Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study reports the development of a severe life threatening catatonia in a 19 years old woman. Initially she displayed paranoia and hallucinations, which were complicated under neuroleptic treatment by extended rigor, temperature and autism. ECT led to a certain improvement of all symptoms, but complete recovery was only reached after neuroleptic drug withdrawal. The course of this case shows that the differential-diagnosis between genuine "pernicious" catatonia and the neuroleptica malignant syndrome is very difficult clinically. Therefore, before the application of ECT, an observation period without any neuroleptic drugs is recommended in similar cases with rigor, stupor and raised temperature, to avoid additional risks by narcosis and ECT itself. Diagnostic and therapeutic outlines are given.
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PMID:[Differential diagnosis of acute life threatening catatonia and malignant neuroleptic syndrome--a case report]. 287 91

Autism is increasingly diagnosed, but therapeutic options are limited in many children. ECT is considered as a safe, effective, and life-saving treatment in people of all ages who suffer from affective disorders, acute psychosis, and, in particular, catatonia. There are recent speculations that certain types of autism may be the earliest expression of catatonia and that both disorders have identical risk factors. Therefore, ECT may improve autism and, if started early enough, may prevent further development of autistic symptoms in some children. The use of ECT in autism has never been systematically assessed. There have been two large ECT studies in children in the 1940s. Autism was not assessed in these studies because the autistic syndrome was just then being recognized as a separate entity. Findings from these studies add little to the hypothesis that ECT may be effective in autistic children, but attest to the safety and feasibility of ECT in children. Another limitation is the use of older ECT techniques. What may well be the greatest deterrent to use ECT in autism is widespread anti- ECT sentiment not only among the public but within the medical community as well. All child specialists--psychiatrists, neurologists, psychologists, and developmental pediatricians--should independently review the feasibility, potential, and risk of using ECT in autism. Unless anti-ECT prejudice can be overcome, it is unlikely that any ECT trial in autism is forthcoming. Research areas that may support the hypothesis that ECT is effective in autism should be pursued. First, any link between autism and catatonia should be further explored in clinical and biochemical studies. A GABA theory of autism and catatonia may be pivotal. Second, the role of abnormal GABAA receptor subunit genes in autism and catatonia should be further assessed. Candidate loci for autism and catatonia have been found on the long arm of chromosome 15 where three GABAA receptor subunits genes are located. The GABAA receptor beta 3 subunit gene (GABRB3) was the leading candidate gene for a subgroup of autism in two independent studies. Third, a novel genetic mouse model of autism should be tested. Mutant mice with a targeted deletion of the GABRB3 gene have a complete deficit of the beta 3 subunit of the GABAA receptor. This knockout mouse model seems promising to study developmental effects of altered GABAA receptor function as it relates to certain developmental disorders including autism.
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PMID:Could ECT be effective in autism? 1578 May 21

Autism and Asperger disorder are pervasive developmental disorders that impair social interactions and communications. They are characterized by repetitive and stereotyped behaviors. Catatonia, a syndrome which is most often associated with schizophrenia and affective disorders, is seen in up to 6% of patients with autistic spectrum disorders and in 12% to 17% of adolescents with these disorders. Catatonic symptoms in these cases have been responsive to treatment with electroconvulsive therapy. We report a case of adolescent identical twins with PDD/Asperger disorder who exhibited catatonia and were successfully treated with electroconvulsive therapy.
J ECT 2007 Mar
PMID:Catatonia in autistic twins: role of electroconvulsive therapy. 1743 68

It is well established that we have to consider 3 patterns of psychotic symptoms: positive (hallucinations, delusion...), negative (affective flatness, autism...) symptoms and disorganization (ambivalence, incoherence...). In the past, ECT (electroconvulsivotherapy) was the first effective treatment in psychiatry. Conventionnal neuroleptics have been determinant in the significant evolution of care to psychotic patients. ECT use is now better defined in terms of practise and indications. Assessment of new antipsychotic medications is mainly focused on efficacy on positive symptoms. Atypical antipsychotics brought improvement in treating psychotic syndromes: they are better tolerated and more effective on the whole spectrum of psychotic syndromes including emotional symptoms than conventional neuroleptics. Atypical antipsychotics have raised questions about metabolic and cardiac risks. Compliance remains a cause of failure of many antipsychotic treatments. Treating a psychotic syndrome requires complementary strategies to medications: conditions of assistance and rehabilitation, choice of psychotherapy. Research program are currently orientated towards: - identification of prepsychotic symptoms and endophenotypes which can be treatment targets; - assessment of putative therapeutical means such a brain stimulation.
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PMID:[Treating a psychotic syndrome in 2007]. 1871 8

We report the successful use of electroconvulsive therapy in a 19-year-old man with autism and mild mental retardation who developed severe depression with repeated suicide attempts, multiple symptoms of catatonia, and life-threatening repetitive self-injurious behaviors. After 3 years of failed psychotropic and behavioral interventions in inpatient settings, the patient demonstrated excellent remission of symptoms with bilateral electroconvulsive therapy.
J ECT 2010 Mar
PMID:Electroconvulsive therapy in a man with autism experiencing severe depression, catatonia, and self-injury. 1948 40

The usage of electroconvulsive therapy for the acute resolution of catatonia in autistic children and adults is a novel area that has received increased attention over the past few years. Reported length of the acute ECT course varies among these patients, and there is no current literature on maintenance ECT in autism. The maintenance ECT courses of three patients with autism who developed catatonia are presented. Clinical, research, legal, and administrative implications for ECT treatment in this special population are discussed.
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PMID:Maintenance electroconvulsive therapy in autistic catatonia: a case series review. 2029 32

Catatonia is a syndrome of motor and behavioral disturbance. It is a poorly understood condition, which is underrecognized and may go untreated despite intensive medical workup and numerous unsuccessful medication trials. However, with treatments known to be effective, such as benzodiazepines and/or electroconvulsive therapy, patients may return to their baseline functioning. Autism and catatonia have been previously reported together. We report 2 patients with autism and mental retardation who developed catatonic symptoms at the onset of puberty. Both patients experienced persistent symptoms over several years and presented with a history of motor disturbance, functional decline, and episodic aggression. Both patients were treated with electroconvulsive therapy resulting in a positive response and functional improvement. Catatonia may persist as a chronic condition, lasting over several months or years, if not recognized and treated.
J ECT 2010 Dec
PMID:Onset of catatonia at puberty: electroconvulsive therapy response in two autistic adolescents. 2056 45

The indications for electroconvulsive therapy in children and adolescents are similar to those in adults, including severe affective, psychotic and catatonic pathology that has proven refractory to psychotropic medications and causes significant functional impairment. ECT may be indicated as well in specific pediatric neurological conditions. Multiple published reports demonstrate the safety and efficacy of ECT in pediatric patients with a wide range of psychopathology. ECT has also been successfully used in youth with autism and other neurodevelopmental disabilities who present with catatonic deterioration. However, resistance and stigma persist regarding the use of ECT in children and adolescents in both the professional and lay communities, creating barriers to pediatric ECT access. We argue that the use of ECT in children and adolescents is appropriate for specific clinical indications, and urge removal of impediments to ECT access in this population.
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PMID:When is electroconvulsive therapy appropriate for children and adolescents? 2112 52

Catatonia is a relatively common condition with an estimated prevalence of 0.6% to 17% among youth with psychiatric disorders. Certain patient groups, such as those with autism, may be at a particularly high risk for catatonia. Most of the youth with catatonia are males with a diagnosis of a bipolar disorder. We describe here 2 adolescent females, both with Down syndrome, who presented with catatonia not accompanied by significant affective or psychotic symptoms or with a general medical condition. Both patients had functioned well until the onset of catatonic symptoms. In the current classification system used in the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, catatonia is described in association with schizophrenia, as a specifier of affective disorders or secondary to general medical conditions. The cases described here highlight the problem with this classification system when patients fail to meet any of the 3 diagnostic categories under which catatonia is currently described.
J ECT 2011 Dec
PMID:Catatonia among adolescents with Down syndrome: a review and 2 case reports. 2167 86

Partial deletions of the RBFOX1 gene encoding the neuronal splicing regulator have been reported in a range of neurodevelopmental diseases including idiopathic/genetic generalized epilepsy (IGE/GGE), childhood focal epilepsy, and self-limited childhood benign epilepsy with centrotemporal spikes (BECTS, rolandic epilepsy), and autism. The protein regulates alternative splicing of many neuronal transcripts involved in the homeostatic control of neuronal excitability. Herein, we examined whether structural deletions affecting RBFOX1 exons confer susceptibility to common forms of juvenile and adult focal epilepsy syndromes. We screened 807 unrelated patients with sporadic focal epilepsy, and we identified seven hemizygous exonic RBFOX1 deletions in patients with sporadic focal epilepsy (0.9%) in comparison to one deletion found in 1,502 controls. The phenotypes of the patients carrying RBFOX1 deletions comprise magnetic resonance imaging (MRI)-negative epilepsy of unknown etiology with frontal and temporal origin (n = 5) and two patients with temporal lobe epilepsy with hippocampal sclerosis. The epilepsies were largely pharmacoresistant but not associated with intellectual disability. Our study extends the phenotypic spectrum of RBFOX1 deletions as a risk factor for focal epilepsy and suggests that exonic RBFOX1 deletions are involved in the broad spectrum of focal and generalized epilepsies.
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PMID:Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. 2617 48


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