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

We report the case of a boy whose development was normal until the age of three when regression with loss of speech occurred. Other anomalies included eating and sleep disorders, sterotyped behavior disorders, suggesting infantile psychosis. The electroencephalogram evidenced paroxysmal anomalies, particularly during sleep, with no clinical seizures. The diagnosis of epilepsia-acquired aphasia syndrome (Landau-Kleffner syndrome) was made. The psychotic disorders were not considered as a differential diagnosis but rather as intertwined with the elements of the syndrome. The relationship between acquired aphasia and psychosis are discussed.
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PMID:[Epilepsy-acquired aphasia syndrome with psychosis. Report of a case ]. 169 43

The complex relationship between epilepsy, language, and behavior is not well understood. Neurologic disorders such as Landau-Kleffner syndrome, electrical status epilepticus during slow-wave sleep, infantile spasms, Lennox-Gastaut syndrome, tuberous sclerosis, autism, and developmental language disorders are useful clinical models in the investigation of this complex relationship. These disorders are reviewed in terms of their contribution to our present knowledge of the relationship between epilepsy, language, and behavior. Present management issues and directions for future research are discussed.
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PMID:Epilepsy, language, and behavior: clinical models in childhood. 751 8

The electroencephalographic abnormalities seen in Landau-Kleffner syndrome (LKS) (language deterioration) are non-specific, and consist of a variety of epileptiform discharge patterns including continuous slow spike-wave discharges during sleep, focal sharp waves with spikes, and centrotemporal (rolandic) spikes. Similarly, the EEG abnormalities seen in autistic epileptiform regression (language and social/behavioral deterioration) are non-specific and overlap with those seen in LKS. By contrast, distinct epilepsy syndromes in otherwise normal children occur in the EEG-defined benign focal epilepsies of childhood. Occipital spikes or spike-wave present either in the older child with visual symptoms and headache or in the younger child with autonomic symptoms followed by brief or prolonged partial motor seizures. Seven young children (five from a consecutive series of 42) presenting clinically with autism or autistic regression and possible or definite seizures, whose EEGs revealed occipital spikes or spike-wave characteristic of the benign epilepsies, are reported. Although occipital spikes are commonly seen in young children as an age-dependent EEG-defined benign focal epilepsy, their high frequency in this population with cognitive difficulties suggests a possible causal relation. The effects of the epileptiform discharge on cognitive functioning presumably reflect extension into temporal and parietal lobes, rather than occipital disturbances per se.
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PMID:Autism and autistic epileptiform regression with occipital spikes. 969 58

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.
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PMID:Outcome of multiple subpial transections for autistic epileptiform regression. 1042 32

Language regression is observed both in autistic regression and as part of acquired epileptic aphasia (Landau-Kleffner Syndrome). We prospectively identified 177 children with language regression at four major medical centers, and their clinical characteristics were recorded. Their mean age at regression was 22.8 months. The mean time-to-specialist referral was 38 months of age. Most children (88%) met criteria for autism or manifested autistic features. Males (P = 0.02) and children less than 3 years of age who regressed (P = 0.016) had a higher probability of developing autistic behaviors. Seizures were more common in children who regressed after they reached 3 years of age (P < 0.001), and children with seizures were less likely to have associated autistic regression (P < 0.001). Electroencephalogram abnormalities were reported in 37% of patients and were more common in children with seizures (P < 0.001). At last follow-up, language function was impaired in 88% of the children, although some improvement was noted in 57%. We conclude that the loss of previously acquired language at any age, even if that language only includes a few words or communicative gestures, is often associated with a more global regression in cognition and/or behavior and has serious implications for future function. Early identification and referral of these children is necessary to allow for diagnosis and intervention.
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PMID:Language regression in childhood. 1130 Dec 18

Some neurological disorders may present psychiatric signs and symptoms, therefore the search for an etiological diagnosis is crucial. The aim of this study is to report the case of a patient with a neurological disorder, diagnosed during a psychiatric admission. A boy with normal neuropsychomotor development until the age of 3 years, started presenting epileptic seizures, followed by behavioral disorder and language deterioration. During neurologic follow-up, the patient was referred to the Psychiatry Department with a diagnosis of autism, in this case an autistic regression (AR). During his admission, diagnosis of Landau-Kleffner syndrome (LKS) was established on clinical and EEG grounds. LKS is characterized by acquired aphasia, epilepsy, EEG abnormalities and behavioral changes, including autistic traits. Language regression is observed LKS and AR. We stress the main differences between these two entities because misdiagnosis may postpone early intervention and consequent benefits, as observed in our case.
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PMID:[Landau-Kleffner and autistic regression: the importance of differential diagnosis]. 1236 57

Acquired and developmental comorbid conditions, including language and behavioral disorders, are often associated with epilepsy. Although the relationship between these disorders is not fully understood, their close association may indicate that they share common features, suggesting that these conditions may respond to the same therapies. Not only has vagus nerve stimulation (VNS) therapy been proven to reduce the frequency of pharmacoresistant seizures in epilepsy patients, but preliminary studies also indicate that VNS therapy may improve neurocognitive performance. On the basis of these findings, we hypothesized that VNS therapy would improve the quality of life of patients with either Landau-Kleffner syndrome (LKS) or autism, independent of its effects on seizures. Data were retrospectively queried from the VNS therapy patient outcome registry (Cyberonics, Inc; Houston, TX, USA). A constant cohort of 6 LKS patients and 59 autistic patients were identified. Among the LKS patients, 3 patients at 6 months experienced at least a 50% reduction in seizure frequency as compared with baseline. Physicians reported quality-of-life improvements in all areas assessed for at least 3 of the 6 children. More than half of the patients with autism (58%) experienced at least a 50% reduction in seizure frequency at 12 months. Improvements in all areas of quality of life monitored were reported for most patients, particularly for alertness (76% at 12 months). Although these preliminary findings are encouraging, a prospective study using standardized measurement tools specific to these disorders and a longer-term follow-up are necessary to better gauge the efficacy of VNS therapy among these patient populations.
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PMID:The effects of vagus nerve stimulation therapy on patients with intractable seizures and either Landau-Kleffner syndrome or autism. 1279 30

There is an increased but variable risk of epilepsy in autism. Three main factors--age, cognitive level, and type of language disorder--account for variability in the reported prevalence of epilepsy. The prevalence is highest in studies that have included adolescents and young adults, individuals with moderate to severe mental retardation and those with motor deficits, and individuals with severe receptive language deficits. The association of autism with clinical or subclinical epilepsy might denote common genetic factors in some cases. Whether subclinical epilepsy has adverse effects on cognition, language, and behaviour is debated, as is the relation of autistic regression with an epileptiform electroencephalogram to Landau-Kleffner syndrome. There is no evidence-based treatment recommendation for individuals with autism, regression, and subclinical epilepsy. Double-blind studies with sufficient power to resolve this issue are urgently needed.
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PMID:Epilepsy in autism. 1284 96

Apart from control of the seizures, two of the most important factors in determining how well a child with epilepsy progresses toward independence are cognition and behavior. The diagnosis of the correct epilepsy syndrome often provides information with regard to probability of good seizure control and intellectual outcome. However, relatively little has been published on the behavioral aspects of the various epilepsy syndromes. In West syndrome there is emerging evidence that early effective treatment might improve outcome in terms of both cognition and behavior. The work on this syndrome in children with tuberous sclerosis has demonstrated an association between temporal lobe tubers and autism. In Dravet syndrome, a variety of psychiatric disorders have been reported, including hyperactivity and autistic features. This is another epilepsy syndrome that tends to be resistant to treatment, implying that the prognosis has to be guarded. The behavioral problems reported with Lennox-Gastaut syndrome also include autistic features, as well as generally sluggish behavior. It is very likely that these characteristics largely reflect the effect of ongoing seizure activity. Autistic features, aggression, and hyperkinesis have been described with Landau-Kleffner syndrome. The behavior may improve dramatically with appropriate medical treatment or after multiple subpial transection. Although the syndrome of benign partial seizures with centrotemporal or rolandic spikes is said to have a very good prognosis, it is becoming increasingly evident that behavioral problems such as concentration difficulties, tempers, hyperactivity, and impulsivity might occur. Juvenile myoclonic epilepsy has been associated with very variable behavioral traits, sometimes with immature personality features and poor social adjustment suggesting frontal lobe dysfunction. Because many of the reports of behavioral disturbance associated with epilepsy syndromes are anecdotal and do not include validated measures of behavior it would be unwise to draw firm conclusions from them at this stage. Carefully conducted prospective studies, paying particular attention to any behavioral improvements that occur with successful treatment of the epilepsy, are required.
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PMID:Behavioral aspects of pediatric epilepsy syndromes. 1472 41

The occurrence of developmental regression in autism is one of the more puzzling features of this disorder. Although several studies have documented the validity of parental reports of regression using home videos, accumulating data suggest that most children who demonstrate regression also demonstrated previous, subtle, developmental differences. Counter to clinical intuition, the earlier development of social, language, and attachment behaviors followed by regression does not seem to support later recovery of skills or better developmental outcomes compared to children who never had speech or typical social responsivity. In fact, this regressive group may have somewhat greater developmental impairment than the nonregressive group, though the two groups do not appear to present different behavioral phenotypes. Although autism is not the only condition in which regression occurs, it appears to be the most frequent condition. Other disorders that demonstrate an early regression with no known etiology include total blindness from birth and childhood disintegrative disorder, both of which demonstrate behavioral relations to autism. In addition, two biological conditions with known etiologies also involve regression with some behaviors resembling autism behavioral phenotype: Rett syndrome (a genetic disorder; see Glaze, this issue) and Landau-Kleffner syndrome (see McVicar and Shinnar, this issue), which involves a seizure disorder.
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PMID:Developmental regression in autism spectrum disorders. 1536 72


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