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Biomedical subjects

I Rapin

Publications and source records attributed to I Rapin.

At least 37 records · Page 2Linked to original sources
PubMed2000

The influence of premorbid language skills and behavior on language recovery in children with verbal auditory agnosia.

Previous studies of children with Landau-Kleffner syndrome and related language-epilepsy syndromes have focused on the relationship of seizure control to language recovery. We examined the effect of premorbid language skills and behavior, as well as some characteristics of clinical seizures and electroencephalograms, on language recovery in a retrospective study of 67 children with the severe receptive and expressive language disorder, verbal auditory agnosia. Fifty-eight percent of these children had seizures, 76% were autistic, and 24% had a history of language regression after showing previously normal language skills. The duration of language loss was not influenced by the persistence of clinical seizures. Premorbid language and behavior were more predictive of language recovery in these children. Most children with normal early language (acquired verbal auditory agnosia) had onset of language loss after age 3 years, in contrast to those with abnormal early language. Children with acquired verbal auditory agnosia were more likely to show fluctuations in language skills than those in other groups. Autistic children were more likely to begin having seizures before age 3 years, and had a longer duration of language loss and lower educational placement at time of last follow-up than those with normal behavior. This study emphasizes the importance of assessing premorbid language and behavior in predicting recovery of language skills in children with language-epilepsy syndromes.

Adolescent↗
PubMed1999

Consistency in the ratings of behaviors of communicatively impaired autistic and non-autistic preschool children.

Typically, children with disabilities are evaluated clinically by a number of professionals with different backgrounds whose task is to provide a diagnosis and an intervention plan. This study was carried out to describe interrater agreement for pairs of independent observers rating with different instruments the behaviors of 505 communicatively impaired autistic and nonautistic preschool children. Observers were parents, teachers, neurologists, and psychiatrists. Parents and teachers responded to behavioral questionnaires, neurologists filled out the mental status part of a standardized neurologic evaluation, and psychiatrists an observational questionnaire. All four types of observers rated sociability, language, play, attention, stereotyped, and other aberrant behaviors. Agreement between pairs of raters was significant but moderate. Owing to range restriction with smaller numbers of subjects, agreement decreased for ratings of subsamples divided according to diagnosis, cognitive level, or age. There were some differences among observers' ratings of the severity of particular categories of behaviors, with physicians generally viewing the children as more severely impaired and teachers as least impaired. Interrater agreement was not enhanced when parents and teachers rated similarly worded behavioral items. Modest interrater agreement in this study, like agreement among disparate raters of children's behaviors in other studies, suggests that observers are sensitive to different aspects of behavior and that their ratings are more likely to be complementary than unreliable.

Autistic Disorder↗
PubMed1999

Appropriate investigations for clinical care versus research in children with autism.

As disorders on the autistic spectrum are behaviorally defined, there is no medical test to diagnose autism. The purpose of a medical evaluation is to detect particular etiologies, and manifestations like clinical or subclinical epilepsy or behavior problems that might mandate pharmacologic intervention. Defining a unique syndrome or genetic etiology may benefit other family members, although, currently, specific causes are detectable in only a small minority of individuals on the autistic spectrum. The paper lists elements of the history, examination, and laboratory testing most likely to be informative in clinical practice. Ordering large numbers of tests in the absence of a specific clinical indication is not recommended because it is invasive, wasteful and unlikely to generate useful data. This is not true, of course, in the context of a hypothesis-driven, approved research protocol where collecting standardized data and applying the most up-to-date research technologies is appropriate.

Autistic Disorder↗
PubMed1999

The screening and diagnosis of autistic spectrum disorders.

The Child Neurology Society and American Academy of Neurology recently proposed to formulate Practice Parameters for the Diagnosis and Evaluation of Autism for their memberships. This endeavor was expanded to include representatives from nine professional organizations and four parent organizations, with liaisons from the National Institutes of Health. This document was written by this multidisciplinary Consensus Panel after systematic analysis of over 2,500 relevant scientific articles in the literature. The Panel concluded that appropriate diagnosis of autism requires a dual-level approach: (a) routine developmental surveillance, and (b) diagnosis and evaluation of autism. Specific detailed recommendations for each level have been established in this document, which are intended to improve the rate of early suspicion and diagnosis of, and therefore early intervention for, autism.

Asperger Syndrome↗
PubMed1999

Selective mutism.

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Anxiety Disorders↗
PubMed1999

Joubert syndrome: monozygotic twins with discordant phenotypes.

We describe three sisters with Joubert syndrome, two of whom are monozygotic twins with highly discordant phenotypes. The twins were born at 34 weeks' gestation with discordant birthweights. Their anatomic, neurologic, and developmental status differs greatly: Twin B is able to walk, run, and is verbal, unlike Twin A who is wheelchair-bound, severely retarded, nonverbal, and autistic. Abnormal eye movements and retinal dysplasia are striking features in all three girls, but none has renal cysts seen by ultrasonography. Magnetic resonance images show the "molar tooth sign," the radiologic hallmark of Joubert syndrome, although only one twin, the most severely handicapped, has severe hypoplasia of the cerebellar hemispheres. Phenotypic differences between the twins could be attributable to postzygotic unequal division of the inner cell mass, unequal sharing of the venous return from a monochorionic placenta, mosaicism, or a mutation of a modifying gene.

Cerebellum↗
PubMed1998

Neurobiology of autism.

Autism is a behaviorally defined, life-long static developmental disorder of the brain that is poised for neurobiological investigation. It affects at least 1 or 2 in 1000 persons and has a broad range of severity. It has multiple causes, with genetics playing a major role. According to the DSM-IV, defining features are impaired sociability, language and communication, and range of interests and activities. Mental deficiency is frequent but by no means universal. The cognitive profile is characteristic, occasionally with a superior but narrow talent. Perseveration, concreteness, affective blunting, and lack of insight into other persons' thinking may be conspicuous. The neurological basis of autism's many sensorimotor features, including stereotypies, is unknown. Attention and sleep are affected, and one third of individuals experience epilepsy by adulthood. Whether subclinical epilepsy plays a role in the developmental regression of the one third of the toddlers who lose their language skills and become autistic remains to be determined. Clinical neuroimaging and biochemical investigations are generally unremarkable. Fewer than 35 brains have been examined pathologically, none with modern techniques. The findings thus far suggest subtle prenatal neuronal maldevelopment in the cerebellum and certain limbic structures. Abnormalities in distributed networks involving serotonin and perhaps other neurotransmitters require further documentation.

Autistic Disorder↗
PubMed1998

The clinical course of Canavan disease.

Canavan, an autosomal-recessive neurodegenerative disease, is caused by a deficiency of aspartoacylase. Most children are reported to have the infantile form, becoming symptomatic between 3 and 6 months of age, after an unremarkable prenatal and perinatal course. Congenital and juvenile onset forms, although uncommon, do occur. We collected clinical information from the parents of 60 children diagnosed with Canavan disease and reviewed the literature. We conclude that Canavan disease is prenatal in onset with variability in progression. The variable clinical course cannot be explained by genetic heterogeneity but probably depends on environmental factors and/or modifying genes.

Canavan Disease↗
PubMed1998

Understanding childhood language disorders.

Developmental language disorders exist in 5% to 10% of preschoolers and have strong genetic implications. There are several variants of dysphasia: mixed receptive/expressive, expressive, or higher order language processing. Preschool children with pervasive developmental disorders are dysphasic as well as autistic. Some undergo a language and behavioral regression, most often as toddlers. The role of subclinical epilepsy in this regression is unknown because it is often ignored. Most dysphasic children speak by schoolage but are at substantial risk for reading/academic difficulty. Powerful new techniques to image the brain during language have no place in the routine workshop of children with dysphasia with or without autism.

Autistic Disorder↗
PubMed1997

Autism.

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Adult↗
PubMed1997

Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis.

There are several diseases characterized by renal cysts and neurological abnormalities. Joubert syndrome is distinguished by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired psychomotor development, together with abnormal respiratory pattern. We describe a boy with Joubert syndrome associated with multicystic renal dysplasia and hepatic fibrosis. We speculate that the association of malformations of the renal and nervous systems in this syndrome and others are not random. Concomitant malformations of these systems are likely based upon their common developmental and genetic features.

Brain↗
PubMed1997

Language disorders in children with autism.

Language development is delayed in most children on the autistic spectrum. The children are dysphasic as well as autistic. Comprehension and pragmatics are invariably affected. Lower level mixed receptive/expressive disorders involve phonological and syntactical processing, whereas higher level processing disorders involve semantics and formulation of discourse. In some children, lower level disorders may be so severe as to preclude speech, whereas in others phonology may be deficient in spontaneous production but not in repetition. Abnormal features of autistic language include aberrant prosody, immediate and delayed echolalia (scripts), and perseveration. Electrophysiological studies indicate that brainstem-evoked potentials are normal. Even in fully verbal individuals with autism, early and late cortical components of auditory, but not visual, event-related potentials are abnormal. Appropriate intervention must address language and behavioral issues. In children with severely defective auditory language, provision of visual language to supplement speech is essential.

Autistic Disorder↗
PubMed1997

Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates.

BACKGROUND: Approximately one third of the parents of children with pervasive developmental disorders or autistic spectrum disorders reports an early regression of unknown cause in their children's language, sociability, and play. Seizures or an epileptiform electroencephalogram (EEG) are associated with language regression in acquired epileptic aphasia (Landau-Kleffner syndrome) and some other pediatric epileptic syndromes. The importance of epilepsy or epileptic EEGs as contributors to autistic regression is not known. METHOD: Subjects were 482 boys and 103 girls on the autistic spectrum seen consecutively in consultation by one child neurologist. Data on autistic regression, seizures, sleep EEGs, and cognitive function were entered prospectively into a data base. RESULTS: Of the 585 children, 176 (30%) had a history of regression, and 66 children (11%) had a history of epilepsy, defined as two or more unprovoked seizures. Among 392 children with available sleep EEGs, the EEG was epileptiform in 59% of the 66 epileptic children and 8% of the 335 nonepileptic children. Regression had occurred equally among children without seizures and in those with epilepsy. Regression was associated with an epileptiform EEG in 14% of 155 nonepileptic children who had undergone a regression, as opposed to 6% of 364 children with neither regression nor epilepsy. Mean age at regression was 21 months. There was no difference in the proportion of children with epilepsy or epileptiform EEGs who had regressed before or after 2 years of age. Approximately half of the epileptiform discharges were centrotemporal, whether or not the child was epileptic or had regressed. Children with lower cognitive function were more likely to have undergone regression than those with better cognitive skills (34% vs 20%). CONCLUSION: Epilepsy or epileptiform EEGs occur in a significant minority of autistic children with a history of regression and in a smaller minority without regression. Prompt recognition of regression and recording of prolonged sleep EEGs is recommended, even though information on the potential efficacy of antiepileptic treatment to improve language and behavior in autistic children with epilepsy or an epileptiform EEG is still lacking.

Adolescent↗
PubMed1996

Diagnosis and classification in autism.

This study compared four systems for the diagnosis of autism (DSM-III, DSM-III-R, DSM-IV, and ICD-10) with two empirically derived taxa of autism, and with three social subgroups of autism (Aloof, Passive, and Active-but-Odd) in 194 preschool children with salient social impairment. There were significant behavior and IQ differences between autistic and other-PDD groups for all four diagnostic systems, and a significant association was found (a) for Taxon B, diagnoses of autism, and the Aloof subgroup, and (b) for Taxon A, other-PDD, and the Active-but-Odd subgroup. Findings offer support for two major overlapping continua within idiopathic Pervasive Developmental Disorder.

Algorithms↗