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

Fragile X syndrome is the second most common chromosomal cause of mental retardation (MR). The calculated incidence is 1/1000, making accurate and early diagnosis important for specific preventive, pharmacologic, and cognitive treatment. The timely diagnosis in males is facilitated by the characteristic phenotype and an association with autism. In contrast, in females heterozygous for fragile X, the characteristic phenotype and infantile autism are rarely reported. We present two females with cytogenetic expression of the fragile X chromosome for whom the studies were performed because of the presence of autism or prominent autistic features and a behavioral and physical phenotype consistent with fragile X syndrome. The first female, age three years, has autism, hyperactivity, echolalia, language delay, hand stereotypies, and mild MR. The characteristic phenotype was not present nor was there a family history of X-linked MR. Fragile X expression was 6% in the proband, 3% in the mother and 1% (normal) in the father. The second child, seven years old, has prominent autistic features, hyperactivity, mild MR, mild language disorder, and a family history consistent with X-linked MR. Fragile X expression was 3% in the proband and 0% in the mother. These cases support the occurrence of fragile X in autistic females and emphasize the importance of cytogenetic screening for fragile X in this high risk population. Early diagnosis of fragile X allows precise genetic counseling and more specific cognitive and pharmacologic treatment.
 ...
PMID:Autism in association with fragile X syndrome in females: implications for diagnosis and treatment in children. 320 May 5

Syncopes due to compulsive respiratory stereotypies were studied in eight patients with autistic features. Most had been referred for episodes thought to be intractable epileptic seizures. Polygraphic recording showed two types of syncope, one induced by prolonged apnea and the other by a prolonged Valsalva maneuver. Fenfluramine, 1.5-3 mg/kg per day, was given in an open trial. In four of five cases with frequent Valsalva maneuvers, respiratory stereotypies and syncopes were suppressed for 2-18 months. Patients with periodic apneas were more severely retarded and had less clear benefit. Side effects consisted of dose-dependent sedation and mild weight loss which stabilized without interrupting treatment. We suggest that these syncopes are volitional and may be associated with pleasant sensations. A double-blind placebo-controlled trial of fenfluramine seems warranted in such patients.
J Autism Dev Disord 1987 Sep
PMID:Compulsive respiratory stereotypies in children with autistic features: polygraphic recording and treatment with fenfluramine. 365 90

Using observations of the stereotyped productions in six cases of autism, the author has studied the different functions of the stereotypies. First of all the stereotypy is a containing envelope which protects by means of an archaic modality of motoric control, and filters exchanges with the exterior by the flexibility of its production. Moreover, the stereotypy is centered on selective sensations, bringing in to play body regions which are revealed in the first sensory experiences of the infant. This production of sensations is individualized by everyone in a particular and significant way of being in the world. Stereotypy, like an insatiable search for sensations never lost, never found, is the corporal pursuit of personal wholeness, always in question. Stereotypy, while curtailing the subject, can also be a generator because it is a personal anchor, an evocation of originating experience. It should in any case be understood as a possible mode of irreducible communication.
 ...
PMID:[Stereotypy in infantile autism]. 378 81

The relationship of instructional prompts to rate of task completion and stereotypy was studied in one adolescent student with autism and high-frequency stereotypic behavior. Using an ABAB design, one experiment was conducted which systematically examined the role of prompts on (a) task completion and (b) time engaged in stereotyped behavior. Results suggested that prompts had little effect on the rate of task completion across sessions but did reduce time spent in stereotypies. These results are discussed in relation to stereotypies and implications for intervention and instruction.
 ...
PMID:Instructional conditions and stereotyped behavior: the function of prompts. 770 9

Results of recent studies in pharmacotherapy in autism are presented. Haloperidol, fenfluramine and naltrexone have been the most extensively studied drugs in systematic research. Haloperidol appeared to decrease levels of hyperactivity, stereotypies, emotional lability but also abnormal object relations and social withdrawal. However, the therapeutic effect was generally modest and long term administration was associated with dyskinesias in autistic children. The frequent hyperserotonemia in autism has suggested the use of fenfluramine, an antiserotoninergic agent. Although the initial reports were optimistic, more recent carefully designed studies often failed to show that fenfluramine was superior to placebo. Naltrexone, a potent opiate antagonist, was explored following the opioid hypothesis based on the similarity between autistic symptomatology and abnormal behaviors observed in opiate addicts and in laboratory animals administered opiates and on the abnormalities of endogenous opioids that exit in a subgroup of autistic children. However, the current studies do not concur and no definite conclusions can be made of the efficacy of naltrexone at present time. Low doses of amisulpride which have been shown to improve negative symptoms in schizophrenia and serotoninergic antidepressants, which have proven effective in repetitive and ritualized behaviors, have recently began to be evaluated in controlled studies. At present time, no medication has shown to alter the course or the symptoms of autism, but some seem to be effective in reducing severe aberrant behaviors.
 ...
PMID:[Psychopharmacology of autism]. 876 48

The aim of the present study was to replicate earlier findings of beneficial effects of ORG 2766, an ACTH-(4-9) analog, in autistic children. Fifty children with autism, 7-15 years old and with a Performance IQ of more than 60, participated in a double-blind placebo controlled parallel trial. Active treatment was 40 mg ORG 2766 for 6 weeks. The outcome was assessed on the basis of the Aberrant Behavior Checklist completed by parents and teachers, and by means of a detailed behavioral observation (30 subjects). ORG 2766 failed to improve social and communicative behavior at a group level. The rate of individual response, defined as a reliable change in social withdrawal at home and at school, to ORG 2766 (10 out of 30) and placebo (4 out of 20) was not significant either. The children who responded to ORG 2766, but not those who responded to placebo, manifested significant improvements outside the changes in the defining variables, including a decrease in hyperactivity at school. The responders to ORG 2766 were characterized mainly by a relatively lower PIQ; further by more initial hyperactivity, stereotypies and abnormal speech, and less initial eye contact. The responders to placebo could not be differentiated from the non-responders to placebo. Future studies should examine whether ORG 2766 differentially affects various subtypes of autism.
 ...
PMID:A controlled trial with ORG 2766, an ACTH-(4-9) analog, in 50 relatively able children with autism. 886 33

Stereotypies are patterned, repetitive, purposeless movements that are performed the same way each time. They are commonly seen in individuals with autism, schizophrenia, or mental retardation, and also occur as a feature of tardive dyskinesia and as movements in those with akathisia. We studied 10 children who had stereotypies but were not autistic or mentally retarded. Although most had an uneventful delivery, seven had mild to moderately delayed developmental milestones. Five had hyperactive behavior or attention-deficit problems. All appeared to be of normal intelligence. The median age of onset of stereotypies was 12 months. The stereotypies including arm flapping, arm and hand posturing, finger wiggling, body rocking, leg shaking, facial grimacing, involuntary noises, neck extension, and eye blinking. Of the 10 children, only two stopped having stereotypies eventually without medications.
 ...
PMID:The characterization and outcome of stereotypical movements in nonautistic children. 899 53

The first experiment involved 143 individuals with severe and profound mental retardation. Individuals with Stereotypic Movement Disorder, Self-Injurious Behavior (SIB), and Stereotypic movement disorder with self-injurious behavior as assessed by the Diagnostic Assessment for the Severely Handicapped-II DASH-II were validated against Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV; American Psychiatric Association, 1994) criteria. In a second study DASH-II scores for 1480 individuals with severe and profound mental retardation were compared on demographic variables, core and associated features of each disorder. Characteristics of persons in each group were reviewed. Persons with profound mental retardation were more likely to evince stereotypies or self-injury compared to their severely impaired counterparts. Also, those with stereotypies were more likely to present with Pervasive Developmental Disorder (PDD)/autism, organicity, and eating disorders, while persons with SIB were more likely to evince sleep, sexual, and eating disorders.
 ...
PMID:Characteristics of stereotypic movement disorder and self-injurious behavior assessed with the Diagnostic Assessment for the Severely Handicapped (DASH-II). 940 28

Autism is a behaviorally defined, life-long static developmental disorder of the brain that is poised for neurobiological investigation. It affects at least 1 or 2 in 1000 persons and has a broad range of severity. It has multiple causes, with genetics playing a major role. According to the DSM-IV, defining features are impaired sociability, language and communication, and range of interests and activities. Mental deficiency is frequent but by no means universal. The cognitive profile is characteristic, occasionally with a superior but narrow talent. Perseveration, concreteness, affective blunting, and lack of insight into other persons' thinking may be conspicuous. The neurological basis of autism's many sensorimotor features, including stereotypies, is unknown. Attention and sleep are affected, and one third of individuals experience epilepsy by adulthood. Whether subclinical epilepsy plays a role in the developmental regression of the one third of the toddlers who lose their language skills and become autistic remains to be determined. Clinical neuroimaging and biochemical investigations are generally unremarkable. Fewer than 35 brains have been examined pathologically, none with modern techniques. The findings thus far suggest subtle prenatal neuronal maldevelopment in the cerebellum and certain limbic structures. Abnormalities in distributed networks involving serotonin and perhaps other neurotransmitters require further documentation.
 ...
PMID:Neurobiology of autism. 945 Jul 63

Rett syndrome (RS) is one of the most frequent causes of mental retardation in females. As there are no known biochemical, genetic, or morphological markers, diagnosis is based on clinical phenotype including severe dementia, autism, truncal ataxia/apraxia, loss of purposeful hand movements, breathing abnormalities, stereotypies, seizures, and extrapyramidal signs. Myoclonus, although reported in some series, has never been characterized. We studied 10 RS patients, age 3 to 20 years, and observed myoclonus in 9. Severity of myoclonus did not correlate with that of the other symptoms or with age. Multifocal, arrhythmic, and asynchronous jerks mainly involved distal limbs. Electromyographic bursts lasted 48 +/- 12 msec. Burst-locked electroencephalographic averaging generated a contralateral centroparietal premyoclonus transient preceding the burst by 34 +/- 7.2 msec. Motor evoked potentials showed normal latencies, indicating integrity of the corticospinal pathway. Somatosensory evoked potentials were enlarged. The C-reflex was hyperexcitable and markedly prolonged (62 +/- 4.3 msec), mainly due to increase in cortical relay time (28.4 +/- 4.5 msec). We conclude that RS patients show a distinctive pattern of cortical reflex myoclonus with prolonged intracortical delay of the long-loop reflex.
 ...
PMID:Cortical reflex myoclonus in Rett syndrome. 954 28


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>