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Children with epilepsy are at increased risk for language and reading difficulties. Phonological processing and language underlie reading success, yet their association with reading achievement in children with epilepsy is unknown. We assessed phonological processing, oral language, and reading in children (ages 6 to 12) with epilepsy (EP; n = 6), language problems (LP; n = 14), and typical development (TD; n = 15). The EP and LP group had lower scores on all measures compared with the TD group, with the EP group scoring the lowest on reading comprehension. Phonological processing followed by epilepsy diagnosis predicted reading decoding. Language followed by epilepsy diagnosis predicted reading comprehension. Thus, reading problems in children with epilepsy are not fully explained by their phonological processing or language deficits. Further research that considers other cognitive processes important for reading (e.g., executive function) in this population may help inform our understanding of their reading success.

We examine the cost-effectiveness of treating epilepsy with anti-epileptic medicines in autistic children, looking at impacts on healthcare providers (in England, Ireland, Italy and Spain) and children's families (in Ireland). We find carbamazepine to be the most cost-effective drug to try first in children with newly diagnosed focal seizures. For England and Spain, oxcarbazepine is the most cost-effective treatment when taken as additional treatment for those children whose response to monotherapy is suboptimal. In Ireland and Italy, gabapentin is the most cost-effective option. Our additional scenario analysis presents the aggregate cost to families with autistic children who are being treated for epilepsy: this cost is considerably higher than healthcare provider expenditure.

CDKL5 deficiency disorder (CDD) results in early-onset epilepsy and lifelong cognitive and motor impairments. With no validated measure for communication in CDD, this study evaluated the psychometric properties of the Communication and Symbolic Behavior Scales-Developmental Profile Infant Toddler Checklist (CSBS-DP ITC). Caregivers (n = 150; affected individuals aged 1-29 years) completed the CSBS-DP ITC. Distribution of scores indicated a floor effect. There was poor divergent validity for the three-factor model but goodness of fit and convergent validity data were satisfactory for the one-factor model. Individuals with poorer overall functional abilities scored lower on the CSBS-DP ITC. Test-retest reliability was excellent. The floor effect could explain the very high reliability, suggesting problems as a sensitive outcome measure in clinical trials for CDD.

Background: We now have sufficient evidence demonstrating inequalities in specific avoidable causes of death for adults with intellectual disability compared to their peers without intellectual disability. Apart from COVID-19, the largest differentials that disadvantage people with intellectual disability are in relation to pneumonia, aspiration pneumonia, epilepsy, cerebrovascular disease, ischaemic heart disease, deep vein thrombosis, diabetes and sepsis. The aim of this systematic review is to report on strategies at the individual, population or policy levels aimed at preventing these conditions that are applicable to adults with intellectual disability and that have been based on or recommended by research. Methods: Systematic review of PUBMED, EMBASE, CINAHL, PsychInfo, Social Care Online, International Bibliography of the Social Sciences (IBSS), Web of Science, Scopus, Overton, the Cochrane Library and Google Scholar databases was carried out. Searches were completed on 30 June 2023. Quantitative, qualitative and mixed-methods research; systematic, scoping or evidence-based reviews; and audit and reports of mortality reviews were included. Publications included in the review were about preventing the eight potentially avoidable causes of death. Findings: Ninety-four papers were included in the review (9 in relation to pneumonia; 11 for aspiration pneumonia; 18 for sudden unexpected death in epilepsy; 7 for cerebrovascular disease; 8 for ischaemic heart disease; 4 for deep vein thrombosis; 31 for diabetes; 6 for sepsis). The eight most frequently occurring potentially avoidable causes of death in people with intellectual disability are very different medical conditions, but they shared striking similarities in how they could be prevented. The literature overwhelmingly implicated the need to make lifestyle changes to address obesity, lack of exercise and poor nutrition, and to have regular medical reviews. In addition, 'whole-population' approaches are required that look beyond the individual to the social determinants of health. Conclusions: We found little peer-reviewed evidence specifically about preventing these conditions in people with intellectual disability. However, most of the literature about preventative strategies pertaining to the general population was applicable to people with intellectual disability, albeit that some 'reasonable adjustments' would be required.

This study aimed to describe the behavioral profile of individuals with SYNGAP1-ID. Parents/carers of 30 individuals aged 3-18 years old with a diagnosis of SYNGAP1-ID and 21 typically developing individuals completed the Vineland-3 Adaptive Behavior Scale and the Child Behavior Checklist. We found that those with SYNGAP1-ID showed fewer adaptive behaviors and higher levels of internalizing and externalizing behaviors across almost all domains compared to typically developing controls. There was some evidence that these differences were greatest in older children, and more apparent in those with co-occurring epilepsy. This characterization of the phenotype of SYNGAP1-ID significantly aids our understanding of the behavioral profile of this population and is a step towards the development of tailored interventions.

This study examined hospitalizations in a large, all-payer, nationally representative sample of inpatient hospitalizations in the US and identified differences in rates of hospitalization for conditions by race and ethnicity in autistic adults. Conditions examined included mood disorders, epilepsy, schizophrenia, and ambulatory care sensitive conditions (ACSCs). Compared to white, non-Hispanic autistic adults, Black, Hispanic, Asian or Pacific Islander (API), and autistic adults of another race had lower prevalence of admission for a principal diagnosis of a mood disorder. Conversely, Black, Hispanic, API, and autistic adults of another race had higher odds of admission for epilepsy than white autistic adults. Black and Hispanic autistic adults were more likely to have schizophrenia as a principal diagnosis compared to white autistic adults, but only Black autistic adults had increased odds for admission for an ACSCs compared to white autistic adults. Differences in diagnosis prevalence among hospitalized autistic adults may suggest differential access to comprehensive outpatient care that could prevent such hospitalizations, while also pointing to concerns of differential validity of diagnostic tools and treatment approaches. Insurance policy and programs should prioritize optimizing outpatient care to ensure access to care and emphasize the need for equitable treatment.

This systematic review aimed to identify factors significantly associated with the occurrence of epilepsy in autistic individuals and to consider the impact of study quality on findings. Electronic databases were systematically searched on October 2nd, 2020 and records retrieved were limited to those published from 2000 onwards. Study quality was categorised as 'good', 'moderate' or 'weak'. Fifty-three studies were included and in studies where the prevalence of epilepsy was reported (n = 257,892), 18,254 (7%) had co-occurring epilepsy. Intellectual disability/cognitive impairment was the most commonly reported risk factor associated with occurrence of epilepsy in autistic individuals. The evidence supporting other, potentially relevant factors was weak and inconsistent and requires further evaluation. Only 9/53 studies were considered 'good' quality.

Background: Previous research indicated a high prevalence of disordered sleep among adults with learning disabilities, however issues with design impacted findings. The current systematic review aims to: (1) present how disordered sleep and sleep disorders amongst adults with learning disabilities are described in the literature, and (2) report on the prevalence of disordered sleep and sleep disorders among adults with learning disabilities. Methods: Five databases (EMBASE, MEDLINE, PsycARTICLES, PsycINFO and PubMed) were searched for articles published from 1900 to October 2021 that examined the prevalence of disordered sleep and/or sleep disorders in adults aged 18 or older with learning disabilities. The Joanna Briggs Institute critical appraisal checklist for prevalence studies was used to assess study quality and prevalence is described and reported as ranges. The study was registered on PROSPERO (ID: CRD42019134550). Findings: A total of 27 studies were selected. Twenty studies (n = 8043 participants) examined the prevalence of disordered sleep and identified prevalence ranging from 6.1% to 74.2% across a range of sleep parameters. Twelve studies examined sleep-related breathing disorders (n = 2558 participants) and identified prevalence which ranged from 0.5% to 100%. There was notable heterogeneity between studies in terms of quality, definition of disordered sleep, measurement of sleep, and study design. Conclusion: There was a variable prevalence of disordered sleep among people living with learning disabilities. There were problems in meaningfully synthesising results due to heterogeneity in measurement, diagnosis, study design and study quality. Based on these limitations, we suggest that future studies should seek to utilise objective, replicable and consistent measures of sleep in this population and control for physical health factors which could influence prevalence such as epilepsy and iatrogenic effects.

To assess the role of clinical features in diagnosing seizures in children with autism spectrum disorder who present with staring spells. A 10-year retrospective chart analysis of autism spectrum disorder patients aged 3-14 years was performed at a tertiary care children's hospital. Patient demographics, clinical presentation, and epileptic seizure versus non-epileptic spell diagnosis were assessed. Target episodes of staring spells were captured during a long-term electroencephalogram monitoring record. Multilevel likelihood ratios and a receiver operating characteristic curve were determined using 8 of the 11 clinical variables. Among the cohort of 140 patients with autism spectrum disorder, 16% were diagnosed with epileptic seizures with the most common seizure being atypical absence seizures (64%). Clinical semiology differed between those diagnosed with epileptic seizures versus those diagnosed with non-epileptic spells in the average duration of episodes (42 s vs 87 s), frequency of spells per week (6 vs 11.5 spells), increase in frequency of staring spells over time (100% vs 40%), and response to verbal stimulation (0% vs 100%), respectively. Multilevel likelihood ratios based on the receiver operating characteristic curves and clinical semiology features may be helpful in differentiating epileptic seizures from non-epileptic spells in children with autism spectrum disorder.

This is a retrospective case series of pediatric patients referred to the psychogenic nonepileptic events clinic (PNEE) who had comorbid diagnoses of autism spectrum disorder (ASD) or intellectual disability (ID). We describe 15 patients, nine with ASD and six with ID who had a telephone visit follow-up at 12 months. There were higher rates of male gender (40%) and comorbid epilepsy (53%) compared to the larger PNEE cohort. Eleven patients were available for follow-up and ten patients had improvement in events or were event-free. We report that patients with ASD or ID can develop PNEE and experience improvement from events.

Echolalia is a typical feature of children with epilepsy and autism, but whether it is pathological is still controversial. This article aims to explore the contentious issue of echolalia based on data from three selected Chinese children with epilepsy and autism. Through discourse analysis, we explored two types of echolalia: immediate echolalia and delayed echolalia. It was found that the two types of echolalia were used to achieve interactional function, interpersonal function, and experiential function. Our research also found that the echolalia phenomenon reflected the participants' pragmatic awareness when dealing with new information. This article will contribute to understanding echolalia in children with epilepsy and autism and provide intervention methods for children with language impairment.

Background: While epilepsy can decrease quality of life and self-determination in individuals without intellectual disabilities, the impact of epilepsy on experienced self-determination in people with intellectual disabilities remains unclear. Method: We conducted semi-structured interviews with six adults (four men, two women) aged 30-61 with mild intellectual disabilities and drug-resistant epilepsy to investigate their experiences of self-determination. The data were analysed using Interpretative Phenomenological Analysis. Results: Three main themes were identified: (A) I am a competent person with epilepsy; (B) My social needs: being accepted as I am and stability in relationships; and (C) Being in control. Conclusions: In this study, the impact of epilepsy on experienced self-determination of people with mild intellectual disabilities outweighs the influence of intellectual disabilities. Identity formation, friendships with peers, and autonomy support in risk management are identified as important topics in supporting this group.

Sex education rarely covers disability. This paper uses autoethnography to reflect on how being epileptic impacted the author's understanding of sex and sexuality. The paper grapples with disability narratives and internalised ableism surrounding sex. The paper seeks to engage with conceptions of "who" sex education is for, and how disabled people are treated when it comes to sexuality.

Background: People with epilepsy and intellectual disability should be considered at high risk of developing metabolic bone disease. Risk is increased with number of comorbidities and polypharmacy, particularly anti-seizure medications. One way of improving bone health is to ensure that every one has adequate levels of vitamin D through supplementation. Methods: This audit phase of a wider quality improvement (QI) project monitors the implementation of a Bone Health Project (BHP) for people with epilepsy and intellectual disability. Key Clinical Standard 1 of the BHP aims to ensure that where appropriate everyone prescribed anti-seizure medication is offered vitamin D supplementation. This audit standard is based upon the Scientific Advisory Committee on Nutrition Guidance. The complete audit cycle was undertaken for the entire patient cohort under the care of a specialist epilepsy service and followed QI methodology. Findings: From the initial audit, the total number of patients prescribed vitamin D supplementation increased significantly from 95 (29%) to 182 (79%) by the end of the cycle. For those prescribed enzyme-inducing anti-seizure medications, the number of patients prescribed vitamin D supplementation increased significantly from 52 (49%) to 89 (90%). Conclusions: Working collaboratively with people with intellectual disability and epilepsy can enhance engagement. Vitamin D supplementation at 800IU has been established as safe and largely efficient in ensuring most people have adequate levels of serum vitamin D. There will be people who require vitamin D replacement therapy, and this requires further intervention including monitoring of bone profiles and referral to other specialists.

The COVID-19 pandemic has led to a radical lifestyle change, which may unintendedly change physical activity levels. We aimed to perform a systematic review to investigate the physical activity changes in people with neurological diseases, and to examine the relationship between physical activity and disease symptoms, and psychosocial factors. The review was performed in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. A systematic search of the literature across five databases (PubMed, CINAHL, Web of Science, SCOPUS, and Cochrane Library) was carried out using the keywords relating to COVID-19, physical activity, sedentary behaviour, exercise, and the name of the neurological diseases. The systematic search was updated on 4 February 2021 with the same keywords. Fourteen studies (n = 7662 persons with neurological diseases, n = 1663 healthy controls) were eligible for this review. The study populations were Parkinson disease (n = 7), dementia (n = 1), multiple sclerosis (n = 1), spinal cord injury (n = 1), hereditary spastic paraplegia (n = 1), neuromuscular diseases (n = 1), Charcot-Marie-Tooth neuropathy (n = 1), and epilepsy (n = 1). Thirteen studies reported a decreased physical activity level, one study reported a high interruption rate of physiotherapy/rehabilitation. Furthermore, the physical activity reduction was associated with worse disease symptoms, depression, perceived health, and mental and physical components of quality of life. The COVID-19 pandemic has a negative impact on the physical activity levels of people with neurological diseases, and this change was related to the worsening of disease symptoms and psychosocial factors. "Registration number" A protocol of the review was registered with the PROSPERO database (CRD42020207676).

Individuals diagnosed with autism spectrum disorder (ASD) have a higher probability of developing co-occurring mental or physical health conditions. However, little is known about how these health conditions develop and impact the lives of the adult ASD population. This paper reviewed existing studies concerning factors affecting the health status of adults with ASD and described their outcomes and prevalence. A systematic search of electronic databases yielded 21 studies eligible to be included. The most common physical problems affecting health were epilepsy and immune, gastrointestinal, and sleep disorders. Mental health disorders, most prominently mood and anxiety disorders and OCD, were also strong factors for determining health in adults. Future research should focus on measuring the overall health status of the adult ASD population.

Persons with rare, epilepsy-related disorders often have intellectual disability and need long-term care. Informal and formal caregivers need information in order to care for the persons in a safe way. Aims: The aims of this review were: (1) to obtain an overview of caregiver-reported information needs; and (2) to investigate if there are information needs that are unique for caregivers of persons with rare epilepsies. Method: We followed the scoping review framework outlined by Arksey and O'Malley and the preferred reporting items outlined by PRISMA. Results: Among the 17 articles that met the inclusion criteria, 5 included caregivers of persons with rare epilepsies. Categories of information needs: (1) Medical information; (2) Information on how to cope with emotional distress; (3) Experiential information from peers; and (4) Interdisciplinary information exchange. The need for disorder-specific information seemed particularly important for caregivers of persons with rare epilepsies. Conclusion: There is a need for further studies, particularly on formal caregivers' information needs.

Infantile spasms (IS) is a rare epileptic disorder occurring in children under the age of one that can often lead to severe developmental delays throughout life. Though over 200 etiologies have been associated with this disorder, many cases remain unexplained. Research into the etiology of IS has implicated causes such as exposure to prenatal stress or changes in GABAergic signaling. Here, we describe recent findings that draw a direct connection between prenatal stress, altered GABA signaling, and the development of IS. We also discuss how these findings can be used in the classroom to enrich discussions of nervous system physiology, development, and disease.

The clinical similarity among different neuropsychiatric disorders (NPDs) suggested a shared genetic basis. We catalogued 23,109 coding de novo mutations (DNMs) from 6511 patients with autism spectrum disorder (ASD), 4,293 undiagnosed developmental disorder (UDD), 933 epileptic encephalopathy (EE), 1022 intellectual disability (ID), 1094 schizophrenia (SCZ), and 3391 controls. We evaluated that putative functional DNMs contribute to 38.11%, 34.40%, 33.31%, 10.98% and 6.91% of patients with ID, EE, UDD, ASD and SCZ, respectively. Consistent with phenotype similarity and heterogeneity in different NPDs, they show different degree of genetic association. Cross-disorder analysis of DNMs prioritized 321 candidate genes (FDR < 0.05) and showed that genes shared in more disorders were more likely to exhibited specific expression pattern, functional pathway, genetic convergence, and genetic intolerance.

Video self-modeling instruction offers advantages compared to in-vivo instruction but has not been used with individuals with Dravet syndrome. Therefore, the purpose of this study was to investigate the effects of video self-modeling (VSM) on three different behaviors of a 12-year-old boy with Dravet syndrome. We taught the participant's mother to use video-modeling instruction via role-playing and feedback and evaluated effects of VSM using a multiple-baseline design across behaviors: ordering numbers in descending sequence, positioning features on a face, and reading words. The VSM increased performance accuracy for all three skills, suggesting that VSM interventions via telehealth may provide an effective and sustainable option for skill development.

Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in the field with the potential to impact the success of clinical trials for Angelman syndrome and also have relevance of other neurogenetic developmental disabilities.

Fyodor Dostoyevsky wrote masterpieces describing the exploitation and victimisation of the socially disadvantaged who were affected by industrialisation in the 19th century. In "The Brothers Karamazov," Pavel Fyodorovich Smerdyakov (hereafter, Smerdyakov) plays a critical role in various spheres of the story. His birth was the result of the rape of Lizaveta Smerdyastchaya by Fyodor Pavlovich Karamazov (hereafter, Fyodor). Tragically, Lizaveta died immediately after the delivery. Grigory and Marfa, Fyodor's serfs, adopted Smerdyakov, who then also grew up as a serf. Eventually, Smerdyakov murders Fyodor, and accordingly, this destined act turned Smerdyakov into a hybrid of goodness and evilness, being described by the narrator as 'a contemplative', which makes the story quite complicated and tragic. Despite his complexities, Smerdyakov remains one of the least-discussed characters in the studies hitherto. Hence, this paper has two aims, the first of which is the discussion of the meaning of the early life of Smerdyakov by revealing a tragic tension within him. It will also discuss education for a contemplative like Smerdyakov from the perspectives of polyphony as advocated by Bakhtin -- as it is important to view the contemplative as an indispensable protagonist and understand them through listening.

Biomimicry is a useful method to develop students' skills, such as design and systems thinking, particularly when complemented with inquiry-based learning. The research seeks to uncover how students engage in the biomimicry process and what types of designs they produce to reveal insights that could assist educators in teaching biomimicry. A study was conducted with 70 undergraduate students who were placed into 12 groups. Using an inquiry-based learning method, students selected their own health challenge and proposed a biomimetic design. Students submitted reports which were analysed via thematic analysis revealing numerous findings, including two common forms of biomimicry carried out by students, further insights into the strategy of 'cross breed mimicry', the types of organisms students imitated, and the successes and difficulties students faced in applying biomimicry. It contributes to the understanding of how students engage in biomimicry. This research is among one of the first studies to apply an existing six stage biomimicry process and to test this in the field of biomedical engineering.

The literature from inception to 2020 on the prevalence of epilepsy in autistic individuals was systematically reviewed and further explored by subgroup analyses and meta-regression models. This systematic review is registered with PROSPERO (CRD42020179725). A total of 66 studies from 53 articles were included. The updated pooled prevalence of epilepsy in autistic individuals was 10% (95% CI: 6-14). The respective prevalence estimate of epilepsy was 19% (95% CI: 6-35) in the clinical sample-based cross-sectional study, 7% (95% CI: 3-11) in the cohort study, and 9% (95% CI: 5-15) in the population-based cross-sectional study. The pooled prevalence of epilepsy was 7% (95% CI: 4-11) in autistic children and 19% (95% CI: 14-24) in autistic adults. Compared to the school-aged group, the adolescence group (OR: 1.15, 95% CI: 1.06-1.25) and the pre-school group (OR: 1.06, 95% CI: 0.94-1.19) were positively associated with the prevalence of epilepsy. The moderators of age, human development index of the country, gender, and intellectual function accounted for most of the heterogeneity. The prevalence estimates were associated with age, female gender, intellectual disability rate, and the human development index of countries. About 1/10 autistic individuals co-occurred with epilepsy, which was common in the clinical setting, adolescents, adults, females, or patients with intellectual disability, and less common in the country with high human development index.

Duplication of chromosome 15q11.2-q13.1 (dup15q syndrome) results in hypotonia, intellectual disability (ID), and autism symptomatology. Clinical electroencephalography has shown abnormal sleep physiology, but no studies have characterized sleep behaviors. The present study used the Children's Sleep Habits Questionnaire (CSHQ) in 42 people with dup15q syndrome to examine the clinical utility of this questionnaire and quantify behavioral sleep patterns in dup15q syndrome. Individuals with fully completed forms (56%) had higher cognitive abilities than those with partially completed forms. Overall, caregivers indicated a high rate of sleep disturbance, though ratings differed by epilepsy status. Results suggest that clinicians should use caution when using standardized questionnaires and consider epilepsy status when screening for sleep problems in dup15q syndrome.

Autistic children have a high prevalence of co-occurring mental health, developmental/behavioral, and medical conditions, but research on sex/gender differences has been mixed. We used Florida healthcare claims data to characterize sex differences (female/male) in co-occurring conditions among autistic children ages 1-21 (N = 83,500). After adjusting for age, race, ethnicity, urbanicity, and insurance, autistic girls had significantly higher odds of anxiety disorders, mood disorders, intellectual disability, developmental disorders, epilepsy, metabolic disorders, gastrointestinal disorders, and sleep disorders compared to autistic boys. Autistic girls had significantly lower odds of ADHD. The findings contribute to the growing body of research on the unique healthcare needs of autistic girls.

People with severe disabilities have a higher prevalence of many health conditions when compared with the general population. Examples include gastrointestinal conditions, chronic allergies, epilepsy, and sleep dysregulation, among many other health concerns. Of particular interest in the treatment of challenging behavior is the comorbidity of health conditions and behavioral challenges. Evidence suggests that not only do people with severe disabilities have higher rates of health conditions, but people with severe disabilities and challenging behavior have even higher rates of health concerns. This article reviews the existing evidence linking health conditions and challenging behavior, discusses health disparities in diagnosis and treatment of these comorbidities, and suggests future avenues for discovery and intervention.

Background: This study explored antiepileptic drug use, frequency of seizures, and the effect of psychotropic drugs with the potential to lower the seizure threshold in persons diagnosed with epilepsy and intellectual disability. Methods: Data for this study were drawn from Wave 3 of the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA). Psychotropic drugs were categorised for potential seizure threshold-lowering risk (low, moderate, high). Binary logistic regression was performed to identify factors associated with seizure frequency. Results: Epilepsy prevalence was 35.8% (n = 196), of which 57.7% reported a mental health condition. Participants with seizure data classified as taking at least one moderate-/high-risk medication were significantly less likely to experience a seizure compared to participants taking no potential seizure threshold-lowering medication. Conclusions: Psychotropic drugs recommended to be avoided or used with caution did not provoke increased seizure frequency in this cohort.

The prevalence of autism spectrum disorder in South Africa is unknown and, to date, very little research has been performed within school systems that could inform the rates, distribution and profile of needs of children with autism spectrum disorder in education. We performed a comprehensive database search of all children with autism spectrum disorder in the formal education system in the Western Cape province of South Africa and compared the findings with population demographic expectations of the province. From a population of 1,154,353 children attending schools in the province, a total of 940 children with a diagnosis of autism spectrum disorder were identified, representing a rate of 0.08%. The male:female ratio was 5.5:1. There was a significant difference in the self-reported racial and language composition of the autism spectrum disorder sample compared with the Western Cape demographics where a higher proportion of children with autism spectrum disorder were from White racial groups and English-speaking homes. Eighty-nine percent of children with autism spectrum disorder were in Special Schools and only 10% were in Ordinary/Mainstream Schools. Most of the children (83%) attended schools in the City of Cape Town and only 17% in rural areas. Co-occurring intellectual disability was reported in 22.2% of the population, attention-deficit/hyperactivity disorder in 2.6% and epilepsy in 0.7%. Data showed a 76.03% increase in autism spectrum disorder in schools between 2012 and 2016, with an average increase of 15.18% per year. Findings suggested an under-representation of autism spectrum disorder in schools and an under-identification of co-occurring conditions. Results indicate that despite being one of the better-resourced provinces in South Africa, the Western Cape is not equipped to identify and meet the culturally and linguistically diverse needs of its communities. We propose strengthening of educational systems for children with autism spectrum disorder in the Western Cape, and similar investigations in other South African provinces.

The Autism Dysmorphology Measure is designed for non-expert clinicians. It uses an algorithm to assess 12 body regions and categorizes Autism on the number of dysmorphic regions identified; Essential ([less than or equal to] 3), Equivocal (4-5) or Complex ([greater than or equal to] 6). We evaluated 200 Indian children with Autism (mean age 3.7 years) in a hospital-based cross-sectional study and compared inter-group profiles. We found 31% Essential, 49% Equivocal and 20% Complex Autism. On comparing results with existing literature, it appeared that genetic ancestry and age significantly influenced dysmorphism and hence categorization. No significant differences were observed between complex and essential autism in epilepsy, severity of autism or development, as reported earlier. These shortcomings make the present tool unsuitable for use in young Indian children with Autism.

Individuals with autism spectrum disorder experience a significant number of co-occurring medical conditions, yet little is known about these conditions beyond prevalence. Using large-scale de-identified medical records, we can use a novel phecode-based tool to characterize co-occurring conditions in autism spectrum disorder. We hypothesized that individuals with autism spectrum disorder experience an increased burden of co-occurring conditions as measured by presence, frequency, and duration of visits related to co-occurring conditions. Secondarily, we hypothesized that age at first encounter for autism spectrum disorder (early, <5; late, >5) would be associated with different co-occurring conditions. The International Classification of Diseases, Ninth Revision, codes were extracted from a large anonymized electronic medical center database for 3097 individuals with autism spectrum disorder and 3097 matched controls. Co-occurring conditions were characterized using a novel tool (pyPheWAS) to examine presence, frequency, and duration of each condition. We identified several categories of co-occurring conditions in autism spectrum disorder: neurological (convulsions, sleep disorders); psychiatric (anxiety disorders, adjustment/conduct disorders), as well as constipation, hearing loss, and developmental delays. Our work confirms individuals with autism spectrum disorder are under a significant medical burden, with increased duration and frequency of visits associated with co-occurring conditions. Adequate management of these conditions could improve quality of life for individuals with autism spectrum disorder.

Although epilepsy commonly presents with autism in children, it is currently unknown whether established estimates represent the prevalence and incidence of epilepsy in autistic adults. Our objective was to use population-level Medicaid data to determine prevalence, incidence, and antiepileptic drug use associated with epilepsy in a unique population of autistic adults aged 21+ with (N = 2738) and without (N = 4775) intellectual disability and to compare results to adults with intellectual disability alone (N = 18,429). We found that 34.6% of autistic adults with intellectual disability and 11.1% of autistic adults without intellectual disability had epilepsy, compared to 27.0% of adults with intellectual disability alone. New incidence of epilepsy was 23.6 incident cases per 1000 person years (95% confidence interval: 21.3, 26.2) in autistic adults with intellectual disability, 7.7 incident cases per 1000 person years (95% confidence interval: 6.6, 8.9) in autistic adults without intellectual disability, and 15.9 incident cases per 1000 person years (95% confidence interval: 15.2, 16.7) in adults with intellectual disability alone. Female sex and intellectual disability were associated with increased risk of prevalent and incident epilepsy in autistic adults. Findings underscore the importance of treating prevalent epilepsy and screening and preventing incident epilepsy in autistic adults as they age.

The etiological significance of neurological disorders in autism is debated, but it is clear that they complicate support provision and clinical management, and can have negative impact on outcomes. This systematic review and meta-analysis explored the full range of co-occurring neurological disorders in autism. We estimated the odds of having neurological complications compared to the general population and other neurodevelopmental conditions, as well as the overall prevalence of different neurological disorders. Seventy-nine articles were eligible for the systematic review, including 28 case-control studies, 43 prevalence studies, and 8 cohort studies. Findings were heterogeneous across studies. Overall, autistic individuals were significantly more likely than the general population to exhibit epilepsy, macrocephaly, hydrocephalus, cerebral palsy, migraine/headache, and congenital abnormalities of the nervous system, with prevalence estimates ranging from 1.1% (0%-3.3%; hydrocephalus) to 14.2% (11.3%-17.2%; epilepsy). Epilepsy was also more common in autism than in attention-deficit/hyperactivity disorder (odds ratio [95% confidence interval] = 4.06 [2.81-5.88]). Findings indicate that awareness of neurological disorders and neurological check-ups are indicated in autism to ensure adequate physical health care and support. Prospective studies of neurological disorders in children diagnosed with or at risk of autism might further enhance our understanding of causal pathways.

The paucity of scientifically rigorous school nursing clinical practice guidelines (CPGs) presents barriers to evidence-based care of students with special health-care needs. A "Model for Developing Evidence-Based Clinical Practice Guidelines for School Nursing" (School Nursing CPG Model) was developed under the auspices of the National Association of School Nurses (NASN) to address this need. To test and validate this School Nursing CPG Model, a trial CPG development project was conducted to (1) identify structure and process gaps and areas for improvement within the School Nursing CPG Model and (2) develop an evidence-based CPG for school nursing practice that addresses a priority student health condition: seizures and epilepsy. The School Nursing CPG Model was validated through a trial CPG project which followed the systematic, standardized process of the School Nursing CPG Model while responsively implementing quality improvement measures through the Plan-Do-Study-Act cycle. Both specific aims were accomplished.

Aerophagia is a functional gastrointestinal disorder characterized by excessive swallowing of air associated with abdominal distension and pain, flatulence, belching, nausea, and vomiting. The purpose of the current study was to evaluate the effectiveness of an antecedent-based behavioral intervention on aerophagia with an adolescent female diagnosed with Lennox-Gastaut syndrome (LGS), severe intellectual disability, and herpes simplex virus infection of the central nervous system with chronic static encephalopathy. Results from a functional analysis and multiple-component aerophagia assessment suggested that aerophagia persisted in the absence of social consequences (i.e., maintained by automatic reinforcement), and was sensitive to activity-based antecedent manipulations. Results from the behavioral treatment evaluation yielded clinically and statistically significant decreases in aerophagia with behavioral treatment alone, and with combined behavioral-pharmacological treatment.

Epilepsy is a heterogeneous collection of neurological conditions and syndromes characterized by recurrent, unprovoked, paroxysmal seizure activity. It is estimated that 10.5 million children under 15 years have active epilepsy, representing about 25% of the global epilepsy population. Of the 3.5 million people who develop epilepsy annually, 40% are younger than 15 years, and more than 80% live in developing countries. Epilepsy is an important cause of neurological morbidity in children. Family history of epilepsy, neonatal complications, perinatal brain damage, congenital cerebral malformations, intracranial infection, neonatal seizures, febrile seizure were found as predictors of childhood seizure disorder in many of the studies. In early onset epilepsy perinatal asphyxia, neonatal meningitis and neonatal seizure was found to be the important predictors little research has been done on childhood epilepsy in Aseer region. Greater knowledge on risk factors of epilepsy in the early years of life could help to improve understanding of epilepsy, can tell us about its prognosis and allow early intervention. Objectives: This research aimed to determine the prevalence of epilepsy among the school children and determine the risk factors associated with epilepsy Methodology: A case control study was conducted among school students aged 6 up to 18 years. Primary, preparatory and secondary schools was randomly selected in Abha and Khamis Mushait. Results: 20 cases of epilepsy was detected among the studied group. The identified major etiologic factors of the epilepsies were cerebral trauma, febrile convulsions, A family history of epilepsy was a risk factor of the cases, and the consanguinity rate among the parents was high. Conclusion: The most important risk factors for epilepsy in this study only head trauma, febrile convulsions, consanguinity and family history of epilepsy were significant.

Background: People with epilepsy (PWE) have a higher fracture risk than nonepilepsy populations. Antiepileptic drugs (AEDs) cause bone loss. Limited physical activity and poor dietary intake increase fracture risk in PWE. People with an intellectual disability have higher prevalence of epilepsy, likely to be on multiple AEDs, with poorer response, thus at a higher risk of sustaining fractures compared to general population. Ignorance of these issues can add to the risk. The study ascertains bone health knowledge in people with epilepsy and their carers. Materials and Methods: A literature search on intellectual disability, epilepsy, bone health and patient knowledge informed a codesign survey with a service user group. An easy read survey version was created. It was disseminated via NHS Trust clinicians to all service users and their carers receiving services from a specialist learning disability team (catchment population-1,000,000). Results: Thirty-four carers and 23 service users of total 148 eligible (response rate 38.5%) responded to the questionnaires disseminated by clinicians. Approximately 50% of carers and 25% of people with epilepsy had awareness of the increased fracture risk. Less than 25% of the respondents associated AEDs to bone loss. Less than a third were aware of protective strategies to reduce fracture risk. Conclusions: The survey showed significant knowledge shortcomings of both service user and carer groups of relationship between intellectual disability, epilepsy, its medications, fracture risk, and available risk reduction strategies. Clinicians need to be proactive in providing service users and carers with information around bone health and epilepsy.

Memory deficits significantly decrease an individual's quality of life and are a pervasive comorbidity of epilepsy. Despite the various distinct processes of memory, the majority of epilepsy research has focused on seizures during the encoding phase of memory, therefore the effects of a seizure on other memory processes is relatively unknown. In the present study, we investigated how a single seizure affects memory reactivation in C57BL/6J adult mice using an associative conditioning paradigm. Initially, mice were trained to associate a tone (conditioned stimulus), with the presence of a shock (unconditioned stimulus). Flurothyl was then administered 1 h before, 1 h after, or 6 h before a memory reactivation trial. The learned association was then assessed by presenting a conditioned stimulus in a new context 24 h or 1 wk after memory reactivation. We found that mice receiving a seizure 1 h prior to reactivation exhibited a deficit in memory 24 h later but not 1 wk later. When mice were administered a seizure 6 h before or 1 h after reactivation, there were no differences in memory between seizure and control animals. Altogether, our study indicates that an acute seizure during memory reactivation leads to a temporary deficit in associative memory in adult mice. These findings suggest that the cognitive impact of a seizure may depend on the timing of the seizure relative to the memory process that is active.

Purpose: Cognition and language difficulties are frequently reported in both children and adults with epilepsy. The majority of the existing research has focused on pediatric epilepsy, documenting impairments in learning, academics, and social-emotional functioning. In comparison, language deficits in younger and older adults with epilepsy have received less empirical attention. Given recently identified limitations in the extant literature regarding assessing epilepsy-related language problems in adults (Dutta et al., 2018), the current exploratory study described in this research note investigated the cognitive-linguistic abilities of adults with focal or generalized types of epilepsy. Method: Twelve participants with epilepsy and 11 age- and education-matched healthy controls completed a cognitive-linguistic test battery. Event-related potential (ERP) procedures were also employed to assess the integrity of neural activity supporting psycholinguistic processing in both groups using a lexical decision task. Results: No significant performance differences between epilepsy and healthy control groups were noted on basic language tasks; however, group differences were evident on the more complex language measures, including spoken discourse. Even though both groups performed the lexical decision task similarly in terms of accuracy, individuals with epilepsy demonstrated longer reaction times and some atypical ERP characteristics compared to controls. Conclusion: The cognitive-linguistic assessment and ERP findings suggested that, compared to neurotypical adults, individuals with epilepsy demonstrate slower processing times and greater difficulty with high-level language and spoken discourse production, despite performing within typical limits on basic language tests. Preliminary results from this research are significant in providing new knowledge about language functioning in adults with epilepsy.

This article sheds light on how chronic health conditions impact upon concepts of inclusion in children's early childhood education and care in England; it draws upon findings from a small-scale research project which highlights the need to consider health, in particular, the impact of chronic health conditions on early childhood education and care. The study was conducted in two stages: Stage 1 involved a postal questionnaire to 60 early childhood settings and Stage 2 included interviews with 6 practitioners in 4 settings, interviews with parents and observations of a child (called DJ) in his setting over the course of a year. The findings from this study indicate that in an attempt to be inclusive, practitioners may be unintentionally exclusive in their practice. The data suggest that this may be as a consequence of practitioners having different understandings and definitions of what is meant by the term inclusion, leading to confusion about the aims of inclusion. The findings indicate that there is a need to identify what effective pedagogy is for children with chronic health conditions, as well as a need to redefine inclusion in relation to their needs.

We examined theory of mind (ToM; mental state understanding) and language in children with epilepsy (EP; n = 10; mean age = 9.92, SD = 2.34) and with typical development (TD; n = 20; mean age = 10.05, SD = 2.08). The EP group demonstrated worse ToM compared to the TD group (t(28) = -1.11, p = 0.28, d = 0.44) but differences did not persist when controlling for language. Syntactic language was correlated with ToM in the EP group (rho (10) = 0.79, p < 0.01). This study confirms language is important for ToM in a group of children with a neurological disorder and indicates that children with epilepsy are at risk for difficulties in understanding the mental states of others due to their language deficits. This may help to explain the social difficulties these children have with their peers.

Many randomized trials evaluate an intervention effect on time-to-event outcomes. Individual participant data (IPD) from such trials can be obtained and combined in a so-called IPD meta-analysis (IPD-MA), to summarize the overall intervention effect. We performed a narrative literature review to provide an overview of methods for conducting an IPD-MA of randomized intervention studies with a time-to-event outcome. We focused on identifying good methodological practice for modeling frailty of trial participants across trials, modeling heterogeneity of intervention effects, choosing appropriate association measures, dealing with (trial differences in) censoring and follow-up times, and addressing time-varying intervention effects and effect modification (interactions).We discuss how to achieve this using parametric and semi-parametric methods, and describe how to implement these in a one-stage or two-stage IPD-MA framework. We recommend exploring heterogeneity of the effect(s) through interaction and non-linear effects. Random effects should be applied to account for residual heterogeneity of the intervention effect. We provide further recommendations, many of which specific to IPD-MA of time-to-event data from randomized trials examining an intervention effect.We illustrate several key methods in a real IPD-MA, where IPD of 1225 participants from 5 randomized clinical trials were combined to compare the effects of Carbamazepine and Valproate on the incidence of epileptic seizures.

Background: New technologies could broaden activities for people with profound intellectual and multiple disabilities (PIMD). This study compared watching television with a newly-developed interactive ball. Method: The ball responded with sounds, lights, and wiggling to the player's voice and movements. Five control sessions (watching television) were compared to five experimental sessions (interactive ball). Observations were evaluated with 10s-partial-interval recording focussed on indicators of alertness and affect, yielding 900 measurements/participant. Data were analysed with Nonoverlap-of-All-Pairs analyses and visual inspection. Results: Four out of nine participants responded positively to the ball regarding alertness. Three of them also showed positive changes regarding affective behaviour. For three participants, responses were comparable to television sessions. Finally, responses of two participants appeared difficult to observe. Conclusions: Responses to the ball varied widely, which fits the heterogeneous character of the targetgroup. Results are reasonably encouraging when it comes to the development and implications of interactive technologies for people with PIMD.

A retrospective data analysis using 2004-2014 Healthcare Cost and Utilization Project Nationwide Inpatient Sample was conducted to examine in-hospital mortality among adults with autism spectrum disorders in the United States compared to individuals in the general population. We modeled logistic regressions to compare inpatient hospital mortality between adults with autism spectrum disorders (n = 34,237) and age-matched and sex-matched controls (n = 102,711) in a 1:3 ratio. Adults with autism spectrum disorders had higher odds for inpatient hospital mortality than controls (odds ratio = 1.44, 95% confidence interval: 1.29-1.61, p [less than] 0.001). This risk remained high even after adjustment for age, sex, race/ethnicity, income, number of comorbidities, epilepsy and psychiatric comorbidities, hospital bed size, hospital region, and hospitalization year (odds ratio = 1.51, 95% confidence interval: 1.33-1.72, p [less than] 0.001). Adults with autism spectrum disorders who experienced in-hospital mortality had a higher risk for having 10 out of 27 observed Elixhauser-based medical comorbidities at the time of death, including psychoses, other neurological disorders, diabetes, hypothyroidism, rheumatoid arthritis collagen vascular disease, obesity, weight loss, fluid and electrolyte disorders, deficiency anemias, and paralysis. The results from the interaction of sex and autism spectrum disorders status suggest that women with autism spectrum disorders have almost two times higher odds for in-hospital mortality (odds ratio = 1.95, p [less than] 0.001) than men with autism spectrum disorders. The results from the stratified analysis also showed that women with autism spectrum disorders had 3.17 times higher odds (95% confidence interval: 2.50-4.01, p [less than] 0.001) of in-hospital mortality compared to women from the non-autism spectrum disorders matched control group; this difference persisted even after adjusting for socioeconomic, clinical, and hospital characteristics (odds ratio = 2.75, 95% confidence interval: 2.09-3.64, p [less than] 0.001). Our findings underscore the need for more research to develop better strategies for healthcare and service delivery to people with autism spectrum disorders.

The most common chronic neurological condition in children is epilepsy. Because it often occurs in childhood, epilepsy is likely the most common neurological condition encountered by school professionals including teachers. Given the impact that epilepsy can have on academic functioning and specifically on the day-to-day performance of a student in the classroom, it is important for teachers to be aware not only of the presence of the disorder but also of the potential consequences and appropriate ways to handle these consequences should they arise. Herein we synthesize recommendations from several scientific sources to provide specific, evidence-based strategies that teachers of students with epilepsy can employ in the classroom as part of their naturally occurring instructional routines. These practical tips have useful application for both general and special education teachers.

Background: It is well established that valproate, and its valproic acid, sodium valproate, and valproate semisodium forms is a highly teratogenic drug and evidence suggests that use in pregnancy leads to physical birth defects in 10% of children born compared with a background rate of 2% to 3%. Congenital malformations associated with valproate are predominantly neural tube defects, clefting abnormalities, cardiovascular defects, genitourinary defects in males, and musculoskeletal defects. There is also increased risk of developmental delays and this includes delays in walking, talking, poor language skills, memory problems, and low intellectual ability in approximately 30 to 40% children born to mothers taking valproate. Furthermore, developing foetuses, if exposed to valproate in-utero, are at increased risk of autistic spectrum disorder (approximately three-fold), and also more likely to develop symptoms of attention-deficit/hyperactivity disorder. Subsequently valproate preparations prescribed to treat epilepsy are now contraindicated in pregnancy unless there is no suitable alternative treatment. In addition, valproate preparations prescribed for bipolar disorder have an absolute contraindication in pregnancy. Implications for practice: In order for valproate containing medicines to be prescribed for women of child bearing potential a risk acknowledgment form must be completed annually. For people without capacity to consent the form may be completed by a relative or other appropriate person. However, for people with intellectual disabilities, even with capacity, healthcare professionals need to ensure that the information on the form is accessible in order that they can understand it. They may not choose to give consent for a third party to complete the form on their behalf. Often intellectual disability nurses have a pivotal role, on behalf of the interdisciplinary team (IDT), in identifying women of child bearing potential who are currently prescribed valproate. Notwithstanding the IDT also has a role in engaging with patients during discussions to ensure they understand the conditions of prescribing. It is important that the IDT understand their role in patient engagement to facilitate shared decision making. Therefore, for women with intellectual disabilities with capacity, consent to treatment must be 'informed', and all risks will need to be communicated to the woman, exploring alternatives in order to comply with the Montgomery Judgement. Specialist intellectual disability nurses have a pivotal role in discussing appropriate contraceptive advice, and sign-posting women to local services. Conclusion: Valproate preparations prescribed to treat epilepsy are contraindicated in pregnancy unless there is no suitable alternative treatment; in addition, valproate preparations prescribed for bipolar disorder have an absolute contraindication in pregnancy. It is imperative that specialist intellectual disability services are able to advise the wider primary health care team on best practice. Additionally, those with prescribing responsibilities, and particularly specialist intellectual disability epilepsy nurses, along with the wider IDT, must be aware of these new regulations.

Background: Reliable and valid screening instruments for depression and anxiety are needed for adults with intellectual disabilities. Methods: Internal consistency (n = 198), inter-rater reliability (n = 41), test-retest reliability (n = 37) and criterion validity (n = 43) were studied in adults aged between 18 and 49 years. Internal consistency was also studied in a sample with epilepsy (n = 98). Results: Internal consistencies of the Dutch ADAMS total scale and subscales were satisfactory to good (a = 0.76-0.92), as well as in the subgroup with epilepsy (a = 0.74-0.88). Inter-rater reliability and test-retest reliability were fair to excellent for the total scale (ICC's: 0.57-0.84) and subscales (ICC's: 0.43-0.86). The criterion validity of the Dutch ADAMS Depressive Mood subscale was good with a sensitivity of 88% (95% CI: 53%-98%) and a specificity of 80% (95% CI: 64%-90%). Conclusions: Our study shows that the Dutch ADAMS is a reliable and valid instrument for adults aged between 18 and 49 years with intellectual disabilities (and comorbid epilepsy).

Children with disabilities demonstrate fewer complex pretend play behaviors than children with typical development, which might limit their social participation in early childhood settings. A multiple-probe design was used to examine the relation between a single prompt procedure--constant time delay--and the acquisition, maintenance, and generalization of sequences of pretend play by children with disabilities. Results indicated systematic instruction was functionally related to increased levels of unprompted and different sequences of pretend play in all three participants. However, individual adaptations were required for two of three participants. The findings replicate previous research on adult systematic instruction using response-prompting strategies to teach pretend play and extend the literature by measuring and reporting generalized sequences of pretend play. Overall, this study supports systematic, individualized instruction using response-prompting strategies to teach sequences of pretend play to children who do not display such behaviors.