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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Previous work demonstrated enlargement of the neocerebellar vermis in Williams' syndrome (WS), despite diminished volumes in the cerebral hemispheres. We present the first in vivo volumetric study of any structure within the cerebellar hemispheres. Using MRI, we identified and reliably measured the neocerebellar tonsils in WS subjects; Down's syndrome (DS) subjects matched for age, IQ, and cerebral volume; and age-matched normal controls. WS tonsils were equal in size to control tonsils and larger than DS tonsils. In proportion to the cerebrum, WS tonsils were larger than controls'. These results coincide with the remarkable neuropsychological preservation of language and affect in WS, despite general cognitive impairment. They contrast with the neocerebellar vermal hypoplasia seen in autism, with its communicative and affective deficits. Additionally, two WS subjects showed Chiari type I malformations, but the average tonsillar position in WS was not found to be different than in controls.
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PMID:Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation. 140 82

Parents of 42 patients with Lesch-Nyhan disease completed a questionnaire systematizing caregiver observations of the subject's behavior during a wide variety of daily events. Responses were grouped in nine categories reflecting different aspects of cognitive skills. Only 1 boy appears to have any significant generalized cognitive impairment. The patients' memory for both recent and past events is excellent, their emotional life has a normal range of reactions and is appropriate; they have good concentration, are capable of abstract reasoning, have good self-awareness, and are highly social. However, they are behind in academic ability, with only 15% at grade level for math and reading. Implications for designing educational activities, parenting or caregiver strategies, and research methodology are discussed.
J Autism Dev Disord 1992 Jun
PMID:Cognitive abilities of patients with Lesch-Nyhan disease. 162 4

The present study extends the area of research on stress in parents of autistic children. In this study we used the Questionnaire on Resources and Stress (Holroyd, 1987) to compare the stress profiles across mothers (a) who lived in different cultural and geographic environments; (b) who had children of different ages; and (c) who had children with different functioning levels. Results showed a characteristic profile that was highly consistent across each of these subgroups. Major differences from the normative data occurred on scales measuring stress associated with dependency and management, cognitive impairment, limits on family opportunity, and life-span care. Results suggest the importance of developing treatment programs aimed at reducing stress in specific areas in families with autistic children.
J Autism Dev Disord 1992 Jun
PMID:Consistent stress profiles in mothers of children with autism. 162 5

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

Two cases of electroconvulsive therapy (ECT) in adolescence are presented and the literature on the use of ECT in childhood and adolescence is reviewed. ECT was effective in children and adolescents with bipolar disorder and depression. Inadequate information exists to make a judgment regarding schizophrenia, delirium, and anorexia nervosa. ECT is not effective in autism and chronic organic brain syndromes. Complications cited include organicity and seizures in the period immediately after ECT, anxiety reactions, and disinhibition. Long-term memory deficit or cognitive impairment has not been found, although further research to rule out residual impairment is needed.
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PMID:A review of ECT for children and adolescents. 222 48

In this review the specific language and communication impairments of autistic individuals are discussed and contrasted with non-specific impairments. All the impairments that are unique to autism concern the use of language for the purpose of intentional (but not instrumental) communication. The specific communication failure can be identified with a limitation in the computing of relevance and as a lack of taking account of mental states. This is a consequence of a subtle, but far-reaching, cognitive dysfunction. The dysfunction is likely to involve the formation and use of second-order representations. The same problem also leads to specific impairment in social relationships and imaginative play.
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PMID:A new look at language and communication in autism. 269 Sep 16

This study assessed the impact of various individual symptoms of autism on mothers and fathers, and professionals' accuracy in estimating parents' perceived stress levels. Mothers and fathers of 20 autistic children, and 20 therapists working with those children, independently rated the severity of common symptoms of autism in their child, and how stressful they found each symptom; therapists estimated parental stress. The autistic child's language and cognitive impairment were judged by all raters as most severe and stressful. In contrast with other studies, individual parents agreed on both symptom severity and degree of stress. Parents of older children judged symptom severity to be lower, but fathers reported a continued high level of stress. Professionals judged families as more stressed by the child symptoms than did families themselves. Implications for intervention and casework are discussed.
J Autism Dev Disord 1987 Dec
PMID:Parent and professional evaluations of family stress associated with characteristics of autism. 368 Jan 56

Early identification and treatment of vision problems is a key element in learning. For preschool children already identified with developmental delay, vision screening and visual correction are particularly essential. Participants drawn from a public Special School District were 105 preschoolers ages 3 to 5 years identified as having developmental delay. Examples included autism, Down syndrome, physical handicap, or cognitive impairment. A partnership was created between the public preschool and the University Schools of Nursing and Optometry to implement vision screening. Teachers/teacher assistants were asked to characterize the children before and after preteaching and after vision screening. Using a semantic differential scale of bipolar descriptors, planned comparisons within a repeated measures MANOVA were statistically significant for all pairs before teaching vs. the mean of after teaching/after screening (p = 0.027) but not statistically significant for after teaching vs. after vision screening (p = 1.000). Results of this preliminary study suggest preteaching could be an important part of a successful vision screening partnership in that 102 (97%) of developmentally delayed children successfully completed screening for vision problems.
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PMID:Preteaching developmentally delayed preschoolers to aid vision screening. 753 98

1. Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protein-binding gene called FMR-1. 2. It is inherited in an atypical X-linked dominant way and affects about 1 in 1000 males and 1 in 2000 females; about 1 in 700 females is a carrier. 3. A characteristic but subtle phenotype includes an elongated face and mandible, large ears, macrocephaly with bizygomatic pinching, soft skin, inconsistent mitral valve prolapse, macroorchidism, mildly shortened stature in adulthood, and characteristic behavior that may resemble autism and attention deficit disorders. Intellectual impairment in affected individuals varies from mild to severe, with a majority of affected males within the moderate range of cognitive disability. Twenty percent of males with the mutation are phenotypically and intellectually unaffected. They ae called transmitting males. 4. Female heterozygotes may be indistinguishable from the general population, or they may have subtle physical signs or both physical and intellectual impairment. 5. Sensory motor integration is the therapy of choice for the learning disabilities in children with fragile X syndrome. The benefits of folic acid supplementation are equivocal. 6. A sensitive and understanding support system for the patient and extended family is an inseparable component of appropriate management of fragile X syndrome. 7. Molecularly the mutation is characterized by varying lengths of DNA fragments consisting of the trinucleotide CGG. It is repeated about 6 to 50 times in the normal population and approximately 51 to 200 times in unaffected individuals with a so-called premuation who are at risk for expansion and transmission to offspring. Individuals with over 200 repeats are usually affected and said to have a full mutation. 8. The physician caring for a family with fragile X syndrome should work with an experienced genetics center, counselor, and a laboratory with expertise.
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PMID:Fragile X syndrome. 799 87

This paper reviews all relevant articles that reported structural neuroimaging or neuropsychological data in adolescent patients with schizophrenia. These papers were subsequently examined from a methodological perspective. Few papers have been written that have examined whether adolescent schizophrenia is associated with structural neuroimaging abnormalities or cognitive dysfunction. In these studies, major methodologic issues exist. Therefore, at present, firm conclusions cannot be made regarding the presence or absence of neuropsychologic dysfunction or structural neuroimaging abnormalities in this population. Attention to certain methodologic issues may improve future studies of this topic.
J Autism Dev Disord 1995 Dec
PMID:Adolescent schizophrenia: a methodologic review of the current neuroimaging and neuropsychologic literature. 872 31


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