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Purpose: The main aim of this systematic review was to investigate the possible association between hearing loss [and/or history of otitis media with effusion (OME)] and learning difficulties in children. Secondary aims were to: (i) investigate if deaf and hard of hearing (DHH) children with learning difficulties might show different clinical and neuropsychological features compared with those with other neurodevelopmental disorders; (ii) identify possible predictors of learning difficulty in DHH children., Methods: A review was conducted of the scientific literature reported by Pubmed, Cochrane and Scopus databases. The following inclusion criteria were used: (i) studies published after 2000; (ii) studies conducted considering subjects with age < 18 years; (iii) studies considering patients who showed both learning difficulties and hearing loss and/or episodes of OME; (iv) articles written in English. The exclusion criteria were: (i) presence in the studied cohort of any other proven comorbidities, other than hearing loss and/or OME; (ii) non-original studies., Results: A total of 924 studies were identified. Four were reviewed after applying the above criteria. From their analysis it emerged that: (i) children with hearing loss who had undergone a diagnostic and rehabilitation program before 6 months of age had better levels of K readiness and language and literacy skills compared to those who had undergone it after 6 months; (ii) higher frequency of episodes of OME and the presence of a conductive hearing loss during the period of language acquisition was associated to lower scores in reading skills; (iii) reading difficulties found in subjects with hearing loss had similar characteristics to those with language difficulties., Conclusions: There is a dearth of information about this topic. Further investigations are therefore necessary on children of various ages with hearing loss to disclose learning difficulties in reading and writing abilities using current diagnostic tools., Competing Interests: Declaration of competing interest The authors declare no potential conflict of interest., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

In the healthcare domain, diagnostic overshadowing is a concerning issue involving the erroneous attribution of physical symptoms to a patient's mental health, behavioural intricacies, or pre-existing disabilities. Individuals facing learning and communication challenges are particularly susceptible to this phenomenon, struggling to articulate or comprehend their experienced symptoms. Likewise, patients with autism spectrum disorder can have an escalated risk due to possible challenges in interpreting bodily cues. This article delves into the specialised care required for individuals with learning disabilities and/or autism, highlighting the pervasive risk of diagnostic overshadowing and the potential manifestation of pain as self-injurious behaviour in these patient groups. By underscoring the need to mitigate diagnostic overshadowing within dental practice, we advocate for reasonable adjustments in care delivery and comprehensive education of the dental team. Proficient tools for pain assessment and effective communication are emphasised to collectively improve the healthcare experience for these vulnerable patient cohorts., (© 2024. The Author(s), under exclusive licence to the British Dental Association.)

Objectives: Adults who have learning disabilities are a vulnerable group, little is known about their oral health and how this affects their quality of life. The aims of this secondary analysis of data from the 2009 Adult Dental Health Survey (ADHS) were to describe the oral health status of adults with learning disabilities, determine if severity of learning disability is associated with oral health and identify some of the methodological complexities of working with this population. The survey yields the most recent representative data on the oral health of adults with learning disabilities in England and importantly, contains information about oral health related quality of life (OHRQoL)., Basic Research Design: Secondary analysis of data from a supplemental survey of adults with learning disabilities collected alongside the 2009 ADHS., Participants: 607 participants with a diagnosed learning disability aged 18 years and over., Results: Adults with learning disabilities had similar levels of active dental caries, fewer natural teeth, and fewer fillings than comparable participants from the general population. Self-reported oral and general health were worse for adults with learning disabilities than the general population. Possible associations between the severity of learning disability and the numbers of decayed, missing or filled teeth were identified. However, large amounts of missing data limited the analysis., Conclusions: There are important questions relating to the accessibility of existing self-reported oral health questionnaires and the reliability of proxy-reported questions about OHRQoL that should be addressed to give a fuller picture of the oral health of adults with learning disabilities., (Copyright© 2024 Dennis Barber Ltd.)

Purpose: To describe positive mental health, or "flourishing," and self-reported health trajectories among transition-aged young adults (TAYA) with developmental/learning and physical disabilities over a 12-year period, utilizing a population-based sample., Methods: This study features a secondary analysis of national data from the Panel Study of Income Dynamics Transition to Adulthood Supplement. The analytic sample included all TAYA with (n = 487) and without (n = 810) disabilities, including developmental/learning disabilities (DD/LD), attention deficit hyperactivity disorder (ADHD), and speech, hearing, and vision impairments who participated in 2017 Transition to Adulthood Supplement data collection (n = 1,297; M age = 24.5, standard deviation = 2.40). We utilized linear mixed modeling to retrospectively describe flourishing and self-reported health trajectories across 12 years among TAYA with and without disabilities between ages 18 to 28, adjusting for demographic and developmental characteristics., Results: Relative to TAYA without disabilities, TAYA with speech [0.10, 0.85] and vision impairments [0.10, 0.92], DD/LD [0.38, 1.11], and ADHD [0.27, 0.97] demonstrated lower flourishing. TAYA with speech [0.07, 0.36] and vision impairments [0.08, 0.38], DD/LD [0.15, 0.411], and ADHD [0.14, 0.93] reported lower health. Relative to TAYA with other disabilities, TAYA with ADHD [0.14, 0.93] and DD/LD [0.01, 0.29] reported lower flourishing and health, respectively. Interaction effects and descriptive analyses revealed distinct patterns of change for TAYA with ADHD., Discussion: TAYA with disabilities report lower flourishing and health, relative to TAYA without disabilities. TAYA with specific disabilities differ in their flourishing and health trajectories. Findings can inform the development of interventions for TAYA with disabilities., (Copyright © 2023 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.)

Importance: Previous studies suggest that atopic dermatitis (AD) is associated with cognitive impairment in children, but these studies have relied primarily on neurodevelopmental diagnoses (rather than symptoms) as proxy measures of cognitive function. It remains unknown if certain subpopulations of children with AD are at greater risk of cognitive impairment., Objective: To examine the association of AD with symptoms of cognitive impairment (difficulty in learning or memory) among US children and whether this association varies according to the presence or absence of neurodevelopmental comorbidities (attention-deficit/hyperactivity disorder [ADHD], developmental delay, or learning disability)., Design, Setting, and Participants: This cross-sectional study used 2021 data from the US National Health Interview Survey collected on children aged 17 years or younger without intellectual disability or autism. The presence of AD was based on a parent or adult caregiver's report indicating either a current diagnosis of AD or a previous medical confirmation of AD by a health care professional., Main Outcomes and Measures: Difficulty with learning or memory as reported by the child's caregiver., Results: Among the weighted total of 69 732 807 participants, 9 223 013 (13.2%) had AD. Compared with children without AD, children with AD were more likely to experience difficulties with learning (10.8% [95% CI, 7.8%-15.8%] vs 5.9% [95% CI, 5.1%-6.9%]; P < .001) and difficulties with memory (11.1% [95% CI, 8.0%-15.9%] vs 5.8% [95% CI, 4.9%-6.9%]; P < .001). In multivariable logistic regression models adjusted for sociodemographic factors, asthma, food allergies, and seasonal allergies or hay fever, AD was associated with increased odds of difficulties in learning (adjusted odds ratio [AOR], 1.77; 95% CI, 1.28-2.45) and memory (AOR, 1.69; 95% CI, 1.19-2.41). In analyses stratified by neurodevelopmental comorbidities, AD was associated with 2- to 3-fold greater odds of memory difficulties among children with any neurodevelopmental disorder (AOR, 2.26; 95% CI, 1.43-3.57), including ADHD (AOR, 2.90; 95% CI, 1.60-5.24) or learning disabilities (AOR, 2.04; 95% CI, 1.04-4.00). However, AD was not associated with learning or memory difficulties among children without neurodevelopmental conditions., Conclusions and Relevance: Results of this cross-sectional study suggest that pediatric AD was generally associated with greater odds of reported difficulties in learning and memory. However, this association was primarily limited to children with neurodevelopmental comorbidities, such as ADHD or learning disabilities. These findings may improve the risk stratification of children with AD for cognitive impairments and suggest that evaluation for cognitive difficulties should be prioritized among children with AD and neurodevelopmental disorders.

Schizophrenia is associated with early neurodevelopmental disorders, including most frequently learning disorders (LD), among them dyslexia and dyspraxia. Despite the demonstrated links between schizophrenia and LD, specific clinical patterns of the schizophrenia with a history of LD subgroup remain unknown. The aim of the present study was to investigate cognitive impairment, symptoms and functional outcome associated with a history of LD in a large cross-sectional, multicentric, sample of schizophrenia subjects. 492 community-dwelling subjects with schizophrenia (75.6% male, mean age 30.8 years) were consecutively included in the network of the FondaMental Expert Centers for Schizophrenia in France and received a thorough clinical assessment. The 51 (10.4%) subjects identified with a history of LD had significantly impaired general cognitive ability (Wechsler Adult Intelligence Scale Full Scale Total IQ: Cohen's d = 0.50, p = 0.001), processing speed (d = 0.19), verbal comprehension (d = 0.29), working memory (d = 0.31), cognitive inhibition and flexibility (d = 0.26), central executive functioning (d = 0.26), phonemic verbal fluency (d = 0.22) and premorbid intellectual ability (d = 0.48), as well as with a worse functional outcome (Global Assessment of Functioning, d = 0.21), independently of age, sex, education level, symptoms, treatments, and addiction comorbidities. These results indicate that a history of LD is associated with later cognitive impairment and functional outcome in schizophrenia. This suggests that history of LD is a relevant clinical marker to discriminate subgroups of patients with schizophrenia with different profiles in a precision psychiatry framework., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)

Purpose: This study investigated the effects of Sketch and Speak strategy intervention on expressive and receptive expository discourse for adolescents with language-related learning disabilities (LLD)., Method: Three participants completed baseline and twelve 45- to 60-min individual treatment sessions in a multiple-baseline across participants design. In treatment, participants learned to take notes using pictography and conventional bulleted notes, orally generate sentences from their notes, and orally practice full sentences and oral reports. Session tests with varied levels of instructional support were used to collect outcome data on free-recall oral reports, short-answer question responses, and participant notes. A distal, age- referenced expository task and social validity questionnaires were administered pre-/postintervention., Results: Visual and statistical analyses revealed significant effects of treatment on the primary outcome measure of Oral Report Quality and on secondary outcomes of Note Quantity and Quality. There was no significant effect of treatment on Short-Answer Recall questions. Two participants generalized strategies during the treatment phase to independent performance on Oral Reports and one improved on Note Quality. All three participants improved on the distal expository measure. Social validity questionnaires showed participant awareness and buy-in of taught strategies, with potential for generalization at the high school level., Conclusions: These adolescent students benefited from explicit instruction in note-taking strategies and systematic oral practice of expository discourse even within the challenging delivery setting of telepractice. This study provides evidence for the use of Sketch and Speak expository intervention with adolescents with LLD to improve comprehension and expression of grade-level material., Supplemental Material: https://doi.org/10.23641/asha.23681505.

Competing Interests: Competing interests: None declared.

Background: Studies have shown that young maternal age at childbirth can increase the risk of attention-deficit/hyperactivity disorder (ADHD) in offspring, but a study of the U.S. population has not been reported. Moreover, there is no reported research on young and advanced maternal age at childbirth and whether it can contribute to the risk of learning disability (LD) in offspring., Methods: This study evaluated the association between young and advanced maternal age at childbirth and offspring risk of ADHD and LD in the U.S. population. Using data from 8,098 participants included in the National Health and Nutrition Examination Survey (NHANES) conducted in 1999-2004, we analyzed the association between maternal age at childbirth and ADHD and LD risk in offspring. Odds ratios (ORs) and 95% confidence intervals (CIs) for maternal age at childbirth in association with ADHD and LD risk in offspring were estimated using multivariate logistic regression models after adjustment for age, sex, race, body mass index (BMI), poverty income ratio, smoking status during pregnancy, and NHANES cycle. Restricted cubic spline (RCS) models were used to evaluate potential non-linear relationships. Sensitivity analyses were performed to ensure the reliability of the results., Results: Among all participants, the offspring of subjects with a maternal age at childbirth of 18-24 years had an increased risk of ADHD (OR = 1.34, 95% CI: 1.01, 1.79) and LD (OR = 1.36, 95% CI: 1.06, 1.79) or either ADHD or LD (OR = 1.48, 95% CI: 1.20, 1.81). Additionally, compared with subjects with a maternal age at childbirth of 25-29 years, subjects with a maternal age at childbirth of 35-39 years had lower odds of having offspring with ADHD (OR = 0.60, 95% CI: 0.36, 1.00) and higher odds of having offspring with LD (OR = 1.34, 95% CI: 1.01, 1.78). The relationship between maternal age at childbirth and LD risk presented a U -shaped curve., Conclusions: These results provide epidemiological evidence showing that young and advanced maternal age at childbirth are associated with ADHD and LD risk., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Gao, Li, Yue and Long.)

Limited evidence exists concerning how a diagnosis of attention-deficit hyperactivity disorder and/or learning disabilities (ADHD/LD) modifies recovery and behavior following sport-related concussion (SRC). To understand how ADHD/LD modifies the post-SRC experience, we conducted a retrospective cohort study of concussed young athletes through phone interviews with patients and guardians. Outcomes included time until symptom resolution (SR) and return-to-learn (RTL), plus subjective changes in post-SRC activity and sports behavior. Multivariate Cox and logistic regression was performed, adjusting for biopsychosocial characteristics. The ADHD/LD diagnosis was independently associated with worse outcomes, including lower likelihood to achieve SR (hazard ratio [HR] = 0.62, 95% confidence interval [CI] = [0.41-0.94]; P = .02) and RTL (HR = 0.55, 95% CI = [0.36-0.83]; P < .01) at any time following injury, and increased odds of changing sport behavior after concussion (odds ratio [OR] = 3.26, 95% CI = [1.26-8.42], P = .02), often to a safer style of play (62.5% vs 39.6%; P = .02) or retiring from the sport (37.5% vs 18.5%; P = .02). These results provide further evidence of the unique needs for athletes with ADHD/LD following SRC.

Background: The Post-Concussion Symptom Scale (PCSS) is a self-report questionnaire measuring symptoms that commonly occur after a concussion; however, these symptoms are nonspecific and can be related to co-occurring orthopaedic injuries (eg, cervical strain) or patient characteristics and preexisting conditions, even in the absence of a recent injury. As such, clinicians may have difficulty determining whether symptom elevations are attributable to a recent concussion as opposed to a confounding injury or a preexisting condition, which may be especially difficult when preinjury baseline symptom data are unavailable., Purpose: This study aimed to further validate the 4-factor model of the PCSS (ie, cognitive, sleep-arousal, physical, and affective symptoms) with adolescent student-athletes and provide normative reference data for each factor and the total score, stratified by gender and preexisting health conditions., Study Design: Cross-sectional study; Level of evidence, 3., Methods: Participants were 9358 adolescent student-athletes who completed the PCSS during a preseason baseline evaluation (mean age, 14.9 years; SD, 1.3 years [range, 13-18 years]; 49.3% boys). The 4-factor model of the PCSS was tested for the full sample and separately for boys and girls using confirmatory factor analysis. Symptom severity percentiles were created for the PCSS total score and each factor, stratified by gender and preexisting conditions (ie, attention-deficit/hyperactivity disorder, mental health history, headache/migraine history, learning disability/dyslexia, academic problems, and concussion history)., Results: The 4-factor model of the PCSS replicated in the full sample (comparative fit index [CFI] = 0.959) and in both gender groups (boys: CFI = 0.961; girls: CFI = 0.960). The total PCSS score at the 84th percentile varied by preexisting conditions as follows: healthy participants = 8, attention-deficit/hyperactivity disorder = 18, mental health history = 26, headache/migraine history = 18, learning disability = 19, and academic problems = 17. On all PCSS subscales, participants with a mental health history had the highest scores, and high scores were associated with having >1 preexisting condition. Girls had higher scores than boys for each stratification., Conclusion: The 4-factor model of the PCSS replicates for adolescent student-athletes. Gender, number of preexisting conditions, and mental health history are important factors to account for when interpreting PCSS symptom severity. The normative data provided herein could assist clinicians in determining whether an adolescent student-athlete is presenting with persistent postconcussion symptoms or a typical symptom experience based on their gender and personal health history.

Background: Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet-Biedl syndrome is diagnosed on the basis of clinical signs and symptoms, which can be confirmed by genetic testing. Here we present four cases of Bardet-Biedl syndrome. To our knowledge, these are the first cases of Bardet-Biedl syndrome reported from Sudan., Case Presentation: Here, we report four Sudanese patients who presented with a variety of clinical manifestations of Bardet-Biedl syndrome (two males, 50 and 16 years old; two females, 38 and 18 years old). The first two patients presented with features of chronic kidney disease. The third patient had recently been diagnosed with type 1 diabetes and diabetic ketoacidosis. The fourth patient showed signs of retinal dystrophy early on. Case 1: a 38-year-old female presented with vomiting and irritability; the patient was diagnosed with Bardet-Biedl syndrome as she fulfilled six items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, renal abnormalities, learning disabilities, and genitourinary malformations), as well as one secondary feature (cardiovascular involvement, that is, left ventricular hypertrophy). Case 2: a 50-year-old male presented with fatigability; the patient was diagnosed with Bardet-Biedl syndrome as he fulfilled four items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, and renal abnormalities) in addition to two secondary features (diabetes mellitus and cardiovascular involvement, that is, left ventricular hypertrophy). Case 3: an 18-year-old female presented with polyuria, polydipsia, weight loss, and epigastric pain for 2 days; the patient was diagnosed with Bardet-Biedl syndrome because he had four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) in addition to three secondary features (developmental delay, diabetes mellitus, and strabismus). Case 4: a 16-year-old male presented with a blurring of vision; the patient was diagnosed with Bardet-Biedl syndrome as he exhibited four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) plus two secondary features (developmental delay and cataract)., Conclusion: The scarcity of Bardet-Biedl syndrome necessitates a high index of suspicion to diagnose this syndrome. Increased awareness among physicians is required for the early diagnosis and treatment of Bardet-Biedl syndrome and to avoid complications and mortality., (© 2022. The Author(s).)

Evidence suggests neurodevelopmental disorders (NDs) may be associated with an increased incidence of concussion, but no studies have cross-sectionally and longitudinally assessed the associations of NDs and sex with concussion in collegiate athletes. We sought to assess the odds and relative risk (RR) of concussion in athletes self-reporting a diagnosis of attention deficit/hyperactivity disorder (ADHD), learning disability (LD), and ADHD+LD. Data from the Concussion Assessment, Research and Education (CARE) Consortium (2014-2017) were used to evaluate the likelihood of concussion for male and female athletes with ADHD, LD, and ADHD+LD, relative to controls. Odds ratios (ORs) of concussion history prior to enrollment and relative risk ratios for incurring a concussion following enrollment, with and without concussion history were calculated for all groups. Athletes with self-reported diagnosis of ADHD, LD, and ADHD+LD were more likely to report a single concussion (OR range = 1.528 to 1.828) and multiple concussions (OR range = 1.849 to 2.365) prior to enrollment in the CARE Consortium, irrespective of sex compared with control athletes. While enrolled in CARE, male athletes with ADHD, LD, and ADHD+LD had greater risk of incurring a concussion (RR range = 1.369 to 2.243) than controls, irrespective of concussion history. Male athletes with ADHD+LD with concussion history (RR = 2.221) and without concussion history (RR = 1.835) had greater risk of incurring a concussion than controls. These results suggest NDs may be associated with increased odds of single and multiple concussions, irrespective of sex. However, when we accounted for concussion history, it appears only male athletes with ADHD+LD had greater risk than respective controls. There were no significant differences between females and males with ADHD, LD, or ADHD+LD for either odds of concussion history or risk for incurring concussion.

Neurofibromatosis type-1 (NF1) is a genodermatosis frequently encountered in general dermatology. In many patients, the diagnosis of NF1 is made clinically based on the presence of café-au-lait macules and skinfold freckling, as well as plexiform neurofibromas detectable during early childhood. Later in life, cutaneous neurofibromas often represent important diagnostic features. NF1 is characterized by extreme clinical variability and a broad heterogeneity of NF1 gene mutations which impede genotype/phenotype correlations. Notable exceptions are NF1 microdeletions observed in 5-11 % of all NF1 patients. Patients with NF1 microdeletions frequently exhibit facial dysmorphic features and a tall stature as rather specific clinical signs. Furthermore, cutaneous and subcutaneous neurofibromas present at an early age, severe global developmental delay and cognitive disability are pathognomonic for the "NF1 microdeletion syndrome". Importantly, NF1 microdeletions are associated with an approximately twofold higher risk for malignant peripheral nerve sheath tumors than intragenic NF1 gene mutations. The severe clinical manifestations of patients with NF1 microdeletions require early multidisciplinary clinical care and frequent tumor surveillance. Therefore, when red flag features for the "NF1 microdeletion syndrome" are present in a patient, genetic testing is necessary to confirm or exclude an NF1 microdeletion., (© 2022 The Authors. Journal der Deutschen Dermatologischen Gesellschaft published by John Wiley & Sons Ltd on behalf of Deutsche Dermatologische Gesellschaft.)

Background: Primary headaches (H) and learning disabilities (LD) are frequent in childhood and can coexist in the same subject, but their correlation is not always clear. The aim of our study was to evaluate this relationship considering also any psychopathologies and their influence on the quality of life by considering an aspect such as school absences., Methods: One hundred and ninety-three children (8-18y) with H and LD assessed consecutively at the Headache Center of L'Aquila, from 2013 to 2018 are the sample. School problems were evaluated by Italian batteries for LD; psychopathology screening by clinical interview and SAFA test. The sample was divided into 3 groups (group 1: patients with H [N.=122], group 2: patients with LD [N.=37], group 3: patients with H+LD [N.=34]) in order to compare subjects with H and LD vs. subjects having only one disorder., Results: The most prevalent headache diagnosis was migraine without aura, but chronic tension headache (CTH) showed a stronger impact on quality of life. LD have a higher prevalence in our sample (9.44%) than in general Italian population (3.2%). In group 3 was higher prevalence of anxiety disorders (P=0.050) and 50% of patients with CTH was absent from school due to headache., Conclusions: LD can be related to headache chronicization and to a higher prevalence of psychopathologies and school absences, so an early diagnosis of LD in patients with H is crucial to prevent the worsening of the headache itself and of quality of life.

Objective: Examine pre-existing learning disorders (LD) and attention deficit/hyperactivity disorders (ADHD) as risk factors for prolonged recovery and increased symptomology following pediatric mild traumatic brain injury (mTBI)., Methods: We conducted a retrospective cohort study of children/adolescents (5-17 years) with mTBI who presented to a Children's Minnesota Concussion Clinic between April 2018 and March 2019. Differences across strata of pre-existing conditions (present vs. absent) in time to recovery measures were estimated via Kaplan-Meier and Cox proportional hazards analyses and differences in symptom trajectories were examined via linear mixed-effects regression models. Regression models were adjusted for age, sex and other confounders., Results: In our cohort of 680 mTBI patients, those with LD (n = 70) or ADHD (n = 107) experienced significantly longer median durations of symptoms (58 and 68 days, respectively) than those without (43 days). Accordingly, LD was significantly associated with delayed symptom recovery (adjusted hazard ratio (aHR) = 1.63, 95% CI: 1.16-2.29), return to school (1.47, 1.08-2.00), and return to physical activity (1.50, 1.10-2.04). Likewise, ADHD was associated with delayed recovery (1.69, 1.28-2.23), return to school (1.52, 1.17-1.97) and physical activity (1.55, 1.19-2.01). Further, patients with LD or ADHD reported, on average, significantly more concussion symptoms and higher vision symptom scores throughout recovery versus those without. There was no evidence that concussion or vision symptom recovery trajectories varied over time between those with/without LD or ADHD (joint P-interactions > 0.05)., Conclusion: Pre-existing LD and ADHD are risk factors for prolonged and more symptomatic mTBI recovery in youth. These results can inform clinical concussion management and recovery expectations.

Concurrence of distinct genetic conditions in the same patient is not rare. Several cases involving neurofibromatosis type 1 (NF1) have recently been reported, indicating the need for more extensive molecular analysis when phenotypic features cannot be explained by a single gene mutation. Here, we describe the clinical presentation of a boy with a typical NF1 microdeletion syndrome complicated by cleft palate and other dysmorphic features, hypoplasia of corpus callosum, and partial bicoronal craniosynostosis caused by a novel 2bp deletion in exon 2 of Meis homeobox 2 gene (MEIS2) inherited from the mildly affected father. This is only the second case of an inherited MEIS2 intragenic mutation reported to date. MEIS2 is known to be associated with cleft palate, intellectual disability, heart defects, and dysmorphic features. Our clinical report suggests that this gene may also have a role in cranial morphogenesis in humans, as previously observed in animal models., (Copyright © 2021 Elsevier Masson SAS. All rights reserved.)

Objective: The term apraxia is clearly understood in adult behavioral neurology, with assessment of gesture central to the diagnosis. In contrast, the concept of "developmental dyspraxia" has been more problematic. In an effort to better specify its potential significance, we describe preliminary practice-based evidence for understanding developmental dyspraxia acquired within a theoretical framework informed by both adult behavioral neurology and a neuroconstructivist appreciation of neurodevelopmental disorders. Specifically, we describe the experience of a diagnostic clinic for children with learning disorders that adopted this framework and compare clinical characteristics of children diagnosed with dyspraxia with those of children diagnosed with dyslexia during the same time period., Method: The dyspraxia diagnosis was based on the presence of impaired gesture and/or cognitive problems with planning. Over the target period, 71 children were diagnosed with dyspraxia and 114 children were diagnosed with dyslexia. Twenty-nine of the 71 children with dyspraxia were also diagnosed with dyslexia. Domains assessed included early developmental milestones, neurologic findings, cognition, speech and language, academic skills, and psychosocial functioning., Results: Compared to the dyslexia group, children with dyspraxia (with or without dyslexia) had more problems with speech and language planning and planning in everyday life. Children with dyspraxia without dyslexia had more frequent early motor delays and deficits in visuospatial production than the other groups. The dyslexia groups predictably demonstrated poorer single word reading and phonologic processing compared to the dyspraxia only group (all P < .01)., Conclusions: A neurologic finding of impaired gesture in children with learning disorders may signal a broader neurodevelopmental profile of developmental dyspraxia with both theoretical relevance and meaningful implications for evaluation and treatment. Cognitive problems with planning are particularly relevant.

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant a multisystem genetic disorder that primarily involves the skin and the nervous system. The incidence of the disease is 1:3000-4000 live-born children, equally in both sexes. The diagnosis of NF1 is determined individually with any two of the following clinical features: café-au-lait spots, intertriginous freckling, Lisch nodules, neurofibromas, optic glioma, distinctive bone lesions and first-degree family relative with NF1. NF1 is a disease most commonly diagnosed and treated by neuropediatricians., Results: Cognitive and behavioral disorders affect between 50-80% of all children with NF1. Children with NF1 show impairments in attention, visual perception, language, executive function, academic skills, and behavior. This requires a multidisciplinary approach to the treatment s as seen in the case we present. Furthermore, NF1 is often associated with psychiatric disorders, which are more frequent in this disease than in general population, according to some studies even up to 33% patients. Psychiatric disorders are more frequent in NF1 than in the general population, particularly in children. They include dysthymia, depressive mood, anxiety, and personality disorders. Bipolar mood disorders or schizophrenia are rather rare. The majority of studies have focused on physical health and neurocognitive function in NF1, whereas psychiatric disorders associated with this disease remain unclear and poorly documented., Conclusions: We present a case of an eight-year-old boy with behavioural and learning disabilities referred for psychological and psychiatric evaluation as well as an overview of NF-related psychiatric illnesses described in the literature.

Surgery for spinal deformity is complex and preparation involves a wide multidisciplinary team. For young people with learning disabilities, especially those who have behaviour that challenges, there are further considerations to ensure that their hospital stay is a positive experience and all their additional needs are met. Staff and carers need to be well informed and there must be effective communication. Evaluation of one patient's journey through pre-assessment, surgery and rehabilitation has identified the need for more input from learning disability liaison nurses in acute children's services., Competing Interests: None declared, (©2021 RCN Publishing Company Ltd. All rights reserved. Not to be copied, transmitted or recorded in any way, in whole or part, without prior permission of the publishers.)

Background: Some 1.5 million people in the UK have a learning disability (LD). This vulnerable group derives less benefit from population-based education programs. They are prone to underenrolment in screening programs and may lack the ability to perform self-examination., Objective: To identify patients with LD in England and assess their testicular cancer (TC) survival in comparison to the general population., Design, Setting, and Participants: Patient records were identified from the Hospital Episode Statistics database. All patients resident in England with a diagnosis of mental debility, "developmental disorder of scholastic skills", or attending under the specialty of LD between April 1, 2001 and June 30, 2015 were included., Outcome Measurements and Statistical Analysis: We measured survival outcomes according to the Kaplan-Meier method and used log-rank tests to assess survival difference between demographic groups., Results and Limitations: Of 158138 male patients with LD, 331 had TC and 32 died of cancer. LD patients had a poorer prognosis, with 10-yr TC-specific survival of 88.4% (95% confidence interval [CI] 84.5-92.4%) in the LD group versus 96.8% (95% CI 96.6-97.1%) in the non-LD group. LD patients also had lower all-cause survival rates. The 10-yr survival rate was 77.6% (95% CI 72.2-83.3%) for LD patients versus 89.9% (95% CI 89.4-90.3%) for non-LD patients, while the corresponding 5-yr rates were 84% (95% CI 79.9-88.4%) versus 92.2% (95% CI 91.8-92.5%)., Conclusions: Education regarding self-examination for TC must be provided in a format suitable for those with LD. Carers for male patients with LD should be informed about testicular examination and sinister signs., Patient Summary: Testicular cancer patients who also have a learning disability (LD) have a one in nine chance of dying, compared to a one in 36 chance for testicular cancer patients without LD. This is because patients with LD are less likely to detect the disease at an earlier stage., (Copyright © 2018. Published by Elsevier B.V.)

Attention deficit/hyperactivity disorder-predominantly inattentive presentation (ADHD-I) and specific learning disorder (SLD) are commonly co-occurring conditions. Despite the considerable diagnostic overlap, the effect of SLD comorbidity on outcomes of behavioral interventions for ADHD-I remains critically understudied. The current study examines the effect of reading or math SLD comorbidity in 35 children with comorbid ADHD-I+SLD and 39 children with ADHD-I only following a behavioral treatment integrated across home and school (Child Life and Attention Skills [CLAS]). Pre- and posttreatment outcome measures included teacher-rated inattention, organizational deficits, and study skills and parent-rated inattention, organizational deficits, and homework problems. A similar pattern emerged across all teacher-rated measures: Children with ADHD-I and comorbid ADHD-I+SLD did not differ significantly at baseline, but between-group differences were evident following the CLAS intervention. Specifically, children with ADHD-I and comorbid ADHD-I+SLD improved on teacher-rated measures following the CLAS intervention, but children with ADHD-I only experienced greater improvement relative to those with a comorbid SLD. No significant interactions were observed on parent-rated measures-all children improved following the CLAS intervention on parent-rated measures, regardless of SLD status. The current results reveal that children with ADHD-I+SLD comorbidity benefit significantly from multimodal behavioral interventions, although improvements in the school setting are attenuated significantly. A treatment-resistant fraction of inattention was identified only in the SLD group, implying that this fraction is related to SLD and becomes apparent only when behavioral intervention for ADHD is administered.

The current study examined whether perceived social support mediated the effects of loneliness and self-efficacy on well-being among students with or without a learning disability (LD). Participants included 834 elementary, middle, and high school students from Israel (29.6% students with LDs) who completed self-report questionnaires. The results of structural equation modeling indicate that social support mediates the indirect effects of age, gender, loneliness and self-efficacy on well-being. In addition, the results show differences between groups, as non-LD girls noted a higher self-efficacy and well-being than boys, and well-being had indirect effects in the non-LD group than in the LD group. These results indicate students with LDs have a unique social-emotional profile that affects their well-being. The study highlights the importance of enhancing self-efficacy and reducing loneliness in order to increase social support, thus predicting positive well-being. Effective and practical educational programs are needed for both groups across age and gender.

One of the basic tasks performed by a neuropsychologist is to identify the difference between current performance and the premorbid expected performance. Baseline expected performance for Intellectually Impaired ( n  = 21), Developmentally Delayed ( n  = 40), Attention Deficit Disorder ( n  = 98), Learning Disability ( n  = 42), and "Normal" groups ( n  = 75) were developed along with a demographically corrected prediction of premorbid functioning and a word reading based prediction of premorbid functioning. We utilized a subset of this data pool for development ( n  = 107) and validation ( n  = 108) of premorbid functioning estimates. Findings show that a combination of three methods (baseline, demographic, and reading) were superior to any individual method. The effect size (Cohen's d) calculations show that differences in the prediction of domain level performances were small and likely not clinically meaningful, indicating that the premorbid estimates would be usable as a prediction of expected performance at the domain level. However, the motor domains were not well predicted.

Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders, resulting from a wide spectrum of mutations in the NF1 gene. The NF1 microdeletion syndrome is characterized by a more severe clinical presentation than the majority of NF1 patients, with facial dysmorphic features, cognitive impairment, developmental delay, early-onset neurofibromas, and an increased risk of malignant tumors. This report provides the phenotypical characterization of a young boy diagnosed with this syndrome.

Many children in the United States are performing below basic standards in reading, mathematics, and writing. Children at risk for academic problems often have comorbid classroom behavior problems and/or are diagnosed with high-incidence disabilities. Early intervention to prevent academic problems is a key goal of school-wide response-to-intervention models. The goal of school-based instructional intervention is to increase children's strength of responding so basic academic skills can be combined to solve more complex tasks. Parents and caregivers can support intervention efforts at school by engaging in frequent communication with student assistance teams and helping children with academic work completion at home., Competing Interests: Disclosure The authors have nothing to disclose., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Objective: Identifying personal characteristics associated with sustaining a concussion is of great interest, yet only a few have examined this in children. The purpose of this study was to examine the association between sex, neurodevelopmental disorders, health history, and lifetime history of self-reported concussion in 12- and 13-year-old athletes., Design: Cross-sectional study., Setting: Middle schools., Participants: Participants were 1744 twelve- and thirteen-year-old student athletes who completed preseason Immediate Post-Concussion Assessment and Cognitive Testing (ImPACT) testing, including a self-report questionnaire about previous concussions, developmental diagnoses, and previous medical treatment., Independent Variables: Age, sex, attention-deficit/hyperactivity disorder (ADHD), learning disabilities (LDs), and previous treatment for migraine., Main Outcome Measures: Self-reported history of concussion., Results: A minority of athletes (13.7%) reported previous concussions (1 concussion, n = 181; 2 concussions, n = 41; and 3+ concussions, n = 17). A small proportion reported a history of ADHD (4.4%), LD (2.8%) or migraine treatment (4.0%). Higher rates of self-reported previous concussions were associated with male sex [16.9% vs 9.1%; χ(1) = 21.47, P < 0.001] and previous migraine treatment [31.9% vs 13.0%; χ(1) = 20.08, P < 0.001]. There were no differences in self-reported concussion history between 12- and 13-year olds (P = 0.18) and those with/without ADHD (P = 0.41) or LDs (P = 0.06). The overall logistic regression model was statistically significant [χ(5) = 42.01, P < 0.001] but explained only 4.3% of the variance. Previous treatment for migraine [P < 0.001, Exp(B) = 3.30] and male sex [P < 0.001, Exp(B) = 2.06] were independently associated with a self-reported concussion history, whereas age, LD, and ADHD were not (P's > 0.05)., Conclusions: Male sex and previous migraine treatment were associated with higher rates of self-reported previous concussions in both independent and multivariate models in middle school athletes, whereas age, ADHD, and LDs were not.

Objective: Caregivers of a child with a coexisting cognitive/intellectual and an emotional/behavior/developmental disability have difficult decisions regarding care management options for their child. This study aimed to pilot and refine an instrument to elicit caregivers' preferences in managing their child's care needs., Methods: Subjects were 38 caregivers of a child aged 21 and younger with a coexisting cognitive/intellectual and an emotional/behavior/developmental disability. A mixed-methods design was used to develop and pilot a discrete choice experiment (DCE) to elicit care management preferences for their child. Six attributes of care management decisions were tested in the DCE: medication use, parental custody, time cost, social interactions, medication effects, and school placement. Subjects completed a paper-and-pencil survey after which a debriefing discussion was held to obtain feedback that would aid in refining the attribute descriptions. Conditional logistic regression generated mean scores for each attribute. Comments from the debriefing sessions were audio-recorded and used to modify the attribute descriptions., Results: The majority (84%) of subjects were aged 40 years or older and a female caregiver. Common diagnoses of the children were autism spectrum disorder (55%) and attention-deficit/hyperactivity disorder (76%). Subjects preferred using fewer medications and maintaining decision-making authority as opposed to delegating authority to a third party. Medication effects on the child's mood were more important than effects on personality or body weight., Conclusions: The DCE was sensitive to caregivers' preferences for managing their child's coexisting cognitive/intellectual and emotional/behavior/developmental disability. Findings may help providers gauge treatment in a broader context of health outcomes., (Copyright © 2019 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.)

Introduction: Medical students who are diagnosed with a specific learning difficulty (SpLD) will typically receive a reasonable adjustment within examinations in the form of modified assessment provision (MAP). This study investigated whether the timing of SpLD diagnosis and subsequent implementation of MAP has an impact on performance in applied medical knowledge multiple choice question (MCQ) assessments., Method: The MCQ performance of 108 students diagnosed with SpLD who received a MAP was monitored and compared with 1960 students who received an unmodified assessment, over 5 years of a medical program. Students who received a SpLD diagnosis in the latter years of the program were identified as not receiving a MAP in assessments prior to diagnosis., Results: Differences were found between declaration and diagnosis, with 44.4% of students who declared and 48.1% who did not declare subsequently receiving a diagnosis. Students with SpLD who receive a MAP increase their applied medical knowledge assessment performance, although there is a delay of up to a year for this impact to reach significance., Conclusion: Early diagnosis of SpLD is necessary to ensure the intended benefit is received from MAP.

Objectives: In 2018, routine data of the five year outcomes from a cohort of 46 children, (18 PMLD and 28 SLD, including nine SLD children with an additional diagnosis of ASD), was analysed to investigate the type and amount of benefit provided by cochlear implantation and to examine any differences in outcome patterns across the populations. Methods: The level of functional sound processor use achieved over time was reviewed in relation to listening and spoken language outcomes, alongside social engagement, communicative and cognitive development. The extent to which children were able to close the gap between their overall development and their listening abilities was quantified. The outcomes of the children with an additional diagnosis of ASD, was compared to those of the SLD population as a whole. Results: Although equipment management presented long term challenges, after five years, 80% of children were able to attach some meaning to sound. Children with SLD acquired more auditory skills and spoken language than those with PMLD. Most of the children used a mix of augmentative and alternative communication approaches (AAC), with 7%, all SLD children, acquiring some simple spoken language. An additional diagnosis of ASD had a negative effect on outcomes. Discussion: For 80% of the patients, the provision of cochlear implants provided benefits, although changes were slow to develop and required high levels of adult persistence. Conclusion: Outcomes measures which are population specific and acknowledge challenges, alongside providing ways to recognise individual achievements, by matching them against individual capacity, are of great value to families and practitioners.

Background: Communication, behavioural, and executive function problems often co-occur in childhood. Previous attempts to identify the origins of these comorbidities have typically relied on comparisons of different deficit groups and/or latent variable models. Here we apply a network approach to a heterogeneous sample of struggling learners to conceptualise these comorbidities as a dynamic system of interacting difficulties., Methods: 714 children struggling with attention, learning, and/or memory were included. The sample consisted of children with both diagnosed (41%) and undiagnosed difficulties. The conditional independence network of parent ratings of everyday behaviour, cognition, and communication was estimated., Results: A clustering coefficient identified four interconnected areas of difficulty: (1) structural language and learning; (2) pragmatics and peer relationships; (3) behavioural and emotional problems; and (4) cognitive skills. Emotional and behavioural symptoms shared multiple direct connections with pragmatic abilities and cognitive problems, but not with structural language skills or learning problems. Poor structural language and cognitive skills were associated with learning problems. Centrality indices highlighted working memory and language coherence as symptoms bridging different problem areas., Conclusion: The network model identified four areas of difficulty and potential bridging symptoms. Although the current analytic framework does not provide causal evidence, it is possible that bridging symptoms may be the origins of comorbidities observed on a dimensional level; problems in these areas may cascade and activate problems in other areas of the network. The potential value of applying a dynamic systems network approach to symptoms of developmental disorders is discussed.

Background: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population., Case Presentation: We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus foot, mild generalized hypotonia, hyperactivity and deficits of speech-related abilities. NF1 genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole NF1 gene. Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4), including NF1. Patient 2 showed growth and developmental delay, supravalvular pulmonary stenosis, twenty-five café-au-lait spots, axillary freckling, craniofacial dysmorphic features, short neck with pterygium, limb abnormalities and foci of neural dysplasia on brain magnetic resonance imaging (MRI). MLPA detected an heterozygous deletion of NF1, which was detailed by a-CGH indicating the positions 29,124,299 and 30,326,958 as its breakpoints, and which included aside from the genes deleted in Patient 1 also COPRS, UTP6 and partially SUZ12. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletions in both cases., Conclusions: The present report will likely provide further insights and a better characterization of NF1 microdeletion syndrome.

Objectives: To document the prevalence of hypovitaminosis-D in children with intellectual and movement disorders and to identify the risk factors in vitamin D deficient children., Methods: This is a cross-sectional study on 90 children with neurodevelopmental disabilities. The prevalence of hypovitaminosis-D and the risk factors such as sun exposure, age-appropriate mobility, diet, skin color and anti-epileptic medications were examined in children with cognitive disorders and movement disorders., Results: The mean serum vitamin D level in children with cognitive disability (n = 46) was found to be 26.7 ± 16.3 ng/L and in the children with movement disability (n = 44) it was 27.9 ± 10.5 ng/L. Though the risk factors were found in greater numbers in children in the deficient group (vitamin D < 30 ng/L), the difference between the two groups was not significant. Of the 90 children, 86 (95.5%) had at least one sign of vitamin D deficiency. Lowest levels of vitamin D were seen in autistic spectrum disorder and learning disabilities in the Cognitive Disability group and hemiplegia in the Movement Disability group., Conclusions: The prevalence of vitamin D deficiency in children with neurodevelopmental disabilities was 72.2%, with 76.1% in the cognitive disability group and 68.2% in the movement disability group. The risk factors were more common in vitamin D deficient children.

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.

Objectives: To determine whether implementation of comprehensive in-school eyecare results in measurable benefits for children and young people in terms of visual status, classroom behaviours and how well their visual needs are met., Design: School-based observational study., Participants & Methods: 200 pupils [mean age 10 years 9 months, 70% male, majority moderate (40%) or severe (35%) learning difficulty] of a special education school in the UK. A sector-agreed in-school eyecare framework including full eye examination and cycloplegic refraction, dispensing of spectacles (as appropriate) and written reporting of outcomes to parents/teachers was applied. Classroom behaviours were observed and recorded prior to, and after, the in-school eyecare. Surveys were employed to obtain visual histories from parents/teachers. School records and statutory documents were reviewed for diagnostic and learning disability classifications. Visual function and ocular health were profiled at baseline and significant visual deficits identified. Where such deficits were previously unrecognised, untreated or not compensated for (e.g. correction of refractive error, enlargement of educational material) they were recorded as 'unmet visual need'. At follow-up, 2-5 months after initial (baseline) measures, eye examinations, parent/teacher surveys and behaviour observations were repeated. Follow-up measures were used to determine if measurable improvements were evident in visual function, ocular health, the level of unmet need and classroom behaviour following implementation of in-school eyecare., Results: 199 participants completed baseline and follow-up measures. 122 (61%) participants presented with at least one significant visual or ocular health deficit and 90 (45%) participants had at least one unmet visual need. Younger pupils and those with no previous history of eyecare were more likely to demonstrate unmet visual needs at baseline (OR 1.12 95% CI 1.03 to 1.21) p = 0.012; (OR 4.44 95% CI 1.38 to 14.29 p = 0.007 respectively). On follow-up, the number of pupils with unmet visual needs dropped significantly to 36 (18%) (McNemar's test p<0.001). Visual and behavioural metrics of participants without significant visual deficits or whose visual needs were adequately addressed at baseline remained relatively unchanged between baseline and follow-up (Wilcoxon signed rank p>0.05). Where significant refractive deficits were corrected at follow-up, near visual acuity improved significantly (Wilcoxon signed rank p = 0.013), however, poor spectacle compliance was a persistent cause of unmet visual need. Off-task behaviour reduced significantly after actions to address unmet visual needs were communicated to parents and teachers (Wilcoxon signed rank p = 0.035)., Conclusions: The present study demonstrates for the first time measurable visual and behaviour benefits to children in special education settings when they receive comprehensive in-school eye examinations, on-site spectacle dispensing and jargon-free reporting of outcomes to teachers and parents., Competing Interests: The authors have declared that no competing interests exist.

Objectives: To measure the rates of lower respiratory tract infection (LRTI) and mortality following feeding gastrostomy (FG) placement in patients with learning disability (LD). Following this to compare these rates between those having LRTI prior to FG placement and those with no recent LRTI., Design: Retrospective cohort study., Setting and Participants: The study population included patients with LD undergoing FG placement in the 'The Health Improvement Network' database. Patients with LRTI in the year prior (LYP) to their FG placement were compared with patients without a history of LRTI in the year prior (non-LYP) to FG placement. FG placement and LD were identified using Read codes previously developed by an expert panel., Main Outcome Measures: Incidence rate ratio (IRR) of developing LRTI and mortality following FG, comparing patients with LRTI in the year prior to FG placement to patients without a history of LRTI., Results: 214 patients with LD had a FG inserted including 743.4 person years follow-up. 53.7% were males and the median age was 27.6 (IQR 19.6 to 38.6) years. 27.1% were in the LYP patients. 18.7% had a LRTI in the year following FG, with an estimated incidence rate of 254 per 1000-person years. Over the study period the incidence rate of LRTI in LYP patients was 369 per 1000-person years, in non-LYP patients this was 91 per 1000-person years (adjusted IRR 4.21 (95% CI 2.68 to 6.63) p<0.001). 27.1% of patients died during study follow-up. Incidence rate of death was 80 and 45 per 1000-person year for LYP and non-LYP patients, respectively (adjusted IRR 1.80 (1.00 to 3.23) p=0.05)., Conclusion: In LD patients, no clinically meaningful reduction in LRTI incidence was observed following FG placement. Mortality and LRTI were higher in patients with at least one LRTI in the year preceding FG placement, compared with those without a preceding LRTI., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Recent work in geography has begun to look at the opportunities for care from siblings, friends and neighbours alongside parents and spouses. This paper examines the daily relationships that middle to older age adults with a learning disability have with remaining kin members, friends, and neighbours, within the context of declining formal day services. Adults with learning disabilities are more likely to have different life course experiences and be living on low incomes and in poor housing than the rest of the population as they have had less opportunity to work and save money through their lives. We draw on two qualitative studies with adults with learning disabilities. Findings suggest that friend and kin networks are anything but certain, as opportunities to meet and socialise shrink, and connections with siblings do not necessarily lend themselves to support. The findings raise the possibility of a space of attenuated care to convey the increasingly limited fronts from which support can be derived., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by a core set of atypical behaviors in social-communicative and repetitive-motor domains. Individual profiles are widely heterogeneous and include language skills ranging from nonverbal to hyperlexic. The causal mechanisms underlying ASD remain poorly understood but appear to include a complex combination of polygenic and environmental risk factors. SHANK3 (SH3 and multiple ankyrin repeat domains 3) is one of a subset of well-replicated ASD-risk genes (i.e., genes demonstrating ASD associations in multiple studies), with haploinsufficiency of SHANK3 following deletion or de novo mutation seen in about 1% of non-syndromic ASD. SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density of excitatory synapses. In order to more closely evaluate the contribution of SHANK3 to neurodevelopmental expression of ASD, a knockout mouse model with a mutation in the PDZ domain was developed. Initial research showed compulsive/repetitive behaviors and impaired social interactions in these mice, replicating two core ASD features. The current study was designed to further examine Shank3B heterozygous and homozygous knockout mice for behaviors that might map onto atypical language in ASD (e.g., auditory processing, and learning/memory). We report findings of repetitive and atypical aggressive social behaviors (replicating prior reports), novel evidence that Shank3B KO mice have atypical auditory processing (low-level enhancements that might have a direct relationship with heightened pitch discrimination seen in ASD), as well as robust learning impairments., (Copyright © 2018. Published by Elsevier Ltd.)

Background: A substantial proportion of the school-age population experience cognitive-related learning difficulties. Not all children who struggle at school receive a diagnosis, yet their problems are sufficient to warrant additional support. Understanding the causes of learning difficulties is the key to developing effective prevention and intervention strategies for struggling learners. The aim of this project is to apply a transdiagnostic approach to children with cognitive developmental difficulties related to learning to discover the underpinning mechanisms of learning problems., Methods: A cohort of 1000 children aged 5 to 18 years is being recruited. The sample consists of 800 children with problems in attention, learning and / memory, as identified by a health or educational professional, and 200 typically-developing children recruited from the same schools as those with difficulties. All children are completing assessments of cognition, including tests of phonological processing, short-term and working memory, attention, executive function and processing speed. Their parents/ carers are completing questionnaires about the child's family history, communication skills, mental health and behaviour. Children are invited for an optional MRI brain scan and are asked to provide an optional DNA sample (saliva). Hypothesis-free data-driven methods will be used to identify the cognitive, behavioural and neural dimensions of learning difficulties. Machine-learning approaches will be used to map the multi-dimensional space of the cognitive, neural and behavioural measures to identify clusters of children with shared profiles. Finally, group comparisons will be used to test theories of development and disorder., Discussion: Our multi-systems approach to identifying the causes of learning difficulties in a heterogeneous sample of struggling learners provides a novel way to enhance our understanding of the common and complex needs of the majority of children who struggle at school. Our broad recruitment criteria targeting all children with cognitive learning problems, irrespective of diagnoses and comorbidities, are novel and make our sample unique. Our dataset will also provide a valuable resource of genetic, imaging and cognitive developmental data for the scientific community.

The aim of this study was to describe the perceptions of nurse preceptors of nursing students and new graduate nurses with learning disabilities in clinical settings. Learning disabilities pose potential challenges in nursing education, especially in clinical settings when working with preceptors. Preceptors (N = 166) who attended a state-wide preceptor workshop responded to an electronic survey that assessed their perceptions. Four concepts were explored: preceptor perceived level of preparedness; preceptor perceived confidence in implementation of their role; preceptor beliefs regarding the potential of learners with learning disabilities; and preceptor agreement with provision of accommodations for learners with learning disabilities. Preceptors felt unprepared and lacked confidence in their ability to implement their role as preceptor for those with learning disabilities. Those who had exposure to learning disabilities reported feeling more prepared, however they had expectations for the learner to work hard, have strategies and accommodations in place, ask for help when needed, and take responsibility for their learning. Preceptors reported they are willing to precept nurses with learning disabilities, and they expect support for those with learning disabilities. Educational modules and support to increase preceptor preparedness and confidence should be incorporated into preceptor training., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Schools of Nursing have witnessed an increase in the number of nursing students who struggle with learning difficulties. Support and accommodations are available in academic settings. Because nursing is a practice profession students also learn in clinical settings, which may not have similar support and accommodations. The compatibility of the clinical setting for the education of students with learning difficulties has not been studied. Staff nurses responsible for the clinical education of students and new nurses receive little preparation for their role as educator, and may not feel supported to meet the needs of those with learning difficulties. This is part one in a series of articles about the clinical education of nursing students with learning difficulties. This paper provides a framework and literature review for the development of a study (part 2) exploring the issue from the perspective of the nurse preceptors who educate students and new graduates with learning difficulties., (Copyright © 2018. Published by Elsevier Ltd.)

Attention deficit / hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child-youth population, with a known impact on learning and school performance. Lack of attention, associated executive dysfunction and comorbid problems -particularly those related to learning and anxiety-, strongly determine this conceptual domain. Affected youths have more problems for taking notes, completion of homework, school programming and less motivation to study. Despite greater dedication to homework and greater use of support resources, school failure and nonachievement of curricular objectives are more frequent in these patients. The early diagnosis of ADHD and its comorbidities, the adequate and individualized psychoeducational and pharmacological intervention, have been shown to improve academic prognosis in the short and long term. For this purpose, the active participation of health and education professionals is essential.

Background: The issue of violence in secure services has long been recognized both in the UK and worldwide. However, there is currently scarce literature available about violence within learning disability (LD) secure settings., Methods: Secondary data analysis was conducted on violent incidents, using information routinely collected by the staff over a 1-year period., Results: Physical assaults were the most frequent type of incident, and the distribution in terms of days or months was homogenous and incidents were concentrated in the corridors, lounges and dining rooms of secure facilities. Antipsychotic medication was not regularly prescribed. Generalized linear modelling analyses revealed significant predictors that increased the chances of seclusion and physical restraint, such as being female or directing the violence towards staff., Conclusions: These findings can inform staff training on violence prevention and suggest that increased ward-based supervision and enhanced use of psychological formulations may help in reducing violence within this service context., (© 2018 John Wiley & Sons Ltd.)

Purpose: Reading skills continue to develop into adolescence and adulthood. Difficulties in reading have lifelong repercussions. Many speech-language pathologists who work with older individuals in the school setting face significant issues, including those mandated by recent changes in legislation. Theoretical topics related to reading development and disorders include the variety of orthographic systems across languages and the ways in which adults who are literate in an alphabetic orthographic system experience changes to their spoken and written language processing. In addition, older readers with intellectual or developmental disabilities may benefit from the use of leveled books and the inclusion of illustrations or drawings along with text., Method: I completed a focused literature review regarding typical reading skills, dyslexia in adolescence and adulthood, recent changes in legislation, orthography, and the use of leveled books for adolescents and adults with intellectual or developmental disabilities., Conclusions: Further study of reading in older individuals may lead to important theoretical and clinical applications. Speech-language pathologists should keep in mind the various components of reading (such as decoding and comprehension), how these factors relate to oral language, and how they may be addressed in therapy.

In recent years, normed signed language assessments have become a useful tool for researchers, practitioners, and advocates. Nevertheless, there are limitations in their application, particularly for the diagnosis of language disorders, and learning disabilities. Here, we discuss some of the available normed, signed language assessments and some of their limitations. We have also provided information related to practices that should lead to improvement in the quality of signed language assessments.

This pilot study is to investigate the influence of a developmental coordination disorder (DCD) comorbidity in a group of children with learning disability (LD). Reading and writing were assessed to investigate if the coexistence of a motor impairment can worsen writing quality, speed, and reading accuracy. A sample of 33 LD children (aged 7-11 years) was divided in two subgroups, on the base of their scores on the Movement Assessment Battery for Children: LD-only (n = 14) and LD with a comorbidity for DCD (LD-DCD, n = 19). No differences were found in handwriting speed, but significant differences were found in handwriting quality: LD-DCD children showed a worst performance. Reading words and nonwords accuracy was more impaired in LD-only children than in LD-DCD children. Group differences suggest a poorer phonological decoding of the LD-only sample, whereas worst cursive handwriting legibility scores are typical of the motor-impaired subgroup.