1. Ermel EL, Carneiro LC, Souza CF, Crippa AC, Sanseverino MT, Raskin S. {{Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients}}. {Arq Neuropsiquiatr};2013 (Jun);71(6)
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2. Garcia-Lopez C, Narbona J. {{[Clinical usefulness of IDEA and CARS: concordance with DSM-IV-TR in children and adolescents with suspicion of PDD.]}}. {An Pediatr (Barc)};2013 (Jul 1)
INTRODUCTION: Observational scales are useful to estimate the severity of symptoms in PDD as well as to monitor their evolution. OBJECTIVES: a) To analyze the concordance between diagnoses based on the Autism Spectrum Inventory (Inventario del Espectro Autista, IDEA)) and the Childhood Autism Rating Scale (CARS), compared to DSM-IV-TR criteria, in subjects with a suspicion of pervasive developmental disorders (PDD), and b) to study the discrimination power of both scales to differentiate between a clinical diagnosis situated in the autism spectrum. PATIENTS AND METHODS: Fifty-six children and adolescents, between 2 and 20 years-old, who attended our Neuropediatric Unit due to suspicion of PDD. Independently, two clinicians evaluated the presence of PDD symptoms; one of them according to DSM-IV-TR criteria and the other one based on the application of IDEA and CARS. RESULTS: The concordance of IDEA and CARS when compared to DSM-IV-TR classification was 73 and 82%, respectively, with a sensitivity of 1 and 0,83 and a specificity of 0,61 and 0,82, respectively. Both scales correctly discriminated between autistic disorder and other clinical diagnoses. CONCLUSIONS: Both IDEA and CARS are useful instruments to detect and monitor autism symptoms in the context of routine clinical practice.
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3. Kelemen O, Kovacs T, Keri S. {{Contrast, motion, perceptual integration, and neurocognition in schizophrenia: The role of fragile-X related mechanisms}}. {Prog Neuropsychopharmacol Biol Psychiatry};2013 (Jul 6)
Recent studies demonstrated a reduced expression of Fragile X Mental Retardation Protein (FMRP), an RNA binding protein and translation regulator, in the brain and peripheral lymphocytes of patients with schizophrenia. Low FMRP levels may be related to impaired neurodevelopmental processes and synaptic plasticity. Here, we studied the relationship between peripheral FMRP level, visual perception (contrast sensitivity, perceptual integration, motion/form perception), and neuropsychological functions in schizophrenia as measured with the Repeatable Battery for the Assessment of Neuropsychological Status (RBANS). Results revealed that patients with schizophrenia displayed lower FMRP levels in peripheral lymphocytes as compared to control individuals. We found significant correlations between FMRP levels and contrast sensitivity at low spatial and high temporal frequencies, perceptual integration, and motion perception. The relationship between FMRP level and neuropsychological functions was less pronounced than that seen in the case of visual perception, with the greatest effect for RBANS attention. FMRP level was not related to contrast sensitivity at high spatial and low temporal frequencies and form perception. This pattern of data is reminiscent to that observed in patients with Fragile X Syndrome (FXS). These results suggest that FMRP may be implicated in the pathogenesis of schizophrenia, possibly via the regulation of neurodevelopment, plasticity, GABA-ergic, and glutamatergic neurotransmission.
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4. Lotan M, Reves-Siesel R, Eliav-Shalev RS, Merrick J. {{Osteoporosis in Rett syndrome: a case study presenting a novel management intervention for severe osteoporosis}}. {Osteoporos Int};2013 (Jul 5)
The present article describes a successful novel therapeutic intervention with Aredia with one child with Rett syndrome, after suffering from six pathological fractures within less than 3 years due to severe osteoporosis. Since the initiation of the treatment (3 years ago), the child has not suffered any fractures. Patients with chronic diseases and those with disabilities or on anticonvulsant medications are at risk for low bone density and possibly for the resultant pathologic fractures that define osteoporosis in children. Individuals with Rett syndrome (RS) have been shown to have low bone mineral density (or osteopenia) at a young age. If osteoporosis occurs in a girl with RS, it can inflict pain and seriously impair the child’s mobility and quality of life. The present article describes a case study of a child with RS (showing an average of 1.75 fractures annually for the 4 years preceding the treatment) before and after a treatment with Aredia. Patient received 30 mg/day for 3 days on a once every 3-month cycle. There was a 45 % improvement in bone mass density (BMD) values from pre-post-intervention. The child had no fractures in the 3 years posttreatment. This finding is significant (p < 0.03). The BMD Z-scores of the child showed severe osteoporosis (Z-score of -3.8) at pre-intervention and are elevated to osteopenia levels (Z-score of -1.3) at post-intervention measurements. All measurements suggest that the treatment successfully reversed the osteoporotic process and prevented further fractures. This change caused great relief to the child and her family and an improvement in their quality of life. The findings support the ability (in one case) to reverse the progression of osteoporosis in individuals with Rett syndrome showing severe osteoporosis with multiple fractures.
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5. Mazur-Kolecka B, Cohen IL, Gonzalez M, Jenkins EC, Kaczmarski W, Brown WT, Flory M, Frackowia J. {{Autoantibodies against neuronal progenitors in sera from children with autism}}. {Brain Dev};2013 (Jul 6)
The pathological role of autoantibodies in development of CNS disorders is a new idea with growing interest among neuroscientists. The involvement of autoimmune response in the pathogenesis of autism spectrum disorders (ASD) has been suggested by the presence of multiple brain-specific autoantibodies in children with ASD and in their mothers. The possibility of the effect of autoimmunity on neurogenesis and postnatal brain plasticity has not been determined. The presence of autoantibodies against human neuronal progenitor cells (NPCs) stimulated for neuronal differentiation in culture was tested in sera from children with autism (n=20) and age-matched controls (n=18) by immunoblotting and immunocytochemistry. Immunoreactivity against multiple NPCs proteins of molecular sizes of approximately 55kDa, 105kDa, 150kDa, and 210kDa in sera from individuals with autism had a higher incidence and was stronger than in control sera which immunoreacted mainly with a 150kDa protein. The sera from children with autism immunoreacted the strongest with NPCs expressing neuronal markers Tuj1 and doublecortin, but not astrocyte marker GFAP. The epitopes recognized by antibodies from sera were not human-specific because they detected also NPCs in situ in murine hippocampus. The autoimmune reactions against NPCs suggest an impaired tolerance to neural antigens in autism. These autoantibodies may be symptomatic for autism and furthermore, their presence suggests that autoimmunity may affect postnatal neuronal plasticity particularly after impairment of blood-brain barrier. Future studies will determine the diagnostic value of the presence of autoantibodies in autism and the therapeutic value of prevention of autoimmunity in autism.
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6. Wu MS, McGuire JF, Arnold EB, Lewin AB, Murphy TK, Storch EA. {{Psychometric Properties of the Children’s Yale-Brown Obsessive Compulsive Scale in Youth with Autism Spectrum Disorders and Obsessive-Compulsive Symptoms}}. {Child Psychiatry Hum Dev};2013 (Jul 5)
The psychometric properties of the Children’s Yale-Brown Obsessive Compulsive Scale (CY-BOCS) were investigated in 46 treatment-seeking youth, 7-15 years of age, who were diagnosed with an autism spectrum disorder (ASD) and exhibited obsessive-compulsive symptoms. The CY-BOCS Total score exhibited good internal consistency, with differing internal consistencies observed on the Obsession Severity scale (alpha = 0.86) and Compulsion Severity scale (alpha = 0.59). Good to excellent inter-rater reliability was observed for the CY-BOCS Total score and both Severity scales. Convergent and divergent validity of the CY-BOCS Total score and both Severity scales were satisfactory. Insight into obsessive-compulsive symptoms was moderately associated with the CY-BOCS Total score. The CY-BOCS demonstrated treatment sensitivity, demonstrating significant changes in obsessive-compulsive symptoms within a subsample of youth receiving cognitive-behavioral treatment. Overall, the CY-BOCS demonstrated adequate psychometric properties and utility in assessing obsessive-compulsive symptoms in youth with ASD and clinically significant obsessive-compulsive symptoms.
