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

Celiac disease (CD) long has been associated with neurologic and psychiatric disorders including cerebellar ataxia, peripheral neuropathy, epilepsy, dementia, and depression. Earlier reports mainly have documented the involvement of the nervous system as a complication of prediagnosed CD. However, more recent studies have emphasized that a wider spectrum of neurologic syndromes may be the presenting extraintestinal manifestation of gluten sensitivity with or without intestinal pathology. These include migraine, encephalopathy, chorea, brain stem dysfunction, myelopathy, mononeuritis multiplex, Guillain-Barre-like syndrome, and neuropathy with positive antiganglioside antibodies. The association between most neurologic syndromes described and gluten sensitivity remains to be confirmed by larger epidemiologic studies. It further has been suggested that gluten sensitivity (as evidenced by high antigliadin antibodies) is a common cause of neurologic syndromes (notably cerebellar ataxia) of otherwise unknown cause. Additional studies showed high prevalence of gluten sensitivity in genetic neurodegenerative disorders such as hereditary spinocerebellar ataxia and Huntington's disease. It remains unclear whether gluten sensitivity contributes to the pathogenesis of these disorders or whether it represents an epiphenomenon. Studies of gluten-free diet in patients with gluten sensitivity and neurologic syndromes have shown variable results. Diet trials also have been inconclusive in autism and schizophrenia, 2 diseases in which sensitivity to dietary gluten has been implicated. Further studies clearly are needed to assess the efficacy of gluten-free diet and to address the underlying mechanisms of nervous system pathology in gluten sensitivity.
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PMID:Neurologic presentation of celiac disease. 1582 33

Motor and phonic tics are most frequently due to Tourette syndrome, but there are many other causes of tics. We analyzed data on 155 patients with tics and co-existent disorders (101M/54F; mean age 40.5 +/- 20.2 years). Fourteen (9.0%) patients had tics associated with an insult to the basal ganglia, such as head trauma (N = 4, 2.5%), stroke (N = 2, 1.2%), encephalitis (N = 3, 1.9%) and other causes. In addition, certain drugs, toxins, and post-infectious causes were associated with tics. Rarely, peripheral injury can cause movement disorders, including tics (N = 1, 0.6%). Pervasive developmental disorders, including Asperger's syndrome (N = 13, 8.3%), mental retardation (N = 4, 2.5%), autism (N = 3, 1.9%), and Savant's syndrome (N = 1, 0.6%), also may be associated with tics, as noted in 21 of the 155 patients (13.5%). Genetic and chromosomal disorders, such as Down's syndrome 5 (3.2%), neuroacanthocytosis (N = 2, 1.2%), and Huntington's disease (N = 1, 0.6%), were associated with tics in 16 patients (10.3%). We have also examined the co-existence of tics and other movement disorders such as dystonia (N = 31, 20.0%) and essential tremor (N = 17, 10.9%). Sixteen (10.3%) patients presented psychogenic tics, and one (0.6%) psychogenic tics and dystonia; conversely, Tourette syndrome preceded the onset of psychogenic dystonia (N = 1, 0.6%), and psychogenic tremor (N = 1, 0.6%) in two patients. Finally, 12 (7.7%) patients had tics in association with non-movement related neurological disorders, such as static encephalopathy (N = 2, 1.2%) and seizures (N = 3, 1.9%). To understand the physiopathology of tics and Tourette syndrome, it is important to recognize that these may be caused or associated with other disorders.
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PMID:Secondary tics and tourettism. 1596 46

Autism is defined by 3 main criteria: disturbance of reciprocal social interaction, disturbance of communication (including language comprehension and spoken language) and disturbance of normal variation in behaviour and imaginative activities; an onset before age 36 months is also required. The neuropediatric contribution to autism is dominated by the search for an underlying organic etiology, especially if there are arguments for an associated encephalopathy: ante- or perinatal medical history, dysmorphic signs, skin spots, neurological abnormalities, somatic abnormalities compatible with a neurometabolic disorder. The main associated conditions with autism are: chromosome anomalies, monogenic syndrome (including fragile X syndrome), neurocutaneous syndromes, epileptic encephalopathies, neurometabolic diseases, and dystrophinopathies. The identification of an associated medical condition to autism is primordial in prospect of genetic counselling, and by the change induced in familial perception of autism.
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PMID:[Neuropediatric approach to autism]. 1621 50

Between June 1993 and December 1996, 276 term newborn infants with encephalopathy and 564 randomly selected term controls were enrolled in a population-based study of moderate and severe term newborn encephalopathy (NE) in Western Australia. During comprehensive neurobehavioural and cognitive follow-up of all patients and controls at 3 years and again at 5 years of age we found an unexpected but strong association between NE and autism spectrum disorders (ASDs). A diagnosis of ASD by age 5 years was reached using criteria according of the Diagnostic Statistical Manual, 4th edition. Linking records to the Western Australian Disability Services Commission Register ensured that no child in the study with ASD was missed. By age 5 years, 37 (13.4%) infants with NE and one (0.2%) control had died. Among the 239 survivors of NE, 12 (5%) were diagnosed with an ASD. Of these, 10 (4.2%) met the full criteria for autism, one had pervasive developmental disorder-not otherwise specified, and one had Asperger syndrome. Among the 563 surviving controls, five (0.8%) were diagnosed with an ASD: three with autism, one with autism/possible Asperger syndrome, and one with Asperger syndrome. Compared with the controls, the children who had experienced NE were 5.9 times (95% confidence interval 2.0-16.9) more likely to have been diagnosed with an ASD.
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PMID:Autism following a history of newborn encephalopathy: more than a coincidence? 1725 91

Rett syndrome, a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2), is a leading cause of mental retardation with autistic features in females. MECP2 mutations have also been identified in individuals with a variety of clinical syndromes, including mild learning-disability in females, neonatal encephalopathy in males, and psychiatric disorders, autism and X-linked mental retardation in both males and females. Furthermore, MECP2 duplications have been shown to cause a progressive postnatal neurological disorder. MeCP2 is a transcriptional repressor that binds to methylated CpG dinucleotides flanked by AT-rich segments and recruits a co-repressor complex, thereby altering chromatin structure. Subtle gene expression changes have been identified in Rett patients and mouse models; however, MeCP2 dysfunction has also been shown to cause abnormalities of RNA splicing, suggesting a complex molecular pathogenesis. Discovering which genes are misregulated in the absence of functional MeCP2 and demonstrating their role in causing neuronal dysfunction and disease manifestations are challenging but important steps for understanding the pathogenesis of Rett syndrome and related disorders.
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PMID:MeCP2 dysfunction in Rett syndrome and related disorders. 1664 48

A link has been postulated between regressive autism and the spectrum of epileptic encephalopathic conditions including Landau-Kleffner syndrome with the suggestion that subclinical epilepsy may be causative of regression in autism. This is an audit of investigation using sleep electroencephalograms (EEG) in 64 children (56 males, 8 females; mean age 35.6mo [SD 8.2mo]; range 18-48mo) with autism. No child had a history suggestive of epilepsy. Thirty-nine of the children presented with regressive autism and 20 of the participants showed some epileptiform abnormality. There was no significant difference in epileptiform activities in those who showed regression compared with those who did not. No child showed electrical status epilepticus with continuous spike-wave discharges in slow sleep. There was no evidence that these cases of autism with and without regression were associated with epileptic encephalopathy. The significance of epileptiform discharges without epilepsy in the sleep EEG in autism remains unknown.
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PMID:Sleep electroencephalograms in young children with autism with and without regression. 1678 Jun 32

L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder characterized by psychomotor delay, ataxia, macrocephaly and typical neuroradiological findings of subcortical leucoencephalopathy. Recently, the disease causing gene has been discovered (L2HGDH) encoding L-2-hydroxyglutarate dehydrogenase. We present a 3-year-old boy with L-2-HGA, who demonstrated macrocephaly, noted already in utero with ultrasound. Cranial MRI demonstrated diffuse subcortical encephalopathy with increased signal of the subcortical white matter. Subsequent metabolic screening revealed increased levels of L-2-HGA, and genomic DNA analysis demonstrated two missense mutations in L-2-HGDG. Patient's further motor development was mildly impaired, whilst his speech development was profoundly impaired (first words at the age of 2 years). Since the age of 2 years he started demonstrating autistic repetitive behaviors and movements, increasing aloofness to his environment and limitations in the variety of spontaneous activity (CARS score: 44/60-severe autism). Autism has not so far been described in L-2-HGA and may be considered as an additional feature of the phenotypic spectrum.
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PMID:L-2-Hydroxyglutaric aciduria presenting with severe autistic features. 1798 16

Rett syndrome is an X-linked dominant neurodevelopmental disorder. Mutation of the methyl-CpG-binding protein 2 gene (MECP2) is present in up to 96% of patients with Rett syndrome. Eight mutations represent the hotspot of MECP2 mutations (R106W, R133C, T158M, R168X, R255X, R270X, R294X, and R306C) in patients with classic Rett syndrome. The prevalence and survival rate of Rett syndrome among Chinese women was investigated. The 8 hotspot mutations and the A140V mutation were also studied in 4 cohorts of Chinese children (n = 144) actively followed up in our university neurodevelopmental center with classic Rett syndrome (n = 5), autism spectrum disorder (n = 94), epileptic encephalopathy of unknown cause (n = 22), and nonsyndromal mental retardation (n = 23). The prevalence of Rett syndrome among female Chinese younger than 35 years in Hong Kong West is 0.57 (95% confidence interval, 0.15-0.98) per 10 000. Survival is 100.0% at 10 years and 87.5% at 25 years. Three hotspot mutations (R106W, R255X, and R306C) were found in 3 girls with classic Rett syndrome. No hotspot MECP2 mutations were found in the other 3 cohorts. Screening of MECP2 mutations is not worthwhile in Chinese children with pure cognitive, autistic, or unexplained epileptic disorders without other signs of Rett syndrome. In the early stage of developmental arrest before developmental regression, MECP2 screening might be useful for girls with unexplained epileptic encephalopathy before full-blown classic Rett syndrome is evident.
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PMID:Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. 1817 59

Wernicke's encephalopathy (WE) or thiamine deficiency is fatal if left untreated. We report a case of a 3-year-old boy with infantile autism and a severe eating disorder who developed WE after 3 weeks of starvation without thiamine supplementation. The eating disorder started when he entered preschool. He presented with unconsciousness and a cluster of seizures. Cranial magnetic resonance imaging (MRI) showed high-intensity signal changes in the basal ganglia on T2-weighted images and fluid-attenuated inversion recovery (FLAIR). Treatment with high-dose intravenous thiamine was effective. Pediatric patients with WE tends to show no typical symptoms or brain lesions on MRI as seen in adult WE patients typically along alcoholics. Brain lesions similar to those in hypoxia or mitochondrial diseases such as Leigh's encephalopathy, are observed in patients with pediatric WE, and this makes diagnosis difficult. WE should be considered when patients with severe eating disorders present with unconsciousness and/or frequent seizures, and show basal ganglia lesions on MRI, differential diagnosis should include WE.
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PMID:[Case of infantile autism with pediatric Wernicke's encephalopathy due to severe eating disorder]. 1917 16

Epilepsy associated with tuberous sclerosis complex (TSC) is characterized by early onset and intractable seizures in the majority of children. There is a solid evidence of clinical efficacy of vigabatrin in interrupting infantile spasms associated with TSC. Due to an early diagnosis we were able to start vigabatrin at the very early onset of seizures in 10 children, who subsequently underwent a long-term neurodevelopmental follow-up. At the final evaluation, a seizure free status was achieved in 50% of patients; 30% of individuals had a normal or borderline mental development, with no patients developing severe mental retardation and/or autism. Early control of seizures has a crucial role in preventing subsequent epileptic encephalopathy, and in reducing the cognitive/behavioural consequences of seizures, but does not guarantee for a normal mental outcome in children with TSC.
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PMID:Early control of seizures improves long-term outcome in children with tuberous sclerosis complex. 1936 1


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