Learning disabilities in children with hearing loss: A systematic review.

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.

Diagnostic overshadowing: self-injurious behaviour as a manifestation of pain in the head and neck.

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.

Symptoms of Cognitive Impairment Among Children With Atopic Dermatitis.

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.

Health and Well-Being at the Transition to Adulthood Among Individuals With Disabilities: An Analysis of the Panel Study of Income Dynamics.

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.

The oral health of adults with learning disabilities: A secondary analysis of the Adult Dental Health Survey 2009.

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.

Sketch and Speak Expository Intervention for Adolescents: A Single-Case Experiment via Telepractice.

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.

Maternal age at childbirth and the risk of attention-deficit/hyperactivity disorder and learning disability in offspring.

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.

History of learning disorders is associated with worse cognitive and functional outcomes in schizophrenia: results from the multicentric FACE-SZ cross-sectional dataset.

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.

The Post-Concussion Symptom Scale: Normative Data for Adolescent Student-Athletes Stratified by Gender and Preexisting Conditions.

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.

Attention-Deficit Hyperactivity Disorder and Learning Disabilities Modify Recovery and Sport Behavior Following Sport-Related Concussion.

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.

Bardet-Biedl syndrome: a case series.

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.

The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.

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.

Neurodevelopmental Disorders and Risk of Concussion: Findings from the National Collegiate Athletic Association Department of Defense Grand Alliance Concussion Assessment, Research, and Education (NCAA-DOD CARE) Consortium (2014-2017).

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.

Correlation between primary headaches and learning disabilities in children and adolescents.

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.

Learning and Attention Deficit/Hyperactivity Disorders as Risk Factors for Prolonged Concussion Recovery in Children and Adolescents.

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.

A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome.

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.

Transdisciplinary Approach in Type I Neurofibromatosis - Review of Psychiatric Disorders.

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.