1. Aiello S, Vagni D, Cerasa A, Leonardi E, Carrozza C, Famà F, Campisi A, Marino F, Siracusano R, Alquino MA, Mainiero F, Germano E, Tartarisco G, Pioggia G, Gagliano A, Ruta L. Autistic Traits and Empathy in Children With Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder and Co-occurring Attention Deficit Hyperactivity Disorder/Autism Spectrum Disorder. Frontiers in neuroscience. 2021; 15: 734177.

Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD) are two of the most represented neurodevelopmental conditions in childhood. The diagnostic shift introduced by the DSM-5, allowing a combined diagnosis of ADHD and ASD, poses different clinical challenges related to diagnostic overshadowing, accuracy of clinical judgment and potential delay in an ASD diagnosis in children presenting with ADHD. Here we tried to disentangle the clinical phenotype and specificity of the two co-occurring conditions in relation to autism traits and empathy, by comparing children with ASD with and without comorbid ADHD with children presenting ADHD only and children with typical development. The child versions of the Autism Quotient (C-AQ) and Empathy Quotient (C-EQ) were administered to a total sample of 198 male children between 6 and 14 years old with age appropriate language skills and normal intelligence. Univariate analysis demonstrated no significant differences in the C-AQ total and subscale scores as well as the C-EQ between children with ASD and children with ASD + ADHD, while children with ADHD alone presented an intermediate phenotype between ASD and TD. Furthermore, a receiver operating characteristic (ROC) analysis was applied to discriminate among the different phenotypes. We found that the C-AQ and C-EQ were accurate at distinguishing with satisfactory reliability between: (a) ASD vs. non- ASD (N-ASD) groups comprising both ADHD and TD children (Area Under the Curve AUC 88% for C-AQ and 81% for C-EQ); (b) ASD and TD (AUC 92% for C-AQ and 95% for C-EQ); (c) ASD and ADHD (AUC 80% for C-AQ and 68% for C-EQ). Our data confirm the reliability of the C-AQ and C-EQ as behavioral markers to differentiate ASD (regardless of comorbid ADHD) from an ADHD condition and TD. Interestingly, in our sample an ADHD condition does not increase the severity of the clinical phenotype in terms of autism traits distribution and empathy, suggesting that the psychological measures detected by the two quantitative instruments are independent of ADHD traits. This evidence will contribute to the translational efforts in developing better tailored treatments and preventive strategies.

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2. Budimirovic DB, Protic DD, Delahunty CM, Andrews HF, Choo TH, Xu Q, Berry-Kravis E, Kaufmann WE. Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort. American journal of medical genetics Part A. 2022; 188(4): 1029-39.

Fragile X syndrome (FXS), the leading cause of inherited intellectual disability and autism spectrum disorder, is associated with multiple neurobehavioral abnormalities including sleep difficulties. Nonetheless, frequency, severity, and consequences of sleep problems are still unclear. The Fragile X Online Registry with Accessible Research Database (FORWARD-version-3), including Clinician Report and Parent Report forms, was analyzed for frequency, severity, relationship with behavioral problems, and impact of sleep difficulties in a mainly pediatric cohort. A focused evaluation of sleep apnea was also conducted. Six surveyed sleep difficulties were moderately frequent (~23%-46%), relatively mild, affected predominantly younger males, and considered a problem for 7%-20% of families. Snoring was more prevalent in older individuals. All sleep difficulties were associated with irritability/aggression and most also to hyperactivity. Only severe snoring was correlated with sleep apnea (loud snoring: 30%; sleep apnea: 2%-3%). Sleep difficulties are prevalent in children with FXS and, although they tend to be mild, they are associated with behavioral problems and negative impact to families. Because of its cross-sectional nature, clinic-origin, use of ad hoc data collection forms, and lack of treatment data, the present study should be considered foundational for future research aiming at better recognition and management of sleep problems in FXS.

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3. Columna L, Prieto LA, Beach P, Russo N, Foley JT. A Randomized Feasibility Trial of a Fundamental Motor Skill Parent-Mediated Intervention for Children with Autism Spectrum Disorders. International journal of environmental research and public health. 2021; 18(23).

The purpose of this pilot study was to examine the feasibility of a fundamental motor skills (FMS) intervention with two groups on the acquisition of FMS of children with autism spectrum disorders (ASD). We randomly assigned families (n = 15) of children with ASD aged 4-11 years into two groups (a workshop or a home-based group) focused on FMS development. Both groups participated in a 10-week intervention and were given the same instructional manual and adapted physical activity equipment. The workshop group also attended four in-person workshops targeting the needs of children with ASD and their parents. Children were tested on their FMS using the third edition of the Test of Gross Motor Development at the start and end of the intervention and then three months following the intervention. The recruitment rate was 50%, and the retention rate was 80% for all participants. The intervention for groups was safe and accepted by the participants as evaluated by post-program interviews. The outcomes of this pilot study suggest that parents can facilitate the acquisition of FMS of their children with ASD. Although these results are positive, there is a need to further identify effective interventions for FMS development in children with ASD.

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4. Dembo RS, Huntington N, Mitra M, Rudolph AE, Lachman ME, Mailick MR. Social network typology and health among parents of children with developmental disabilities: Results from a national study of midlife adults. Social science & medicine (1982). 2022; 292: 114623.

OBJECTIVE: There is increasing interest in the role of contextual factors in promoting well-being among parents of children with developmental disabilities. This study aimed to examine whether social network types moderate the impacts of having a child with a developmental disability on parents’ health. METHODS: Using cross-sectional data from the Midlife in the United States survey (MIDUS 2 and Refresher cohorts), we analyzed a sample of 363 parents of children with developmental disabilities and 4,919 parents of children without developmental disabilities. K-means cluster analysis was implemented to identify a social network typology. Modified Poisson and negative binomial regression models estimated the effect of having a child with a developmental disability and the typology on parents’ physical health (self-rated health, number of chronic conditions) and mental health (self-rated mental health, major depression). RESULTS: The cluster analysis revealed two social network types. Parents of children with developmental disabilities were more likely to have « restricted/unsupported » networks, whereas parents in the comparison group were more likely to have « diverse/supported » networks. Social support was more important for differentiating the network types of parents of children with developmental disabilities, while social integration was more salient for the comparison group. Parents of children with developmental disabilities fared worse on all outcomes relative to parents of children without disabilities. However, the typology had a compensatory psychological effect; the diverse/supported network type conferred greater mental health benefits to parents of children with developmental disabilities than to those in the comparison group. The diverse/supported network type was also associated with better physical health, but the associations did not differ between the two parent groups. CONCLUSIONS: The results of this study emphasize the importance of social determinants of well-being for those with exceptional parenting responsibilities. Strengthening social networks may have a particularly positive impact on such parents’ mental health.

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5. Elias R, Lord C. Diagnostic stability in individuals with autism spectrum disorder: insights from a longitudinal follow-up study. Journal of child psychology and psychiatry, and allied disciplines. 2021.

BACKGROUND: This longitudinal study of autism symptom trajectories provides unique information that can characterize autism features and diagnostic patterns from childhood to adulthood. METHODS: Participants (n = 155) were part of a longitudinal cohort referred for possible autism where in-person assessments were completed at ages 2, 3, 5, 9, 19, and 25. Assessors were blinded to previous diagnoses. Based on adult best estimate diagnoses, participants were categorized into one of the four groups: Retained ASD, Lost ASD, Never Had ASD, or Gained ASD Diagnosis. To examine developmental changes in autism symptoms, mixed models indicated the rate of change in ADOS CSS and ADI-R scores in each diagnostic group. RESULTS: A subset of participants with VIQ> and <70 were assigned a diagnosis in adulthood that differed from diagnoses earlier in development. Across cognitive levels, the majority of novel diagnoses emerged in adulthood. For those with VIQ > 70, improvements in ADOS CSS over time for the Lost Diagnosis group and worsening in CSS in the Gained Diagnosis group were gradual. Individuals with VIQ > 70 who lost a diagnosis even in adulthood could be distinguished on CSS and ADI-R scores by age 5 from those who retained their ASD diagnosis. Although most participants with VIQ < 70 saw decreases in autistic symptoms as a whole, changes in autism diagnoses were confounded by disentangling profound intellectual disability as a differential diagnosis or co-occurrence. Only the Never Had Diagnosis group revealed significant changes in ADOS scores over time, with autism symptoms increasing. CONCLUSIONS: Associated with gradual changes in core features of autism beginning in childhood, diagnoses of autism can shift across development.

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6. Erwin J, Paisi M, Witton R, Neill S, Burns L, Vassallo I, Nelder A, Facenfield J, Devalia U, Vassallo T. Factors Influencing Oral Health Behaviours, Access and Provision of Dental Care for Autistic Children and Adolescents in Countries with a Very High Human Development Index: Protocol for a Mixed Methods Systematic Review. International journal of environmental research and public health. 2021; 18(23).

Autistic children and adolescents are at high risk of dental disease and experience oral health inequalities. They consistently show high levels of unmet needs in relation to their oral health and access to dental care. There are no systematic reviews that bring together the evidence on the factors that influence oral hygiene behaviours, and access to and provision of dental care for autistic children and adolescents. A systematic search will be carried out in eight international databases and in grey literature of qualitative, quantitative and mixed method research studies from countries with a High Development Index which relate to oral health behaviours, and access to and provision of dental care. Only studies where participants are autistic children and adolescents aged 19 years or under, parents/guardians/caregivers, support staff, or oral health care providers will be included. Quantitative and qualitative data will be synthesized together through data transformation using a convergent integrated approach. Thematic synthesis will be used to carry out an inductive analysis of the data. The findings from the systematic review which this protocol generates will be used in the development of an appropriate local clinic care pathway for autistic children/adolescents and to inform national policies and practices. Prospero registration: CRD 42021248764.

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7. Espinoza K, Hayashi J, Shimada Y, Tagami J, Sadr A. Optical Coherence Tomography for Patients with Developmental Disabilities: A Preliminary Study. Sensors (Basel, Switzerland). 2021; 21(23).

Dental radiographs are essential for diagnosis and treatment planning, but are sometimes difficult to acquire for patients with developmental disabilities (PDD). Optical Coherence Tomography (OCT) is a non-ionizing imaging modality that has the potential application as an alternative to dental radiographs for PDD. This study aimed to determine the feasibility of intraoral OCT imaging for PDD. Ten participants were recruited in the Dental Education in the Care of Persons with Disabilities (DECOD) Clinic to explore the utility of dental OCT. The prototype system (Yoshida Dental) creates in-depth and three-dimensional images of teeth. The participants indicated their degree of pain during imaging on the Wong-Baker FACES Pain Rating Scale, and the degree of discomfort after imaging on a visual analog scale. OCT can be used for patients with developmental disabilities with minimal levels of pain and discomfort, without ionizing radiation.

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8. Hu Y, Xiong Q, Wang Q, Song C, Wang D, Lu H, Shi W, Han Y, Liu J, Li X, Yi L. Early development of social attention in toddlers at high familial risk for autism spectrum disorder. Infant behavior & development. 2022; 66: 101662.

The present study explored the early development of social attention of toddlers at high familial risk (HR) for autism spectrum disorder (ASD). Eighteen HR toddlers and twenty-two toddlers at low familial risk for ASD (LR) between 11 and 24 months were asked to watch paired social and non-social videos. We found that: (1) the initial social preference in HR group decreased with age, but not in LR group; (2) both groups showed significant social habituation across trials, but HR group habituated slightly slower as age increased. These findings suggest that atypical social attention could be an early characteristic of toddlers at high familial risk for ASD.

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9. Li N, Chen H, Cheng Y, Xu F, Ruan G, Ying S, Tang W, Chen L, Chen M, Lv L, Ping Y, Chen D, Wei Y. Corrigendum: Fecal Microbiota Transplantation Relieves Gastrointestinal and Autism Symptoms by Improving the Gut Microbiota in an Open-Label Study. Frontiers in cellular and infection microbiology. 2021; 11: 801376.

[This corrects the article DOI: 10.3389/fcimb.2021.759435.].

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10. Ludwig NN, Jashar DT, Sheperd K, Pineda JL, Previ D, Reesman J, Holingue C, Gerner GJ. Considerations for the identification of autism spectrum disorder in children with vision or hearing impairment: A critical review of the literature and recommendations for practice. The Clinical neuropsychologist. 2021: 1-20.

OBJECTIVE: There is higher risk for autism spectrum disorder (ASD) across many pediatric neurological conditions characterized by vision impairment or hearing loss. Early and accurate identification of ASD is imperative in promoting access to appropriate and early evidenced-based intervention; however, differential diagnosis can be particularly challenging in children with sensory impairment given the heterogeneity of ASD combined with the impact of vision impairment or hearing loss/deafness on development and behavior. A neuropsychologist’s unique expertise and appreciation of the interplay between sensory and behavioral manifestations can be valuable for making an early and accurate ASD diagnosis in children who are blind/visually impaired or deaf/hard-of-hearing. This article highlights clinical considerations when identifying ASD within the context of vision impairment or hearing loss/deafness. METHOD: We discuss clinical considerations for the early identification of ASD in children who are blind/visually impaired and deaf/hard-of-hearing. Information presented in the article is based on a critical review of the literature and the expertise of the author group. CONCLUSION: Ongoing development of clinical expertise and evidence-based assessment methods are important when informing the early differential diagnosis of ASD in individuals with sensory impairment. Accurate identification is also vital for the development of targeted interventions across the lifespan.

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11. Munn EE, Ruby L, Pangelinan MM. Improvements in Swim Skills in Children with Autism Spectrum Disorder Following a 5-Day Adapted Learn-To-Swim Program (iCan Swim). Journal of clinical medicine. 2021; 10(23).

Drowning is one of the leading causes of death in children and teenagers. Individuals with autism spectrum disorder (ASD) are at increased risk for drowning. Improvements in swim skills have been observed in children with ASD participating in learn-to-swim programs. However, it is unclear if age, co-occurring conditions, and/or the dose of practice influence swim skills in this population. To this end, a secondary data analysis of iCan Swim program data was conducted to determine the efficacy of the 5-day adapted learn-to-swim program for a cohort of children with ASD ages 3-16 years (n = 86). Participant swim level was evaluated at the start and end of the program. Linear mixed-effects regression was used to examine the effects of Time (start/end), Age, Dose of Swim Practice (i.e., total time-time out of the water), and ADHD status on the overall swim level. Participants significantly increased the swim level from the beginning to the end of the program (B = 0.63, 95% CI = 0.52-0.74), and participants with ASD and co-occurring ADHD had greater swim levels regardless of Time than those without ADHD (B = 0.45, 95% CI = 0.05-0.84). Overall, iCan Swim is effective in improving the swim skills of children and teenagers with ASD.

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12. Navas P, Verdugo M, Martínez S, Amor AM, Crespo M, Deliu MM. Impact of COVID-19 on the burden of care of families of people with intellectual and developmental disabilities. Journal of applied research in intellectual disabilities : JARID. 2022; 35(2): 577-86.

AIM: This study analysed the impact that COVID-19 and the response measures implemented by the Spanish Government have had on families of individuals with intellectual and developmental disabilities. METHOD: Data on 323 family members (M = 52.3 years old; SD = 10.5) were collected through an online survey, which was focused on analysing difficulties experienced and service provision during lockdown. RESULTS: Many families (66.3%) have seen their level of stress increased during lockdown because of, among other reasons, a greater burden of care. Difficulties were associated with the closure and changes in disability-related services. Families of people with extensive support needs have generally experienced greater difficulties. CONCLUSION: Support services should have been considered essential services during lockdown. The failure to receive support has resulted in excessive burden on families, who had to assume a multitude of roles to support their family member with intellectual and developmental disability.

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13. Ryabinin AE. Focus on autism and other neurodevelopmental disorders. Genes, brain, and behavior. 2022; 21(1): e12789.

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14. Salcedo-Arellano MJ, Hagerman RJ. Recent research in fragile X-associated tremor/ataxia syndrome. Current opinion in neurobiology. 2022; 72: 155-9.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cytosine-guanine-guanine repeat expansion neurological disease that occurs in a subset of aging carriers of the premutation (55-200 cytosine-guanine-guanine repeats) in the FMR1 gene located on the X chromosome. The clinical core involves intention tremor and gait ataxia. Current research seeks to clarify the pathophysiology and neuropathology of FXTAS, as well as the development of useful biomarkers to track the progression of FXTAS. Efforts to implement quantitative measures of clinical features, such as kinematics and cognitive measures, are of special interest, in addition to characterize the differences in progression in males compared with females and the efficacy of new treatments.

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15. Williams OOF, Coppolino M, Perreault ML. Sex differences in neuronal systems function and behaviour: beyond a single diagnosis in autism spectrum disorders. Translational psychiatry. 2021; 11(1): 625.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that is associated with functional brain alterations that underlie the expression of behaviour. Males are diagnosed up to four times more than females, and sex differences have been identified in memory, cognitive flexibility, verbal fluency, and social communication. Unfortunately, there exists a lack of information on the sex-dependent mechanisms of ASD, as well as biological markers to distinguish sex-specific symptoms in ASD. This can often result in a standardized diagnosis for individuals across the spectrum, despite significant differences in the various ASD subtypes. Alterations in neuronal connectivity and oscillatory activity, such as is observed in ASD, are highly coupled to behavioural states. Yet, despite the well-identified sexual dimorphisms that exist in ASD, these functional patterns have rarely been analyzed in the context of sex differences or symptomology. This review summarizes alterations in neuronal oscillatory function in ASD, discusses the age, region, symptom and sex-specific differences that are currently observed across the spectrum, and potential targets for regulating neuronal oscillatory activity in ASD. The need to identify sex-specific biomarkers, in order to facilitate specific diagnostic criteria and allow for more targeted therapeutic approaches for ASD will also be discussed.

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16. Wu K, Cong Y. Case report : a novel ASXL3 gene variant in a Sudanese boy. BMC pediatrics. 2021; 21(1): 557.

BACKGROUND: Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, moderate to severe intellectual disability, poor or absent speech, feeding difficulties, growth failure, dysmorphic craniofacial features and minor skeletal features. The aim of this study was to investigate the genetic etiology of a Sudanese boy with severe developmental delay, intellectual disability, and craniofacial phenotype using trio-based whole-exome sequencing. To our knowledge, no patients with ASXL3 gene variant c.3043C>T have been reported detailedly in literature. CASE PRESENTATION: The patient (male, 3 years 6 months) was the first born of a healthy non-consanguineous couple originating from Sudan, treated for « psychomotor retardation » for more than 8 months in Yiwu. The patient exhibited severely delayed milestones in physiological and intellectual developmental stages, language impairment, poor eye-contact, lack of subtle motions of fingers, fear of claustrophobic space, hypotonia, clinodactyly, autistic features. Peripheral blood samples were collected from the patient and his parents. Trio-based whole-exome sequencing(Trio-WES) identified a de novo heterozygous ASXL3 gene variant c.3043C>T;p.Q1015X. Sanger sequencing verified variants of this family. CONCLUSION: Trio-WES analysis identified a de novo nonsense variant (c.3043C>T) of ASXL3 gene in a Sudanese boy. To our knowledge, the patient with this variant has not been reported previously in literature. This study presents a new case for ASXL3 gene variants, which expanded the mutational and phenotypic spectrum.

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