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1. |
Alterations in replication timing of X‐chromosome bands in Rett syndrome |
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Journal of Intellectual Disability Research,
Volume 39,
Issue 2,
1995,
Page 91-96
M. H. Kormann‐Bortolotto,
T. Webb,
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摘要:
AbstractA cytogenetic study has been carried out on 30 girls affected with Rett syndrome, 35 of their family members and 25 unrelated healthy control females.Karyotyping at the 850 band level revealed no detectable chromosome abnormalities in either the affected girls or their families. Observations on the sequence of the appearance of early replicating bands on both the active and the inactive X‐chromosome demonstrated the same replication patterns in all of the groups investigated with the exception that band Xp2i appeared with greater frequency in the Rett syndrome cells. A degree of variation was detected both between and within the subjects when the timing of the latest bands to replicate was investigated for the active X, but the same consensus order was obtained for all groups.A comparable number of elongated X‐chromosomes was found in the girls with Rett syndrome (8%) when compared to their mothers (12%) when synchronized cells were treated with a short pulse of BrdU. If a disturbance in X‐inactivadon does contribute to the aetiology of Rett syndrome, it is at a level which is not detected by observations on the relative timing of replication of chromosome
ISSN:0964-2633
DOI:10.1111/j.1365-2788.1995.tb00476.x
出版商:Blackwell Publishing Ltd
年代:1995
数据来源: WILEY
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2. |
Behaviour problems in Angelman syndrome |
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Journal of Intellectual Disability Research,
Volume 39,
Issue 2,
1995,
Page 97-106
J. A. Summers,
D. B. Allison,
P. S. Lynch,
L. Sandier,
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摘要:
AbstractAngelman syndrome (AS) is a genetic disorder that is associated with a deletion on chromosome 15, and is characterized by abnormalities or impairments in neurological, motor and intellectual functioning. While behaviour problems have been reported iri clients with AS, relatively little is known about their developmental course and outcome. In this study, data on the nature and prevalence of behaviour problems among clients with AS were gathered from two sources: (i) a review of published case reports; and (2) parent responses to a survey of behaviour problems in a small (n= 11) sample of children with AS. Data from both sources showed that behaviour problems were present in males and females of all ages, and included language deficits, excessive laughter, hyperactivity, short attention span, problems with eating and sleeping, aggression, noncompliance, mouthing of objects, tantrums, and repetitive and stereotyped behaviour. Identification and treatment of severe behaviour problems in clients with AS may improve their adaptive functioning.
ISSN:0964-2633
DOI:10.1111/j.1365-2788.1995.tb00477.x
出版商:Blackwell Publishing Ltd
年代:1995
数据来源: WILEY
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3. |
Employment, retirement and elderly persons with an intellectual disability |
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Journal of Intellectual Disability Research,
Volume 39,
Issue 2,
1995,
Page 107-115
A. F. Ashman,
J. N. Suttie,
J. Bramley,
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摘要:
AbstractA national Australian study of people with an intellectual disability of 55 years of age and over investigated their employment and retirement patterns, attitudes to work and retirement, and the degree to which they were involved in leistire or recreational programmes. Two cohorts were recruited: one included all known members of the target group who agreed to participate in the study in the states of Queensland and Western Australia; and the second was a proportional, random sample drawn from a national database on a state population basis. A large number of the participants had never been involved in full‐ or part‐time employment, either in a competitive or supported environment, or in workshops. The majority of those who had worked expressed strong positive attitudes toward employment and concern about retirement, suggesting the need for pre‐retirement programmes including transition and choice‐making skills to prepare participants for the
ISSN:0964-2633
DOI:10.1111/j.1365-2788.1995.tb00478.x
出版商:Blackwell Publishing Ltd
年代:1995
数据来源: WILEY
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4. |
How do careers assess the severity of challenging behaviour? A total population study |
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Journal of Intellectual Disability Research,
Volume 39,
Issue 2,
1995,
Page 117-127
K. Lowe,
D. Felce,
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摘要:
AbstractThe severity of management problems of 13 types of problem behaviour presented by a total population sample of people with learning disabilities, as reported by their primary carers on eight separate assessments over 5 years, was examined. Three types of residential setting were represented: hospitals, family homes and community houses. The results showed a remarkable consistency in carers’ assessments of the severity of management problem posed to them. An association was found between the reported frequency of occurrence and the assessment of the severity of behaviours, with certain behaviours likely to be rated as severe regardless of the frequency with which they occurred. Differences between residential settings were found, with carers in family homes and community houses rating more behaviours as presenting severe management problems than carers in hospital. The results from this study and other studies which have examined the relative severity of different behaviour topographies are discusse
ISSN:0964-2633
DOI:10.1111/j.1365-2788.1995.tb00479.x
出版商:Blackwell Publishing Ltd
年代:1995
数据来源: WILEY
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5. |
Electrophysiological correlates of psychopathology in individuals with mental retardation and epilepsy |
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Journal of Intellectual Disability Research,
Volume 39,
Issue 2,
1995,
Page 129-135
S. Deb,
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摘要:
AbstractOne hundred adults with mental retardation and epilepsy were randomly selected from hospital and community settings for a detailed study of psychopathology (maladaptive behaviour, psychiatric illness and personality disorder). All of them had a recording of interictal EEG within the 12‐month study period. Of all the EEG recordings, nine were completely normal, 48 showed excessive slow background wave, and a further 43 showed epileptiform discharges. Of the 43 with epileptiform discharges in the EEG, 12 showed bilateral, diffuse, generalized activities (including 3 Hz abnormality), 18 showed temporal lobe focus (five left‐sided, four right‐sided and nine bilateral), and the other 13 showed secondary generalization from a temporal lobe focus. A comparison of psychopathology between the groups with a generalized epileptiform activity in the EEG (n= 12) and focal changes (n= 18) did not reveal any significant diffe
ISSN:0964-2633
DOI:10.1111/j.1365-2788.1995.tb00480.x
出版商:Blackwell Publishing Ltd
年代:1995
数据来源: WILEY
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6. |
Menopause in women with learning disabilities |
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Journal of Intellectual Disability Research,
Volume 39,
Issue 2,
1995,
Page 137-139
J. Carr,
S. Hollins,
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摘要:
AbstractA brief questionnaire concerning previous and current menstrual status was sent to 280 women over the age of 35 on the Wandsworth Register for People with Leaming Disabilities: 196 questionnaires (70·4%) were returned. One hundred and seventy‐one were used in the analyses; 45 were from women with Down's syndrome. The results suggested that, compared with data on normal women, menopause may occur earlier in women with leaming disabilities and earlier still in women with Down's syndro
ISSN:0964-2633
DOI:10.1111/j.1365-2788.1995.tb00481.x
出版商:Blackwell Publishing Ltd
年代:1995
数据来源: WILEY
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7. |
Autism in immigrants: children born in Sweden to mothers born in Uganda |
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Journal of Intellectual Disability Research,
Volume 39,
Issue 2,
1995,
Page 141-144
C. Gillberg,
H. Schaumann,
I. C. Gillberg,
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摘要:
AbstractThree boys diagnosed as suffering from autistic disorder were born in Sweden to mothers born in Uganda. Two were related but the third boy was unrelated to the others. The prevalence for autistic disorder in Goteborg children born to mothers who were born in Uganda was 15% which is almost 200 times higher than in the general population of children. The possible reason for the high autism rate in this particular ethnic subgroup is discussed.
ISSN:0964-2633
DOI:10.1111/j.1365-2788.1995.tb00482.x
出版商:Blackwell Publishing Ltd
年代:1995
数据来源: WILEY
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8. |
Urine fetish in a man with learning disabilities |
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Journal of Intellectual Disability Research,
Volume 39,
Issue 2,
1995,
Page 145-147
R. A. Collacott,
S.‐A. Cooper,
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摘要:
AbstractUrine fetishes are uncommon. A 30‐year‐old man with leaming disabilities and a fetish for observing women urinate is described, and the possible dynamic aspects of his paraphilia are discus
ISSN:0964-2633
DOI:10.1111/j.1365-2788.1995.tb00483.x
出版商:Blackwell Publishing Ltd
年代:1995
数据来源: WILEY
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9. |
International Colloquium on Mental Retardation and Alzheimer's Disease |
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Journal of Intellectual Disability Research,
Volume 39,
Issue 2,
1995,
Page 149-150
S. Deb,
M. Janicki,
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ISSN:0964-2633
DOI:10.1111/j.1365-2788.1995.tb00484.x
出版商:Blackwell Publishing Ltd
年代:1995
数据来源: WILEY
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10. |
Book Reviews |
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Journal of Intellectual Disability Research,
Volume 39,
Issue 2,
1995,
Page 151-160
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摘要:
Listen to Me: Communicating the Needs of People with Profound Intellectual and Multiple Disabilities,Pat FittonLearning Disability (Mental Handicap) Distance Leaming Workbook for General Practitioners,Gwyn Howells, Mike Kerr&Bruce LervyAction Research, Special Needs and School Development,Edited by Gordon Bell, Richard Stakes&Geoff TaylorPositively Parents: Caring for a Severely Disabled Child,Bryony BeresfordPeople with a Learning Disability and Severe Challenging Behaviour: New Developments in Service and Therapy,Edited by I. Fleming&B. Stenfert KroeseChallenging Behaviour and Intellectual Disability: A Psychological Perspective,Edited by R. S. P. Jones&C. B. EayrsChallenging Behaviour and Intellectual Disability: A Psychological Perspective,Edited by R. S. P. Jones&C. B. EayrsClinical Approaches to the Mentally Disordered Offender,By K. Howells&C.R. HollinNeuropsychiatric Disorders,By G. W. Roberts, P.N. Uigh&D.R. WeinbergerTowards a Restraint Free Environment,By Judith V. Braun&Steven LipsonThe Causes of Mental Retardation, Parts I and 2, Kehitysvammaliitto Finnish Association on Mental Retardation
ISSN:0964-2633
DOI:10.1111/j.1365-2788.1995.tb00485.x
出版商:Blackwell Publishing Ltd
年代:1995
数据来源: WILEY
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