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Query: UMLS:C0004352 (autism)
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Developmental language and learning disabilities in children can take many different forms and can result from a variety of causes. Research to date has focused primarily on specific disabilities in learning, which are characterized by a significant delay or disorder in one aspect of learning against a background of otherwise normal development. Learning disabilities affecting language and/or reading acquisition (developmental dysphasia and dyslexia) have been studied most thoroughly. Verbal learning disabilities occur more frequently in boys than in girls, and there is a higher than expected incidence of left-handedness among affected children. Although there are many reasons why a child may have delayed or disordered language development, differential diagnosis of specific developmental language or reading disorders calls for ruling out mental retardation, peripheral auditory or visual dysfunction, autism, frank neurological impairments such as hemiplegia or seizure disorder, and severe social deprivation or lack of educational opportunity. The typical profile of a developmentally dysphasic or dyslexic child is one who shows a marked discrepancy between nonverbal (performance) IQ and verbal IQ, with a history of delayed or disordered speech, language and/or reading development. Such a child usually performs quite normally on visual spatial tasks, while demonstrating severe deficits in tasks of auditory temporal processing, motor sequencing, phonological processing and memory, language, reading and spelling. This characteristic neuropsychological profile may suggest left hemisphere dysfunction or a failure to develop normal cerebral lateralization. The etiology of these developmental learning disorders is unknown, but there is evidence of familial aggregation, indicating a potential genetic basis. Although these children respond to remediation, longitudinal studies have shown that the symptoms often persist into adulthood (see Tallal, 1988, for a more detailed discussion).
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PMID:Hormonal influences in developmental learning disabilities. 196 40

Of 135 autistic and/or mentally retarded youngsters, 30 with pervasive developmental disorders and 2 with nonautistic mental retardation showed school refusal according to its modified definition. School refusal was significantly more frequent in other PDDs than in nonautistic mental retardation. The intellectual level was significantly higher in PDD children with school refusal than those without it. A certain level of mental development and obsessive tendency appear necessary for PDD children to develop school refusal. In order to treat school refusal in PDD, it is important to make school a pleasant place to go and to encourage the child to attend.
J Autism Dev Disord 1991 Mar
PMID:School refusal in pervasive developmental disorders. 203 46

The Aberrant Behavior Checklist (ABC; Aman, Singh, Stewart, & Field, 1985a, 1985b) is a 58-item third-party informant rating scale originally developed for institutionalized, low-functioning adolescents and adults. The present study investigated the appropriateness of the scale for youngsters with dual diagnosis of mental retardation and psychiatric disturbance. Over a period of 2 1/2 years, 204 patients (199 after data reduction) from a child psychiatry unit were rated twice daily by direct care staff. Data analysis addressed internal consistency, interrater reliability, criterion validity, and robustness of the factor structure. Internal consistency was satisfactory with alpha coefficients ranging from .82 to .94. Interrater reliability varied between subscales but was relatively low (Pearson correlations between .39 to .61). In terms of its criterion validity, the ABC was sensitive to psychiatric diagnoses and age and the original 5-factor structure was robust (congruence coefficients ranged between .80 to .89). Yet, only a relatively small proportion of the variance (31.5%) was explained by factor analysis indicating possible limitations of the ABC for this population. Given the paucity of assessment instruments for this particular population and the difficulty involved in developing new population-specific instruments, the ABC can be recommended for children and adolescents with dual diagnosis.
J Autism Dev Disord 1991 Mar
PMID:The Aberrant Behavior Checklist with children and adolescents with dual diagnosis. 203 47

Two behavior genetic research strategies have been utilized to understand gene influences in autism. There is overwhelming evidence for gene involvement, although an exact mode of inheritance has not yet been elucidated. Family and twin studies illustrate that the clinical phenotype of autism is not sufficient to characterize the underlying genotype(s) involved. Exactly what should be included in the phenotype remains elusive. Cognitive and social deficits are indicated as milder variants of the autism phenotype, but precisely how to define these deficits requires further research. Furthermore, more complex models of inheritance (e.g., two-locus models--multifactorial and major gene) may be necessary to explain gene influences in autism. Genetic heterogeneity is indicated in autism, with an X-linked disorder, fragile X, and an autosomal dominant disorder, tuberous sclerosis, together accounting for perhaps 8% to 11% or more of cases of autism. Differences in family patterns (i.e., recurrence risks) of neuropsychiatric disorders between autism with and without mental retardation or other clinically defined groups (e.g., males and females) are suggested. Whether these differences represent genetic heterogeneity or multifactorial inheritance with varying thresholds (e.g., of severity or sex differences) cannot be distinguished on the basis of the data available to date. Autosomal recessive inheritance is suggested in a subgroup of families with autism, but the proportion of all autism that may be accounted for by autosomal recessive inheritance is unknown. Evidence exists that stoppage occurs in families with autism, however, and this can affect accurate estimates of segregation ratios when not taken into account. Future family studies need to report (1) exact ascertainment schemes and specification of probands and (2) sex and birth order of affected siblings, including sibship size, so that data may be pooled and such effects can be tested. Investigations of populations with fragile X or tuberous sclerosis as well as those with autism (without known genetic disorders) will identify the etiologic basis of these associations. Such associations may be due to linkage of genes underlying autism and those underlying the known genetic disorders (i.e., linkage disequilibrium) or shared brain pathophysiology or merely shared overt behaviors. Until such mechanisms are elucidated, we can use only empiric risk figures in genetic counseling situations of autism, assuming that no known genetic or environmental cause is identified. Pooling available data from family and twin studies, the following empiric risks are suggested for genetic counseling purposes. An average sibling risk (frequency of affected siblings among all siblings) based on pooled data is 3% (i.e., 57/1698).(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Genetic influences in autism. 204 27

As a developmental disorder, autism presents as a combination of unusually delayed maturational stages constrained by neuropathology that also produces many atypical behaviors. This process was labeled atypical ontogeny. To understand the development of autistic symptoms, it is necessary to consider each behavior in the context of what is normal for the child's nonverbal mental age and then the extent to which the behavior is delayed or atypical, given factors such as degree of delay, function, and frequency of expression. Many symptoms of autism are not unique to autism, and many reflect at least in part the underlying degree of mental retardation present in a large proportion of autistic individuals. Given this, it is important to rate autistic symptoms in the context of the child's mental development in areas of intelligence not specifically affected by the autism (i.e., nonverbal intelligence) in order to be sure that the symptom is characteristic of autism and not just reflective of the degree of mental retardation. In order to do this, the clinician must have a good understanding of the normal milestones in development in each of the areas in which autistic children develop symptoms. Developmental examples of both normal and atypical milestones, as well as a reliable indicator of nonverbal level of development, would help a user of the DSM-IV criteria for autistic disorder make more accurate decisions in reaching a diagnosis. The DSM-III-R criteria for autistic disorder have many other problems, such as lack of certain kinds of reliability and validity, poor specificity, and redundancy. Discussion of these problems is beyond the scope of this article but is presented elsewhere. What have been presented here are recommendations for revising DSM-III-R diagnostic criteria for autistic disorder insofar as there are implications for putting developmental psychopathology into a developmental context.
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PMID:Toward DSM-IV: a developmental approach to autistic disorder. 204 32

From a population-based series of children with Infantile Hydrocephalus (IH) 69 patients (mean age 11.7 years) were examined with respect to the occurrence of autistic symptoms. Autistic symptomatology was evaluated according to a modified short Swedish version of the so-called Autism Behavior Checklist. Sixteen of the 69 IH children (23%) reached a score which was considered indicative of autistic symptoms (AS) in the child. This group was compared with the remaining 53 IH children without autistic symptoms (non AS). Significant differences were found between these two groups with respect to aetiological and clinical data. In the AS group 44% were born preterm as compared to 9% in the non AS group. CT scan showed major abnormalities in 64% of the AS children while this was present in 28% in the non AS group. The occurrence of major neuroimpairments--epilepsy, mental retardation and cerebral palsy--was 50%, 88% and 50% in the AS group as compared to 9%, 23% and 19% respectively in the non AS group. It was concluded that the more severe the brain damage in children with IH the more likely that autistic symptomatology would ensue. This implies that specific neuropsychiatric services to these families are required.
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PMID:Autistic symptoms in children with infantile hydrocephalus. 205 95

This study assessed the impact of choice making on the serious problem behaviors of 3 students with severe autism and/or mental retardation. In the context of within-subject reversal designs, the results showed consistently reduced levels of problem behaviors (e.g., aggression) when the students were given opportunities to make choices among instructional tasks and reinforcers. Additional data showed no systematic differences in the rate of correct responding between the two conditions. The results are discussed in relation to the continuing search for effective, nonintrusive solutions to the occurrence of serious problem behavior.
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PMID:Effects of choice making on the serious problem behaviors of students with severe handicaps. 207 40

Fra (X) or Martin-Bell syndrome is the most common X-linked mental retardation with an incidence of 1/1000-2000 newborns. Chromatid break, double chromatid break or total loss of distal part of X chromosome (which occurs most often inside the C positive band q 27.3) is demonstrated in most male hemizygotes as mental retardation and specific phenotypic features. Fra (X) syndrome is proved in the cultured lymphocytes or fibroblasts with special cytogenetic methods. The prenatal diagnosis is possible by examining of amniotic fluid or the lymphocytes from the umbilical cord. We report two families with fra (X) syndrome. In the first one, 6 year- and 9-month-old boy with mental retardation and characteristic phenotypic features has been recognized as the carrier of fra (X) syndrome and after that his 4-year-old brother with similar symptoms. In the second family, there is a severe mentally retarded 3-year-old boy with fra (X) syndrome who besides typical phenotipic changes also exhibits symptoms of autism. The percentage of the cells with fra (X) chromosome in our patients (30%, 28%, 18%) is not correlated with the degree of their mental retardation. The mothers of our patients are the heterozygous carriers of the syndrome (3% and 1.5% fra (X) chromosome).
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PMID:[The fragile X (Martin-Bell) syndrome]. 209 75

Based on recent studies of neuroimmune networks, the lymphocyte binding of serotonin neurotransmitter was studied in patients with Alzheimer's disease, idiopathic mental retardation, and autism. The specific binding to lymphocytes of [3H]serotonin, at a single concentration of 100 nM, was significantly reduced in Alzheimer's disease patients as compared to aged controls (group mean of 3.667 +/- 2.301 v 7.506 +/- 1.717 picomoles; p = 0.001), and in children with idiopathic mental retardation as compared to healthy children (group mean of 3.694 +/- 1.627 v 5.792 +/- 1.902 picomoles; p = 0.003). However, autistic children did not differ significantly from the healthy children (group mean of 5.287 +/- 1.987 v 5.792 +/- 1.902 picomoles; p = 0.475). Reduced lymphocyte binding of serotonin may be an indication of breakdown of an unknown neuroimmune pathway relevant to the pathophysiology of Alzheimer's disease and idiopathic mental retardation.
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PMID:Binding of [3H]serotonin to lymphocytes in patients with neuropsychiatric disorders. 209 81

The prevalence, causal origin of and impairments associated with severe mental retardation (SMR) were investigated among all school-age children (six to 13 years) living in the city of Bologna, Italy. 90 children (57 boys, 33 girls) with IQs less than or equal to 50 were identified. The prevalence of SMR was 4.2 per 1000 for males, 2.5 per 1000 for females and 3.4 per 1000 for both sexes. Causal origin was prenatal for 33.3 per cent, perinatal for 14.4 per cent, combined pre- and perinatal for 5.6 per cent and postnatal for 13.3 per cent. Another 12.3 per cent of the children with IQs less than or equal to 50 had autism or childhood psychosis, while there was no evident cause of mental retardation for the remaining 21.1 per cent. 50 per cent had at least one associated physical or neurological impairment other than mental retardation, with epilepsy and cerebral palsy predominating.
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PMID:An epidemiological study on severe mental retardation among schoolchildren in Bologna, Italy. 225 87


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