1,721,025 research outputs found
Novel treatments in autism spectrum disorders: From synaptic dysfunction to experimental therapeutics
No full textRecent discoveries and advances in genetics and neuroscience have provided deeper understanding of the complex neurobiology of ASD. The development of novel treatments is strictly dependent on these findings in order to design new strategies in the pharmacotherapy of ASD. At this time, therapeutics are limited to treating associated core, symptoms. Studies of single gene disorders, such as Phelan-McDermid syndrome, Fragile X and Tuberous Sclerosis, might be of significant help since the neurobiology of these disorders is clearer and clinical trials are already underway for these conditions. The pathogenesis paradigm shift of ASD towards synaptic abnormalities has led to current research of the pathways to disease, which involves multiple dynamic systems. Interest in oxytocin is growing as it has been recognized to be implicated in social development and affiliative behaviours. In the future, progress is expected in possible new options for therapeutics in ASD. Children and adolescents with ASD and their families can provide vital information about their experiences with new treatments, which should be a priority for future research. (C) 2012 Elsevier B.V. All rights reserved
Self injurious behavior in autism: clinical aspects and treatment with risperidone
No full textSelf injurious behavior (SIB) is frequent in autistic spectrum disorders. The aim of this study was to investigate the phenomenology of SIB in a group of children with autistic disorder, and to test whether treatment with risperidone might reduce it. A group of eleven children diagnosed with autistic disorder according to the DSM-IV criteria (mean age 8.7 +/- 2.2ys) and with severe SIB were recruited for an open study of six months of treatment with risperidone. The Yale-Paris Self-Injurious Behavior Scale was used to delineate the clinical characteristics and as an outcome measure. Head-hitting and hand biting were the most frequent forms of self aggression observed. Nine children presented a mild improvement in SIB and 2 did not show any variation. A decrease in Yale-Paris Self Injurious Behavior Scale score (from M 15.1 +/- 1.4 to 13.3 +/- 1.4) was noted mainly due to the reduction of frequency. Side effects of risperidone were not severe
Mood Stabilizers in Children and Adolescents With Autism Spectrum Disorders
No full textAutism spectrum disorders (ASDs) are a group of neurodevelopmental disorders including autistic disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified as to Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. All these categories are grouped together in Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, classification under the category of Autism Spectrum Disorders. Behavioral disorders including irritability, attention-deficit/hyperactivity disorder (ADHD) symptoms, and aggression are additional symptoms found in up to 20% of children and adolescents with ASD and require careful evaluation for appropriate treatment. Attention-deficit/hyperactivity disorder is defined by impaired attention, hyperactivity, and impulsivity, whereas ASD is defined by social dysfunction, communicative impairment, and restricted/repetitive behaviors. They should be distinctly evaluated in children and adolescents with ASD and intellectual disability in contrast to individuals without intellectual disability, because significant differences between these conditions exist. Mood disorders are also common in ASD and should be systematically investigated in this population of children and adolescents. Approximately 50% of children and adolescents with ASD receive medication for comorbid behavioral/ADHD and mood symptoms, mostly stimulants, antiepileptics and antipsychotics. Guidelines for the evaluation and treatment including medications for ADHD-like symptoms have recently been provided and should be carefully considered. Antiepileptic drugs are commonly used in ASDs with epilepsy, because seizures are associated with ASD in 10% to 30% of young patients, and as mood stabilizers. Lithium is another option for children and adolescents with ASD who present with symptoms of a mood disorder, such as elevated moods/euphoria, mania, and paranoia, whether accompanied or not by irritability. Experimental treatments are under investigation and currently include arbaclofen, a -aminobutyric acid agent, and N-acetylcisteine, a glutamate agent
Autism with epilepsy: A neurodevelopmental association
Full text linkIntroduction
The association between Autism Spectrum Disorders (ASD) and epilepsy has been extensively documented and the estimated prevalence varies, depending upon the selected population and the clinical characteristics. Children with
early-onset epilepsy and early brain damage have a higher risk of presenting ASD compared to those without epilepsy. Genetic abnormalities are likely implicated in the association of ASD and epilepsy, although these abnormalities are currently detectable in only a small percentage of patients. Copy number variants (CNVs) with a low rate of occurrence (so-called rare variants) have been found to be implicated in these conditions as well. Furthermore,
some genetic and medical conditions are associated with ASD and epilepsy.
Currently the co-occurrence of autism and epilepsy is conceptualized as the result of common abnormal
neurodevelopmental pathways. Synaptic dysfunction is likely to be involved in both disorders, as observed in preclinical models. There is no specificity of seizure type to be expected in children and adolescents with ASD compared to other neurodevelopmental disorders or epileptic syndromes. Treatment options include developmentally-based early interventions for ASD and medications for epilepsy. The aim of this article is to provide a brief overview of current research on the association of autism with epilepsy, from molecular basis to clinical characteristics.
Conclusion
Common neurodevelopmental pathways are probably at play in the association of autism with epilepsy.
Synaptic abnormalities and genetic variations have been shown to be implicated in this complex condition
Clinical experience with Topiramate to counteract neuroleptic induced weight gain in 10 individuals with autistic spectrum disorders
No full textChildren and adolescents with autistic spectrum disorders are treated with neuroleptics to limit behavioral disturbances such as aggression, hyperactivity and self-injury. They may experience substantial weight gain when undergoing treatment with atypical antipsychotics actually employed. Topiramate (TPM) is an antiepileptic medication that is being progressively demonstrating a wider spectrum of action, mainly as an agent for weight control and as a mood stabilizer. It was administered to a group of children and adolescents with autistic spectrum disorders with the aim of reversing weight gain. This is an open study over an observation period of 18 months of 10 children and adolescents, eight males and two females, mean age 13 years, SD +/- 3.6, range 8-19 years with a diagnosis of autistic disorder or pervasive developmental disorder not otherwise specified according to DSM-IV. Starting dosage of TPM was 0.5 mg/kg followed by titration of 0.5 mg/kg on a weekly basis, up to 1-3 mg/kg/day as the maintenance dosage. Eight subjects were undergoing long-term treatment with risperidone, one with pimozide and one was temporarily not on antipsychotics. Six patients took TPM on a regular basis and four dropped out. Variable degrees of weight reduction were observed in four patients, two subjects showed weight increase. Behavioral adverse effects were observed in three patients causing rapid withdrawal of the medication. TPM should be used with caution in autistic spectrum disorders because this population has a high risk of behavioral disruption. (c) 2004 Elsevier B.V. All rights reserved
Epilepsy in autism spectrum disorders
No full textEpilepsy is quite common in autism spectrum disorders, and it is increasingly recognized as an additional clinical problem that must be dealt with. The rate of comorbidity varies, depending upon the age and type of disorder, and currently the conservative estimate of comorbidity cases is 20-25% of the whole spectrum. Major risk factors for seizure occurrence are mental retardation and additional neurological disorders, as well as some specific associated medical conditions. Autism with regression has been reported in one-third of children with previously normal or nearly normal development. In an unknown proportion of these subjects, epileptic disorders are concomitant, leading to so-called autistic epileptiform regression. Furthermore, epileptiform abnormalities without seizures are frequent in this population and their role in the development of the nuclear disturbances of autism is controversial. The therapeutic approaches to epilepsy in autism are conventional treatments, yet when seizures are not evident, there is still controversy. Anticonvulsant medications could also potentially interfere with mood and behavioral disturbances frequently observed in ASD. The current understanding of the association between epilepsy and autism is still limited, but from a clinical point of view this association should not be overlooked, and it should be routinely investigated
Autistic epileptiform regression
No full textAutistic regression is a well known condition that occurs in one third of children with pervasive developmental disorders, who, after normal development in the first year of life, undergo a global regression during the second year that encompasses language, social skills and play. In a portion of these subjects, epileptiform abnormalities are present with or without seizures, resembling, in some respects, other epileptiform regressions of language and behaviour such as Landau-Kleffner syndrome. In these cases, for a more accurate definition of the clinical entity, the term autistic epileptifom regression has been suggested. As in other epileptic syndromes with regression, the relationships between EEG abnormalities, language and behaviour, in autism, are still unclear. We describe two cases of autistic epileptiform regression selected from a larger group of children with autistic spectrum disorders, with the aim of discussing the clinical features of the condition, the therapeutic approach and the outcome
Autism with epilepsy: a clinical and genetic study. Research Protocol
No full textAbstract: Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting
~1% of people worldwide. Core ASD features present with impaired social communication abilities,
repetitive and stereotyped behaviors, and atypical sensory responses and are often associated with a
series of comorbidities. Among these, epilepsy is frequently observed. The co-occurrence of ASD
and epilepsy is currently thought to result from common abnormal neurodevelopmental pathways,
including an imbalanced excitation/inhibition ratio. However, the pathological mechanisms involved
in ASD-epilepsy co-morbidity are still largely unknown. Here, we propose a research protocol aiming
to investigate electrophysiological and genetic features in subjects with ASD and epilepsy. This study
will include a detailed electroencephalographic (EEG) and blood transcriptomic characterization of
subjects with ASD with and without epilepsy. The combined approach of EEG and transcriptomic
studies in the same subjects will contribute to a novel stratification paradigm of the heterogeneous
ASD population based on quantitative gene expression and neurophysiological biomarkers. In
addition, our protocol has the potential to indicate new therapeutic options, thus amending the
current condition of absence of data and guidelines for the treatment of ASD with epileps
Excitation/Inhibition Modulators in Autism Spectrum Disorder: Current Clinical Research
Full text linkAutism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by social and communication abnormalities. Heterogeneity in the expression and severity of the core and associated symptoms poses difficulties in classification and the overall clinical approach. Synaptic abnormalities have been observed in preclinical ASD models. They are thought to play a major role in clinical functional abnormalities and might be modified by targeted interventions. An imbalance in excitatory to inhibitory neurotransmission (E/I imbalance), through altered glutamatergic and GABAergic neurotransmission, respectively, is thought to be implicated in the pathogenesis of ASD. Glutamatergic and GABAergic agents have been tested in clinical trials with encouraging results as to efficacy and tolerability. Further studies are needed to confirm the role of E/I modulators in the treatment of ASD and on the safety and efficacy of the current agents. Copyright © 2021 Canitano and Palumbi
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