Experiences of Spanish-Speaking Families with a Remote Neurodevelopmental Assessment.

U.S. Hispanic families with limited English proficiency experience barriers to autism diagnosis, such as lack of Spanish-speaking providers and assessments. Remote assessments in Spanish have the potential to address some of these barriers. This study explored the acceptability and feasibility of a remote developmental assessment (Parent Administered Neurodevelopmental Assessment, i.e., PANDABox) for Hispanic infants at high likelihood for autism. The PANDABox was translated into Spanish by two independent groups, synthesized, and reviewed by 10 native Spanish-speakers. Thirteen Spanish-speaking families completed the PANDABox-Spanish with their infant at high likelihood for autism. Remote developmental measures that exist in Spanish were administered for comparison. Families then participated in semi-structured interviews to explore their experiences, which were analyzed in Spanish using an inductive, grounded theory approach. Translation reviewers revealed the need to adapt peekaboo and storybook activities, build in dialogue addressing caregivers' concerns, and add visual supports. PANDABox families valued communicating directly to a Spanish-speaking specialist, felt that the translation was clear, and that, overall, the administration was easy. Families had mixed preferences for in-person or remote assessments, with some families valuing the accessibility and comfort of the PANDABox and others expressing concerns about the validity of remote versus in-person options. Families also discussed barriers related to literacy and confidentiality. The PANDABox-Spanish is a promising option for increasing accessibility to laboratory-grade neurodevelopmental assessment. More broadly, providers need to consider families' familiarity with common assessment activities, access to information about early identification, and concerns related to confidentiality.

White matter microstructure and functional connectivity in the brains of infants with Turner syndrome.

Turner syndrome, caused by complete or partial loss of an X-chromosome, is often accompanied by specific cognitive challenges. Magnetic resonance imaging studies of adults and children with Turner syndrome suggest these deficits reflect differences in anatomical and functional connectivity. However, no imaging studies have explored connectivity in infants with Turner syndrome. Consequently, it is unclear when in development connectivity differences emerge. To address this gap, we compared functional connectivity and white matter microstructure of 1-year-old infants with Turner syndrome to typically developing 1-year-old boys and girls. We examined functional connectivity between the right precentral gyrus and five regions that show reduced volume in 1-year old infants with Turner syndrome compared to controls and found no differences. However, exploratory analyses suggested infants with Turner syndrome have altered connectivity between right supramarginal gyrus and left insula and right putamen. To assess anatomical connectivity, we examined diffusivity indices along the superior longitudinal fasciculus and found no differences. However, an exploratory analysis of 46 additional white matter tracts revealed significant group differences in nine tracts. Results suggest that the first year of life is a window in which interventions might prevent connectivity differences observed at later ages, and by extension, some of the cognitive challenges associated with Turner syndrome.

Assessing Autism in Deaf/Hard-of-Hearing Youths: Interdisciplinary Teams, COVID Considerations, and Future Directions.

Autism spectrum disorders are more prevalent in children who are Deaf or Hard of Hearing (D/HH) than in the general population. This potential for diagnostic overlap underscores the importance of understanding the best approaches for assessing autism spectrum disorder in D/HH youths. Despite the recognition of clinical significance, youths who are D/HH are often identified as autistic later than individuals with normal hearing, which results in delayed access to appropriate early intervention services. Three primary barriers to early identification include behavioral phenotypic overlap, a lack of "gold-standard" screening and diagnostic tools for this population, and limited access to qualified clinicians. In the current article, we seek to address these barriers to prompt an appropriate identification of autism by providing recommendations for autism assessment in children who are D/HH from an interdisciplinary hearing and development clinic, including virtual service delivery during COVID-19. Strengths, gaps, and future directions for implementation are addressed.

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.

BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caused by absent expression of the paternally imprinted gene UBE3A in the central nervous system. Disparities in the management of AS are a major problem in preparing for precision therapies and occur even in patients with access to experts and recognized clinics. AS patients receive care based on collective provider experience due to limited evidence-based literature. We present a consensus statement and comprehensive literature review that proposes a standard of care practices for the management of AS at a critical time when therapeutics to alter the natural history of the disease are on the horizon. METHODS: We compiled the key recognized clinical features of AS based on consensus from a team of specialists managing patients with AS. Working groups were established to address each focus area with committees comprised of providers who manage >5 individuals. Committees developed management guidelines for their area of expertise. These were compiled into a final document to provide a framework for standardizing management. Evidence from the medical literature was also comprehensively reviewed. RESULTS: Areas covered by working groups in the consensus document include genetics, developmental medicine, psychology, general health concerns, neurology (including movement disorders), sleep, psychiatry, orthopedics, ophthalmology, communication, early intervention and therapies, and caregiver health. Working groups created frameworks, including flowcharts and tables, to help with quick access for providers. Data from the literature were incorporated to ensure providers had review of experiential versus evidence-based care guidelines. CONCLUSION: Standards of care in the management of AS are keys to ensure optimal care at a critical time when new disease-modifying therapies are emerging. This document is a framework for providers of all familiarity levels.

Turner syndrome: language profile of young girls at 12 and 24 months of age.

BACKGROUND: Turner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000 live female births. Available evidence suggests that, in the school-age years, girls with TS often require speech and language services; however, little is known about the language development of infants and toddlers. METHOD: This study (N = 31) explored the language profiles of 12- and 24-month-old girls with TS, as well as the percentage of girls who might be "at risk" for language delays. We also followed a subset of 12-month-old girls with TS to 24 months of age to determine the stability of the 12-month findings. RESULTS: Although all mean scores were within the average range at both time points, results revealed a higher prevalence of 24-month-old girls with TS "at risk" for receptive language difficulties. In addition, expressive language skills significantly exceeded receptive language skills at both time points. We found 12-month-old girls to be "at risk" for social and symbolic difficulties based on clinical assessment; only symbolic difficulties were significant based on caregiver report. At 24 months, clinical assessment indicated greater use of speech sounds and words than normative expectations. Caregivers reported greater use of speech sounds, and also, greater use of gestures. Although some changes occurred over a 1-year time span (12 to 24 months), all mean test scores remained within the average range and the changes in the percentage of girls manifesting "at risk" status on either the PLS-4 or CSBS-DP were non-significant. CONCLUSIONS: Although within normal limits, receptive language skills were found to be significantly lower than expressive language skills at both ages. Social and symbolic communication skills also were in the average range, with both showing significant improvement from 12 to 24 months based on clinical assessment. Caregiver report found that use of gestures and production of speech sounds not only improved from 12 to 24 months, but also exceeded normative expectations. Findings suggest the presence of relatively intact speech and language abilities during the first 2 years of life, with perhaps some emergent concerns for receptive language development. Ongoing developmental surveillance will be important.

Early Development of Infants with Turner Syndrome.

OBJECTIVE: To examine the early cognitive, temperament, and adaptive functioning of infants and toddlers with Turner syndrome (TS). METHODS: Cognitive abilities were measured using the Mullen Scales of Early Learning at 1 year of age for 31 girls with TS and compared with neurotypical female (N = 53) and male (N = 54) control groups. Temperament (Carey Toddler Temperament Scales) and adaptive functioning (Vineland Adaptive Behavior Scales-Second Edition) were measured at 1 year of age and compared with normative data. An exploratory analysis of cognitive/developmental trajectories was also conducted comparing age 12-month to 24-month time points for 22 TS subjects. RESULTS: Infants with TS performed largely within the average range for adaptive behavior, temperament, and early cognitive development with some increased risk for delays in language and significant increased risk for delays in motor skills (p < 0.001). Although exploratory, there was some suggestion of slower rates of progression in fine-motor and visual reception skills from 12 to 24 months of age. CONCLUSIONS: Infants and toddlers with TS exhibit a relatively positive neurodevelopmental profile overall, with some indication of an increasing gap in function in fine-motor and visual perceptual abilities as compared to neurotypical peers. It is unclear whether these apparent differences represent normal variability in this very young population or, perhaps, are early precursors of later phenotypic characteristics of TS in the school-age and young adult years.

Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome.

Although informed consent is critical for all research, there is increased ethical responsibility as individuals with intellectual or developmental disabilities (IDD) become the focus of more clinical trials. This study examined decisional capacity for informed consent to clinical trials in individuals with fragile X syndrome (FXS). Participants were 152 adolescents and adults (80 males, 72 females) with FXS who completed a measure of decisional capacity and a comprehensive battery of neurocognitive and psychiatric measures. Females outperformed males on all aspects of decisional capacity. The ability to understand aspects of the clinical trial had the strongest association with the ability to appreciate and reason about the decision. Scaffolding improved understanding, suggesting researchers can take steps to improve decisional capacity and the informed consent process.

Object play in infants with autism spectrum disorder: A longitudinal retrospective video analysis.

BACKGROUND AND AIMS: Early play behaviors may provide important information regarding later-diagnosed developmental delays. Play behaviors of young children with autism spectrum disorder (ASD) are restricted in diversity, frequency, and complexity. Most ASD research focuses on play in children over 18 months of age. This study examined three groups of infants (later diagnosed with ASD, later diagnosed with other developmental disorders, and typically developing) with the aims of: (1) describing the play behaviors of the three groups of infants at two time points (9-12 months and 15-18 months); (2) examining group differences in four hierarchical levels of play at both time points; (3) comparing groups with respect to the highest level of play achieved; and (4) determining if the highest level of play achieved by infants with developmental delays, including ASD, correlated with later developmental outcomes. METHODS: The current study used longitudinal retrospective video analysis to examine object play behaviors of the three groups of infants (total n=92) at two time points (time 1: 9-12 months of age, and time 2: 15-18 months of age). Coding of play behaviors was based on existing literature and distribution of data from the current study. Developmental outcomes examined were measured using the Vineland Adaptive Behavior Scales, Childhood Autism Rating Scale, and a non-verbal developmental quotient calculated using visual reception scores from the Mullen Scales for Early Learning. RESULTS: Results indicate group differences in play, with infants later diagnosed with ASD showing significantly less sophisticated play than those with typical development. In addition, modest but significant correlations were found between highest level of play achieved at time 2 (15-18 months) and later outcomes for those with developmental disorders, including ASD. CONCLUSIONS AND IMPLICATIONS: Results suggest that examination of infant play behaviors is important for early screening and intervention planning to potentially mitigate effects on later developmental outcomes.