1. Clark GM, Lum JAG. {{Procedural learning in Parkinson’s disease, specific language impairment, dyslexia, schizophrenia, developmental coordination disorder, and autism spectrum disorders: A second-order meta-analysis}}. {Brain Cogn};2017 (Jul 12);117:41-48.
The serial reaction time task (SRTT) has been used to study procedural learning in clinical populations. In this report, second-order meta-analysis was used to investigate whether disorder type moderates performance on the SRTT. Using this approach to quantitatively summarise past research, it was tested whether autism spectrum disorder, developmental coordination disorder, dyslexia, Parkinson’s disease, schizophrenia, and specific language impairment differentially affect procedural learning on the SRTT. The main analysis revealed disorder type moderated SRTT performance (p=0.010). This report demonstrates comparable levels of procedural learning impairment in developmental coordination disorder, dyslexia, Parkinson’s disease, schizophrenia, and specific language impairment. However, in autism, procedural learning is spared.
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2. Garrido D, Garcia-Fernandez M, Garcia-Retamero R, Carballo G. {{[Communicative and social-adaptive profile in children with autism spectrum disorder: a new approach based on the DSM-5 criteria]}}. {Rev Neurol};2017 (Jul 16);65(2):49-56.
INTRODUCTION: Following the adoption of the new international diagnosis classification from the Diagnostic and Statistical Manual (DSM-5), autism spectrum disorder (ASD) has been established as a dimensional category that includes other disorders that were previously considered as separate entities. Previous research has shown that some people with this disorder exhibit different communicative and linguistic profiles. Therefore, contradictory results could be found among people who receive the same diagnosis. AIM: To distinguish structural language aspects (expression and comprehension), interactive aspects (pragmatics), and social adaptation between children with an ASD-level 1 of support and children with typical development. SUBJECTS AND METHODS: Seventeen children with Asperger syndrome (according to the DSM-IV-TR), and 20 children with typical development between 7 and 12 years old. We have equated diagnosis of Asperger syndrome with ASD-level 1 of support. We have evaluated intelligence quotient, communication, and social adaptation with direct and indirect standardized parental scales. RESULTS: We have found significant differences in comprehension (p = 0.025), interaction (p = 0.001), and social adaptation (p = 0.001) between the two groups. CONCLUSIONS: Subjects with ASD-level 1 of support demonstrate an average intelligence quotient, and good expressive structure (syntax and semantic level), which may be different from other children who receive the same diagnosis, due to the wide heterogeneity of the disorder. Nevertheless, our subjects have problems related to comprehension of grammar structure, pragmatics, and social adaptation. These difficulties could be related to emotional and social problems.
3. Kraper CK, Kenworthy L, Popal H, Martin A, Wallace GL. {{The Gap Between Adaptive Behavior and Intelligence in Autism Persists into Young Adulthood and is Linked to Psychiatric Co-morbidities}}. {J Autism Dev Disord};2017 (Jul 14)
For individuals with autism spectrum disorder (ASD), long-term outcomes have been troubling, and intact IQ has not been shown to be protective. Nevertheless, relatively little research into adaptive functioning among adults with ASD has been completed to date. Therefore, both adaptive functioning and comorbid psychopathology were assessed among 52 adults with ASD without intellectual disability (ID). Adaptive functioning was found to substantially lag behind IQ, and socialization was a particular weakness. Comorbid psychopathology was significantly correlated with the size of IQ-adaptive functioning discrepancy. These findings emphasize key intervention targets of both adaptive skill and psychopathology for transition-age youth and young adults with ASD, as well as the need for ongoing monitoring of anxiety and depression symptoms during this developmental window.
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4. Liang JS, Lin LJ, Yang MT, Wang JS, Lu JF. {{The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features}}. {Brain Dev};2017 (Jul 11)
Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c.1270G>A; p.V424M) in the SCN2A gene, which encodes the alphaII-subunit of the voltage-gated Na+ channel (Nav1.2). The identified SCN2A mutation responsible for the development of the disease is confirmed to be de novo for the proband. Our findings broaden the clinical spectrum of SCN2A mutations, which resembles clinical phenotypes of SCN1A mutations by manifesting as fever sensitive seizures, and highlights that SCN2A mutations are an important cause of early-onset epileptic encephalopathies with movement disorders. In addition, the use of levetiracetam to treat SCN2A epileptic encephalopathy, when Na+ channel-blocking anticonvulsants are ineffective, is also recommended.
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5. Manouilenko I, Humble MB, Georgieva J, Bejerot S. {{Brainstem Auditory Evoked Potentials for diagnosing Autism Spectrum Disorder, ADHD and Schizophrenia Spectrum Disorders in adults. A blinded study}}. {Psychiatry Res};2017 (Jul 06);257:21-26.
The aim of the present study was to examine the clinical utility of complex auditory brainstem response (c-ABR) and investigate if c-ABR is helpful in the diagnostic procedure. Thirty-one adult psychiatric patients, thoroughly diagnosed with autism spectrum disorder (ASD) (n=16), ADHD (n=8), or schizophrenia spectrum disorder (SSD) (n=7) and 15 healthy controls (HC), were blindly assessed with SensoDetect BERA. This c-ABR correctly identified psychiatric diagnoses in 4 patients (13%) and provided partially correct diagnoses in 11 more patients. Of the 15 HC, 6 were misclassified as psychiatric patients. The Cohen s kappa coefficient (kappa) was substantial for HC (kappa=0.67), fair for SSD (kappa=0.37), slight for ADHD (kappa=0.09) and without agreement in ASD (kappa=-0.03). In conclusion, we found the c-ABR method unhelpful and unreliable as a tool in clinical diagnostics.
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6. Merritt J, Hart JC, LeGrow TL. {{Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome}}. {BMJ Case Rep};2017 (Jul 14);2017
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic facial features and severe intellectual disability, as well as cardiac, dental and hearing abnormalities. There has been little psychiatric or psychological description of children with SBBYSS, although previous reports noted repetitive self-injurious behaviours, sensitivity to light and noise and severe deficits in communication. In this report, a 4-year-old male with SBBYSS is described with a focus on psychiatric and psychological assessment, including formal testing for autism spectrum disorder (ASD). Results of multiple behavioural assessment scales are reported. Testing revealed characteristic ASD features, and the patient met criteria for ASD diagnosis in the context of SBBYSS. His behaviours improved with Applied Behavioural Analysis therapy and communication skills training. This is the first documented case of ASD reported alongside SBBYSS. These results suggest ASD may be a clinical feature of SBBYSS.
