1. Arberas C, Ruggieri V. {{[Autism. Genetic and biological aspects]}}. {Medicina}. 2019; 79 Suppl 1: 16-21.
Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with interests restricted and stereotyped behaviors with a high population prevalence, neurobiological bases and high heritability. Its etiology is heterogeneous, numerous genetic bases, environmental factors and epigenetic mechanisms have been recognized. Advances in molecular genetics, as well as epidemiological studies of large cohorts, have made it possible to identify specific medical entities, as well as genes and environmental factors partially or totally linked in their pathogenesis. This knowledge, according to the clinical characteristics, allows to guide the complementary studies, the therapeutic conducts, to infer a clinical prognosis and to propitiate the familiar genetic advice. In this work, the most prevalent clinical characteristics identified are described; the specific medical entities that are strongly related to autism are stated, as well as the recognized genes, the possible environmental factors and the epidemiological results that allow family counseling.
2. Davenport EC, Szulc BR, Drew J, Taylor J, Morgan T, Higgs NF, Lopez-Domenech G, Kittler JT. {{Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition}}. {Cell reports}. 2019; 26(8): 2037-51.e6.
Altered excitatory/inhibitory (E/I) balance is implicated in neuropsychiatric and neurodevelopmental disorders, but the underlying genetic etiology remains poorly understood. Copy number variations in CYFIP1 are associated with autism, schizophrenia, and intellectual disability, but its role in regulating synaptic inhibition or E/I balance remains unclear. We show that CYFIP1, and the paralog CYFIP2, are enriched at inhibitory postsynaptic sites. While CYFIP1 or CYFIP2 upregulation increases excitatory synapse number and the frequency of miniature excitatory postsynaptic currents (mEPSCs), it has the opposite effect at inhibitory synapses, decreasing their size and the amplitude of miniature inhibitory postsynaptic currents (mIPSCs). Contrary to CYFIP1 upregulation, its loss in vivo, upon conditional knockout in neocortical principal cells, increases expression of postsynaptic GABAA receptor beta2/3-subunits and neuroligin 3, enhancing synaptic inhibition. Thus, CYFIP1 dosage can bi-directionally impact inhibitory synaptic structure and function, potentially leading to altered E/I balance and circuit dysfunction in CYFIP1-associated neurological disorders.
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3. Gyawali S, Patra BN. {{Trends in concept and nosology of autism spectrum disorder: A review}}. {Asian J Psychiatr}. 2019; 40: 92-9.
Autism Spectrum Disorder is a neurodevelopmental disorder characterized by persistent deficits in social communication, social interaction and restricted, repetitive patterns of behavior, interests or activities. The concept of autism has changed since its inception, from childhood schizophrenia to neuro-variation. These changes in concept have been accompanied by changes in the diagnostic threshold through which the ‘case’ of autism is identified. The occurrence of multiple changes in its diagnostic criteria over last 80 odd years opens up the possibility of challenges being posed to the existence of the disorder as it is today, with a possibility of newer conceptualization of autism coming up in the future. The potential consequences of the changes in its nosology and concept, such as those on the management and on prevalence estimation are some of the essential issues which need attention. In the current paper, we evaluate the evolution of the concept and nosology of autism with an overview of the accompanying impact of these changes.
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4. Harlalka V, Bapi RS, Vinod PK, Roy D. {{Atypical Flexibility in Dynamic Functional Connectivity Quantifies the Severity in Autism Spectrum Disorder}}. {Front Hum Neurosci}. 2019; 13: 6.
Resting-state functional connectivity (FC) analyses have shown atypical connectivity in autism spectrum disorder (ASD) as compared to typically developing (TD). However, this view emerges from investigating static FC overlooking the whole brain transient connectivity patterns. In our study, we investigated how age and disease influence the dynamic changes in functional connectivity of TD and ASD. We used resting-state functional magnetic resonance imaging (rs-fMRI) data stratified into three cohorts: children (7-11 years), adolescents (12-17 years), and adults (18+ years) for the analysis. The dynamic variability in the connection strength and the modular organization in terms of measures such as flexiblity, cohesion strength, and disjointness were explored for each subject to characterize the differences between ASD and TD. In ASD, we observed significantly higher inter-subject dynamic variability in connection strength as compared to TD. This hyper-variability relates to the symptom severity in ASD. We also found that whole-brain flexibility correlates with static modularity only in TD. Further, we observed a core-periphery organization in the resting-state, with Sensorimotor and Visual regions in the rigid core; and DMN and attention areas in the flexible periphery. TD also develops a more cohesive organization of sensorimotor areas. However, in ASD we found a strong positive correlation of symptom severity with flexibility of rigid areas and with disjointness of sensorimotor areas. The regions of the brain showing high predictive power of symptom severity were distributed across the cortex, with stronger bearings in the frontal, motor, and occipital cortices. Our study demonstrates that the dynamic framework best characterizes the variability in ASD.
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5. Hervas A, Romaris P. {{[Functional adaptation and disorders of the autistic spectrum]}}. {Medicina}. 2019; 79 Suppl 1: 10-5.
Autism spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present stereotyped behaviors; 30% of the cases diagnosed with ASD have intellectual disability and 2/3 an intellectual capacity within the norm. Although cognitive ability is related to better functional adaptation, however, the vast majority of people with ASD in adulthood have limited autonomy and are dependent on adults. In this article we review the concept of functional adaptation, its relationship with ASD, factors that influence a better functional adaptation, how to evaluate it and implications for treatment. Functional adaptation in ASD is an essential concept, related to prognosis. The knowledge of the factors involved in the functional adaptation and its measure will facilitate the incorporation of very relevant aspects for treatment.
6. Holmes LG, Strassberg DS, Himle MB. {{Family Sexuality Communication for Adolescent Girls on the Autism Spectrum}}. {J Autism Dev Disord}. 2019.
Families are critical for supporting healthy sexuality and relationship development for youth with autism. The objective of this study was to describe family sexuality communication for adolescent girls with autism. Participants were 141 parents of autistic daughters who completed an online survey about sexuality development. Most parents relied on discussion alone rather than visual supports or skills-based teaching techniques. Intellectual functioning, child age, race/ethnicity, and whether youth expressed sexual interest in others affected family sexuality communication. We discuss how most parents covered important basics, but many did not cover more nuanced relationship or sexual health topics during family sexuality communication. Few used enhanced instructional techniques (e.g., visual supports, social stories), suggesting potential utilization barriers such as a lack of affordable and available resources. There is a need for research accounting for diverse racial/ethnic backgrounds, sexual orientations including asexuality/demisexuality, and for transgender and gender diverse youth.
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7. Hrdlicka M, Kudr M, Krsek P, Tichy M, Kyncl M, Zamecnik J, Mohaplova M, Dudova I. {{Recovery from Autism after Successful Surgery for a Benign Brain Tumor Associated with Epilepsy}}. {J Autism Dev Disord}. 2019.
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8. Malaga I, Blanco-Lago R, Hedrera-Fernandez A, Alvarez-Alvarez N, Orena-Ansonera VA, Baeza-Velasco M. {{[Prevalence of autism spectrum disorders in USA, Europe and Spain: coincidences and discrepancies]}}. {Medicina}. 2019; 79 Suppl 1: 4-9.
Autism spectrum disorders are a heterogeneous group of disorders that share the presence of two core symptoms: problems in social interaction / communication and the tendency to present restricted interests and repetitive behavior. Over the last years, several epidemiologic studies have been published by different authors in diverse countries, having all of them shown two common characteristics: a global increase in the prevalence rates of autism spectrum disorders, and the existence of a great geographical variability no only between geographical areas, but also within the same geographical areas. At the present manuscript, we analyze some of the most recent prevalence data published in USA and some European countries (including Spain). All of them show different prevalence rates, ranging from 1/59 children with autism spectrum disorders in the USA to 1/806 in Portugal. In a second part, we briefly describe some of the current scientific hypotheses that try to explain this variability.
9. Martinez-Morga M, Paz Quesada M, Bueno C, Martinez S. {{[Neurobiological bases of autism and cellular models for its experimental study]}}. {Medicina}. 2019; 79 Suppl 1: 27-32.
Autism Spectrum Disorders (ASD) are a functional alteration of the cerebral cortex, which presents structural neurodevelopmental anomalies that affect synaptic function and the pattern of connections within and between cortical columns. From its etiological aspect, ASD has an important genetic load, considering a polygenic disorder, derived from a combination of « de novo » genetic mutations, associated to a predisposition derived from common inherited variations. The main genetic anomalies associated with ASD involve genes that encode proteins of the synapse. Thus, in patients with ASD, alterations in the initial development of the synapses have been described in the connection circuits between complex processing cortical areas. The molecular complexity observed in the predisposition to develop an ASD, together with the diversity of structural phenotypes, has made animal models reproduce only partially the ASD. To advance in the experimental study it is therefore necessary to develop representative models, such as cellular models derived from human cells. In recent decades, the advances in stem cell biology give us a way to apply experimental paradigms in cells derived from individuals with ASD. Currently, induced pluripotent cells (IPs) derived from human adult cells allow deepening the study of molecular and cellular bases of the neuronal development in humans, as well as the anomalies in this development, which give rise to disorders such as ASD. However, they present inherent problems derived from the experimental manipulation that involves the reprogramming of gene expression, therefore other models are also been explored.
10. Mira A, Berenguer C, Baixauli I, Rosello B, Miranda A. {{[Family context of children with autism. Implications for emotional and social development]}}. {Medicina}. 2019; 79 Suppl 1: 22-6.
Families of children with autism spectrum disorder (ASD) can be differentiated according to sociodemographics and environmental risk factors characterized by stress parental, the use of coping strategies and social support. The aim of this study was to analyze the behavioral, emotional and social manifestations of children with ASD, related to different types of families characterized according risk factors as families with « high risk », with « moderated risk » and with « low risk ». Participants were 52 mothers and their children between 7 and 11 years old with ASD without intellectual disability. All mothers provided information about children’s behavior through the Strengths and Difficulties Questionnaire, which includes the following scales: emotional symptoms, behavioral problems, hyperactivity/inattention, peer problems and prosocial behavior. Comparisons analysis showed that children belonging to the high family risk group exhibited less prosocial behaviors and a higher level of emotional problems compared to the low risk group. The findings from the present study illustrate the importance of considering the characteristics of entire family system in the emotional and social development of children with ASD. The role of family counseling to enhance emotional regulation skills and prosocial behaviors is underlined due to their impact on long-term social adjustment.
11. Nicholson T, Williams DM, Grainger C, Lind SE, Carruthers P. {{Relationships between implicit and explicit uncertainty monitoring and mindreading: Evidence from autism spectrum disorder}}. {Consciousness and cognition}. 2019; 70: 11-24.
We examined performance on implicit (non-verbal) and explicit (verbal) uncertainty-monitoring tasks among neurotypical participants and participants with autism, while also testing mindreading abilities in both groups. We found that: (i) performance of autistic participants was unimpaired on the implicit uncertainty-monitoring task, while being significantly impaired on the explicit task; (ii) performance on the explicit task was correlated with performance on mindreading tasks in both groups, whereas performance on the implicit uncertainty-monitoring task was not; and (iii) performance on implicit and explicit uncertainty-monitoring tasks was not correlated. The results support the view that (a) explicit uncertainty-monitoring draws on the same cognitive faculty as mindreading whereas (b) implicit uncertainty-monitoring only test first-order decision making. These findings support the theory that metacognition and mindreading are underpinned by the same meta-representational faculty/resources, and that the implicit uncertainty-monitoring tasks that are frequently used with non-human animals fail to demonstrate the presence of metacognitive abilities.
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12. Rubinsztein JS. {{Asperger’s Children: The Origins of Autism in Nazi Vienna By Edith Sheffer. W.W. Norton and Company. 2018. 320 pp. pound18.99 (hb). ISBN 9780393609646}}. {The British journal of psychiatry : the journal of mental science}. 2019; 214(3): 176.
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13. Sayed Javad Javaheri ES, Bigdeli MR, Zibaii MI, Dargahi L, Pouretemad HR. {{Optogenetic Stimulation of the Anterior Cingulate Cortex Ameliorates Autistic-Like Behaviors in Rats Induced by Neonatal Isolation, Caudate Putamen as a Site for Alteration}}. {Neuromolecular medicine}. 2019.
Epigenetic agents, such as neonatal isolation during neurodevelopmental period of life, can change various regions of the brain. It may further induce psychological disorders such as autistic-like phenomena. This study indicated the role of chronic increased anterior cingulate cortex (ACC) output on alteration of caudate putamen (CPu) as a main behavior regulator region of the brain in adult maternal deprived (MD) rats. For making an animal model, neonates were isolated from their mothers in postnatal days (PND 1-10, 3 h/day). Subsequently, they bilaterally received pLenti-CaMKIIa-hChR2 (H134R)-mCherry-WPRE virus in ACC area via stereotaxic surgery in PND50. After 22 days, these regions were exposed to blue laser (473 nm) for six consecutive days (15 min/day). Then, behavioral deficits were tested and were compared with control group in the following day. Animals were immediately killed and their brains were prepared for tissue processing. Results showed that neonatal isolation induces autistic-like behaviors and leads to overexpression of NMDAR1 and Nox2-gp91(phox) proteins and elevation of catalase activity in the CPu regions of the adult offspring compared with control group. Chronic optogenetic stimulation of ACC neurons containing (ChR2+) led to significant reduction in the appearance of stereotypical behavior and alien-phobia in MD rats. The amount of NMDAR1 and Nox2-gp91(phox) expression and the catalase activity in CPu were reduced after this treatment. Therefore, autistic-like behavior seems to be related with elevation of NMDAR1 and Nox2-gp91(phox) protein levels that enhance the effect of glutamatergic projection on CPu regions. Optogenetic treatment also could ameliorate behavioral deficits by modulating these protein densities.
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14. Shapira SK, Tian LH, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Yeargin-Allsopp M, Schieve LA. {{A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development}}. {J Autism Dev Disord}. 2019.
The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential markers for understanding causes and prognoses. To evaluate dysmorphology in ASD, children aged 3-6 years with ASD and non-ASD population controls (POP) from the Study to Explore Early Development were evaluated using a novel, systematic dysmorphology review approach. Separate analyses were conducted for non-Hispanic White, non-Hispanic Black, and Hispanic children. In each racial/ethnic group, ~ 17% of ASD cases were Dysmorphic compared with ~ 5% of POP controls. The ASD-POP differential was not explained by known genetic disorders or birth defects. In future epidemiologic studies, subgrouping ASD cases as Dysmorphic vs. Non-dysmorphic might help delineate risk factors for ASD.
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15. Thurman AJ, Hoyos Alvarez C. {{Language Performance in Preschool-Aged Boys with Nonsyndromic Autism Spectrum Disorder or Fragile X Syndrome}}. {J Autism Dev Disord}. 2019.
In the present study, language performance on standardized assessments (e.g., overall verbal performance, receptive and expressive vocabulary) and spontaneous language produced in play was compared between preschool-aged boys with autism spectrum disorder (nASD, n = 25) and boys with fragile X syndrome (FXS, n = 16). At the group-level, we observed weaknesses in the language skills of boys with nASD relative to those with FXS (e.g., when considering raw score performance, standard score performance relative to nonverbal cognitive skills, frequency of talk in play), after controlling for nonverbal IQ and ASD symptom severity. Moreover, although individually most children in both groups demonstrated language delays relative to CA-expectations, language delays relative to nonverbal level-expectations were more common in boys with nASD.
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16. Tonacci A, Calderoni S, Billeci L, Maestro S, Fantozzi P, Ciuccoli F, Morales MA, Narzisi A, Muratori F. {{Autistic traits impact on olfactory processing in adolescent girls with Anorexia Nervosa restricting type}}. {Psychiatry Res}. 2019; 274: 20-6.
The correct functioning of the chemosensory pathway is pivotal for the attitude towards feeding. In some neuropsychiatric disorders, abnormalities of the sensory processing dramatically affect feeding behavior; however, evidences for an olfactory involvement in Anorexia Nervosa (AN) are still controversial. We administered a complete olfactory testing battery, the Sniffin’ Sticks Extended Test, to a cohort of 19 girls with Restrictive Anorexia Nervosa (AN-R) and 19 healthy controls. A battery of questionnaires aiming to evaluate eating attitude, psychopathologic disorders and autistic traits was also administered. No difference was found between the two groups in any of the olfactory tasks. Despite the lack of correlation between olfaction and disease severity, however, olfactory performances were related to autistic traits in anorectic girls (r=-0.489, p=0.039). Girls with AN-R do not appear to have an impaired olfactory function with respect to controls. However, a possible correlation between olfactory ability and autistic traits was discovered. In light of such findings, the role of possible relations between social functioning-related features and olfactory processing in AN-R is discussed.
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17. Tuchman R. {{[Editorial. Neurodevelopment and autism]}}. {Medicina}. 2019; 79 Suppl 1: 2-3.
18. Tudela Torras M, Abad Mas L. {{[Reduction of dysfunctional self-injurious and self-stimulatory behaviors in autism disorders spectrum through occupational therapy]}}. {Medicina}. 2019; 79 Suppl 1: 38-43.
Self-stimulatory and self-injurious behaviors are very frequent in neurodevelopmental disorders, being a source of anxiety and suffering for persons who have that behavior and their families. Sometimes these behaviors are so intense and frequent that it becomes a selfintegrity risk. A bibliographic review was conducted on the different approaches that have been developed until today; in addition, this article explains the methodology applied in our clinic, with a data collection on the effect of therapy on self-injurious and self-stimulatory behaviors in 20 cases, as a starting point for future research. The sensory integration model that complements pharmacological and behavioral cognitive treatment is highlighted, since it considers sensory needs relevant and trains the capacity for functional self-regulation.
