Autistic spectrum disorders: A review of clinical features, theories and diagnosis

Fakhoury, Marc

doi:10.1016/j.ijdevneu.2015.04.003

Cited by 172 publications

(140 citation statements)

References 128 publications

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“…ASD is of course too complex to be completely recapitulated in any one animal model (Mayer et al, 2014). These provocative results need to be integrated with the current genetic and environmental factors associated with the development of autistic behavior (Fakhoury, 2015). Interestingly, the early-life microbial disruption induced by Caesarean section delivery is associated with an only modestly increased ASD risk in epidemiological studies (Curran et al, 2015b) that may in fact be due to due to familial confounding (Curran et al, 2015a).…”

Section: Introductionmentioning

confidence: 99%

Growing up in a Bubble: Using Germ-Free Animals to Assess the Influence of the Gut Microbiota on Brain and Behavior

Luczynski

Neufeld

Oriach

et al. 2016

IJNPPY

470

321

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There is a growing recognition of the importance of the commensal intestinal microbiota in the development and later function of the central nervous system. Research using germ-free mice (mice raised without any exposure to microorganisms) has provided some of the most persuasive evidence for a role of these bacteria in gut-brain signalling. Key findings show that the microbiota is necessary for normal stress responsivity, anxiety-like behaviors, sociability, and cognition. Furthermore, the microbiota maintains central nervous system homeostasis by regulating immune function and blood brain barrier integrity. Studies have also found that the gut microbiota influences neurotransmitter, synaptic, and neurotrophic signalling systems and neurogenesis. The principle advantage of the germ-free mouse model is in proof-of-principle studies and that a complete microbiota or defined consortiums of bacteria can be introduced at various developmental time points. However, a germ-free upbringing can induce permanent neurodevelopmental deficits that may deem the model unsuitable for specific scientific queries that do not involve early-life microbial deficiency. As such, alternatives and complementary strategies to the germ-free model are warranted and include antibiotic treatment to create microbiota-deficient animals at distinct time points across the lifespan. Increasing our understanding of the impact of the gut microbiota on brain and behavior has the potential to inform novel management strategies for stress-related gastrointestinal and neuropsychiatric disorders.

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Section: Introductionmentioning

confidence: 99%

Growing up in a Bubble: Using Germ-Free Animals to Assess the Influence of the Gut Microbiota on Brain and Behavior

Luczynski

Neufeld

Oriach

et al. 2016

IJNPPY

470

321

View full text Add to dashboard Cite

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“…14,25 Tuberous sclerosis complex and other rarer syndromes where ASD and epilepsy both occur are examples where different etiologies lead to both ASD and epilepsy. There are most likely different factors influencing the core mechanisms behind epilepsy and ASD (their core mechanisms being close or similar), bringing the patient to a tipping point where one or both disorders develop.…”

mentioning

confidence: 99%

Autism and epilepsy

et al. 2016

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Objective: To investigate the risk of autism spectrum disorder (ASD) in individuals with epilepsy and in their first-degree relatives to determine shared etiology.Methods: Through the Swedish Patient Register, we identified 85,201 individuals with epilepsy, as well as all their siblings (n 5 80,511) and offspring (n 5 98,534). Each individual with epilepsy was compared with 5 controls, matched for age, sex, calendar period, and county, while siblings and offspring were compared with siblings and offspring of controls. We excluded siblings and offspring with epilepsy. Using Cox regression, we calculated hazard ratios (HRs) for future diagnosis of ASD. Logistic regression was applied to calculate odds ratios (ORs) for prior diagnosis of ASD.Results: During follow-up, 1,381 (1.6%) individuals with epilepsy and 700 (0.2%) controls were diagnosed with ASD. Individuals with epilepsy were therefore at increased risk of future ASD (HR 10.49, 95% confidence interval [CI] 9.55-11.53), with the highest risk seen in individuals diagnosed with epilepsy in childhood. Both siblings (HR 1.62, 95% CI 1.43-1.83) and offspring (HR 1.64, 95% CI 1.46-1.84) of epilepsy patients were at increased risk of ASD. The risk in the offspring was particularly high in mothers with epilepsy (HR 1.91; 95% CI 1.63-2.23). Epilepsy was also associated with a prior diagnosis of ASD (OR 4.56, 95% CI 4.02-5.18). According to the definition of the International League Against Epilepsy, "epilepsy is a disorder of the brain characterized by an enduring predisposition to generate epileptic seizures and by the neurobiologic, cognitive, psychological, and social consequences of this condition." Conclusions:1 Epilepsy frequently co-occurs with psychiatric disturbances, such as mood and anxiety disorders and autism spectrum disorder (ASD). 1 ASD is a neurodevelopmental disorder characterized by impairment in social interaction and communication and restricted, repetitive, or stereotypic behavior, interests, and activities. The strength and nature of the association between epilepsy and ASD have been scarce and difficult to interpret. A US study of health care data, a British psychiatric morbidity survey, and a prospective screening study all found that ASD as a comorbidity in patients with epilepsy had a prevalence between 1.3% and 21% and an odds ratio (OR) between 6 and 22.

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“…While the cause remains unclear, it is likely a combination of environmental and genetic factors [14]. Symptoms can include differences in reciprocal socio-communicative interaction with non-autistic people as well as repetitive interests and behaviours, which are also the main diagnostic criteria.…”

Section: Autism and Sense Makingmentioning

confidence: 99%

Participatory Evaluation with Autistic Children

Spiel

Malinverni

Good

et al. 2017

Proceedings of the 2017 CHI Conference on Human Factors in Computing Systems

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Participatory Design (PD) has become a standard methodology in HCI, however, the evaluation of the outcomes of participatory processes is often exclusively driven by researcher defined measures of success. Through our work with autistic children, who have radically different life worlds from our own, it became evident that their criteria for the success of a project are most likely also very different. In order to address the limitations of researcher defined and led evaluations in this context, we developed an approach for participatory evaluation called PEACE (Participatory Evaluation with Autistic ChildrEn). Using this approach, we were able to include autistic children in dedicated evaluation phases through the co-definition of goals and methods, joint processes of data gathering and the co-interpretation of results. We discuss three case studies in which we successfully applied our approach and conclude with a reflection on the novel insights created through participatory evaluation and researchers' roles in such a process.

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Autistic spectrum disorders: A review of clinical features, theories and diagnosis

Cited by 172 publications

References 128 publications

Growing up in a Bubble: Using Germ-Free Animals to Assess the Influence of the Gut Microbiota on Brain and Behavior

Growing up in a Bubble: Using Germ-Free Animals to Assess the Influence of the Gut Microbiota on Brain and Behavior

Autism and epilepsy

Participatory Evaluation with Autistic Children

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