Molly K. Colvin

Objective: Learning disorders are common neurodevelopmental disorders that affect cognitive functioning across the lifespan and frequently co-occur with medical and psychiatric conditions. This updated position paper from National Academy of Neuropsychology (NAN)’s Position, Education, and Response Committee discusses the role of neuropsychologists in identifying and diagnosing learning disorders. Method: The history of learning disorders is reviewed, along with key legislation related to special education services and disability accommodations. Recent neuroscience, genetics, and education research related to learning disorders is integrated to outline current challenges and future goals for training, clinical practice, and advocacy. Results: Key recommendations for neuropsychologists related to the assessment of learning disorders are detailed, including routine screening, understanding the interface between neuropsychological evaluations and laws regulating access to special education services and disability accommodations, advocacy for insurance coverage, and training in assessment of learning disorders and appropriate interventions. The paper also highlights the incremental value of neuropsychological assessment in complex cases, including differential diagnosis, identification of co-occurring neurodevelopmental, psychiatric, and medical conditions, clarification of mechanisms underlying poor academic performance, and development of individualized intervention recommendations when school-based evaluation or response to intervention is insufficient. Conclusions: Clinical neuropsychologists are uniquely positioned to advance the science and assessment of learning disorders by integrating academic findings with developmental, cognitive, psychiatric, and medical information to clarify why a student is struggling and to guide individualized treatment planning. Such efforts have the potential to reduce disparities that confer increased risk for lifelong neuropsychological challenges.

Processing Speed (PS) has become established as an area of concern in pediatric populations. Research suggests that it can differentially impact academic, social, and adaptive outcomes. A relationship between cognitive ability, PS weakness, and psychosocial outcomes has been indicated in recent literature. The current study sought to explore the relationship between those with higher cognitive ability and a relative difficulty in PS (Weschler VCI > 110 and Weschler VCI - PSI ≥ 15) in parent and teacher reported behaviors, specifically school engagement and services, social relationships, adaptability/resilience, and negative legal outcomes (e.g. substance use). Data were used from a clinically referred sample of 679 children ages 6-17 (11.2 ± 3.2; 37.3% girls) with high cognitive ability that were part of a larger study (Longitudinal Study of Genetic Influences on Cognition (LOGIC)). Results suggest that parents and teachers observe children with a relative PS difficulty to have more struggle with their approach to work. There were particularly strong associations on teacher rating scales. Discussion highlights the importance of teacher input as an indicator of academic struggle in these youth and discuss implications for further research.

Introduction/Aims: While dystrophinopathies are primarily characterized by progressive muscle weakness with onset during childhood, dystrophin also plays a role in brain development. This study aimed to characterize how neurodevelopmental and psychiatric disorders are currently identified and managed in clinical care of those with Becker and Duchenne muscular dystrophy (BDMD).Methods: Parent Project Muscular Dystrophy (PPMD) disseminated surveys to caregivers and health care providers (HCPs) in the United States to assess the frequency and management of neurodevelopmental and psychiatric disorders of those with dystrophinopathy.Results: 320 caregivers (C) and 74 HCPs responded to surveys. Caregivers indicated higher rates of neurodevelopmental and psychiatric disorders than HCPs, including anxiety (50.5% C, n = 112; 17.8% HCP, n = 19), attention‐deficit hyperactivity disorder (ADHD) (32.0% C, n = 73; 15.9% HCP, n = 17), obsessive‐compulsive disorder (OCD) (25.9% C, n = 57; 11.2% HCP, n = 12), depression (21.6% C, n = 48; 18.7% HCP, n = 20), and autism spectrum disorder (ASD) (21.0% C, n = 47; 10.3% HCP, n = 11). Results also indicated gaps in the assessment and care of these conditions, including lack of routine screening, reduced access to psychologists and psychiatrists, and lack of clarity amongst HCPs about who should manage neurodevelopmental and psychiatric concerns in those with dystrophinopathy.Discussion: Closing the identified gaps in assessment, perception, and care will require increased awareness of neurodevelopmental and psychiatric conditions in dystrophinopathy and screening tools to facilitate early identification of these conditions during routine clinical care.

Introduction/Aims: Pediatric patients with dystrophinopathies [Becker and Duchenne muscular dystrophy (BDMD)] are more likely to have neurodevelopmental and neuropsychiatric conditions. This prospective pilot study tested a novel screening questionnaire developed to identify the common behavioral (B), emotional (E), learning (L), and social (S) difficulties in BDMD.Methods: A total of 45 caregivers of BDMD patients (ages 4–19 years) seen at the Arkansas Children's Hospital Dystrophinopathy Clinic completed the BELS questionnaire during standard clinic visits. To establish external validity, caregivers also completed four well‐validated standardized questionnaires assessing overlapping symptoms [Pediatric Symptom Checklist‐17 (PSC‐17), Colorado Learning Difficulties Questionnaire (CLDQ), the obsessive compulsive disorder (OCD) subscale from the Revised Children's Anxiety and Depression Scale (RCADS), and Barkley Deficits in Executive Functioning Scale (BDEFS)].Results: Caregivers reported high rates of behavioral (>60%), emotional (50%–70%), learning (50%–70%), and social (30%–50%) concerns, even though relatively few patients had clinical diagnoses related to these symptoms. Passive suicidality (i.e., thoughts of death) were also common (22.2%; 10/45 patients). The BELS questionnaire was moderately to highly correlated with total scores on the four well‐validated questionnaires (p < .001), and BELS subscales showed specificity. A BELS score of 21 corresponded with the established PSC‐17 cutoff.Discussion: The BELS questionnaire shows promise as a screening questionnaire to identify neurobehavioral and neuropsychiatric symptoms common in dystrophinopathy. While BELS cannot currently be used as a standalone measure to make clinical diagnoses, identification of symptoms that warrant further follow‐up may improve clinical care and quality of life.

Objective: Research establishing the validity of neuropsychological assessment using telehealth (teleNP) is much needed in pediatric populations. Method: Current analyses compared performances on twelve common neuropsychological measures completed at home via teleNP or in-person during the COVID-19 pandemic in 476 youth (ages 6 to 17, M_age 11.4 ± 3.0). Results: No differences were found on nine measures. In-person performances on three verbal tests were ∼1 scaled score point lower (all p_adjusted <.05). Post-hoc analyses showed that the in-person pandemic performances were comparable to an in-person pre-pandemic cohort (unmasked). Conclusions: Overall, teleNP was comparable to in-person assessment. Results indicate that teleNP administration does not result in substantially different performance in pediatric patients undergoing clinical evaluations.

Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016–2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and natural history analysis. Of 47 patients (four previously reported), most (81%) patients returned to MGH at least once. For patients followed for at least 5 years, symptom progression was observed in all. 55% were female and 9% were older than 18 years at diagnosis. Pathogenic variants in SMAD4 involved protein residues p.Ile500Val (49%), p.Ile500Thr (11%), p.Ile500Leu (2%), and p.Arg496Cys (38%). Individuals with the SMAD4 variant p.Arg496Cys were less likely to have hearing loss, growth restriction, and aortic hypoplasia than the other variant groups. Those with the p.Ile500Thr variant had moderate/severe aortic hypoplasia in three patients (60%), however, the small number (n = 5) prevented statistical comparison with the other variants. Two deaths reported in this cohort involved complex cardiovascular disease and airway stenosis, respectively. We provide a foundation for ongoing natural history studies and emphasize the need for evidence‐based guidelines in anticipation of disease‐specific therapies.

Objective: The COVID-19 pandemic resulted in educational disruption of historic breadth and duration. The impact of school closures and remote learning have been evaluated in recent studies and reflect critical data for neuropsychologists who routinely assess brain development as it relates to diagnosis, recommendations, and informing public policy. Method: Pre-pandemic and contemporaneous literature was summarized, including data on educational disruption and child and adolescent mental health challenges reported during the pandemic, and research on the impact of stress, social isolation, educational achievement, and other factors on brain development during critical developmental windows. Results: Studies indicate that prolonged educational disruption has resulted in attenuated learning gains, most remarkably for those already at risk for educational disparities. Studies have shown increased mental health challenges for youth during the pandemic, with higher rates of mood and eating disorders, and suicidal ideation. Given that some skills develop optimally within specific time periods, pandemic-related disruption has likely contributed to altered developmental trajectories. Conclusion: Trajectory of neuropsychological development of children and adolescents, especially marginalized students, may be affected by effects on learning and mental health due to prolonged educational disruption and psychological stressors. Evaluation and treatment may be delayed due to backlog and increased demand. Clinical neuropsychological practice recommendations are presented with a call to action for the field in moving forward flexibly to increase access to evaluation services.

This study examined the impact of the COVID-19 pandemic on cognitive and academic functioning in 574 youth presenting for outpatient clinical neuropsychiatric evaluations. We extended the prior literature by (a) determining the extent to which academic difficulties documented in population and community samples also occurred in child psychiatric outpatients; (b) evaluating the impact of the pandemic on neuropsychological functions relevant to academic performance (overall cognition, executive functions, and graphomotor skill); and (c) investigating the moderating impact of attention deficit hyperactivity disorder (ADHD) diagnosis. We compared cross-sectional scores on standardized measures for groups of youth evaluated at three time periods related to the COVID-19 pandemic: (a) prior to onset (PRIOR; N = 198), (b) during Year 1 (Y1; N = 149), and (c) during Year 2 (Y2; N = 227). Relative to overall cognitive ability, math scores were lower in Y1 and Y2 and reading scores were lower in Y2. Additionally, relative to overall cognitive ability, youth showed lower working memory in Y1 and lower processing speed in Y1 and Y2. Graphomotor skill and parent-rated executive functions (EF) did not vary significantly across the three time periods. ADHD status did not moderate psychometric test scores but did moderate parent-rated EF. These data suggest that the COVID-19 pandemic has negatively impacted academic and executive functions in child psychiatry outpatients. More research is needed to understand the long-term implications for development.