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Biomedical subjects

I Rapin

Publications and source records attributed to I Rapin.

At least 19 recordsLinked to original sources
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↗
PubMed1988

Disorders of higher cerebral function in preschool children. 1.

In preschoolers, disorders of higher cerebral function are most likely to present as inadequate development of language, while in school-age children, learning disabilities and attention deficit predominate. The main considerations in the differential diagnosis in preschoolers with inadequate language are hearing loss, mental deficiency, dysphasia, and autistic spectrum disorders. Attention to the child's ability to engage in symbolic play and communicate meaningfully is the key to this often baffling differential diagnosis. With the exception of definitive assessment of hearing, classic medical investigations are seldom informative because structural brain lesions and metabolic errors are much rarer etiologies than prenatal and genetic influences on brain development. While many children improve with age, the underlying deficit(s) usually persists. The role of the physician is to detect the developmental problem, give the parents a correct diagnosis, refer the child for appropriate investigation and intervention, and provide follow-up and counseling. Early diagnosis is essential for effective remediation.

Attention Deficit Disorder with Hyperactivity↗
PubMed1988

Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities.

Our 86 cases of neuronal ceroid-lipofuscinosis (NCL) included 7 children with the infantile variant, 28 with the late infantile variant, and 51 with the juvenile variant. Thirty-one cases were drawn from a NCL registry and were not evaluated personally by the authors. Another 30 cases from the registry were not included because of inadequate data. The clinical course was subacute in most children with the infantile and late infantile variants and chronic in the juvenile variant. Sixteen of 86 cases (19%) were considered to be atypical clinically [3/7 (43%) with the infantile variant, 3/28 (11%) with the late infantile variant, and 10/51 (20%) with the juvenile variant]. Clinical variability among and between families was most striking in the juvenile variant. Pathological investigations of skin, buffy coat and/or brain showed atypical and/or more than one type of cytoplasmic inclusions in 10/50 (20%) of late infantile and juvenile variants. All of the children with the infantile variant had granular, osmiophilic profile in tissues. Biochemical studies on the glycoproteins of cultured fibroblasts in three cases of juvenile NCL showed that there was a higher proportion of one size class of N-linked oligosaccharides and a higher proportion of mannose-containing glycoproteins in NCL than in control cells. This supports previous lectin histochemical studies of glycoconjugates in skin of juvenile NCL [Wisniewski and Szumanska, 1986] and suggests that there may be defects in the processing of N-linked oligosaccharides in the glycoproteins of juvenile NCL.

Adolescent↗
PubMed1988

Children with inadequate language development: management guidelines for otolaryngologists.

Otolaryngologists are in the front line of physicians asked to evaluate children whose language development is lagging. The 4 most prevalent conditions to consider in the differential diagnosis are impaired hearing, mental deficiency, developmental language disorder or dysphasia, and one of the disorders on the autistic spectrum. Guidelines on when to become concerned and what to do about such children are provided. Early diagnosis is essential in order to provide remedial education at the language learning age when intervention is likely to be most efficacious.

Autistic Disorder↗
PubMed1988

Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family.

There are several clinically distinct forms of neuronal ceroid lipofuscinosis whose presentation and pathology are usually homogeneous within families. Several atypical variants have also been reported. We have studied an inbred sibship in which neuronal ceroid lipofuscinosis appeared to present in two completely different ways. In the proband, the course was compatible with a somewhat atypical juvenile variant. Ataxia and spasticity started at 4.5 years, followed by blindness with optic atrophy, intractable seizures, dementia, and death at 14 years. Atypical features included areflexia, hypotonia, and ataxia. Electron microscopic studies of her skin and her rectal ganglion cells showed lucent, dense, and fingerprint inclusions that were also found in the central nervous system at autopsy. Her brother and sister developed difficulty walking at ages 8.5 and 10.5 years and are alive at 24 and 18 years. They presented with slowly progressive spinocerebellar degeneration with sensorimotor neuropathy without dementia, seizures, or visual impairment. Lysosomal enzymes and lipoprotein analysis were normal in all three siblings and their parents. Elevated dolichol in the urine and lucent, dense, and fingerprint inclusions in skin, cutaneous nerve, buffy coat lymphocytes in both siblings and in the sural nerve of the brother suggest that their disease may represent a novel phenotype of neuronal ceroid lipofuscinosis. While it is possible that two different recessive genes may be segregating in this consanguineous family, we cannot dismiss the possibility that variability of gene expression may account for the divergent phenotypes.

Adolescent↗
PubMed1988

Recruiting parents of children with a fatal disease as co-investigators.

Information about Rett syndrome should be imparted to parents of newly diagnosed children by a physician who is familiar with the disease and the care of affected children. Symptomatic treatment should be discussed and a follow-up schedule planned. Parents should be referred to a support group for parents of similarly afflicted children and should be informed about current research efforts. The contribution to knowledge about Rett syndrome that can be made by allowing postmortem examination of the child should be emphasized; parents can thereby be enlisted as co-investigators into this poorly understood disease.

Adaptation, Psychological↗