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Query: UMLS:C0004352 (autism)
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Two cases of fragile X-syndrome are presented. Both boys had a family history of learning disability. This syndrome is the most common cause of inherited mental retardation. There are few dysmorphic features in childhood, but in puberty 80% of persons with this syndrome develop macro-orchidism, as presented in our second case. Some of the cases may have large ears, with no folding pinnea (simple pinnae). They may also have long faces, and a prominent forehead and chin. A characteristic of the condition is behavioural dysfunction, including hyperactivity and autism. The author discusses difficulties diagnosing the condition, both clinically and by specialized chromosome analysis.
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PMID:[Fragile X-syndrome and mental retardation]. 155 20

Three cases of fragile X (fra X) have been identified in a systematic survey of 30 boys, aged 3 to 14, with infantile autism or psychotic disorders, associated with mental retardation. Only one of these children exhibited a dysmorphy characterizing the Martin-Bell syndrome. Two fra X cases fulfilled the DSM III criteria for autism; none corresponded to the Kanner's description of infantile autism. The prevalence of fra X among children with psychotic disorders (6%) is much higher than in the general population; however it is close to the prevalence observed in non psychotic mentally retarded patients. Given the inconsistency of the somatic phenotype, the screening should benefit from the recent discovery of abnormal methylation of DNA.
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PMID:[Fragile X chromosome in autism and psychotic disorders in children]. 158 Jul 45

Perceptions by staff of the classes of reinforcers and aberrant behaviors of a sample of 470 people with predominantly severe or profound mental retardation were explored. Principal components analysis of a 45-item survey suggested eight classes of reinforcers: consumable, verbal-speaker, visual-motor, social, physical-contact, passive-observer, play, and academic reinforcers. Stepwise multiple regression was used to predict five classes of maladaptive behaviors as measured by the Aberrant Behavior Checklist (irritability, lethargy, stereotypy, hyperactivity, and inappropriate speech) from the eight classes of reinforcers. Each class of psychopathology was related to a unique set of predictors. All classes of psychopathology could be predicted by staff perceptions of underresponsiveness to social reinforcers and overresponsiveness to consumable reinforcers. The findings of organized structures of reinforcers and their covariation with pathological behaviors have implications for research and intervention as well as theoretical value in defining aberrant behaviors in people with mental retardation.
J Autism Dev Disord 1992 Mar
PMID:Staff perceptions of reinforcer responsiveness and aberrant behaviors in people with mental retardation. 159 66

In addition to mental retardation (MR), fragile X [fra(X)] has been associated with other developmental disabilities, autism in particular. Recently, several studies have concluded that the association of fra(X) with autism is at best weak and perhaps nonexistent. This study examined reports of previously published data from an epidemiological perspective to determine if the prevalence of fra(X) among autistic males was significantly different from that among MR males. Nineteen studies of autistic males and 21 studies of MR males were analyzed from 59 examined. Of 5601 MR males tested, 307 (5.5%) were cytogenetically positive. Of 1006 autistic males, 54 (5.4%) were positive. Analysis indicated no statistical difference between these proportions (Z = 0.014; p greater than .50). An odds ratio (OR) was also computed to determine the risk of autism from fra(X). Estimated OR approximately 1.0 [0.73, 1.32]. Attributable risk (AR), the proportionate excess risk of autism associated with exposure to fra(X) was AR approximately 0.0. That is, there was no attributable risk of autism from fra(X). The association of fra(X) with autism may reflect the association with MR that generally accompanies autism, as several earlier reports have noted. However, the similarity in prevalence of fra(X) among autistic and MR males may be biased in the studies which find no instances of fra(X) among autistic males represent 12% of the pooled sample.
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PMID:Is autism associated with the fragile X syndrome? 160 28

The Holroyd (1974) Questionnaire on Resources and Stress (QRS) although clinically useful may be too inclusive and not exclusively relevant to severely dysfunctional individuals. Hitherto, efforts at shortening and psychometrically validating the QRS have met with some success: the shorter forms however still target both mentally and physically handicapped children and are clinically not as useful as the original instrument. The 78-item Clarke modification of the QRS, mainly a subset of the original, was an attempt to remedy these problems. It was validated with mothers and fathers of autistic, mentally retarded, learning-disabled, and asymptomatic children. Good internal consistency, split-half reliability, and coefficient of stability were obtained. Construct and concurrent validities were also acceptable. The questionnaire discriminated best between the two more severely affected groups and the controls. Group differences were found for 8 of its 9 scales and sex of parent differences were found for 3. The Clarke modification of the QRS is recommended for clinical use with parents of children with autism and mental retardation.
J Autism Dev Disord 1992 Jun
PMID:Assessing resources and stress in parents of severely dysfunctional children through the Clarke modification of Holroyd's Questionnaire on Resources and Stress. 162 6

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.
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PMID:Autistic children: diagnosis and clinical features. 170 91

The fragile X syndrome, a common X-linked form of mental retardation and autism, affects females as well as males. Previous work has shown that approximately 35% of heterozygotes (women who carry the fragile X gene) demonstrate cognitive impairment. Thirty-two girls, 18 years or younger, who demonstrate the fragile X chromosome were evaluated and compared with 19 sisters who do not demonstrate the fragile X chromosome. Evaluations included a physical examination, behavioral assessment, and intelligence testing. Significant differences (in intellectual, behavioral, and physical features) were seen between the two groups. Twenty-five percent of fragile X-positive girls had an IQ in the mentally retarded range (IQ less than 70) and 28% had an IQ in the borderline range (70 to 84). Prominent ears, shyness, and poor eye contact were significant findings in fragile X-positive girls compared with fragile X-negative girls. Thirty-one percent of the fragile X-positive girls had significant attentional difficulties and most of these girls were successfully treated with stimulant medication. The majority of fragile X-positive girls in this study demonstrated significant behavioral and developmental problems which required identification and appropriate treatment. Pediatricians and health care providers should be aware of the frequency and manner with which fragile X affects females in order to initiate cytogenetic studies and treatment when indicated.
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PMID:Girls with fragile X syndrome: physical and neurocognitive status and outcome. 174 Dec 10

The probands of this study were 60 children and young adults between 5 and 20 years of age, 20 of whom had siblings with autism, 20 of whom had siblings with mental retardation, and 20 of whom had siblings who were free of handicap. The three proband groups were matched for gender, birth order and socioeconomic status. The children were questioned about their sibling relationships and about particular problems they faced concerning their handicapped brothers or sisters and about problems concerning themselves. Parents were interviewed about the healthy child's behaviour and social adjustment. Mothers completed the Eysenck Personality Inventory concerning themselves. Siblings of handicapped children and especially siblings of children with autism were more concerned about the future. They also felt lonely more often and many of them had peer problems. They often regarded their handicapped siblings as a burden. They tended to have only one sibling. Siblings often did not know why their handicapped brother or sister was different from other children. There were more behaviour disturbances in the siblings of handicapped children and mothers with a child with autism reported more 'stressful events'. There were no differences as regards the personality of the mothers and the self-concept of the children between the three groups.
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PMID:Psychosocial effects on siblings of children with autism and mental retardation: a population-based study. 175 79

During the past two decades psychopharmacologists have made considerable strides in establishing the safety and efficacy of psychotropic drug therapy for childhood behavior disorders. Most of the research has focused on children with disruptive behavior disorders, autism, or mental retardation, but more recently other disorders such as depression, obsessive compulsive disorder, separation anxiety (school refusal), and Tourette syndrome are also receiving attention. Psychopharmacotherapy has often been a matter of controversy, with most issues pertaining to either the appropriateness of medication (e.g., rationales for treatment, alternative interventions, toxicity, iatrogenic effects) or inadequacies of clinical management (e.g., availability of services, drug assessment procedures, limitations of research). This article presents a brief overview of the safety and efficacy of psychotropic drugs and the issues associated with their use in clinical settings.
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PMID:Clinical issues in child and adolescent psychopharmacology. 177 69

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.
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PMID:Hearing-impaired autistic children. 177 43


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