Subtyping the Autism Spectrum Disorder: Comparison of Children with High Functioning Autism and Asperger Syndrome

Since Hans Asperger's first description (Arch Psych Nervenkrankh 117:76-136, 1944), through Lorna Wing's translation and definition (Psychol Med 11:115-129, 1981), to its introduction in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM, 1994), Asperger Syndrome has always aroused huge interest and debate, until vanishing in the DSM fifth edition (2013). The debate regarded its diagnostic validity and its differentiation from high functioning autism (HFA). The present study aimed to examine whether AS differed from HFA in clinical profiles and to analyze the impact of DSM-5's innovation. Differences in cognitive, language, school functioning and comorbidities, were revealed when 80 AS and 70 HFA patients (3-18 years) were compared. Results suggested that an AS empirical distinction within autism spectrum disorder should be clinically useful

A review of executive function deficits in autism spectrum disorder and attention-deficit/hyperactivity disorder

Executive dysfunction has been shown to be a promising endophenotype in neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). This article reviewed 26 studies that examined executive function comparing ASD and/or ADHD children. In light of findings from this review, the ASD + ADHD group appears to share impairment in both flexibility and planning with the ASD group, while it shares the response inhibition deficit with the ADHD group. Conversely, deficit in attention, working memory, preparatory processes, fluency, and concept formation does not appear to be distinctive in discriminating from ASD, ADHD, or ASD + ADHD group. On the basis of neurocognitive endophenotype, the common co-occurrence of executive function deficits seems to reflect an additive comorbidity, rather than a separate condition with distinct impairments

Frontal lobe metabolic alterations in autism spectrum disorder: a 1H-magnetic resonance spectroscopy study.

Recently, neuroimaging studies were performed using 1H-magnetic resonance spectroscopy (1H-MRS), revealing a quantitative alteration of neurochemicals (such as neurotransmitters and metabolites) in several brain regions of patients with autism spectrum disorder (ASD). The involvement of the frontal lobe in the neurobiology of ASD has long been documented in the literature. Therefore, the aim of this study was to analyze the alterations of N-acetylaspartate/creatine (NAA/Cr) and choline/Cr (Cho/Cr) ratios in the frontal lobe subcortical white matter (WM) in ASD patients, in order to reveal any alteration of metabolites that might be the expression of specific clinical features of the disorder

Sex-Gender Comparisons in Comorbidities of Children and Adolescents With High-Functioning Autism Spectrum Disorder

Over the last few years, new studies focused their attention on the gender-related features in high-functioning autism spectrum disorder (HFA), often leading to controversial results. Another interesting aspect of these subtype of patients is linked to the complexity of clinical presentation, where besides core symptoms, other co-occurrence disorders may complicate the diagnostic evaluation. Therefore, we retrospectively studied 159 HFA patients, male and female, investigating their comorbidities and to find any gender difference. For each patient, were evaluated the presence/absence, type and gender distribution of psychopathological comorbidities, according to DSM-5 diagnostic criteria. The total sample was divided in 100 male and 59 female patients, age and intelligence quotient matched. In our sample, the psychiatric comorbidities observed were Attention Deficit Hyperactivity Disorder, Anxiety Disorders, Depressive Disorders, Bipolar Disorder, Obsessive-Compulsive Disorder, and Anorexia Nervosa. No statistical significant differences were found between male and female HFA patients comorbidities except for Anorexia Nervosa. In both male and female patients, attention deficit and hyperactivity disorder and anxiety disorders were found in high percentage. In conclusion, our investigation showed that a statistical significant difference of comorbidity between male and female HFA patients was found only for AN diagnosis. However, the question about the distinction between female and male HFA patients remains quite interesting and an open area of research for future studies

Early onset first-episode psychosis during treatment with thalidomide for refractory ulcerative colitis: a case report

Inflammatory bowel disease and schizophrenia spectrum disorders are complex and multifactorial conditions characterized by great variability of age at onset, clinical presentation, and longitudinal course. Several lines of evidence suggested different connections among immunological dysregulation, gastrointestinal inflammation, and psychosis, but to date many controversial issues still exist in this field

Early onset first episode psychosis: dimensional structure of symptoms, clinical subtypes and related neurodevelopmental markers

Despite the growing interest in a dimensional approach to the assessment of symptoms and clinically relevant phenomena in schizophrenia spectrum disorders, very few studies, to date, have examined the dimensional structure of symptoms in early onset first episode psychosis. In the present study, we assessed a sample of 60 children and adolescents of both sexes with first episode schizophrenia spectrum psychosis. A principal component analysis (PCA) of the Positive and Negative Syndrome Scale (PANSS) was performed and the factors obtained were used to carry out a cluster analysis. Sex, age of onset before or after 13, markers of early neurodevelopmental impairment and intellectual disabilities were considered as variables to characterized potential clinical subtypes, applying a one-way analysis of variance. Four factors were extracted (â\u80\u9cnegative symptomsâ\u80\u9d, â\u80\u9cdelusionsâ\u80\u9d, â\u80\u9cconceptual disorganizationâ\u80\u9d and â\u80\u9cparanoid/hostilityâ\u80\u9d), each of them identifying a discrete clinical subtype of patients. No difference was found among the groups about sex and age of onset; delayed speech/language development was significantly associated with the â\u80\u9cdelusionsâ\u80\u9d subtype and both â\u80\u9cconceptual disorganizationâ\u80\u9d and â\u80\u9cdelusionsâ\u80\u9d subtypes showed a lower intelligence quotient (IQ). The four factors model we presented highlights â\u80\u9cnegative symptomsâ\u80\u9d as the most consistent factor; among positive symptoms, unusual thought content and conceptual disorganization resulted more distinctive of psychosis, at this age range, than perceptual abnormalities. Evolutionary trajectories of the four clinical subtypes we obtained seem to be influenced by cognitive and neurodevelopmental impairment rather than sex and age of onset

Risperidone and Cardiometabolic Risk in Children and Adolescents: Clinical and Instrumental Issues

PURPOSE/BACKGROUND: Although second-generation antipsychotics are used to treat and manage symptoms for several psychiatric disorders, data about their adverse effects in developmental age are limited. The aim of this prospective observational study was to verify the cardiovascular and metabolic risk in a sample of antipsychotic-naive children/adolescent patients starting risperidone therapy. METHODS: Twenty-two patients, younger than 18 years, were recruited. The assessment included anthropometric data, cardiovascular parameters, blood tests, and ultrasonographic abdominal study. RESULTS: After an average follow-up period of 7.6 months, statistically significant increases in mean values of waist circumference, body mass index (BMI), BMI percentile, BMI z score, total cholesterol, and prolactin were found. Other cardiometabolic parameters showed an upward trend in time. Subjects in pubertal/postpubertal stage and female patients were more susceptible to developing cardiometabolic changes. Moreover, significant correlations between changes in anthropometric and several metabolic parameters were found. A tendency to change in constitution of the liver parenchyma and distribution of the abdominal fat mass with ultrasonographic abdominal study was also evident. CONCLUSIONS: In our sample, several metabolic parameters showed a sensitivity to risperidone treatment. Because most of these parameters are age dependent, metabolic syndrome criteria used for adults were inappropriate in children and adolescents. Periodic clinical and instrumental evaluations and guidelines for monitoring of any metabolic, laboratory, and instrumental complications are necessary in the perspective of even long-time second-generation antipsychotics treatment in children and adolescents

Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology

A diagnosis of autism spectrum disorder is reported in up to 19% of dystrophinopathies. However, over the last ten years, only a few papers have been published on this topic. Therefore, further studies are required to analyze this association in depth and ultimately to understand the role of the brain dystrophin isoform in the pathogenesis of ASD and other neurodevelopmental disorders. In this paper, we report a clinical case of a patient affected by ASD and Duchenne muscular dystrophy, who carries a large deletion of the dystrophin gene. Then we present a brief overview of the literature about similar cases and about the potential role of the dystrophin protein in the neurobiology of autism spectrum disorder