1. {{Neurodevelopmental disorders: Gene expression profiling in blood could aid diagnosis of autism spectrum disorders}}. {Nat Rev Neurol};2013 (Jan 22)
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2. Ayuda-Pascual R, Llorente-Comi M, Martos-Perez J, Rodriguez-Bausa L, Olmo-Remesal L. {{[Measurements of stress and family impact in the parents of children with autism spectrum disorders before and after taking part in a training programme]}}. {Rev Neurol};2012 (Feb 29);54 Suppl 1:S73-80.
INTRODUCTION: The presence of a child with autism spectrum disorder (ASD) in the family causes an overall impact on parents and siblings manifested in a significant increase in stress. AIM: To analyze whether the implementation of a specific school of families for parents of people with ASD has a positive effect in the family impact, specifically in the stress perception and skills of parents who have children with ASD. SUBJECTS AND METHODS: A total of 27 parents having children with ASD participated in a school of families from which 13 of them filled a questionnaire of family impact before and after attending the training. Frequency and comparison analysis were carried out through the Wilcoxon interval test. RESULTS: After the following of the school of families, improvement tendencies were shown regarding the decrease of parent’s stress, as regards the perception about their answers on their son’s behaviors, and significantly, in the assessment of the quality of the time shared among parents and typically developing siblings. CONCLUSIONS: It is necessary to implement research programs with bigger samples aimed at being more precise on the influence of the specific training in stress for parents. The idea of developing training programs for families with ASD children is recommended for the different services that support this population as a way of helping in the decrease of stress.
3. Ben-Sasson A, Soto TW, Martinez-Pedraza F, Carter AS. {{Early sensory over-responsivity in toddlers with autism spectrum disorders as a predictor of family impairment and parenting stress}}. {J Child Psychol Psychiatry};2013 (Jan 21)
Background: Sensory over-responsivity (SOR) affects many individuals with autism spectrum disorders (ASD), often leading to stressful encounters during daily routines. Methods: This study describes the associations between early SOR symptoms and the longitudinal course of restrictions in family life activities and parenting stress across three time-points in families raising a child with ASD (n = 174). Covariates were child diagnostic severity, emotional problems, and maternal affective symptoms. At time 1 mean chronological age was 28.5 months. Children were administered the Autism Diagnostic Observation Schedule (ADOS) and Mullen Scales of Early Learning (MSEL). Parents completed the Infant Toddler Sensory Profile (ITSP), Infant-Toddler Social Emotional Assessment (ITSEA), Beck Anxiety Index (BAI), and the Center for Epidemiologic Studies Depression Inventory (CES-D) at time 1; and the Parenting Stress Index (PSI) and Family Life Impairment Scale (FLIS) at the three annual time-points. Results: Latent Growth Curve Models indicated that higher SOR scores on the ITSP at time 1 were associated with higher initial levels of family life impairment and parenting stress and with a smaller magnitude of change over time. These associations were independent of severity of ADOS social-communication symptoms, MSEL composite score, ITSEA externalizing and anxiety symptoms, and maternal affective symptoms as measured by the BAI and CES-D. On average FLIS and PSI did not change over time, however, there was significant individual variability. Concurrently, SOR at time 1 explained 39-45% of the variance in family stress and impairment variables. Conclusions: An evaluation of SOR should be integrated into the assessment of toddlers with ASD considering their role in family life impairment and stress.
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4. Brown AS, Sourander A, Hinkka-Yli-Salomaki S, McKeague IW, Sundvall J, Surcel HM. {{Elevated maternal C-reactive protein and autism in a national birth cohort}}. {Mol Psychiatry};2013 (Jan 22)
Autism is a complex neuropsychiatric syndrome with a largely unknown etiology. Inflammation during pregnancy may represent a common pathway by which infections and other insults increase risk for the disorder. Hence, we investigated the association between early gestational C-reactive protein (CRP), an established inflammatory biomarker, prospectively assayed in maternal sera, and childhood autism in a large national birth cohort with an extensive serum biobank. Other strengths of the cohort included nearly complete ascertainment of pregnancies in Finland (N=1.2 million) over the study period and national psychiatric registries consisting of virtually all treated autism cases in the population. Increasing maternal CRP levels, classified as a continuous variable, were significantly associated with autism in offspring. For maternal CRP levels in the highest quintile, compared with the lowest quintile, there was a significant, 43% elevated risk. This finding suggests that maternal inflammation may have a significant role in autism, with possible implications for identifying preventive strategies and pathogenic mechanisms in autism and other neurodevelopmental disorders.Molecular Psychiatry advance online publication, 22 January 2013; doi:10.1038/mp.2012.197.
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5. Garcia-Penas JJ, Dominguez-Carral J, Pereira-Bezanilla E. {{[Abnormalities of synaptogenesis in autism. Pathogenic and therapeutic implications]}}. {Rev Neurol};2012 (Feb 29);54 Suppl 1:S41-50.
INTRODUCTION: The social, language, and behavioural problems that occur with autism suggest that this syndrome affects a functionally diverse and widely distributed set of neural systems. AIMS: To review the molecular pathways involved in synaptic growth, development, and stability of human synapses. We also examine the genes implicated in synaptogenesis which have been associated with autism. In particular, we highlight the role of these genes in synaptic cell adhesion, organization of presynaptic and postsynaptic specializations, growth signaling pathways, and endosomal function. DEVELOPMENT: Proper brain function requires stringent balance of excitatory and inhibitory synapse formation during neural circuit assembly. Mutation of genes that normally sculpt and maintain this balance results in severe dysfunction, causing neurodevelopmental disorders including autism, epilepsy, Angelman syndrome, fragile X syndrome, and Rett syndrome. Such mutations may result in defective architectural structuring of synaptic connections, molecular assembly of synapses and/or functional synaptogenesis. CONCLUSIONS: Increased knowledge of abnormal mechanisms of human synaptogenesis may lead to define different etio-pathogenic models of autism and to understand how far abnormal cell/synaptic growth and synaptic function could be reversed.
6. Lian WB, Ho S. {{Profile of children diagnosed with autistic spectrum disorder managed at a tertiary child development unit}}. {Singapore Med J};2013 (Jan);54(1):58.
7. Palau-Baduell M, Salvado-Salvado B, Clofent-Torrento M, Valls-Santasusana A. {{[Autism and neural connectivity]}}. {Rev Neurol};2012 (Feb 29);54 Suppl 1:S31-39.
INTRODUCTION: Recent studies have investigated functional and structural brain connectivity in patients with autism spectrum disorders (ASD). Neuroimaging and electroencephalographic studies have found evidences suggesting that connectivity patterns are altered in ASD. AIMS: To review recent works from structural and functional neuroimaging and neurophysiological studies, and to provide a summary of advances in research implicating disordered connectivity in ASD. DEVELOPMENT: Functional findings reveal that patients with ASD have deficit in long-distance connections (under-connectivity), with a most prominent deficit in fronto-posterior connections. With regard to structural connectivity there is evidence of disruption to inter-hemispheric white matter structures. Less functional studies reveal that patients with ASD also have an excess of local connections (over-connectivity), but findings from structural studies are considerably more inconsistent. CONCLUSIONS: The converging findings of functional connectivity abnormalities and white matter abnormalities in autism suggest that alterations in neural connectivity and the communication between different brain regions may be involved in behavioral and cognitive deficits associated with autism.
8. Paula-Perez I. {{[Differential diagnosis between the autistic spectrum and the schizophrenic spectrum]}}. {Rev Neurol};2012 (Feb 29);54 Suppl 1:S51-62.
INTRODUCTION: The nosological distinction between the autistic spectrum and the schizophrenic spectrum is clearly defined today, despite scientific evidence of the genetic relationship between the two conditions. The overlap between the negative symptoms of schizophrenia and certain autistic manifestations, and the fact that professionals who are not familiar with autistic spectrum disorders have misguidedly attributed positive symptoms of schizophrenia in autism together highlight the importance of deciphering the keys that make it possible to reach a differential diagnosis or to evaluate the comorbidity and co-occurrence of both spectra when this is the case. DEVELOPMENT: The article analyses and unravels the manifestations of autism that could be mistaken for the psychotic dimension and the disorganisation dimension corresponding to the positive symptoms of the schizophrenic spectrum. It also seeks to clarify the psychological explanations justifying the manifestation of certain negative symptoms frequently associated with autism. CONCLUSIONS: The keys to determining whether the clinical manifestations belong to the autistic spectrum, the schizophrenic spectrum or result from comorbidity lie in the evaluation of the developmental history of the person, the prodrome and onset of the condition, its course and the presence or absence of positive symptoms of schizophrenia. Determining them will play a crucial role in helping the professional to make decisions concerning both the diagnosis and treatment.
9. Reimer B, Fried R, Mehler B, Joshi G, Bolfek A, Godfrey KM, Zhao N, Goldin R, Biederman J. {{Brief Report: Examining Driving Behavior in Young Adults with High Functioning Autism Spectrum Disorders: A Pilot Study Using a Driving Simulation Paradigm}}. {J Autism Dev Disord};2013 (Jan 22)
Although it is speculated that impairments associated with autism spectrum disorder (ASD) will adversely affect driving performance, little is known about the actual extent and nature of the presumed deficits. Ten males (18-24 years of age) with a diagnosis of high functioning autism and 10 age matched community controls were recruited for a driving simulation experiment. Driving behavior, skin conductance, heart rate, and eye tracking measurements were collected. The high functioning ASD participants displayed a nominally higher and unvaried heart rate compared to controls. With added cognitive demand, they also showed a gaze pattern suggestive of a diversion of visual attention away from high stimulus areas of the roadway. This pattern deviates from what is presumed to be optimal safe driving behavior and appears worthy of further study.
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10. Salvado-Salvado B, Palau-Baduell M, Clofent-Torrento M, Montero-Camacho M, Hernandez-Latorre MA. {{[Comprehensive models of treatment in individuals with autism spectrum disorders]}}. {Rev Neurol};2012 (Feb 29);54 Suppl 1:S63-71.
INTRODUCTION. The steady increase in the number of children with autism spectrum disorders, has led to a better social awareness but also to a higher demand for specific interventions. This has questioned what the most appropriate and effective procedures for detection, diagnosis and treatment are. AIM. To review different approaches and classifications of interventions with individuals with autism spectrum disorders based on scientific evidence. DEVELOPMENT. According to the latest revisions, there are three types of classifications to categorize evidence-based interventions: practice-based intervention, comprehensive models of treatment and drug treatments. There are difficulties in comparing results of different methods of intervention, however, some common elements to prove their effectiveness have been identified. CONCLUSIONS. All intervention models should include functional communication skills, meaningful learning, carried out in various contexts, addressing challenging behaviors through positive behavioral support, promoting activities with peers and emphasize the role of parents in the planning and implementation of the objectives.
11. Schwartzman JS. {{The use of eye-gaze technology in girls with rett syndrome}}. {Pediatr Neurol};2013 (Feb);48(2):159.
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12. Wijburg FA, Wegrzyn G, Burton BK, Tylki-Szymanska A. {{Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit hyperactivity or autism spectrum disorder}}. {Acta Paediatr};2013 (Jan 21)
Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit hyperactivity disorder, and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments. Conclusion: Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III. (c)2013 The Author(s)/Acta Paediatrica (c)2013 Foundation Acta Paediatrica.
