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)

Although the FDA recommends imipramine hydrochloride (IMI) only for temporary relief of symptoms of enuresis nocturna (EN), the drug has been applied to a number of other pediatric situations, including the Hyperkinetic Syndrome (HS), childhood depression, somnambulism and pavor nocturnus, school phobia, petit mal epilepsy, allergies, autism, encorpresis and head-banging. We have reviewed the literature, with particular attention to the pharmacokinetics of IMI in children, and its putative mechanisms of action. The drug probably works through a number of different actions, and the futher delineation of these will be of considerable heuristic value. We review the toxic effects of IMI treatment and IMI poisoning in children, and the pediatric literature concerning other antidepressant drugs and lithium carbonate (Li).
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PMID:Imipramine and children: a review and some speculations about the mechanism of drug action. 40 23

Two case reports illustrate the therapeutic response of congenital nystagmus to a diet eliminating synthetic food colors, synthetic food flavors, the antioxidant preservatives butylated hydroxytoluene (BHT) and butylated hydroxyanisole (BHA), and a small group of foods thought to contain a natural salicylate radical. A brief discussion of the hyperkinetic syndrome is offered with the proposal that a variety of neurologic and neuromuscular disturbances (grand mal, petit mal, psychomotor seizures; La Tourette syndrome; autism; retardation; the behevioral component of Down's syndrome; and oculomotor disturbances) may be induced by identical chemicals, depending upon the individual's genetic profile and the interaction with other environmental factors. It is perhaps the failure to integrate all the signs presented by the various clinical patterns with hyperkinesis or Minimal Brain Dysfunction (MBD) under a single heading that eye muscle involvement manifested as either nystagmus or strabismus has not been emphasized as part of the hyperkinetic syndrome.
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PMID:Dietary management of nystagmus. 46 22

With the aim of ascertaining the existence of medical conditions associated with autism, the presence of pre- and perinatal factors, family antecedents as well as the prevalence rate of different epileptic syndromes in the juvenile autistic population, we carried out a retrospective observational study and looked at the medical history of 62 autistic children so diagnosed in the neuropaediatric service at Barakaldo Hospital Cruces in the past twenty years. All of them were diagnosed by a child neurologist following DSM-III-R criteria, having been by the same physician on at least one occasion. From the etiologic point of view, eight children (13%) presented specific syndromes, fifteen (23%) presented encephalopathies acquired pre-or perinatally, two (3.2%) had brain tumours and the remaining thirty-seven (61%) presented critogenetic autism. 47% of autistic children were seen to have some kind of epileptic syndrome: six had idiopathic epilepsy (juvenile myoclonic epilepsy 1: partial benign epilepsy with Rolandic point 2 ; petit mal 1; generalised primary epilepsy grand mal type 1); eleven had cryptogenic epilepsy (myoclonic epilepsy 1 ; focal 7; grand mal 1; Lennox 2) and secondary epilepsy in eleven other cases (West 4; focal 6; grand mal). In the literature an epileptic frequency among autistic subjects is quoted as being between 16% and 35% dropping to 6% in slight cryptogenic autistic cases. Our frequency rate among autistic children is much higher, reaching 47% of the total and affecting 46% of cryptogenic autistic cases. There were no cases of polymorphic nursing epilepsy in our series. Idiopathic and cryptogenic epilepsy were more frequent in cryptogenic autism.
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PMID:[Clinical-radiological evaluation of infantile autism and epileptic syndromes associated with autism]. 855 18

This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders). The second group includes disorders with changing problems in adulthood (tuberous sclerosis complex, Rett syndrome, Dravet syndrome, and autism). A third group includes epilepsies that change with age (Childhood Absence Epilepsy, Juvenile Myoclonic Epilepsy, West Syndrome, and Lennox-Gastaut syndrome). A fourth group consists of epilepsies that vary in symptoms and severity depending on the age of onset (autoimmune encephalitis, Rasmussen's syndrome). A fifth group has epilepsy from structural causes that are less likely to evolve in adulthood. Finally we have included a discussion about the risk of later adulthood cerebrovascular disease and dementia following childhood-onset epilepsy. A detailed knowledge of each of these disorders should assist the process of transition to be certain that attention is paid to the most important age-related symptoms and concerns.
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PMID:Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. 2870 15

Aim We aim to assess whether electroencephalography (EEG) has a justified role in assessing staring episodes in children with Autism Spectrum Disorder (ASD); investigating for possible diagnosis of epilepsy. Methods This is a retrospective study on an Irish paediatric cohort. We reviewed EEG studies performed on children with ASD referred specifically for staring episodes to Children's Health Ireland at Temple Street between 2010 and 2017. Results There are 120 EEG tests; labelled as follows: 59.1%: normal, 22.5%: abnormal, 16.6%: borderline and 1.6%: 'limited study'. Background abnormalities are seen in 22.5% and interictal epileptiform abnormalities are seen in 16.6%. Absence seizures are captured in none. Conclusions Interictal EEG in ASD patients often yields false positive findings. EEG for investigating staring episodes in children with ASD are probably not useful.
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PMID:Assessing the Utility of Electroencephalography for Staring Episodes in Children with Autism. 3281 79