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OBJECTIVE: To review pharmacologic and nonpharmacologic strategies for treating sleep disturbances in children and adolescents with autism spectrum disorder (ASD) and to develop recommendations for addressing sleep disturbance in this population. METHODS: The guideline panel followed the American Academy of Neurology 2011 guideline development process, as amended. The systematic review included studies through December 2017. Recommendations were based on evidence, related evidence, principles of care, and inferences. MAJOR RECOMMENDATIONS LEVEL B: For children and adolescents with ASD and sleep disturbance, clinicians should assess for medications and coexisting conditions that could contribute to the sleep disturbance and should address identified issues. Clinicians should counsel parents regarding strategies for improved sleep habits with behavioral strategies as a first-line treatment approach for sleep disturbance either alone or in combination with pharmacologic or nutraceutical approaches. Clinicians should offer melatonin if behavioral strategies have not been helpful and contributing coexisting conditions and use of concomitant medications have been addressed, starting with a low dose. Clinicians should recommend using pharmaceutical-grade melatonin if available. Clinicians should counsel children, adolescents, and parents regarding potential adverse effects of melatonin use and the lack of long-term safety data. Clinicians should counsel that there is currently no evidence to support the routine use of weighted blankets or specialized mattress technology for improving disrupted sleep. If asked about weighted blankets, clinicians should counsel that the trial reported no serious adverse events with blanket use and that blankets could be a reasonable nonpharmacologic approach for some individuals.

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The association of epilepsy and autism spectrum disorders (ASD) is best understood by examining the relationship between social cognition, nonsocial cognition, and epilepsy. The relationship between ASD and epilepsy is bidirectional and is strongly linked to intellectual disability (ID). The risk of developing ASD in children with epilepsy is highest in children with early onset seizures, with a high prevalence in children with infantile spasms. The risk of developing epilepsy in children first diagnosed with ASD is highest in those with ID. The prevalence of seizures in ASD increases with age. When epilepsy and ASD coexist, they share common pathophysiological mechanisms. In epilepsy with and without ID, social-cognitive deficits are an important determinant of neurodevelopmental outcomes. Early recognition of social deficits is an important aspect of the comprehensive management of children with epilepsy. Treating the seizures in individuals with epilepsy and ASD is crucial but interventions that address social-cognitive deficits are necessary to maximize neurodevelopmental outcomes.

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Autism spectrum disorders and epilepsy commonly co-occur. In this review, we consider some unresolved questions regarding the temporal relationship, causal mechanisms, and clinical stratification of this comorbidity, highlighting throughout the interplay between autism spectrum disorder, epilepsy, and intellectual disability. We present data on the clinical characterization of children with autism spectrum disorder and epilepsy, discussing distinctive phenotypes in children with this comorbidity. Although some distinctive clinical features emerge, this comorbidity also informs convergent pathways in genetic variants that cause synaptic dysfunction. We then move beyond diagnostic categorization and consider the extent to which electrophysiology as a quantitative biomarker may help guide efforts in clinical stratification and outcome prediction. Epilepsy, and atypical electrophysiological patterns, in autism spectrum disorder may inform the definition of biologically meaningful subgroups within the spectrum that, in turn, can shed light on potential targets for intervention.

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The association of epilepsy, autism spectrum disorders (ASD), and intellectual disability (ID) is well recognized. There is a wide range of social-cognitive deficits that can be identified in epilepsy over the life-span, from ASD in infants with an epileptic encephalopathy, to social-cognitive impairments affecting social interaction and comprehension in those with normal nonsocial cognitive function. Identifying ASD and social-cognitive deficits is an important aspect of comprehensive epilepsy care. There are behavioral and educational interventions that exist to treat ASD and social-cognitive deficits. These behavioral, communication, and educational interventions, in conjunction with medications to treat the seizures, should be considered an integral part of the comprehensive management of epilepsy throughout the life-span. The following are the key points of this review: Autism spectrum disorders and social-cognitive deficits are associated with epilepsy throughout the life-span, and identification of these deficits is an important part of epilepsy care.Children with an epileptic encephalopathy such as infantile spasms are at high risk for developing ASD, and the social-cognitive deficits that precede ASD may be recognized in the first year of life.In epilepsy, the likelihood of developing autism spectrum disorders is highest in those with ID, but there is a wide spectrum of manifestations, from ASD in children with epilepsy and ID, to social-cognitive impairments affecting social interaction and comprehension in those with normal nonsocial cognitive function.Implementation of behavioral, communication, and educational interventions that exist to treat ASD and social-cognitive deficits, along with medications to treat the seizures, should be considered an important part of the comprehensive management of epilepsy throughout the life-span.

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The association of epilepsy and autism spectrum disorders (ASD), although well-recognized, is poorly understood. The purpose of this report is to summarize the discussion of a workshop sponsored by the National Institute of Neurological Disorders and Stroke, with support from the National Institute of Child Health and Human Development, Autism Speaks, and Citizens United for Research in Epilepsy, that took place in Bethesda, Maryland, on May 29 and 30, 2012. The goals of this workshop were to highlight the clinical and biological relationships between ASD and epilepsy, to determine both short- and long-term goals that address research and treatment conundrums in individuals with both ASD and epilepsy, and to identify resources that can further both clinical and basic research. Topics discussed included epidemiology, genetics, environmental factors, common mechanisms, neuroimaging, neuropathology, neurophysiology, treatment, and research gaps and challenges in this unique population.

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Epilepsy is, of course, not one disease but rather a huge number of disorders that can present with seizures. In common, they all reflect brain dysfunction. Moreover, they can affect the mind and, of course, behavior. While animals too may suffer from epilepsy, as far as we know, the electrical discharges are less likely to affect the mind and behavior, which is not surprising. While the epileptic seizures themselves are episodic, the mental and behavioral changes continue, in many cases, interictally. The episodic mental and behavioral manifestations are more dramatic, while the interictal ones are easier to study with anatomical and functional studies. The following extended summaries complement those presented in Part 1.

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Autism spectrum disorder (ASD) is a term used to describe a heterogeneous group of children whose behaviorally defined characteristics overlap with the clinical manifestations of a variety of distinct behaviorally defined developmental disorders. ASD has many etiologies and strong but complex genetic and molecular underpinnings supporting genetic and phenotypic heterogeneity. Clinical and biological heterogeneity in ASD is consistent with the view of autism spectrum disorders as the expression of atypical brain development resulting in variable clinical manifestations that reflect differences in specific genetic and molecular pathways. It is likely that there are risk genes and early environmental risk factors for ASD that contribute to an altered trajectory of brain and behavioral development. These alterations are hypothesized to lead to altered social interaction and consequently to abnormal development of the neural networks critical for social and communicative interaction. This amplifies the abnormal socio-communicative developmental process leading to the full ASD syndrome. The hope is that interventions can alter these early developmental processes and put an infant back on a more typical developmental trajectory. In this discussion an overview of the limitations of the triad of behaviors used to diagnose ASD, specifically from the perspective of how these issues impact diagnosis and treatment of children with ASD will be presented and the clinical boundaries of the autism spectrum will be explored.

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PURPOSE OF REVIEW: The association of epilepsy, autism spectrum disorders (ASD) and social cognition is now well recognized. The overlap of these disorders is generating increasing scientific and clinical interest as the comprehensive management of epilepsy has expanded to include the cognitive and social consequences commonly being recognized as an integral part of epilepsy disorders. RECENT FINDINGS: Recent studies have shown that in individuals with ASD and intellectual disability the rate of epilepsy is as high as 20%. In those with ASD and no intellectual disability the rates of epilepsy are approximately 8%. In epilepsy those most likely to have ASD are those with intellectual disability. There is limited information regarding how often ASD impacts epilepsy and less data on the effect of epilepsy on social cognition. There is a convergence of evidence that when epilepsy coexists with ASD and intellectual disability they share etiopathogenic mechanisms. SUMMARY: There is a significant and important overlap between epilepsy and ASD and this has important implications for comprehensive care of all individuals with epilepsy. Early recognition of social deficits is essential. Treating the seizures in individuals with epilepsy and ASD is not enough. Clinicians need to be aware of and implement interventions that address the social-cognitive deficits.

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El trastorno del espectro autista (TEA) es un término utilizado para describir un grupo heterogéneo de niños, cuyas características comportamentales se solapan con manifestaciones clínicas de diversos trastornos del desarrollo, definido por su comportamiento. El TEA se debe a muchas etiologías, y su heterogeneidad genética y fenotípica es consistente con bases moleculares clínicas y genéticas complejas, pero significativas. La heterogeneidad clínica y biológica del TEA es congruente con el punto de vista de que el TEA es la expresión de un desarrollo cerebral atípico que da lugar a manifestaciones clínicas variables, que reflejan diferentes vías genéticas y moleculares específicas. Es probable que existan genes de riesgo y factores precoces del entorno para el TEA que contribuyan a una trayectoria aberrante del desarrollo cerebral y de la conducta. Estas alteraciones llevan, hipotéticamente, a una interacción social alterada y, como resultado, al desarrollo anormal de redes neuronales críticas para la interacción comunicativa y social. Todo ello amplifica el desarrollo del proceso sociocomunicativo anormal, dando lugar a un síndrome de TEA completo. Hay esperanza en que la intervención temprana pueda alterar estos problemas precoces del desarrollo y reconducir al niño a una trayectoria evolutiva más típica. Se discuten las limitaciones de la tríada conductual utilizada para el diagnóstico del TEA, especialmente se presentará una perspectiva de cómo estos resultados afectan el diagnóstico y tratamiento de los niños con TEA y de las fronteras clínicas del espectro autista (AU)

Autism spectrum disorder (ASD) is a term used to describe a heterogeneous group of children whose behaviorally defined characteristics overlap with the clinical manifestations of a variety of distinct behaviorally defined developmental disorders. ASD has many etiologies and strong but complex genetic and molecular underpinnings supporting genetic and phenotypic heterogeneity. Clinical and biological heterogeneity in ASD is consistent with the view of autism spectrum disorders as the expression of atypical brain development resulting in variable clinical manifestations that reflect differences in specific genetic and molecular pathways. It is likely that there are risk genes and early environmental risk factors for ASD that contribute to an altered trajectory of brain and behavioral development. These alterations are hypothesized to lead to altered social interaction and consequently to abnormal development of the neural networks critical for social and communicative interaction. This amplifies the abnormal socio-communicative developmental process leading to the full ASD syndrome. The hope is that interventions can alter these early developmental processes and put an infant back on a more typical developmental trajectory. In this discussion an overview of the limitations of the triad of behaviors used to diagnose ASD, specifically from the perspective of how these issues impact diagnosis and treatment of children with ASD will be presented and the clinical boundaries of the autism spectrum will be explored (AU)

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Epilepsy co-occurs frequently in autism spectrum disorders (ASD). Understanding this co-occurrence requires a better understanding of the ASD-epilepsy phenotype (or phenotypes). To address this, we conducted latent class cluster analysis (LCCA) on an ASD dataset (N = 577) which included 64 individuals with epilepsy. We identified a 5-cluster solution with one cluster showing a high rate of epilepsy (29%), earlier age at first recognition, and high rates of repetitive object use and unusual sensory interests. We also conducted LCCA on an ASD-epilepsy subset from the overall dataset (N = 64) which yielded three clusters, the largest of which had impairments in language and motor development; the remaining clusters, while not as developmentally impaired were characterized by different levels of repetitive and sensory behaviors.

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Previous studies show higher mortality rates among individuals with autism than the general population. Comorbidity with epilepsy is an assumed, often ill-defined factor in the increased mortality rates of individuals with autism. Data from the Autism Tissue Program, a tissue donation program established to support biomedical research on autism, show that approximately one-third of its brain donors with autism also had epilepsy. Analysis of new data from the California State Department of Developmental Services is consistent with past reports showing that there is a higher than expected rate of mortality in individuals with autism and epilepsy than autism alone. Accurate, complete and accessible records on cause of death are necessary not just for brain research, but also for understanding risk factors that contribute to early death in individuals with autism spectrum disorders. Various national health care and state developmental disability agency initiatives to reduce risk of mortality are described.

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The prevalence of autism spectrum disorders for children with epilepsy in the general population is unknown. In a prospective community-based study of newly diagnosed childhood epilepsy, autism spectrum disorder was determined from parental interviews, medical records, and expert reviews by a child psychiatrist. A total of 28 (5%) participants had autism spectrum disorders. West syndrome (prevalence ratio = 4.53, P = .002) and intellectual impairment (prevalence ratio = 4.34, P = .002) were independently associated with autism spectrum disorder. Absent West syndrome, male gender was associated with autism spectrum disorder (prevalence ratio = 3.71, P = .02). For participants with overall normal cognitive abilities, 2.2% had autism spectrum disorder, which is substantially higher than estimates from the general population (0.5%-0.9%). In addition to West syndrome, which has repeatedly been shown to have a special relationship with autism spectrum disorder, the most important determinants of autism spectrum disorder in the general population (intellectual impairment and male sex) are also important in young people with epilepsy.

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Epilepsy and autism coexist in up to 20% of children with either disorder. Current studies suggest that a frequent co-occurring condition in epilepsy and autism is intellectual disability, which shows a very high prevalence in those with both autism and epilepsy. In addition, these recent studies suggest that early-onset seizures may index a group of infants at high risk for developing autism, usually with associated intellectual deficits. In this review we discuss recent advances in the conceptualization of shared anatomical and molecular mechanisms that may account for the coexistence of epilepsy, autism, and intellectual disability. A major contribution to our improved understanding of the relationship among these three phenotypes is the discovery of multiple genomic variants that cut across them as well as other neurobehavioral phenotypes. As these discoveries continue they are very likely to elucidate causal mechanisms for the various phenotypes and pinpoint biologic pathways that may be amenable to therapeutic interventions for this group of neurodevelopmental disorders.

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The biological and phenotypic heterogeneity of children with autism spectrum disorders (ASD) and epilepsy presents a significant challenge to the development of effective treatment protocols. There is no single treatment or treatment protocol for children with ASD or epilepsy. Children with co-occurring ASD and epilepsy should undergo a comprehensive assessment that includes investigation of underlying biological etiologies as well assessment of cognitive, language, affective, social and behavioral function prior to initiating treatment. The comprehensive treatment of children with ASD is based on a combination of therapeutic psychosocial interventions in combination with pharmacological agents. A process-oriented approach to assessment and intervention allows careful analysis of the child's response to treatment such that treatment protocols may be revised secondary to any changes in developmental trajectory of the child with ASD and epilepsy. The possibility of developing pharmacological interventions that target both ASD and epilepsy awaits definitive evidence. The best hope for good developmental outcomes in children with ASD and epilepsy is early recognition and comprehensive treatment of both the ASD and epilepsy.

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