1/23. Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13.Duplications of chromosome 15 have been reported in individuals with atypical autism, varying degrees of mental retardation, and epilepsy. The authors report the molecular analysis, neurophysiologic, and clinical evaluation of a 12-year-old boy with atypical autism and epilepsy due to a maternally derived 15q11-q13 duplication. Their findings suggest that this chromosomal region harbors genes for autism and possibly for partial epilepsy that may act in a dose-dependent manner.- - - - - - - - - - ranking = 1keywords = autism (Clic here for more details about this article) |
2/23. Outcome of multiple subpial transections for autistic epileptiform regression.Treatment options for atypical forms of landau-kleffner syndrome (LKS) are not well delineated. Many patients with typical LKS fail to respond to antiepileptic drug treatment, but some benefit from multiple subpial transections (MSTs). The authors report seven patients with autism or autistic epileptiform regression who responded in varying degrees to MSTs after failed medical management. These patients derived from an original cohort of 36 children (29 males, seven females, ranging from 2 years, 3 months to 11 years, 3 months, mean age = 5 years, 8 months) with a history of language delay or regression, as well as varying degrees of social and behavioral abnormalities, who were evaluated with video-electroencephalogram (EEG) monitoring over a 2-year period. Fifteen patients had clinical seizures (11 of the 19 children with autistic epileptiform regression and four of 12 autistic children). epilepsy was refractory to medication in seven. Surgical treatment variously involved MSTs of the left neocortex in temporal, parietal, and frontal regions, often including regions within the classic perisylvian language areas. One patient also had a left temporal lobectomy. In all seven patients, seizure control or EEG improved after MSTs. Language, social, and overall behavior improved to a moderate degree, although improvements were temporary in most. Autistic epileptiform regression resembles LKS in that both may respond to MST. MST is used to treat epilepsy in eloquent regions. The responsiveness of autistic epileptiform regression to MST buttresses the argument that autistic epileptiform regression is a form of focal epilepsy.- - - - - - - - - - ranking = 0.33333333333333keywords = autism (Clic here for more details about this article) |
3/23. Is schizophrenia a risk factor for epilepsy or acute symptomatic seizures?PURPOSE: The precise prevalence of epilepsies and seizures in patients with schizophrenia remains unclear. methods: To assess the prevalence of epilepsy and of acute symptomatic seizures in schizophrenics, we conducted a survey in a urban sector of Marseilles that includes 56,910 inhabitants, among whom 1,154 had been treated for psychiatric disorders, including 460 for schizophrenia or paranoid disorder (PD) (DSM III-R 295 and 297.1, respectively; mean age, 41.9 years; range, 17-79 years; 215 men and 245 women). RESULTS: All 460 patients were receiving long-term neuroleptic drug therapy, and 397 had been hospitalized at least once in the past year, whereas 63 were followed up as outpatients only. seizures were present in the history of 12 patients: five had various forms of chronic epilepsy (four men, one woman; DSM III-R 295.1, one case; 295.3, two cases; 295.9, two cases), and three of these experienced seizures only after the onset of their psychiatric condition; five had acute symptomatic seizures (four men, one woman; 295.1, two cases; 295.3, 295.9, and 297.1, one case), and two had only pseudoepileptic events (both 295.3). CONCLUSIONS: This survey shows that the prevalence of epilepsy and acute symptomatic seizures is comparatively low in patients with schizophrenia or PD (10.8 per thousand each, respectively), and that the prevalence of a history of seizures (21.7 per thousand in this study) is not particularly increased in this middle-aged population. In contrast to childhood-onset autistic disorders, schizophrenia or PD are not major risk factors for epilepsy or acute symptomatic epileptic seizures.- - - - - - - - - - ranking = 3.6055420346971keywords = autistic disorder (Clic here for more details about this article) |
4/23. Autism associated with the mitochondrial dna G8363A transfer rna(Lys) mutation.We report a family with a heterogeneous group of neurologic disorders associated with the mitochondrial dna G8363A transfer ribonucleic acid (rna)Lys mutation. The phenotype of one child in the family was consistent with autism. During his second year of life, he lost previously acquired language skills and developed marked hyperactivity with toe-walking, abnormal reciprocal social interaction, stereotyped mannerisms, restricted interests, self-injurious behavior, and seizures. brain magnetic resonance imaging (MRI) and repeated serum lactate studies were normal. His older sister developed signs of Leigh syndrome with progressive ataxia, myoclonus, seizures, and cognitive regression. Her laboratory studies revealed increased MRI T2-weighted signal in the putamen and posterior medulla, elevated lactate in serum and cerebrospinal fluid, and absence of cytochrome c oxidase staining in muscle histochemistry. Molecular analysis in her revealed the G8363A mutation of the mitochondrial transfer rna(Lys) gene in blood (82% mutant mitochondrial dna) and muscle (86%). The proportions of mutant mitochondrial dna from her brother with autism were lower (blood 60%, muscle 61%). It is likely that the origin of his autism phenotype is the pathogenic G8363A mitochondrial dna mutation. This observation suggests that certain mitochondrial point mutations could be the basis for autism in some individuals.- - - - - - - - - - ranking = 1.3333333333333keywords = autism (Clic here for more details about this article) |
5/23. A 15-year follow-up of a boy with pyridoxine (vitamin B6)-dependent seizures with autism, breath holding, and severe mental retardation.pyridoxine (vitamin B6) (2q31) dependency is a rare autosomal-recessive disorder that causes a severe seizure disorder of prenatal or neonatal onset. The abnormality appears to inhibit the binding of vitamin B6 to the enzyme glutamic acid decarboxylase-1, which is needed for the biosynthesis of gamma-aminobutyric acid (GABA). Most patients with pyridoxine-dependent seizures require lifelong treatment with pyridoxine. The full range of associated symptomatology is unknown since fewer than 100 cases have been reported. A majority of cases are mentally retarded. We report a 15-year-old boy with pyridoxine-dependent seizures, nonpyridoxine-dependent seizures, severe mental retardation, autistic disorder, aerophagia, breath holding, and self-injury. This complex outcome should alert clinicians to the wide range of neuropsychiatric outcomes associated with this disorder.- - - - - - - - - - ranking = 4.9388753680304keywords = autistic disorder, autism (Clic here for more details about this article) |
6/23. Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome).Chromosome 22q11 deletion (CATCH 22 syndrome or velocardiofacial syndrome) is one of the most frequent chromosomal syndromes. Neurological features other than cognitive disorders are probably the least-described part of the expanding phenotype of the 22q11 deletion. We report the neurological features of three unrelated children with a de novo deletion: one patient with an autistic disorder, a second patient with hypocalcaemic neonatal seizures and unusual persistent epileptic focus at electroencephalographic follow-up, and a third patient with atypical absence epilepsy. These observations enlarge the clinical and neurological spectrum of the 22q11 deletion. awareness of such cases is necessary, and a diagnosis of the 22q11 deletion should be suspected in children with common neurological features associated with severe or mild dysmorphism. diagnosis of the 22q11 deletion should be confirmed by fluorescence in situ hybridization analysis associated with standard chromosomal analysis.- - - - - - - - - - ranking = 3.6055420346971keywords = autistic disorder (Clic here for more details about this article) |
7/23. Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex.tuberous sclerosis is one of the few established medical causes of autism spectrum disorder and is a unique neurogenetic model for testing theories about the brain basis of the syndrome. We conducted a retrospective case study of the neuro-epileptic risk factors predisposing to autism spectrum disorder in individuals with tuberous sclerosis to test current neurobiological theories of autism spectrum disorder. We found that an autism spectrum disorder diagnosis was associated with the presence of cortical tubers in the temporal but not other lobes of the brain. Indeed, the presence of tubers in the temporal lobes appeared to be a necessary but not sufficient risk factor for the development of an autism spectrum disorder. However, contrary to the predictions of some theories, the location of tubers in specific regions of the temporal lobe, such as the superior temporal gyrus or the right temporal lobe, did not determine which individuals with temporal lobe tubers developed an autism spectrum disorder. Instead, outcome was associated with various indices of epileptic activity including evidence of temporal lobe epileptiform discharges on EEG, the age to onset of seizures in the first 3 years of life and a history of infantile spasms. The results indicated that individuals with tuberous sclerosis are at very high risk of developing an autism spectrum disorder when temporal lobe tubers are present and associated with temporal lobe epileptiform discharges and early-onset, persistent spasm-like seizures. These risk markers constitute useful clinical indicators of prognosis, but further research is required to identify the neurobiological mechanisms responsible for their association with outcome. Most especially, it will be important to test whether, as the findings suggest, there is a critical early stage of brain maturation during which temporal lobe epilepsy perturbs the development of brain systems that underpin 'social intelligence' and possibly other cognitive skills, thereby inducing an autism spectrum disorder.- - - - - - - - - - ranking = 4keywords = autism (Clic here for more details about this article) |
8/23. Language dysfunction in epileptic conditions.epilepsy may disrupt brain functions necessary for language development by its associated intellectual disabilities or directly as a consequence of the seizure disorder. Additionally, in recent years, there has been increasing recognition of the association of epileptiform electroencephalogram (EEG) abnormalities with language disorders and autism spectrum disorders. Any process that impairs language function has long-term consequences for academic, social, and occupational adjustments in children and adolescents with epilepsy. Furthermore, impairments in specific language abilities can impact memory and learning abilities. This article reviews interictal language function in children and adults with epilepsy; epilepsy surgery and language outcome; and language disorders associated with abnormal EEGs. The relationship between epilepsy and language function is complicated as the neuroanatomic circuits common to both overlap. We demonstrate how magnetoencephalography (MEG) offers the ability to analyze the relationship of language, EEG abnormalities, and epilepsy.- - - - - - - - - - ranking = 0.33333333333333keywords = autism (Clic here for more details about this article) |
9/23. Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits.A pair of monozygotic male twins with tuberous sclerosis (TS) were followed between 18 months and 3 years of age. Twin A with 25 large cortical tubers and hence extensive brain involvement was moderately mentally retarded and met criteria for autism. The other twin had more (n = 31) but smaller tubers. He was not mentally retarded and did not meet criteria for autism. This study provides evidence that nongenetic factors such as extent of brain abnormality and not just number of cortical tubers are important in determining phenotypic variability in TS. The findings also raise questions about the mechanisms giving rise to autism in TS.- - - - - - - - - - ranking = 1keywords = autism (Clic here for more details about this article) |
10/23. Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.Rearrangements of chromosome 15q, including isodicentric 15 chromosomes and interstitial duplications and triplications, have been previously reported in association with autism spectrum disorders. We have identified two boys with exceptionally large der(15) chromosomes that are tricentric and contain four copies of the proximal long arm, including the Prader Willi/Angelman critical region, and leading to hexasomy of the involved segment. Biallelic inheritance of maternal alleles and methylation analysis indicate that the markers are maternally derived. Clinical assessment of the boys indicated severe cognitive impairment associated with marked delays in gross and fine motor skills. Social and language deficits were present in both, although the severity of the mental retardation precluded diagnosis of autism (both were considered to have pervasive developmental disorder-not otherwise specified). neurologic manifestations included infantile spasms evolving into intractable early-onset myoclonic seizures, psychomotor regression, and profound diffuse hypotonia. These patients represent the most severe end of the spectrum of phenotypes associated with segmental aneuploidy for chromosome 15q11-q13.- - - - - - - - - - ranking = 0.66666666666667keywords = autism (Clic here for more details about this article) |
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