Clinical Severity Score as a Prognostic Indicator of Communicative Functioning in Cornelia de Lange Syndrome.

Cornelia de Lange syndrome (CdLS) is a rare disorder associated with developmental delay, intellectual disability, autism features, and behavior regulation difficulties. CdLS has been considered to be a spectrum disorder that ranges from classical to atypical involvement. The severity of CdLS based on physical features has been associated with greater neurological abnormalities and hearing impairment; however, the relationship between CdLS severity and behavioral phenotype has not been examined.

Enhancing Pediatric Long COVID Care Through Telementoring: Insights From an ECHO Program.

Long COVID affects a significant number of children, yet clinician knowledge gaps and limited access to specialized care hinder effective management. With fewer than 20 pediatric long COVID clinics in the United States, many families must travel long distances for care. To address these challenges, a pediatric long COVID ECHO (Extension for Community Healthcare Outcomes) program was developed to educate health care professionals on evidence-based care.

The feasibility of remote administration of oral processing speed measures in children with chronic medical conditions.

Processing speed is an important neuropsychological construct, with weaknesses evident across many pediatric medical conditions. During the COVID-19 pandemic, tele-neuropsychological evaluations were widely utilized in children with various health conditions to examine cognitive functioning as part of standard care or disease surveillance. Although remote testing afforded better access to neuropsychological care for many families, psychometric properties of tele-neuropsychological assessments, and particularly the equivalence of processing speed measures across in-person versus telehealth test modality, remain underexamined.

A comparison of traditional face-to-face and remote administration of auditory attention and executive functioning measures in a cohort of clinically-referred pediatric patients.

During the COVID-19 pandemic, teleneuropsychology (teleNP) practice was quickly adopted to afford continuity of clinical care, however, the teleNP literature in children remains limited and focused on specific clinical populations and/or select test measures. Notably, attention and executive functioning are commonly assessed in neuropsychological assessments of patients with medical conditions, psychological, or educational concerns, yet few studies have offered support for teleNP administration of measures targeting these cognitive domains in children. This cross-sectional study involved a retrospective chart review of pediatric patients who underwent an in-person neuropsychological evaluation at an academic medical center before the pandemic ( = 287) or videoconference teleNP assessment during the pandemic ( = 277).

Evaluating the Equivalency of Teletesting and the Impact of the COVID-19 Pandemic on Measures of Reading Achievement in a Clinically Referred Sample.

Objective: The COVID-19 pandemic highlighted the need to build an evidence base to support teletesting as an equivalent modality for standardized neuropsychological assessment. As such, the purpose of this study was twofold. First, this study evaluated teletesting equivalency of standardized reading achievement measures during COVID-19 in children ages 6-16.

Utility of teleneuropsychology services among pediatric patients with long COVID.

To determine the clinical utility of teleneuropsychology (teleNP) services in screening for cognitive concerns in a population of children and adolescents presenting with long COVID. This cross-sectional study evaluated 76 pediatric patients (64% female, = 13.48,  = 2.

Identifying culturally insensitive tests, stimuli, and assessment practices in neuropsychology: A survey of professionals and trainees.

Objective: Identify culturally insensitive tests and assessment practices based on a survey of neuropsychologists and neuropsychology trainees.

Method: A survey was distributed to neuropsychology and psychology listservs asking for respondents to report tests, stimuli, and/or assessment practices perceived as being culturally insensitive and for which populations. A total of 100 participants provided responses, which were coded by three raters to identify commonly reported themes.

Neuropsychology practice guidance for the neuropsychiatric aspects of Long COVID.

The coronavirus disease-2019 (COVID-19) pandemic, caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), has had a profound global impact on individual health and well-being in adults and children. While most fully recover from COVID-19, a relatively large subgroup continues to experience persistent physical, cognitive, and emotional/behavioral symptoms beyond the initial infection period. The World Health Organization has termed this phenomenon "Post-COVID-19 Condition" (PCC), better known as "Long COVID.

Expanding the Neuropsychological Phenotype of KAT6B Disorders: Overlapping Features with KAT6A Syndrome.

KAT6B and KAT6A belong to the MYST family of lysine acetyltransferases, and regulate gene expression via histone modification. Although both proteins share similar structure and epigenetic regulatory functions, it remains unclear if KAT6A/6B mutation disorders, both very rare conditions, yield the same neurocognitive presentation and thus benefit from similar treatment approaches. This study provides a preliminary overview of neuropsychological functioning of 13 individuals with KAT6B disorder (Mean age = 9.

Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends.

Background: KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene. Intellectual disability and speech/language impairment (e.g.

Neuropsychological functioning of pediatric patients with long COVID.

: To determine the neurocognitive profile for youth with long COVID presenting with cognitive concerns. : This study is a case series of 54 pediatric patients (65% female, = 13.48, = 3.

Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.

Background: Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype-phenotype associations in individuals with CdLS is extremely limited, although studies suggest some differences in clinical phenotype severity across variants.

Cognitive disengagement syndrome in pediatric patients with long COVID: associations with mood, anxiety, and functional impairment.

Children with long COVID often report symptoms that overlap with cognitive disengagement syndrome (CDS, previously sluggish cognitive tempo (SCT)), a set of behaviors distinct from attention-deficit/hyperactivity disorder (ADHD) including excessive daydreaming, mental fogginess, and slowed behavior and thinking. Those with long COVID also frequently report low mood and anxiety, which are linked to CDS. The relationships between cognitive difficulties, mood, and functional impairment have yet to be explored in pediatric long COVID.

Association Between Neighborhood Deprivation and Child Cognition in Clinically Referred Youth.

Objective: When socioeconomic status is measured at the individual and/or family level, it has long been associated with cognition in children. However, the association between neighborhood deprivation, an index of community-level socioeconomic status, and child cognition is not fully understood. The goal of this study was to investigate (1) the relationship between neighborhood deprivation and child cognitive functioning and (2) whether child age moderates the relationship between cognitive functioning and neighborhood deprivation.

Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann-Steiner Syndrome.

Objectives: Wiedemann-Steiner syndrome (WSS) is a neurogenetic disorder caused by heterozygous variants in KMT2A. Recent investigations suggest increased anxiety and behavior regulation challenges among those with WSS although the neurobehavioral phenotype remains largely unknown. This study aims to examine the pattern of and associations between executive functioning (EF) and behavior functioning among those with WSS.

The social phenotype associated with Wiedemann-Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality.

The aim of this study was to provide a descriptive overview of the social characteristics associated with Wiedemann-Steiner syndrome (WSS). A total of 24 parents of children/adults with WSS (11F, mean age = 12.94 years, SD = 8.

To confirm your appointment, please press one: Examining demographic and health system interface factors that predict missed appointments in a pediatric outpatient neuropsychology clinic.

Missed patient appointments have a substantial negative impact on patient care, child health and well-being, and clinic functioning. This study aims to identify health system interface and child/family demographic characteristics as potential predictors of appointment attendance in a pediatric outpatient neuropsychology clinic. Pediatric patients ( = 6,976 across 13,362 scheduled appointments) who attended versus missed scheduled appointments at a large, urban assessment clinic were compared on a broad array of factors extracted from the medical record, and the cumulative impact of significant risk factors was examined.

The Interaction of Age at Diagnosis and Neurological Risk Predicts Adaptive Functioning Changes in Pediatric Brain Tumor Survivors.

T-tests from 42 brain tumor patients showed adaptive functioning below normative means at both time points (test interval M=2.60y, SD=1.32).

Performing pediatric neuropsychological evaluation with Chinese patients: A narrative review of the literature and recommendations for practice.

This paper offers a narrative overview of performance-based cognitive tests and behavior rating inventories that can be considered when working with Chinese youth in assessment settings. A total of 46 articles that focused on assessment tools and normative data in Chinese-speaking patients were reviewed. Based on the gaps in research and patterns of strengths/weaknesses across reviewed articles, we provide recommendations for selection of tests and norms while utilizing the ECLECTIC framework.

Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery.

Epigenetics, one mechanism by which gene expression can change without any changes to the DNA sequence, was described nearly a century ago. However, the importance of epigenetic processes to neurodevelopment and higher order neurological functions like cognition and behavior is only now being realized. A group of disorders known as the Mendelian disorders of the epigenetic machinery are caused by the altered function of epigenetic machinery proteins, which consequently affects downstream expression of many genes.

A developmental approach to diversifying neuroscience through effective mentorship practices: perspectives on cross-identity mentorship and a critical call to action.

Many early-career neuroscientists with diverse identities may not have mentors who are more advanced in the neuroscience pipeline and have a congruent identity due to historic biases, laws, and policies impacting access to education. Cross-identity mentoring relationships pose challenges and power imbalances that impact the retention of diverse early career neuroscientists, but also hold the potential for a mutually enriching and collaborative relationship that fosters the mentee's success. Additionally, the barriers faced by diverse mentees and their mentorship needs may evolve with career progression and require developmental considerations.

Clinical utility of teleneuropsychology among pediatric patients with broadly average and low intellectual functioning.

The reliability of teleneuropsychology (teleNP) within pediatric populations, particularly those with low intellectual functioning (LIF; i.e., Intellectual Quotient <80), is largely unknown.