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Biomedical subjects

I Rapin

Publications and source records attributed to I Rapin.

At least 55 records · Page 3Linked to original sources
PubMed1996

Longitudinal examination of the behavioral, language, and social changes in a population of adolescents and young adults with autistic disorder.

This follow-up study evaluates the behavioral, language, and social outcomes in a population of autistic patients initially examined in childhood. We evaluated 102 (63%) of the 163 eligible subjects, including 54 adolescents (12-17 years of age) and 45 adults (> or = 18 years of age). Three patients had died in the interim. Behavior difficulties continued to be a problem in 69% of adolescents and adults. Thirty-five percent of adolescents and 49% of adults engaged in self-injurious behavior, and slightly more than 50% of adolescents and adults exhibited some stereotypic behaviors. Over 90% of both adolescents and adults had persisting social deficits. Language improved with age, although only 35% achieved normal or near-normal fluency. Comprehension also improved, although only 29% of subjects had achieved normal or near-normal comprehension of oral language. At the time of last follow-up, 28% of all patients and 53% of adults were living in residential placement. Only 11% of adults were employed on the open market, all in menial jobs; an additional 16% were employed in sheltered workshops. The social, behavioral, and language deficits identified in early life in autistic children tend to persist into adolescence and young adulthood.

Adolescent↗
PubMed1996

DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells.

Xeroderma pigmentosum (XP)/Cockayne syndrome (CS) complex is a combination of clinical features of two rare genetic disorders in one individual. A sun-sensitive boy (XP20BE) who had severe symptoms of CS, with dwarfism, microcephaly, retinal degeneration, and mental impairment, had XP-type pigmentation and died at 6 y with marked cachexia (weight 14.5 lb) without skin cancers. We evaluated his cultured cells for characteristic CS or XP DNA-repair abnormalities. The level of ultraviolet (UV)-induced unscheduled DNA synthesis was less than 5% of normal, characteristic of the excision-repair defect of XP. Cell fusion studies indicated that his cells were in XP complementation group G. His cells were hypersensitive to killing by UV, and their post-UV recovery of RNA synthesis was abnormally low, features of both CS and XP. Post-UV survival of plasmid pSP189 in his cells was markedly reduced, and post-UV plasmid mutation frequency was higher than with normal cells, as in both CS and XP. Sequence analysis of the mutated plasmid marker gene showed normal frequency of plasmids with multiple base substitutions, as in CS, and an abnormally increased frequency of G:C-->A:T mutations, a feature of XP. Transfection of UV-treated pRSVcat with or without photoreactivation revealed that his cells, like XP cells, could not repair either cyclobutane pyrimidine dimers or non-dimer photoproducts. These results indicate that the DNA-repair features of the XP20BE (XP-G/CS) cells are phenotypically more like XP cells than CS cells, whereas clinically the CS phenotype is more prominent than XP.

Cell Survival↗
PubMed1996

Practitioner review: developmental language disorders: a clinical update.

Non-specialists can identify three types of developmental language disorder. (1) mixed receptive/expressive disorders, which impair phonology, syntax, and semantics. Children who understand nothing are nonverbal, in others speech is sparse, nonfluent, poorly intelligible, and agrammatic; (2) expressive disorders with adequate comprehension affect phonologic production predominantly. Children with verbal dyspraxia, the most severe variant, may also be nonverbal but comprehend well; (3) higher order processing disorders affect semantics, pragmatics, and discourse. Semantics and pragmatics are invariably affected in preschool autistic children in whom isolated expressive deficits do not occur. Etiology of developmental language disorders is predominantly genetic. Structural brain lesions detectable by neuroimaging are exceptional. Severe receptive deficits require a sleep EEG to detect subclinical epilepsy. Early educational intervention is both critical and efficacious.

Autistic Disorder↗
PubMed1995

Electrophysiologic manifestations of impaired temporal lobe auditory processing in verbal auditory agnosia.

The present study examined the extent to which verbal auditory agnosia (VAA) is primarily a phonemic decoding disorder, as contrasted to a more global defect in acoustic processing. Subjects were six young adults who presented with VAA in childhood and who, at the time of testing, showed varying degrees of residual auditory discrimination impairment. They were compared to a group of young adults with normal language development matched for age and gender. Cortical event-related potentials (ERPs) were recorded to tones and to consonant-vowel stimuli presented in an "oddball" discrimination paradigm. In addition to cortical ERPs, auditory brainstem responses (ABRs) and middle latency responses (MLRs) were recorded. Cognitive and language assessments were obtained for the VAA subjects. ABRs and MLRs were normal. In comparison with the control group, the cortical ERPs of the VAA subjects showed a delay in the N1 component recorded over lateral temporal cortex both to tones and to speech sounds, despite an N1 of normal latency overlying the frontocentral region of the scalp. These electrophysiologic findings indicate a slowing of processing of both speech and nonspeech auditory stimuli and suggest that the locus of this abnormality is within the secondary auditory cortex in the lateral surface of the temporal lobes.

Adolescent↗
PubMed1995

Autistic regression and disintegrative disorder: how important the role of epilepsy?

At least a third of autistic toddlers regress in language, sociability, play, and often cognition. Many fewer children undergo a similar, unexplained regression after language is fully developed (disintegrative disorder [DD]). Epilepsy or a paroxysmal electroencephalogram (EEG) with/without clinical seizures, including electrical status epilepticus in slow wave sleep (ESES), may be associated, in occasional children, with either selective loss of language (Landau-Kleffner syndrome [LKS]) or with pervasive autistic regression. Fluctuation in language and behavior deficits should raise the suspicion of epilepsy. Review of the literature and of the author's experience suggests that epilepsy probably plays a relatively minor, although non-negligible, pathogenetic role in autistic regression. Multidisciplinary, possibly multi-institutional, longitudinal studies that encompass the regression are needed to sharpen diagnostic criteria to devise more effective therapies.

Autistic Disorder↗
PubMed1994

Non-Mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing loss.

Awareness of non-Mendelian mitochondrial inheritance and of its role as an agent of genetic sensorineural hearing loss (SNHL) is recent. Mitochondria are passed on exclusively from the ovum to all the offspring of both sexes, a novel pattern of inheritance. Owing to the critical role of mitochondria in cellular energy metabolism, deletions or point mutations of the mitochondrial DNA often cause progressive SNHL and a variety of disorders in other organ systems (mitochondrial cytopathies). The clinical expression of mitochondrial diseases varies and depends on the proportion of mutated mitochondria in various body tissues, as well as the nature of the mutation or deletion. In order to determine how often SNHL occurs in mitochondrial diseases and what is its presenting symptom, and also whether SNHL is a marker for particular phenotypes, we carried out a review of published case reports of patients with an established diagnosis of mitochondrial disease. The review indicates that SNHL occurs at all ages and in virtually all variants of mitochondrial diseases. It is not clear whether SNHL is a marker for a more severe and more rapid course of disease; the lower prevalence of SNHL in descriptions of live patients than of those who had died may be an artifact of case selection reported in the literature. Mitochondrial disease needs to be considered in progressive hearing loss and better longitudinal audiometric study of established cases will be required to answer these questions.

Age of Onset↗
PubMed1993

Hearing disorders.

Explore the source record for details and available documents.

Acoustic Impedance Tests↗
PubMed1992

Fluent aphasia in children: definition and natural history.

We compared the course of a preschool child we followed for 4 years with published reports of 24 children with fluent aphasia. Our patient spoke fluently within 3 weeks of the injury. She was severely anomic and made many semantic paraphasic errors. Unlike other children with fluent aphasia, her prosody of speech was impaired initially, and her spontaneous language was dominated by stock phrases. Residual deficits include chronic impairment of auditory comprehension, repetition, and word retrieval. She has more disfluencies in spontaneous speech 4 years after her head injury than acutely. School achievement in reading and mathematics remains below age level. Attention to the timing of recovery of fluent speech and to the characteristics of receptive and expressive language over time will permit more accurate description of fluent aphasia in childhood.

Achievement↗
PubMed1991

Hearing-impaired autistic children.

The charts of 46 children diagnosed as deaf and autistic were reviewed. Nearly one-fifth had normal or near-normal non-verbal intelligence and only one-fifth had severe mental deficiency. The severity of the autistic behavior was related to the severity of the mental deficiency, but not to that of the hearing loss. In 11 of the 46 children, autism went unrecognized for over four years after the diagnosis of hearing loss, and in 10 the hearing loss went unrecognized for several years after the diagnosis of autism. The educational experience of some children was generally disastrous because of the frequently late and incorrect diagnoses and the lack of specialized facilities for hearing-impaired autistic children.

Adolescent↗
PubMed1991

Autistic children: diagnosis and clinical features.

Autism is one of the behaviorally defined developmental disorders of brain function. It has a variety of genetic and nongenetic etiologies, with etiology being unknown in the majority of children. Boys are more frequently affected than girls. Manifest in the preschool years, autism always affects sociability, communication, and the child's repertoire of activities and interests. Autism encompasses children with a broad range of severities and a variety of other signs of brain dysfunction. These include motor signs, notably stereotypies; abnormal responses to a variety of sensory stimuli; and disorders of affect and attention. A significant proportion of autistic children experience epileptic seizures and have abnormal EEGs. Neuroimaging, preferably magnetic resonance imaging, discloses abnormalities of brain development in a minority of autistic persons. The level of intelligence may range from profound mental deficiency to giftedness. The pattern of cognitive skills is likely to be uneven, typically with better nonverbal than verbal skills. In the preschool years, all autistic children have a developmental language disorder. Verbal expression may range from total lack of language to verbosity with echolalia; comprehension and language use are invariably impaired. While there is no specific pharmacologic agent to mitigate the fundamental disorder, children may benefit from drugs to treat specific symptoms such as attention disorder and seizures. Although autistic behaviors are the consequence of a static disorder of brain function, their character changes with maturation and appropriate intervention. Communication skills and sociability remain deficient but improve in all but the most severely affected children. Outcome is a function of both innate cognitive competence and the effectiveness of early intervention focused on the development of appropriate social skills and meaningful communication. Intelligent autistic adults may be educable, employable, and able to live independently, while more severely handicapped ones require a lifelong protected environment.

Autistic Disorder↗
PubMed1991

Autistic and dysphasic children. I: Clinical characteristics.

Autism and dysphasia are behaviorally defined disorders of higher cerebral function which in preschool children share the common core symptom of impairment of language. In this study we describe the clinical characteristics of 314 autistic and 237 dysphasic nonautistic children evaluated by one child neurologist. There was no significant difference between autistic and dysphasic children in gestational age, birth weight, or prevalence of associated medical disorders, all of which were infrequent, although a positive history of resuscitation or ventilatory support was more common in dysphasic than autistic children (P = .03). As a group autistic children are more likely than dysphasic children to have language subtypes affecting central processing and formulation, a family history of psychiatric disorders and autism, and a history of regression of language and behavior. After excluding 12 girls with autistic symptoms who met the clinical criteria for Rett syndrome, we found that there was no significant difference in the number of autistic and dysphasic children with an abnormal sensorimotor examination. Girls with autism were more likely than boys to have severe mental deficiency (38% of autistic girls vs 23% of boys) (P = 0.012) and a motor deficit (27% vs 11%) (P = .0009).

Aphasia↗
PubMed1991

Autistic and dysphasic children. II: Epilepsy.

In a previously described population of 314 autistic and 237 dysphasic nonautistic children, after exclusion of 12 autistic girls with Rett syndrome, 14% (42 of 302) of autistic children and 8% (19 of 237) of dysphasic children had epilepsy (P = .03). The major risk factors for epilepsy were severe mental deficiency and the combination of severe mental deficiency with a motor deficit. In autistic children without severe mental deficiency, motor deficit, associated perinatal or medical disorder, or a positive family history of epilepsy, epilepsy occurred in 6% (10 of 160) which was analogous to the 8% (14 of 168) found in similar dysphasic nonautistic children. The language subtype of verbal auditory agnosia is associated with the highest risk of epilepsy in autistic (41%, 7 of 17) and dysphasic (58%, 7 of 12) children. The higher percentage of epilepsy in autistic girls, 24% (18 of 74) compared with boys 11% (25 of 228) (P = .003), is attributed to the increased prevalence of cognitive and motor deficit in girls. Once the risk attributable to associated cognitive and motor disabilities is taken into account, there is no difference in the risk of epilepsy between autistic and nonautistic dysphasic children.

Aphasia↗