History Of Learning Disability Research Articles

Executive functioning in low education contexts: evidence from a controlled clinical trial among illiterate adults

AbstractBackgroundEducation level is a well established modifiable risk factor for dementia prevention. Aiming to improve cognitive reserve and reduce dementia risk in vulnerable populations in Brazil, we created a literacy training program targeting low educated and illiterate adults. In this study, we intend to analyze how executive functioning and cognitive heterogeneity may interfere in the program’s effectiveness.Method130 adults attending classes for adult education were screened and 108 met inclusion criteria. The group was divided into control (regular classes, n = 51) and intervention (regular classes + program targeting literacy training) (n = 57). In addition to answering clinical and education history questions, all the subjects underwent an extensive neuropsychological assessment at baseline and at follow up (after six months of intervention), measuring global cognition, executive functioning (EF), memory and language.Result77 subjects completed all the assessments at the end of the study. Mean age (years) was 59.0 (±9.17), mean education level (years) 2 (±2.18), 79.2% women and 89.6% Blacks. No significant differences were found between control and intervention groups improvement on reading abilities (reading accuracy of isolated words) at follow up. Considering abandonment reasons of formal education in childhood, subjects with childhood history of learning disability (CHLD) had less improvement on reading abilities at follow‐up. The CHLD group also showed poorer performance on a composite score of EF tasks at baseline (F = 3.814, p = 0.021). EF level at baseline correlated with reading abilities at baseline (Spearman’s rho = 0.659, p<0.001) and follow‐up (Spearman’s rho = 0.703, p<0.001).ConclusionBoth control and intervention groups showed improvement on reading abilities, regardless of specific literacy training. EF seems to have an impact on reading skills progress. Subjects with CHLD currently display poorer EF and show very little improvement of reading skills, which might indicate an undiagnosed neurodevelopmental disorder (e.g. ADHD, dyslexia, dyscalculia): an uncared condition still harming cognitive reserve improvement to this day. Thus, there is greater risk of developing dementia. Inclusive learning environments must also be considered for low educated populations.

4 Extending the 5P Clinical Decision Rule Predicting Concussion Recovery Using an Evidence-Based Assessment Model

Objective:Construction of predictive algorithms of concussion symptom recovery at 4 and 12 weeks post-injury using an evidence-based assessment (EBA) model to guide clinical decision-making, extending the 2016 5P decision rule.Participants and Methods:Children and adolescents, ages 8-18 (n=1,551; mean age=12.78; 62% male), followed over 12 weeks in the prospective multicenter cohort study (Predicting Persistent Post-Concussive Problems in Pediatrics, 5P; Zemek et al., 2016). The age-specific PostConcussion Symptom Inventory (PCSI) (8-12, 17 items; 1318 years, 20 items) was completed at six timepoints from the ED and at 1, 2, 4, 8, and 12-weeks post-injury. Logistic regression analysis was applied to the set of key variables including the PCSI Total Retrospective-Adjusted PostInjury Difference (RAPID) scores, patient demographics and pre-injury history, and injury characteristics to predict participant recovery status (Recovered, Not Recovered) at the 4- and 12-week endpoints. The resulting recovery-predictive equations identified the significant sets of variables with symptom scores at four successive post-injury timepoints (ED, 1, 2, 4 weeks). Logistic Regression Threshold values were established at the 90th CI against which individual patient data was applied to determine recovery status. Participants with sub-threshold sums were deemed recovered at the target endpoint (4- or 12-weeks post-injury).Results:A total of 19 predictive equations were generated for the two age groups across the recovery timeline. Four sets of equations were developed to predict symptom recovery status at 4-weeks post-injury for the two age groups (8-12 AUC=0.679-0.884; 13-18 AUC=0.752-0.909). Prediction of symptom recovery status at 12-weeks post-injury yielded six equations for the 8-12 age group (AUC=0.723-0.825), and five equations for the 13-18 age group (AUC=0.724-0.887). Total PCSI RAPID score was identified as a significant variable in each of these 19 equations. Participant sex was identified as significant in 18 of the 19 constructed equations. Other variables that were identified as significant at varying timepoints included age, pre-injury history of learning disability and migraines, and an early post-injury sign in the ED (answering questions more slowly than usual). Examples of the equations include: Week 1 predicting symptom recovery status at 4-weeks: 8-12 yr group-(Sex*.802)+(week 1 Total RAPID Score*.142)+(Age2* .053)+(-3.851) with AUC=0.808; 13-18 yr group-(Sex*.980)+(Week 1 Total RAPID Score*.071)+(-3.261) with AUC=0.861.Conclusions:Clinicians’ management of the concussion recovery of children and adolescents can benefit from EBA guidance. The 5P dataset (Zemek et al., 2016) provides an important window into “typical” and “atypical” recovery trajectories, establishing an initial predictive decision rule for a 4-week recovery endpoint, at the ED timepoint only, reporting AUC=0.69. The current study extends the prediction modeling using successive post-injury timepoints reflecting a typical management timeline. Symptom reports from both 1- and 2-weeks post injury with patient demographics/ history predicted symptom recovery status at 4- and 12-weeks post-injury, significantly improve predictive accuracy over the ED timepoint alone. These predictive equations, when applied to the individual patient, can serve to assist the clinician’s understanding of the patients’ recovery trajectory, i.e., on track for a typical or atypical recovery, further informing the intervention strategy.

A-49 Sideline Concussion Assessment Tool symptoms predict poorer mental health outcomes in college athletes

Abstract Purpose: Assessment of emotional functioning is essential in sports-related concussion (SRC) management. This study investigated the prediction of mental health outcomes from the SCAT-3 Symptom Scale. Methods: Canadian university athletes who compete in contact sports participated in a large-scale study (Active Rehabilitation). A total of 235 participants (males = 67%) completed the Brief Symptom Inventory (BSI), Quality of Life Scale (QOLS), and Sideline Concussion Assessment Tool, 3rd edition (SCAT). Step-wise regression analysis using demographic variables (gender, age, history of Learning Disability, history of ADHD, diagnosis of psychiatric condition) and psychological symptoms from the SCAT were used as predictors for the BSI (Depression and Anxiety) and QOLS (Depression and Anxiety). Results: Regression analysis revealed female gender, previous psychiatric diagnosis and Nervousness (SCAT) significantly predicted higher scores on the Depression subscales of BSI (R2 = 0.21, F1,231 = 20.3, p < 0.001) and Quality of Life (R2 = 0.21, F1,231 = 18.0, p < 0.001). Female gender, previous psychiatric diagnosis, Nervousness and Irritability predicted higher scores on both the Anxiety subscales of the BSI (R2 = 0.23, F1,230 = 16.9, p < 0.001) and Quality of Life (R2 = 0.26, F1,230 = 20.2, p < 0.001). Contrary to other findings, history of concussion was not significantly predictive of higher Depression and/or Anxiety scores (although there was a trend between number of concussions and higher symptom report). Conclusions: SCAT symptoms may capture heightened emotional symptom report with more robust scales measuring emotional functioning. In contrast, concussion history did not predict emotional symptoms, a finding contrary to published literature.

A-08 Differences in Long-term Stability of Baseline ImPACT Scores in High School Football Players

Abstract Purpose: To explore the long-term stability of ImPACT baseline composite scores at a one-year interval across multiple age groups within a sample of high school football players. Methods: A total of 660 high school football players completed two ImPACT baseline assessments approximately 1 year apart (average days between = 337.8, SD = 68.0). Subjects were separated into three groups based on age at first baseline: Age 14: n = 249; Age 15: n = 246; Age 16: n = 165. Subjects reporting concussion history and/or history of Learning Disability or Attention-Deficit/Hyperactivity Disorder at either timepoint were excluded. Results: Repeated measures t-tests for subjects who completed initial baseline at 14 indicated significant differences in Verbal Memory (t(248) = −2.99, p = 0.003; Cohen’s d = 19), Visual Memory (t(248) = −4.47, p < 0.001; d = 0.28), and Visual Motor Speed (t(248) = −8.18, p < 0.001; d = 0.52). Repeated measures t-tests for subjects who completed initial baseline at 15 indicated significant differences in Visual Memory (t(245) = −4.82, p < 0.001; d = 0.31) and Visual Motor Speed (t(245) = −7.89, p < 0.001; d = 0.50). Repeated measures t-tests for subjects who completed initial baseline at 16 indicated significant differences in Visual Motor Speed (t(164) = −5.32, p < 0.001; d = 0.41). Conclusions: Overall, ImPACT composite scores appear more variable for younger athletes with stability increasing as athletes develop. Clinicians should consider differing degrees of variability when planning pre-season baselines (i.e., whether to assess annually or bi-annually) as well as recency of baselines when interpreting change following injury.

A-19 Distress Predicts Poorer Cognitive Performance At Post-Injury In Concussed Athletes

Abstract Purpose: This study evaluated the consistency between athletes’ self-reported cognitive symptoms and cognitive test performance. Methods: The sample included 784 Canadian Football League athletes who underwent standardized cognitive testing with cognitive testing (ImPACT) and the Brief Symptom Inventory (BSI-18) at baseline. Over 2 consecutive seasons, 46 players were diagnosed with concussions following assessment with team physicians within 48 hours; 10 were eliminated due to missing data. Five cognitive symptoms (feeling slowed down, feeling in a fog, not feeling right, difficulties concentration, difficulties with memory) were used to create a composite score (Cog). The Cog index, the depression, anxiety, total index scores from the BSI, and the 5 ImPACT cognitive domains were correlated at baseline and post-injury. History of learning disabilities, ADHD, psychiatric diagnosis, and history of concussion were co-variates. Results: There were no significant correlations between Cog, depression, anxiety or total BSI scores and the ImPACT cognitive domains at baseline. At post injury there were no significant correlations between Cog or ImPACT index scores. In contrast, significant negative correlations were found between BSI Anxiety and verbal memory (r = 0.67, p < 0.01), visual memory (r = 0.68, p < 0.01), and visual-motor processing speed (r = 0.48, p < 0.05). In addition, there were significant negative correlations between the BSI total score and visual memory (r = 0.51, p < 0.05) and reaction time (r = 0.55, p < 0.05). Conclusions: Self-reported cognitive difficulties do not correlate with poorer cognitive outcomes in our sample of professional football players. However, distress at post-injury was significantly correlated to performance, suggesting psychological variables may play a role in cognitive functioning.

Fifty years of the British journal of learning disabilities: The power of the past

Accessible summary This special issue of the journal celebrates the 50th birthday of the British Journal of Learning Disabilities (BJLD). The stories in this special issue are about the history of learning disability from around the world. It is important that people know about the history of learning disability, because people with learning disabilities have been kept in the dark for too long. Ian Davies says “why should we be forgotten? We're as much a part of society as everyone else”. Over the years BJLD has included stories about learning disability history, but many of these stories were written by people who do not have learning disabilities. In the past few years, people with learning disabilities have been doing important history projects. In this special issue, we have included stories about history that have been written by people with learning disabilities. In the next 50 years, it needs to be easier for people with learning disabilities to write for journals like BJLD. It should also be easier for people with learning disabilities to find out about other people's research in journals like BJLD.

‘Sharing our voices’—Taking a learning disability history project online during a pandemic

AbstractThis paper reviews the challenges faced by a team at the Grace Eyre Foundation in running a coproduced oral history project during the pandemic. It examines the benefits and challenges of working online, comparing this to face‐to‐face approaches.For over 100 years, the Grace Eyre Foundation has provided support to people with learning disabilities and/or autism across Sussex. Its founder, Grace Eyre Woodhead, was a pioneer—from around 1896 until her death in 1936, she advocated supporting people with learning disabilities in the community rather than in large, isolated institutions.With Heritage Lottery funding awarded in 2019, ‘Sharing Our Voices’ set out to: create a digital, oral history collection of people who had lived in Shared Lives arrangements since the 1950s. create a digital archive of the life and work of Grace Eyre Woodhead. devise a play inspired by the experience of exploring these histories, to be performed as part of the Brighton Fringe Festival 2021.This article: Describes how the Project Team adapted to continue the project during the 2020–2021 lockdowns. Discusses the opportunities, and limitations, of training people using online technologies. Demonstrates the opportunities, and limitations, of conducting oral history interviews online. Concludes that while online technologies are useful, enabling oral history work to continue under restrictions, there are limits to what can be achieved. We set out some of our learning here but it is hard to see how working online could ever fully replace the benefits of meeting face to face.

Learning disability history: A guide to method for the prospective researcher

AbstractBackgroundHere, I examine the status of ‘learning disability’ as a basic concept. This kind of questioning may be thought a task for philosophy, or at least for ‘theory’ or ‘disability studies’.Materials and methodsI identify history instead as a discipline well placed to reveal the category errors that surround the concept.ResultsThese begin with the word ‘disability’ itself, which subliminally identifies learning disability as a natural impairment like physical and sensory impairment, rather than as the creation (unlike these latter) of human beings ourselves over the long historical term. The error of dealing with learning disability as if it were a natural kind is reinforced, in conventional histories, by trying to diagnose it retrospectively. I illustrate these points by taking certain major items of the psychologist's vocabulary—‘the mind’, logical reasoning, abstraction, development, normal intelligence and autism—and show briefly how such things do not exist in nature but, in both a conceptual and a material sense, have emerged from the long course of historical contingencies.ConclusionsMy examples demonstrate the need for and validity of a historical method specific to learning disability, which can radically expand the horizons for researchers and busy practitioners, and contribute to the liberation of people carrying learning disability labels.

Being part of history, being part of activism: Exploring the lives and experiences of Black people with learning disabilities

AbstractMy name is Paul Christian. I am a Black British man with learning disabilities. The lives and experiences of Black people with learning disabilities are under ‐ represented in the UK history of learning disability. This article explains my involvement in activism to change this and shares the learning from these projects. It discusses the process of co‐writing and why research is needed to record and share the experiences of Black people admitted to the former institutions and the importance of accessible information about Black history, race and racism.

EP089: 47, XXY: Mathematic capabilities and the impact of Hormonal Replacement Treatment (HRT)

47,XXY, also known as Klinefelter syndrome, is the most frequently occurring sex chromosome aneuploidy with an incidence of approximately 1:600 live male births. It is medically characterized by hypogonadism, azoospermia, micropenis, and tall stature. The neurodevelopmental phenotype includes speech and motor delay, language-based learning disabilities, executive dysfunction, reduced expressive language, and increased risk for anxiety. Academic achievement for reading and writing has been shown to be largely impacted in school-aged males with 47,XXY. For example, an early study reported an increased risk for dyslexia due to challenges in processing speed, language, and memory despite intact intelligence quotients (IQ). Further, a more recent study revealed mastering school curricula often requires special education intervention. Math-related achievement, however, is a component of the 47,XXY neurodevelopmental profile that has been largely overlooked. There are a few studies that have indirectly demonstrated reduced arithmetic capabilities in 47,XXY compared to neurotypical controls, but none have delineated the specific mathematical skillsets that are impacted by a supernumerary X. Thus, we aimed to expand on this paucity of literature by comprehensively examining mathematical skills in school-aged males with 47,XXY. Further, though consistent in symptomatology, the phenotype is widely variable in severity depending on factors such as timing of diagnosis, family learning disability (FLD), and access to treatment. The potential profound benefits of Hormonal Replacement Therapy (HRT), or the administration of testosterone enanthate, on neurodevelopmental challenges in males with 47,XXY have been well-documented. In school-aged males specifically, HRT has been associated with increased expressive ability, working memory, and executive function. Therefore, we also explored the potential effect of HRT on mathematical achievement in our cohort. Our cohort consisted of 111 prenatally diagnosed school-aged males with 47,XXY (CA: 133 months). Those who were postnatally diagnosed, presented with mosaicism or other copy number variants (CNVs), or had a positive family history of learning disabilities were excluded from this study. An in-depth history was recorded in which HRT statuses were obtained. All participants were assessed by their respective pediatric endocrinologists who determined HRT administration. Study participants completed the KeyMath-3 and Wechsler Intelligence Scale for Children, 4th or 5th Edition (WISC-IV/V). For the purpose of this study, only the Arithmetic subtest was used. To investigate the potential effect of HRT on mathematical skills, participants were bifurcated into untreated (No-T, N=22) and treated (T, N=89) groups. A two-tailed t-test determined statistically significant group differences on each assessment, if any. Participants showed no significant differences on any demographic scales including maternal and paternal age (p=0.97 and p=0.19, respectively), birthweight (p=0.90), delivery method (p=0.79), race (p=0.55), or socioeconomic status (p=0.88). Significant effect of treatment was observed on several mathematical subtests of the KeyMath-3 including Numeration (p=0.005), Algebra (p=0.03), Geometry (p=0.03), Mental Computation and Estimation (p=0.005), Multiplication and Division (p=0.03), and Foundations of Problem Solving (p=0.05). The T group also demonstrated significantly increased scores on the Operations (M=115.28, p=0.004) and Total Test (M=116.38, p=0.01) areas compared to the No-T group (M=103.65 and M=106.62, respectively). Additionally, while not statistically significant, the T group exhibited higher average scores on the rest of the subtests and areas including Measurement (M=12.88), Data Analysis (M=12.40), Basic Concepts (M=117.03), Addition and Subtraction (M=12.55), Applied Problem Solving (M=12.21), and Applications (M=112.61) compared to the No-T group (M=11.95, M=11.55, M=110.90, M=11.11, M=11.18, and M=106.29, respectively). On the WISC-IV/V Arithmetic subtest, the T group (M=115.28, SD=2.72) did demonstrate a higher mean with less variability than the No-T group (M=115.28, SD=3.67), though not quite statistically significant (p=0.06). Our findings are the first to shed light on the mathematical profile of treated and untreated school-aged males with 47,XXY. Our observations of reduced scores in the untreated group corroborates a past study describing a proposed susceptibility to mathematics disability in this population. Other previous studies have documented the similar cognitive mechanisms shared between math disability and reading disability, as well as the increased risk of comorbidity. However, the neurodevelopmental profile for males with 47,XXY is usually restricted to only include language-based learning disability. Our findings suggest the phenotype may be expanded to include all learning disabilities, including those math-related.

Investigation of the Association Between History of Learning Disabilities and Primary Progressive Aphasia in Brazilian Portuguese Speakers.

Primary Progressive Aphasia (PPA) is a neurological syndrome characterized by impaired language due to neurodegeneration. It is subdivided into three variants: semantic, agrammatic or nonfluent, and logopenic. Pieces of evidence have suggested that learning disabilities in childhood, such as dyslexia, might be susceptibility factors in the occurrence of PPA in adulthood. The objective of this study was to verify the existence of the relationship between PPA and the history of learning disabilities of patients and their children, compared to a control group of individuals with Alzheimer's disease (AD). A questionnaire was applied to investigate the presence of indicators of learning disabilities and difficulties in individuals with PPA and AD and their children. Twenty subjects with PPA and 16 with AD participated in the study. Our findings are presented and discussed in light of the current scientific evidence and the social, educational, and economic Brazilian scenario. Despite the challenges of doing research with individuals with PPA in Brazil, we present the first evidence about the investigation of association between the history of learning disabilities and difficulties and PPA in native Brazilian Portuguese speakers.

The history of the history of learning disability

AbstractThis article traces and summarises historiographical trends in the history of learning disability. It identifies three major waves of historical approaches beginning with a medicalised analysis which emerged in the early 20th century. This presented a story of medical progress which began with the asylum movement of the 19th century and represented ‘idiots’ as creatures of the asylum and objects of the medicalised gaze. In the 1990s a new social history challenged these assumptions, focusing on the iniquities of institutionalisation and the eugenics period, while attempting to give a voice to people with learning disabilities and their families in their own history. A cultural history movement later emerged to challenge the idea of learning disability as a fixed universal concept over time. It argued that the idea of learning disability (in all its different linguistic iterations) is contingent on time and place, and a product of the culture within which it is framed. Not all work fits neatly into one of these categories, sometimes they overlap and sometimes they cannot be easily categorised. Nevertheless, these broad frames of reference within the historiography of learning disability do point to wider social, cultural and political concerns, which are worth holding in mind as we consider how the ‘work’ of history can and does act to inform attitudes, policy‐making and change. The authors describe the encouraging recent emergence of historian activists who seek to write and define their own history, and who may constitute a fourth wave in the historiography of learning disability.

Writing a history of learning disabilities as Joey's dad

AbstractIt is perhaps inevitable that the academic study of learning disabilities is often undertaken by established scholars with little lived experience of the condition. So, what has it been like for someone from outside the academy, with a long career in the arts, who is also the father of a severely learning‐disabled young man, to write a book‐length history of learning disabilities in culture and society? How is it possible to reconcile such a biological reality with the many caveats about the social construction of the condition? How can we retain a belief in scientific analysis when the categorisation of learning‐disabled people seems to have caused as many problems as it solves? Furthermore, how can such an account be attempted when so much of the written record is by people who are placed in positions of power over learning‐disabled people and when the true voice of experience is so often silenced, or, like the author's son, silent? The attempt to answer these questions reveals a field rich with contradiction. Despite some advances, much of the social and cultural history of learning disabilities tells a tale of neglect, abandonment and abuse, with confused cultural attitudes too often shaping practice. When the telescope is reversed, however, severe learning disabilities provide us with a kind of Brechtian “alienation effect” which reveals the fault lines running through so many progressive movements and helps us to frame them historically, while also challenging assumptions about how those with severe learning disabilities are regarded and can best be given the support and freedom that they need.

Antonia's story: Bringing the past into the future

AbstractBackgroundThis paper reports on a participatory project on the history of learning disability. The paper makes contributions to discourses on using participatory research methods with people labelled with learning disabilities, on the nature of research impact in participatory research, and on the lived experience of learning disability today.MethodsWe used a two‐step methodology. The first step involved searching for and selecting archive material relating to the history of learning disability. The second step involved a series of participatory workshops. We worked collectively to systematically analyse the case history of Antonia Grandoni. Then we responded to it in a variety of creative ways. In doing so, we made connections between Antonia's life and our own.FindingsMany of Antonia's experiences seem very similar to what people labelled with learning disabilities often encounter today. These include discrimination, segregation and dehumanisation. Despite this, we very much enjoyed doing the research. As well as finding out about the history, some of us learned new skills, some of us grew in confidence, and we also made new friends.ConclusionsParticipatory methods are an effective way of making digital archive material more accessible to people labelled with learning disabilities. In this project, using participatory methods revealed a lot of parallels between how we think somebody experienced learning disability in the mid‐19th century, and how it is experienced today. They also resulted in significant impact on the people doing the research.

The beginning of the end of the great confinement: Institutional scandals and inquiries in the immediate post‐world war II era

AbstractBackgroundThe immediate post‐world war II era was a critical turning point in the history of learning disability in the United Kingdom and much of the global north. Most notably the gradual move away from institutional provision to a community‐oriented approach. While many diverse threads contributed to this change, a key influence was the slow, and incomplete, recognition that institutional provision was not an acceptable option. From the mid 1950s onward a number of commissions and inquiries considered the question of institutions both generally and in response to specific incidents and scandals. This paper traces the history and influence of this early discourse in the third quarter of the 20th century and locates it within the long history of scandals and abuse.MethodsMethods included a review of original documents from the period along with scholarly and grey literature review.Findings and ConclusionsThe recurring scandals and public outcry that surrounded the long‐stay institutions of this period was a pivotal piece in spurring the move away from institutions towards community care. While significant progress was made deinstitutionalization remains a work in progress and institutions remain remarkably resilient despite a long and consistent history of failure.

Preseason Symptom Reporting and Cognition in Middle School Athletes with Past Concussions.

This study examined the association between past concussions and current preseason symptom reporting and cognitive performance in 9,257 youth ages 11-13. Participants completed neurocognitive testing prior to participating in a school sports between 2009 and 2019. We stratified the sample by gender and number of prior concussions and assessed group differences on the Post-Concussion Symptom Scale total score and the ImPACT cognitive composite scores. Those with≥2 prior concussions reported more symptoms than those with 0 concussions (d=0.43-0.46). Multiple regressions examining the contribution of concussion history and developmental/health history to symptom reporting showed the most significant predictors of symptoms scores were (in descending order): treatment for a psychiatric condition, treatment for headaches, history of learning disability (in boys only), history of attention-deficit/hyperactivity disorder, and age. Concussion history was the weakest statistically significant predictor in boys and not significant in girls. Cognitively, boys with 1 prior concussion had worse speed those with 0 concussions (d=0.11), and girls with≥2 prior concussions had worse verbal/visual memory than girls with 0 concussions (ds=0.38-0.39). In summary, youth with≥2 prior concussions reported more symptoms than those with no concussions. Boys with multiple concussions performed similarly on cognitive testing, while girls had worse memory scores.

Impact of Psychological Disorders on Clinical Presentation of Pediatric Patients Following a Concussion

To examine differences in clinical symptom measures between pediatric patients with a history of depression and/or anxiety and no history of psychological disorders (PD) following a concussion. Limited information exists regarding impact of pre-existing psychological disorders on initial clinical presentation in pediatric patients following concussion. Data were prospectively collected from participants aged 5-18 diagnosed with a concussion between August 2015 and March 2020. Demographics and clinical measures from initial presentation were reviewed, including SCAT-5 Symptom, Patient Health Questionnaire (PHQ-8), Generalized Anxiety Disorder (GAD-7) scale, and Brief Resiliency Scale (BRS). Participants were separated into 4 groups based on self-reported prior diagnosis: depression, anxiety, both, and no PD. One thousand seven hundred seventy participants included: 50 depression, 82 anxiety, 84 both, and 1,554 no PD history. There was no significant difference in age, sex, prior concussion history, or time to presentation between the depression and no PD group, or the anxiety and no PD group. The both group was older, had more females and prior concussions, and presented later than the no PD group. The depression, anxiety, and both groups had higher rates of learning disorders than the no PD group (40%, 47.6%, 46.4% vs 16.4%, all p < 0.001). Each PD group had higher symptom severity scores than the no PD group. The PD groups all reported higher GAD-7 and PHQ-8 scores and lower BRS scores compared to the no PD group. The both group had the highest symptom severity, GAD-7, and PHQ-8 scores along with the lowest BRS score. All findings p = 0.001. Differences were seen in participants with a history of depression and/or anxiety at initial clinical presentation, including history of learning disability, symptom severity scores, and screening tests for depression, anxiety, and resiliency compared to those without a history of PD. Understanding differences at initial presentation may urge providers to engage multidisciplinary teams in facilitating patient recovery.

INITIAL CLINICAL PRESENTATION OF PEDIATRIC PATIENTS WITH PSYCHOLOGICAL DISORDERS FOLLOWING CONCUSSION

Background:There is limited evidence regarding the impact of pre-existing psychological disorders on the initial clinical presentation in pediatric patients following concussion.Hypothesis/Purpose:To examine differences in clinical symptom measures between pediatric patients with a history of depression and/or anxiety and no history of psychological disorder (PD) following a concussion.Methods:Data were prospectively collected from participants enrolled in the North Texas Concussion Network Registry (ConTex) between August 2015 and March 2020. Participants aged 5-18 years diagnosed with a concussion were included. Demographic variables and a range of clinical measures from initial presentation were reviewed, including SCAT-5 Symptom Log, Patient Health Questionnaire (PHQ-8), Generalized Anxiety Disorder (GAD-7) scale, and Brief Resiliency Scale (BRS). Participants were separated into four groups based on self-reported prior diagnosis: depression, anxiety, depression+anxiety, and no PD.Results:A total of 1770 participants were included: 50 with depression, 82 with anxiety, 84 with both, and 1554 with no history of PD. There was no significant difference in age, sex, prior concussion history, or time to presentation between the depression and no PD group, or between the anxiety and no PD group. A significant difference was found between the depression+anxiety group and no PD group in the following variables: age (15.11±1.8 vs 13.68±2.61 years, p<0.001), prior concussion history (40.5% vs 23.9%, p=0.001), and time to presentation (31.47±25.82 vs 19.85±26.33 days, p=0.01). Additionally, there were more females in the depression+anxiety group than the no PD group (71.4% vs 47.8%, p<0.001). The depression, anxiety, and depression+anxiety groups had significantly higher rates of learning disorders than the no PD group (40%, 47.6%, 46.4% vs 16.4%, all p<0.001).A significant difference in SCAT-5 symptom severity scores between the depression, anxiety, and depression+anxiety groups compared to the no PD group was found. The PD groups all reported higher GAD-7 and PHQ-8 scores and lower BRS scores compared to the no PD group. The depression+anxiety group had the highest symptom severity, GAD-7, and PHQ-8 scores along with the lowest BRS score. Table 1.1 summarizes these significant findings.Conclusion:Differences were seen in participants with a history of depression and/or anxiety at initial clinical presentation, including history of learning disability, SCAT-5 symptom severity scores, and common screening tests for depression, anxiety, and resiliency compared to those without a history of PD. Understanding these differences at initial presentation may urge providers to engage multidisciplinary teams early in facilitating patient recovery.Tables/Figures:

Klinefelter Syndrome and Turner Syndrome.

1. Carole Samango-Sprouse, EdD*,†,‡ 2. Sophia Q. Song, BA‡ 3. Angela E. Lin, MD§ 4. Cynthia M. Powell, MD¶ 5. Andrea L. Gropman, MD*,** 1. *George Washington University, Washington, DC 2. †Florida International University, Miami, FL 3. ‡Department of Research, The Focus Foundation, Davidsonville, MD 4. §Massachusetts General Hospital for Children, Boston, MA 5. ¶University of North Carolina at Chapel Hill, Chapel Hill, NC 6. **Children’s National Medical Center, Washington, DC Sex chromosome aneuploidy (SCA) syndromes refer to disorders with an abnormality of sex chromosome number. The most common are Klinefelter syndrome (KS), resulting from the gain of an X chromosome in males, and Turner syndrome (TS), reflecting the loss of an X chromosome or the presence of a structurally different X chromosome in females. Whereas most patients with KS have nonmosaic 47,XXY, only 40% of women with TS have 45,X; the remainder have a variety of mosaicisms. The syndromes also contrast in that males with KS are characteristically tall, whereas females with TS are typically short unless they receive hormonal treatment. Despite efforts to increase awareness, KS and TS are often underdiagnosed, leading to delayed care. Only 25% of men with KS are ever diagnosed, with fewer than 10% detected prenatally, and with a median age of 27 years for those identified later in life. For TS, the median age at diagnosis is 6.6 years. Although not exclusively, optimal neurocognitive outcomes depend on the timing of diagnosis and access to early targeted treatment, so fortunately the recent development of noninvasive prenatal screening is increasing the early identification of these disorders dramatically. Pediatricians should be aware of signs that allow for early detection, and the importance of prompt referral for testing and therapy. KS occurs in 1 in 660 live births, representing the most common SCA. Affected males have androgen deficiency, which affects endocrine, central nervous system, and neurodevelopmental function. Characteristics include increased height, clinodactyly of the fifth finger, pes planus, and hypogonadism manifesting as …

Heterozygous variants in SPTBN1 cause intellectual disability and autism.

Spectrins are common components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, allowing proper localization of essential membrane proteins, signal transduction, and cellular scaffolding. Spectrins are assembled from α and β subunits, encoded by SPTA1 and SPTAN1 (α) and SPTB, SPTBN1, SPTBN2, SPTBN4, and SPTBN5 (β). Pathogenic variants in various spectrin genes are associated with erythroid cell disorders (SPTA1, SPTB) and neurologic disorders (SPTAN1, SPTBN2, and SPTBN4), but no phenotypes have been definitively associated with variants in SPTBN1 or SPTBN5. Through exome sequencing and case matching, we identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities). Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset. Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis. Our findings support the essential roles of SPTBN1 in human neurodevelopment and expand the knowledge of human spectrinopathy disorders.