摘要:

ABSTRACT.Microcephaly is a clinical sign rather than a nosological entity. It may even represent the extreme of normal variation. In pathological cases, it is always caused by an interruption of the neurobiologic processes of induction and cellular migration, or by a catastrophic insult to the central nervous system. The prime cause of this may be environmental or genetic. There is strong evidence for genetic heterogeneity, even among cases of ‘true’ or ‘primary’ microcephaly. Various taxonomies for the classification of microcephaly are discussed, taking into account environmental causation and various genetic mec

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1987.tb01365.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

ABSTRACT.The question is raised whether arteriosclerosis (AS) may be induced in man by chronic central nervous system injury. In an institutionalized population of mentally retarded children, more AS than expected was observed. Of 1173 residents with detailed clinical and autopsy records over 40 years, 78 of them, aged 1–21 years, showed mild to moderate coronary or aorta AS. Thirty control subjects without AS, matched for sex, age and IQ, were studied in comparison. In 65 of the probands, the condition could not be explained by predisposing diseases or known risk factors. There were more lesions in those with convulsive disorder; this was felt to reflect arterial changes due to neuronal‐sympathoadrenal hyperactivity. In addition, more disease occurred in physically restricted patients; this appeared related to the stress of handicap and inability to respond to psychosocial needs. It is concluded that certain areas of brain defect predispose to atherogenesis. Down's syndrome provides a different set of influences on AS, yet the frequency of AS in these patients was similar to that of non‐D

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1987.tb01366.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

ABSTRACT.Previous cross–sectional studies of Down's syndrome have suggested thatdeficits in cognitive and neurological functioning after the age of 35 years are symptomatic of Alzheimer's disease. It has been claimed that this pattern corresponds to post‐mortem neuropathological findings of Alzheimer's disease in all Down's syndrome patients who die aged over 35 years. In the present study of Down's syndrome patients aged between 19 and 49 years, results showed that, for those over 35 years, intellectual deterioration had occurred in less than a third. No relationship was found between chronological age and the level of self care skills or the presence of disturbed behaviour. Results are discussed in terms of the interpretation of the existing neuropathological literature, the methodology of future studies and clinicaldecisions regarding hospitalized patients with Down's syndr

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1987.tb01367.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

ABSTRACT.Thirty‐six de Lange patients aged 5–47 years with a median age of 16 years were tested by the Vineland Social Maturity Scale. Significant physical handicaps affecting the scoring were found in six patients. The social quotients varied from 2.2–99.5. Eighty‐one per cent of the patients scored less than 52. Specific retardation was found in verbal communication. Other cognitive skills also showed low scoring, while the patients showed relatively high scores in self‐help items. Fifteen patients lived in large institutions for the mentally retarded, three patients lived in hostels or boarding‐schools, and one patient lived in her own home. Only two patients, both severely retarded, did not attend any regular daily activity. It is concluded that de Lange patients will not be able to live without support in the community, that they are particularly retarded in verbal communication but that they function relatively well in everyday self

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1987.tb01368.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

ABSTRACT.Markers of monoamine metabolism in lumbar cerebrospinal fluid (CSF) andplasma were determined in nine young, healthy adults with trisomy 21 Down'ssyndrome (DS), 21–34‐years‐old, and in three DS subjects over 45 years, twoof whom were demented, as well as in two groups of age‐matched controls. Test scores of general intelligence, visuospatial ability, visual discrimination and verbal intelligence were reduced significantly in the old as compared to the young DS subjects. Dementia in DS was evident from a history of mental deterioration, disorientation and hallucinations. In the young DS adults, as compared to the controls, CSF 5‐HIAA and norepinephrine were significantly elevated but plasma levels were unchanged. HVA, MHPG and biopterin did not differ between the DS groups and age‐matched controls, or with relation to age in the DS or control subjects. These results suggest an increased turnover of monoamines in young adults with DS but that alterations in monoamine metabolism are unrelated to the cognitive decline wit

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1987.tb01369.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

ABSTRACT.Maternal agreement with the Down's syndrome stereotype (as outlined in the literature) was investigated as a function of direct experience of the condition. Using an adjective checklist devised for this project, mothers of children aged between 3 and 9 years were asked to describe Down's children. Statistical analysis of the data collected revealed that familiarity with the condition resulted in a broader general stereotype (represented by the number of adjectives endorsed). Specifically, mothers of Down's Syndrome children attributed more personality traits to the Down's child than mothers without direct experience of the condition. Mothers of such children also claimed a wider range of personality characteristics for their own child than for Down's children in general. Implications for future research were discussed, as was the value of ‘normalization’ and increased contact with normal peers in the education and integration into the community of Down's child

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1987.tb01370.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

ABSTRACT.This study illustrates the use of a computer‐assisted linguistic analysis technique to compare the spoken language of an adolescent, diagnosed in childhood as autistic, with that of normal and schizophrenic individuals. A distinctive profile, in keeping with accounts in the literature of autistic speech, was noted to be radically different from that found in linguistic analysis of schizophrenic speech. This distinctive profile was mirrored by her written linguistic analysis. Changes indicative of some improvement in language function were seen on re‐recording after 5 years. Implications of this technique for differential diagnosis of Aspberger's syndrome and atypical psychoses are mentio

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1987.tb01371.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

ABSTRACT.A 4‐year‐and‐10‐month‐old girl was referred to the Child Development Center, Rhode Island Hospital, Providence, Rhode Island, USA, for evaluation because of mental retardation. She was found to have short stature, congenital heart disease and dysmorphic facial features. A chromosome analysis revealed an unbalanced translocation with trisomy of the distal part of the short arm of chromosome 2 (2p21×2pter). A balanced reciprocal translocation was identified in the maternal karyotype 46, X, t(X;2)(q28;p21). The phenotype of partial trisomy 2p is

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1987.tb01372.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

ABSTRACT.This article describes a profoundly mentally retarded woman with spastic tetraplegia, deafness and abnormal liver function tests with a secondary Cystathioninuria. The Cystathioninuria could be corrected with vitamin B6supplementation.

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1987.tb01373.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

ABSTRACT.Least restrictive environments are assumed to be ones in which high‐quality care is to he found. The quality of care provided for four adult males living in hospitals and hostels is described. The data indicate that there are not only differences in the quality of care provided between hospitals and hostels, but variation within both types of setting. Attention is drawn particularly to the differences in care provided within the hostel settings. The use of simple monitoring devices to assist in better practices is recommende

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1987.tb01374.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY