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The COVID-19 pandemic has posed unique challenges for families and caregivers, as well as for autism-focused clinicians, who are faced with providing a thorough and accurate evaluation of children's specific needs and diagnoses in the absence of in-person assessment tools. The shift to telehealth assessments has challenged clinicians to reconsider approaches and assumptions that underlie the diagnostic assessment process, and to adopt new ways of individualizing standard assessments according to family and child needs. Mandates for physical distancing have uncovered deficiencies in diagnostic practices for suspected autism and have illuminated biases that have posed obstacles preventing children and families from receiving the services that they truly need. This Commentary outlines several considerations for improving diagnostic practices as we move forward from the current pandemic and continue to strive to build an adaptable, sustainable, equitable, and family-centered system of care. LAY SUMMARY: Physical distancing and the abrupt end to in-person services for many children on the autism spectrum has forced clinicians to examine the existing challenges with autism spectrum disorder (ASD) diagnostic assessment and consider things they want to keep and things that should be changed in the years ahead. New approaches such as telehealth both alleviated and exacerbated existing disparities, and brought into stark focus the importance of equitable and timely access to family-centered care. This commentary suggests ways of improving clinical practices related to ASD assessment to continue along this path.

Protein phosphatase 2 regulatory subunit B56δ related neurodevelopmental disorder (PPP2R5D‐related NDD) is largely caused by de novo heterozygous missense PPP2R5D variants. We report medical characteristics, longitudinal adaptive functioning, and in‐person neurological, motor, cognitive, and electroencephalogram (EEG) activity for PPP2R5D‐related NDD. Forty‐two individuals (median age 6 years, range = 0.8–25.3) with pathogenic/likely pathogenic PPP2R5D variants were assessed, and almost all variants were missense (97.6%) and de novo (85.7%). Common clinical symptoms were developmental delay, hypotonia, macrocephaly, seizures, autism, behavioral challenges, and sleep problems. The mean Gross motor functional measure‐66 was 60.2 ± 17.3% and the mean Revised upper limb module score was 25.9 ± 8.8. The Vineland‐3 adaptive behavior composite score (VABS‐3 ABC) at baseline was low (M = 61.7 ± 16.8). VABS‐3 growth scale value scores increased from baseline in all subdomains (range = 0.6–5.9) after a mean follow‐up of 1.3 ± 0.3 years. EEG beta and gamma power were negatively correlated with VABS‐3 score; p < 0.05. Individuals had a mean Quality‐of‐life inventory‐disability score of 74.7 ± 11.4. Twenty caregivers (80%) had a risk of burnout based on the Caregiver burden inventory. Overall, the most common clinical manifestations of PPP2R5D‐related NDD were impaired cognitive, adaptive function, and motor skills; and EEG activity was associated with adaptive functioning. This clinical characterization describes the natural history in preparation for clinical trials. [ABSTRACT FROM AUTHOR]

Conversations about the past support the development of autobiographical memory. Parents' strategies to elicit child's participation and recall during past event conversations were compared across three school-age diagnostic groups: autism spectrum disorder (ASD, n = 11), developmental language disorders (n = 11) and typically developing (TD, n = 11). We focused on the prevalence of directives versus enrichment of events. Groups did not differ in number of events, length, and total turns. However, parents of children with ASD produced more direct questions, corrections, and unrelated turns than parents of TD children. Results highlight how parents adjusted their conversational style to their child's communication difficulties to maximize interactions and how these strategies may affect the development of personal conversations.

Autism Spectrum Disorders (ASD) are behaviorally defined neurodevelopmental disorders. The best known yet less understood characteristic of autism is its unexplained male preponderance. Using a biosocial perspective, the goal of this article is to draw attention to the role of gender-based socialization practices and behavioral expectations during the clinical evaluation. Together with gender-biased standardized instruments used to support the diagnosis of ASD, these factors may contribute to the higher prevalence of males with ASD. The assumption is that both biological sex and gender identity contribute, in distinct ways, to the male preponderance. While sex is genetically defined, gender is a psycho-social construct expressed through specific behaviors consistent with socio-cultural expectations based on individuals' genetic sex. As such, clinicians are influenced by the expected behaviors based on the prominent gender socialization attribute. Concurrently, most standardized clinical instruments used for the diagnosis of ASD do not include gendered-norms. The first question raised here pertains to the role of a child's biological sex and the effect of hormones, be it protective versus increase vulnerability for ASD. The second question focuses on the function of gendered socialization practices, especially in regard to externalizing and internalizing behaviors and how these practices may bias the diagnosis and thus the sex ratio.

Motor stereotypies are defined as patterned, repetitive, purposeless movements. These stigmatizing motor behaviors represent one manifestation of the third core criterion for an Autistic Disorder (AD) diagnosis, and are becoming viewed as potential early markers of autism. Moreover, motor stereotypies might be a tangible expression of the underlying neurobiology of this neurodevelopmental disorder. In this study, we videoscored stereotypies recorded during semi-structured play sessions from school age children with AD. We examined the effect of severity and persistence over time of stereotypies on brain volumetric changes. Our findings confirmed that the brain volume of school age children with AD is, on average, larger than that of age-matched typically developing children. However, we have failed to detect any sign of volumetric differences in brain regions thought to be particularly linked to the pathophysiology of stereotypies. This negative finding may suggest that, at least with respect to motor stereotypies, functional rather than structural alterations might be the underpinning of these disruptive motor manifestations of autism. (Contains 7 tables.)

This study reports on the relationship between motor stereotypies and impairments in executive functions (EF) in children with Autistic Disorder (AD) and in children with Developmental Language Disorders (DLD). We hypothesized that low EF performance would predict higher frequency and longer durations of stereotypies in the AD group only. Twenty-two children (age range = 7-9 years, 6 months, girls = 5) with AD were recruited from a longitudinal multi-site study and compared to twenty-two non-autistic children with DLD (age range = 7-9 years, 6 months, girls = 5). The two groups were matched on non-verbal IQ and demographic characteristics. Frequency and duration of stereotypies were coded from videotaped semi-structured play sessions. EF measures included the Wisconsin Card Sorting Task (WCST) Categories, Wechsler Intelligence Scale for Children-Revised (WISC-R) Mazes, and Stanford-Binet Fourth Edition (SB-IV) Matrices. The scores for frequency and duration of stereotypies were higher in the AD group. Separate linear regressions revealed that group status, EF, and their interactions predict stereotypies. Specifically, lower EF scores predicted higher frequencies and longer durations of stereotypies in the AD group only. Analyses controlled for age, gender, and parent education. Findings suggest that in AD, EF impairments and stereotypies may be linked to shared brain pathways. (Contains 3 tables.)

The purpose of the study was to count and characterize the range of stereotypies--repetitive rhythmical, apparently purposeless movements--in developmentally impaired children with and without autism, and to determine whether some types are more prevalent and diagnostically useful in children with autism. We described each motor stereotypy recorded during 15 minutes of archived videos of standardized play sessions in 277 children (209 males, 68 females; mean age 4y 6mo [SD 1y 5mo], range 2y 11mo-8y 1mo), 129 with autistic disorder (DSM-III-R), and 148 cognitively-matched non-autistic developmentally disordered (NADD) comparison children divided into developmental language disorder and non-autism, low IQ (NALIQ) sub-groups. The parts of the body involved and characteristics of all stereotypies were scored blind to diagnosis. More children with autism had stereotypies than the NADD comparison children. Autism and, to a lesser degree, nonverbal IQ (NVIQ) less than 80, especially in females contributed independently to the occurrence, number, and variety of stereotypies, with non-autistic children without cognitive impairment having the least number of stereotypies and children with autism and low NVIQ the most. Autism contributed independently to gait and hand/finger stereotypies and NVIQ less than 80 to head/trunk stereotypies. Atypical gazing at fingers and objects was rare but virtually limited to autism. Stereotypies are environmentally modulated movement disorders, some highly suggestive, but not pathognomonic, of autism. Their underlying brain basis and genetic correlates need investigation.

Narrative analysis of personal events provides an opportunity for identifying autism specific issues related to language and social impairments. Eight personal events were elicited from three groups of schoolage children: 14 high-functioning with Autism Spectrum Disorders (HFA), 12 non-autistic with developmental language disorders (DLD), and 12 typically developing matched for chronological age and non-verbal IQ. The coding focused on narrative format (constituents) and style (coherence). The analyses indicate basic knowledge of conventional narrative format in all groups but a consistent lack of high-point in HFA children's stories interpreted as a consequence of their lack of social understanding of narrative. The results suggest novel interventions to foster autobiographical memory in HFA children which may assist in their self-awareness development.

This study examined the ability of young children with autism spectrum disorders (ASD) to detect affective correspondences between facial and vocal expressions of emotion using an intermodal matching paradigm. Four-year-old children with ASD (n = 18) and their age-matched normally developing peers (n = 18) were presented pairs of videotaped facial expressions accompanied by a single soundtrack matching the affect of one of the two facial expressions. In one block of trials, the emotions were portrayed by their mothers; in another block of trials, the same emotion pairs were portrayed by an unfamiliar woman. Findings showed that ASD children were able to detect the affective correspondence between facial and vocal expressions of emotion portrayed by their mothers, but not a stranger. Furthermore, in a control condition using inanimate objects and their sounds, ASD children also showed a preference for sound-matched displays. These results suggest that children with ASD do not have a general inability to detect intermodal correspondences between visual and vocal events, however, their ability to detect affective correspondences between facial and vocal expressions of emotions may be limited to familiar displays.

Postural variability is central to children's locomotion, motor control, and environmental exploration, and lacks standardized methods for systematic assessment. The purpose of this study was to develop and evaluate the feasibility and interrater reliability of Child Posture Variability Coding (CPVC), a method of quantifying postural variability in young children. Videos of parent-child play interactions obtained from a longitudinal study investigating language acquisition in typically developing (TD) children and children with autism spectrum disorder (ASD) were used to develop 33 codes for children's voluntary changes in static and dynamic postures. Interrater reliability was calculated for three raters who independently coded 10 randomly selected videos of children aged 23 to 48 months (TD: n = 5, median = 35, IQR = 12.5; ASD: n = 5, median = 35, IQR = 6.75). Overall, CPVC demonstrated excellent interrater reliability (Krippendorff's α > 0.90). Among all codes developed, five codes (i.e., sit–half, sit–other, crawl, cruise, and supported walk) were not observed by any coders in the sample, but were kept in the coding scheme to reflect normal developmental milestones. CPVC is a reliable, feasible method of quantifying postural variability in young children with and without neurodevelopmental disorders in naturalistic contexts. [ABSTRACT FROM AUTHOR]