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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The effects of haloperidol and a mild punishment on the severe self-injurious behavior and several collateral behaviors of a 17-year-old profoundly retarded male were assessed. A 12-month analysis using a withdrawal design suggested that neither the medication nor the behavioral intervention alone was effective in significantly reducing the frequency of self-injurious behavior. When combined, however, these interventions produced dramatic reductions in the subject's self-injurious behavior. The haloperidol may have acted as a "setting event" for the successful use of the punishment. Suppression of this behavior was maintained at 6 months and 1 year following the end of the analysis. The collateral behaviors were differentially affected by the behavioral and pharmacological interventions. Time spent in bed and the appearance of drooling increased with the introduction of the haloperidol, while percent correct on a fine-motor task increased only when the interventions were applied simultaneously. The results point out the importance of a careful behavioral analysis for both pharmacological and behavioral interventions and their possible combined actions.
J Autism Dev Disord 1982 Sep
PMID:A behavioral/pharmacological intervention for the treatment of severe self-injurious behavior. 715 99

Autism is a disorder characterised by abnormalities in language and social development, and repetitive behaviours. Antipsychotics, including haloperidol and risperidone, are the most widely studied drugs for reducing symptoms in children and adolescents with autism. When administered at relatively low dosages, antipsychotics have been shown to reduce repetitive behaviours (stereotypies) and social withdrawal, as well as a number of related symptoms, such as hyperactivity, aggression, self-abusive behaviour, temper tantrums, lability of mood and irritability. Adverse effects of antipsychotics include sedation, dizziness, increased appetite, weight gain, changes in the electrocardiogram parameters, drooling, hyperprolactinemia and a risk of drug-related dyskinesias. Other agents have been less well studied for the treatment of autism, but there are suggestive data regarding their safety and efficacy. Of these agents, a number have been investigated, based on theories about the aetiology of autism, including SSRIs and naltrexone, although the efficacy of these agents has been limited. Stimulant drugs have been shown to reduce hyperactivity and improve focus, but they may cause behavioural worsening, weight loss and stereotypies de novo. Secretin is a treatment that has received much media attention after reports of efficacy from small open studies, but all controlled studies have failed to show any benefit. In autism, alternative treatments have also been used, but none have shown benefit in well-designed studies.
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PMID:Advances in drug treatments for children and adolescents with autism and other pervasive developmental disorders. 1626 64

This case report describes an alternative method for reducing bruxism in a special needs patient who was not a candidate for an intraoral appliance. Bruxism is often seen in patients with special needs and can result in excessive dental wear, temporo-mandibular joint pain, avulsion of teeth and other problems. Current methods of management are not typically effective in this population because most require patient compliance. An 11-year-old male diagnosed with autism and Bannayan-Zonana syndrome received bilateral injections of botulinum toxin type-A (Botox Allergan Pharmaceuticals, Irvine CA) in the masseter muscle. The patient's condition was followed up via post-operative telephone interviews with the parents for 60 days. A reduction in the frequency and severity of bruxism was reported. The only side effects noted were soreness at the injection site and mild, temporary drooling. Although further research is required to determine the optimal doses and injection frequency, botulinum toxin type-A appears to be an alternative method for controlling bruxism in the special needs population.
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PMID:The use of botulinum toxin-a in the treatment of severe bruxism in a patient with autism: a case report. 1670 33

Whole-exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, microcephaly and stereotypies but is yet to be fully described. Presented here are 14 new patients with IQSEC2 variants. In addition to the established features, we observed: gait ataxia in 7 of 9 (77.8%), drooling in 9 of 14 (64.2%), early feeding difficulties in 7 of 14 (50%), structural brain abnormalities in 6 of 13 (46.2%), brachycephaly in 5 of 14 (35.7%), and scoliosis and paroxysms of laughter each in 4 of 14 (28.6%). We suggest that these are features of the IQSEC2-related disorder. Gastrostomy requirement, plagiocephaly, strabismus and cortical blindness, each seen in 2 of 14 (14.3%), may also be associated. Shared facial features were noted in 8 of 14 patients, and shared hair patterning was identified in 5 of 14 patients. This study further delineates the IQSEC2 phenotypic spectrum and supports the notion of an emerging IQSEC2 syndrome. We draw parallels between the IQSEC2-related disorder and the Angelman-/Rett-/Pitt-Hopkins syndrome group of conditions and recommend the addition of IQSEC2 to epilepsy and developmental delay gene panels. We observed discordant phenotypes in monozygotic twins and apparent gonadal mosaicism, which has implications for recurrence risk counselling in the IQSEC2-related disorder.
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PMID:Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. 3066 32