this study. Data was collected using semi-structured interviews from 9 parents of children with DD. RESULTS: Findings from thematic analysis revealed five themes including; Emotional needs; Informational needs; Financial needs; Informal Support, and Formalized Support. Parents indicated their great need for information on their children’s condition, support from family, religious groups, and other formalized institutions and how to provide better care. CONCLUSIONS AND IMPLICATIONS: Parents have several expectations and needs which must be addressed. Findings have the potential of influencing the design and development of appropriate interventions to meet the needs and improve the quality of life of parents of children with DD in the Ghanaian context.

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8. Wehman P, Schall C, Avellone L, McDonough J, Whittenburg H, Dubois T, Broda M. Effects of a 9-Month Military-Base Internship on the Competitive Integrated Employment of Military Dependent and Connected Youth with ASD. J Autism Dev Disord;2022 (Jun 23):1-17.

This waitlist-controlled cluster randomized clinical trial presents the results of PS + ASD for military dependent and connected youth with ASD. Following earlier findings regarding PS + ASD, this study expands upon that previous work by including a new population, military dependent and connected transition aged youth with ASD. Findings indicate that military dependent and connected youth who participated in PS + ASD gained competitive integrated employment at 60% despite the impact of the COVID-19 pandemic and economic downturn. In addition, these youth worked a mean of 24.42 h weekly and earned an average hourly wage of $9.38 at one year post baseline while the waitlist control group participants did not gain CIE. In addition, by 18 months, 58.3% of participants gained positions in federal employment. Implications of the study are discussed.

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9. Wong OWH, Lam AMW, Or BPN, Mo FYM, Shea CKS, Lai KYC, Ma SL, Hung SF, Chan S, Kwong TNY, Wong S, Leung PWL. Disentangling the relationship of gut microbiota, functional gastrointestinal disorders and autism: a case-control study on prepubertal Chinese boys. Sci Rep;2022 (Jun 23);12(1):10659.

Emerging evidence of an altered gut microbiome in autism spectrum disorder (ASD) suggests a pathomechanism through the gut-brain axis despite the inconsistent microbiome profile reported across studies. One of the knowledge gaps in the existing ASD microbiota studies is the lack of systematic exploration of the role of comorbid functional gastrointestinal disorder (FGID) in the association of ASD and altered gut microbiome. Consequently, 92 ASD and 112 age-matched typically developing (TD) boys were profiled on general psychopathology, FGID status by Rome IV classification, and gut microbiota using 16S ribosomal RNA amplicon sequencing at the V4 hypervariable region. Compared to TD, a significant decrease in the within-sample abundance of taxa was observed in ASD, regardless of FGID status. The microbiota of ASD FGID+ and ASD FGID- clustered apart from the TD groups. The microbiota of ASD FGID+ also showed qualitative differences from that of ASD FGID- and had the highest-level Firmicutes: Bacteroidetes ratio, which was paralleled by elevated levels of anxiety and overall psychopathology. The altered gastrointestinal microbiota composition in ASD appeared to be independent of comorbid FGID. Further studies should address how FGID may mediate neuropsychiatric symptoms in ASD through inflammation along the microbiota-gut-brain axis.

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10. Wu JJ, Liu ZP, Xu CY, Zhang XL, Liu XW, Wang JY, Guo YF. Endoscopic Management of Recurrent Maxillary Sinus Ameloblastoma in a Child With Autism Spectrum Disorder: A Case Report. Ear Nose Throat J;2022 (Jun 23):1455613221106218.

Ameloblastomas are slow-growing, aggressive odontogenic epithelial tumors that originate from the jawbone. One of the most easily relapsing maxillofacial tumors, ameloblastomas mainly occur in the mandibular molar area and ascending branch, although they can occasionally occur in the nasal cavity and paranasal sinuses. A 14-year-old child with autism spectrum disorder underwent sinus computed tomography (CT) under anesthesia. A swollen tumor had grown in the left maxillary sinus, and the bone of the maxillary sinus was damaged. Nine months after the first operation, recurrence was observed in the left maxillary sinus. The pathological diagnosis was ameloblastoma. Due to the child’s inability to communicate and cooperate with the treatment normally, he underwent endoscopic surgery again combined with low-temperature plasma treatment. No tumor recurrence was found on reexamination 6 months after surgery.

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