1. Abbott P, Happe FG, Charlton RA. {{Exploratory Study of Executive Function Abilities Across the Adult Lifespan in Individuals Receiving an ASD Diagnosis in Adulthood}}. {J Autism Dev Disord}. 2018.
Little is known about cognition in autism spectrum disorder (ASD) across adulthood. We examined executive function abilities and autism traits in 134 adults receiving a first diagnosis of ASD. Participants aged 18-75 years with abilities in the normal range were assessed on executive function and self-report autism traits. Results suggest that for some abilities relying on speed and sequencing (Trails A and B; Digit Symbol), late-diagnosed individuals with ASD may demonstrate better performance than typical age-norms. On other executive measures (Digit Span, Hayling and Brixton tests) age-related correlations were similar to typical age-norms. Different domains of executive function may demonstrate different trajectories for ageing with ASD, with patterns of slower, accelerated or equivalent age-related change being observed across different measures.
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2. Cattane N, Richetto J, Cattaneoa A. {{Prenatal exposure to environmental insults and enhanced risk of developing Schizophrenia and Autism Spectrum Disorder: Focus on biological pathways and epigenetic mechanisms}}. {Neurosci Biobehav Rev}. 2018.
When considering neurodevelopmental disorders (NDDs), Schizophrenia (SZ) and Autism Spectrum Disorder (ASD) are considered to be among the most severe in term of prevalence, morbidity and impact on the society. Similar features and overlapping symptoms have been observed at multiple levels, suggesting common pathophysiological bases. Indeed, recent genome-wide association studies (GWAS) and epidemiological data report shared vulnerability genes and environmental triggers across the two disorders. In this review, we will discuss the possible biological mechanisms, including glutamatergic and GABAergic neurotransmissions, inflammatory signals and oxidative stress related systems, which are targeted by adverse environmental exposures and that have been associated with the development of SZ and ASD. We will also discuss the emerging role of the gut microbiome as possible interplay between environment, immune system and brain development. Finally, we will describe the involvement of epigenetic mechanisms in the maintenance of long-lasting effects of adverse environments early in life. This will allow us to better understand the pathophysiology of these NDDs, and also to identify novel targets for future treatment strategies.
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3. Fernandez A, Dor E, Maurin T, Laure G, Menard ML, Drozd M, Poinso F, Bardoni B, Askenazy F, Thummler S. {{Exploration and characterisation of the phenotypic and genetic profiles of patients with early onset schizophrenia associated with autism spectrum disorder and their first-degree relatives: a French multicentre case series study protocol (GenAuDiss)}}. {BMJ Open}. 2018; 8(7): e023330.
INTRODUCTION: Early-onset schizophrenia (EOS) is a rare and severe condition. A higher rate of neurodevelopmental abnormalities, such as intellectual or communication impairments as well as attention deficit hyperactivity disorder, is observed in EOS compared with adult-onset schizophrenia. Early signs of autism spectrum disorders (ASD) are present in about 30% of patients. Genetic abnormalities, including copy number variations, are frequent in neurodevelopmental disorders and have been associated to ASD physiopathology. Implicated genes encode proteins involved in brain development, synapses morphology and plasticity and neurogenesis. In addition, an increasing number of genetic abnormalities are shared by EOS and ASD, underlying the neurodevelopmental hypothesis of EOS.The main objective of our study is to identify disease-causing genetic mutations in a cohort of patients affected by both EOS and ASD. Special attention will be paid to genes involved in neurodevelopmental pathways. METHODS AND ANALYSIS: We describe a multicentric study in a paediatric population. The study started in April 2014. Inclusion criteria are: age 7-22 years, diagnosis of EOS with comorbid ASD and IQ >50; Parents and siblings are also enrolled. We perform psychiatric assessments (Mini International Neuropsychiatric Interview, Kiddie Schedule for Affective Disorders and Schizophrenia -Present and Lifetime Version, Positive and Negative Syndrome Scale and Scale for the Assessment of Negative Symptoms) together with neurocognitive evaluations (IQ, Trail Making Test A/B and verbal fluency). Then, we study variants of the coding part of DNA (exome), using next-generation sequencing process on trio (mother, father and child). Bioinformatics tools (RVIS and PolyPhen-2) are used to prioritise disease-causing mutations in candidate genes. The inclusion period will end in November 2019. ETHICS AND DISSEMINATION: The study protocol was approved by the Local Ethic Committee and by the French National Agency for Medicines and Health Products Safety. All patients signed informed consent on enrolment in the study. Results of the present study should help to unravel the molecular pathology of EOS, paving the way for an early therapeutic intervention. TRIAL REGISTRATION NUMBER: NCT0256552; Pre-results.
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4. Jackson JB, Steward SR, Roper SO, Muruthi BA. {{Support Group Value and Design for Parents of Children with Severe or Profound Intellectual and Developmental Disabilities}}. {J Autism Dev Disord}. 2018.
The purpose of this study was to interview parents of children with severe or profound intellectual and developmental disabilities to determine the perceived value of support groups and identify recommendations for support group design based on their experiences and feedback. Despite varied experiences with support groups, most parents indicated the value of support groups is in providing a place where parents can feel understood and both share and gather information. Parents recommended support groups be targeted for parents of children with similar disabilities and needs, have flexible structures and qualified leaders, and offer a wide variety of content in various formats. Given parental recommendations for support group design varied, summary recommendations addressing a wide range of preferences are provided.
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5. Winden KD, Ebrahimi-Fakhari D, Sahin M. {{Abnormal mTOR Activation in Autism}}. {Annual review of neuroscience}. 2018; 41: 1-23.
The mechanistic target of rapamycin (mTOR) is an important signaling hub that integrates environmental information regarding energy availability and stimulates anabolic molecular processes and cell growth. Abnormalities in this pathway have been identified in several syndromes in which autism spectrum disorder (ASD) is highly prevalent. Several studies have investigated mTOR signaling in developmental and neuronal processes that, when dysregulated, could contribute to the development of ASD. Although many potential mechanisms still remain to be fully understood, these associations are of great interest because of the clinical availability of mTOR inhibitors. Clinical trials evaluating the efficacy of mTOR inhibitors to improve neurodevelopmental outcomes have been initiated.
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6. Zuckerman KE, Chavez AE, Murillo CR, Lindly OJ, Reeder JA. {{Disparities in Familiarity with Developmental Disabilities among Low-Income Parents}}. {Academic pediatrics}. 2018.
OBJECTIVE: Parent knowledge about developmental disabilities (DDs) may facilitate access to DD care; however, parents may vary in their knowledge and familiarity with common DDs. This study aimed to assess racial/ethnic and language differences in low-income families’ familiarity, knowledge, and personal experience with DDs. METHODS: We conducted a child development survey among 539 low-income parents of young children attending visits at the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC), in six Oregon counties in 2015. Survey items assessed parent familiarity with early signs of DDs, self-reported knowledge about DDs, and personal experience with a friend or family member with a DD. Bivariable and multivariable analyses assessed differences in outcomes among non-Latino white [white], Latino-English proficient [Latino-EP], Latino-limited English proficient [Latino-LEP], and non-Latino other race English proficient [other race] parents. RESULTS: Overall, parent participants correctly identified 64.7% of early signs of DDs. White parents correctly identified the earliest signs, even after adjustment for socio-demographic factors. Latino-LEP, Latino-EP and other race parents were less likely to have heard of prevalent DDs such as ADHD and autism, and were less likely to have a friend or family member with a DD compared to white parents. CONCLUSIONS: Low-income Latino-LEP and other race parents have less familiarity or personal experience with DDs, and are less aware of DD early signs compared to low-income white parents. Study findings suggest that interventions to reduce disparities in DD diagnosis and treatment should include increasing information transfer to parents in racial/ethnic and language minority communities. WHAT’S NEW: Low-income racial/ethnic minority parents, and particularly Latinos parents with limited English proficiency, have less familiarity or personal experience with DDs, and are less aware of DD early signs compared to low-income white parents.
