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PubMedDate not supplied

[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].

INTRODUCTION: In about 6% of individuals with intellectual disability, dysmorphic features and congenital anomalies, an abnormal, apparently balanced karyotype is found. These abnormalities may result from abnormal expression of genes at the breakpoints, presence of a submicroscopic deletion, or other unbalanced chromosome aberrations. In such cases, the detailed analysis of breakpoints of balanced chromosome rearrangements may help with identification of genes responsible for patient's clinical features. AIM OF WORK: Was the explanation of causes of abnormal phenotype in the carriers with abnormal but balanced karyotype. MATERIAL AND METHODS: Cytogenetic-molecular analysis performed in nine patients with mental retardation, dysmorphic features and congenital anomalies. Studies with subtelomeric probes, high resolution comparative genomic hybridization (HR-CGH) and fluorescence in situ hybridization (FISH) with region-specific BAC clones were performed. RESULTS: Seventeen chromosome breakpoint regions were narrowed to 200-400 kb. In one case, an 0.5-Mb submicroscopic deletion associated with more complex rearrangement has been found. Mapping of the breakpoints and information obtained from the UCSC Human Genome Browser data base enabled identification of 46 genes in these regions. Twelve genes, that may have been disrupted as a result of the patients' chromosomal rearrangement, were found. At four different breakpoints the identified genes (NRCAM, NPTX1, NMT1, MAPT, HDAC5 and MEF2C) may be due to a position effect. CONCLUSIONS: The results confirm earlier suggestions concerning reasons of abnormal phenotype in the patients with balanced chromosome rearrangements and present the value of detailed analysis of the genome in such cases.

Abnormalities, Multiple↗

PubMed1998

An epidemiological and aetiological study of children with intellectual disability in Taiwan.

A large-scale cytogenetic study of the causes of intellectual disability (ID) in children from special schools and institutions was made in Taiwan between 1991 and 1996. The screening methods and the identification of subjects with ID consisted of both clinical evaluation (i.e. photographs, questionnaires on family, pre-, peri- and postnatal history, and hospital records, including IQ) and further laboratory studies for diagnosis (i.e. standard chromosome analysis, and if indicated, high-resolution banding, cytogenetic fragile-X study or molecular techniques). A total of 11,892 patients were enrolled in this study. After excluding the acquired causes of ID, such as infections and the sequelae of brain insults, or the well-known single-gene disorders and other multifactorial diseases, 4372 (36.8%) cumulative cases were recruited for karyotyping studies according to their phenotypes and medical records. Abnormal karyotypes were noted in 1889 children (43.2% of all selected children). Thus, the overall incidence of chromosomal aberrations in subjects with ID was estimated as 15.9%. Down's syndrome, the most common cause of ID, accounted for 82.4% of all patients with abnormal karyotypes. The causes of ID were considered to be prenatal in 55.2% (n = 6564) of cases, perinatal in 9.5% (n = 1130), postnatal in 3.3% (n = 392) and unknown in 32.0% (n = 3805) of cases. Two large groups were classified: (1) serious ID (37%), including profound, severe and moderate categories; and (2) mild ID (63%). The causes (pre-, peri- and postnatal, and unknown) in these two populations were: 70%, 10.5%, 5.4% and 14.1%, and 46.5%, 8.9%, 2.1% and 42.5%, respectively. Genetic causes accounted for 38.5% (n = 4578) of all cases in this study, including 1557 with Down's syndrome, 233 with fragile-X syndrome, 199 with other various chromosomal abnormalities (i.e. unbalanced translocation, supernumerary markers and structural rearrangements), 238 with a defined or presumed single-gene defect, and 98 with a recognized contiguous gene syndrome (Prader-Willi, 56; Angelman, 34; Williams, 5; and Kallmann, 3); 2120 cases had familial ID. Multiple anomalies of undefined pattern, but without chromosomal aberration, infantile autism, ID of normal phenotype or family history, were of the other categories. Patients with a single-gene disorder or chromosomal aberration, especially those with unbalanced translocated or rearranged chromosomes, had genetic counselling and family studies. Pre-screening with photographs and questionnaires may give a better costbenefit than blind mass cytogenetic studies for each individual with ID.

Adolescent↗

PubMedDate not supplied

The use of 'Snoezelen' as multisensory stimulation with people with intellectual disabilities: a review of the research.

The past 15 years have seen a marked increase in the use of Snoezelen with a wide range of groups including people with intellectual disabilities. Research has been undertaken with respect to a variety of behaviors, notably changes in affect, challenging behavior, relaxation and interactions with both other persons and objects. Typically studies have adopted an applied behavior analysis approach, with a small number employing physiological measures. Research designs vary markedly in their technical adequacy and the participants have a wide range of intellectual disability, age, and additional characteristics such as autism. Much of the literature reviewed demonstrates a wide range of positive outcomes when Snoezelen Vs non-Snoezelen environments are contrasted, though there is little evidence of generalisation even to the immediate post-Snoezelen environment. Several studies, however, do yield entirely negative outcomes. It is difficult to attribute these differing outcomes to either participant characteristics or contrasted designs, given the diversity of approaches to evaluation and the relatively small number of studies. The review also addresses the issue of staff and carer attitudes and the place of Snoezelen in facilitating positive interactions, incidental to any specific sensory effects. Attention is drawn to the need to improve research designs in studying Snoezelen and to developing a clearer theoretical basis for use of this approach.

Attitude of Health Personnel↗

PubMed1994

Preferred curricular activities and reduced problem behaviors in students with intellectual disabilities.

This research examined the relation between students' preferences for curricular activities and the occurrence of problem and desirable behaviors in 3 students with moderate intellectual disabilities. Activity preference was determined with a systematic assessment procedure. Subsequently, the influence of activity preference on student behavior was evaluated using a reversal design. Results showed that preferred activities were associated with reduced levels of problem behavior and increased levels of desirable behaviors. The findings of this investigation contribute to the applied literature on activity preference and suggest directions for future research in the areas of curriculum design, preference, and curricular modifications as a viable behavior-management strategy.

Adolescent↗

PubMedDate not supplied

Generalized identity matching to sample of two-dimensional forms in individuals with intellectual disabilities.

An assessment of identity matching to sample with two-dimensional forms was conducted with 44 subjects with moderate and severe intellectual disabilities. Identity matching that did not require conditional discriminative functions was tested first; subjects who passed that test were then tested on a conditional identity matching task. Tests for generalized identity matching were passed by 30 of the 44 subjects. The 14 individuals who did not pass were given a further teaching assessment that sought to teach identity matching directly via standard teaching methods. Some subjects also received training on a series of simple discriminations taught by the same methods. Four additional subjects passed identity matching tests. Overall, generalized identity matching was demonstrated in 34 of 44 subjects, including 7 of 16 individuals with mental age (MA) scores of 3.0 years and below and 14 of 15 individuals with MA scores between 3.0 and 5.0 years. Results with these two groups are much superior to those typically reported for individuals with comparable MA scores. The capacity for generalized performances requiring same/different judgments appears to have been substantially underestimated in this population, perhaps especially when the stimuli are two-dimensional, relatively abstract forms.

Adolescent↗

PubMed2005

Behavioural effects of phenylalanine-free amino acid tablet supplementation in intellectually disabled adults with untreated phenylketonuria.

AIM: To evaluate the effects of phenylalanine (Phe)-free essential amino acid (AA) tablets enriched in tyrosine and tryptophan on the performance of intellectually disabled adult patients with untreated phenylketonuria (PKU). METHODS: Phe-free AA tablets and placebo tablets were administered to 19 untreated PKU subjects on a normal diet for 6 mo in a prospective double-blinded crossover study. The adaptive behaviour of the patients was tested prior to the study and at 6 and 12 mo after the start, using a simplified version of the Vineland Adaptive Behaviour Scale. For each sub-domain, the patients were rated either "0" (for poor performance) or "1" (for good performance). Neurological signs and symptoms and specific behavioural characteristics were recorded monthly by caretakers. Every 6 mo, neurological examination of the patients was performed, and the caretakers were interviewed. The statistical significance of the results was tested by means of the Fisher's exact and Wilcoxon tests. RESULTS: The most significant changes were an improved concentration and the development of a meaningful smile, which were observed in 44% and 43% of the patients on AA tablet treatment, respectively, but not patients on placebo. Other important but less significant changes included increased awareness of external stimuli (63%) and less self-injury (43%), and 40% were smiling and laughing occasionally. The mean overall rating increased from an initial value of 6.3 to 10.1 in patients when on AA tablet treatment (p=0.002), and to 7.0 in patients when on placebo (p=0.068). The difference between active AA treatment and placebo was statistically significant (p=0.027). CONCLUSIONS: This pilot study suggests that Phe-free AA tablets enriched in tyrosine and tryptophan may improve the quality of life in some intellectually disabled adults with untreated PKU.

Adult↗

PubMed2005

Factors affecting people with intellectual disabilities in learning to use computer technology.

Using information technology (IT) in work and leisure has become an essential part of life. However, people with intellectual disabilities (ID) may have difficulties in learning the complex skills involved in IT. The aim of this study was to explore (1) level of competency in IT, (2) requirements to learn IT and (3) factors related to IT competency for people with ID. Three-hundred-and-fifty-three adults (age 16 years or above, mean age=28.77 years) with ID were assessed on basic IT skills using a self-developed skill-based checklist including the use of the keyboard and mouse and getting onto the Internet. A short questionnaire was sent out to the parents and caregivers to explore the various factors affecting the learning-teaching process. Results indicated that only 6.2% (22) of the participants knew how to operate the keyboard and mouse and 9.1% (32) were able to get onto the Internet; 33.1% of participants could not operate the computer system at all. Younger people with ID and with mild-grade ID have better IT skills. Three-hundred-and-twenty-seven (92.6%) caregivers reported that although they had a computer in their home or at their work place, people with ID were not given any opportunity to use it. They also reported difficulties in training people with ID to use IT due to insufficient knowledge on training techniques and a lack of software that is suitable for training. As modern society relies more and more on IT in daily activities, the poor computer competency of people with ID may lower their level of participation in leisure, functional and vocational aspects of life. Their general perception was that with sufficient training and support, people with ID could also join the world of IT.

Adolescent↗

PubMed2001

Evaluating a community nursing service: listening to the voices of clients with an intellectual disability and/or their proxies.

The aim of this study was to evaluate a specialist nursing service programme for people with an intellectual disability residing in the community. It is important to correct the imbalance in the literature that has neglected the voices of the clients themselves or denied expression by their proxies. The aim of the study was to gain a better understanding of matters of importance for clients and their families and to involve them in the evaluation of a service that directly affects their care. Only three clients were able to participate; however, 17 parents (next of kin) agreed to be interviewed. In-depth interviews were audio-taped, transcribed and analysed relating to the questions asked and were checked against the domains of the nursing practice in the disability area: continuity of care, advanced nursing practice, education and credentialling, personal and professional attributes, primary health care, and normalization. The findings confirm the high regard in which the programme is held. Service evaluation is crucial in providing evidence for programme funders. The favourable outcome of this evaluation meant that the programme gained funding for another few years.

Adaptation, Psychological↗

PubMed2006

Previously unidentified morbidity in patients with intellectual disability.

BACKGROUND: Adults with a learning disability frequently have unmet health needs. The cause for this is complex and may be related to difficulties in accessing usual primary care services. Health checks have been widely recommended as a solution to this need. AIM: To determine the likelihood that a structured health check by the primary care team supported by appropriate education would identify and treat previously unrecognised morbidity in adults with an intellectual disability. DESIGN OF STUDY: Individuals were identified within primary care teams and a structured health check performed by the primary care team. This process was supported by an educational resource. Face-to-face audit with the team was performed 3 months following the check. SETTING: Forty general practices within three health authorities in south and mid-Wales participated. They had a combined registered patient population of 354 000. METHOD: Health checks were conducted for 190 (60%) of 318 identified individuals; 128 people moved, died, withdrew from the study, or refused to participate. RESULTS: Complete data were available on 181 health checks; 51% had new needs recognised, of whom 63% had one health need, 25% two health needs, and 12% more than two. Sixteen patients (9%) had serious new morbidity discovered. Management had been initiated for 93% of the identified health needs by the time of audit. This study is the first to identify new disease findings in a primary care population and the likelihood that such disease will be treated. CONCLUSIONS: The findings reflect a concern that current care delivery leaves adults with an intellectual disability at risk of both severe and milder illness going unrecognised. Health checks present one mechanism for identifying and treating such illness in primary care.

Adolescent↗

PubMed2001

A revision of the Abel and Becker Cognition Scale for intellectually disabled sexual offenders.

The Abel and Becker Cognition Scale (ABCS) measures cognitive distortions supportive of sexually assaultive behavior by child molesters. Research has shown that ABCS items may be too complex to be comprehended by offenders with intellectual disabilities. A modification of the ABCS to increase its readability may be one way to facilitate the valid assessment of the cognitive distortions of intellectually disabled offenders. In addition, a dichotomous scoring system was found to be helpful in the reduction of extremity bias by such offenders. The revised items, explanation of the scoring system, and supporting data are available from the first author.

Cognition↗

PubMed2003

Delirium in adults with intellectual disabilities and DC-LD.

BACKGROUND: No systematic studies of delirium in adults with intellectual disabilities have been reported. Reasons for the absence of research are discussed. METHODS: Two cases of delirium are described which meet the Diagnostic Criteria for Psychiatric Disorders for Use with Adults with Learning Disabilities/Mental Retardation [DC-LD]. CONCLUSIONS: DC-LD offers a diagnostic framework that permits comparison with premorbid cognitive function.

Aged↗

PubMed2000

"I can speak for myself": involving individuals with intellectual disabilities as research participants.

The Lifespan and Disability Project, a 2-year qualitative study, was designed to enhance understanding of social integration by including the perspectives of individuals with intellectual disabilities. Procedures and strategies employed to involve these individuals in the project were documented. Specifically, we describe the use of individual interviews and focus groups (e.g., purpose, rationale, facilitation techniques) to collect data, and verification meetings in which a prompting hierarchy and cueing were employed to assist participants in confirming or disconfirming the researchers' interpretations of the emerging findings. Highlights of the results were presented to illustrate the efficacy of the strategies in enabling the participants with intellectual disabilities to share their perspectives on social integration.

Adolescent↗

PubMed2002

Residential care in the community for adults with intellectual disability: needs, characteristics and services.

BACKGROUND: The pattern of residential services for people with intellectual disability in England has changed dramatically since 1971, with many more places being made available in residential homes in the community. The aim of the present study was to assess the needs and characteristics of residents and features of all the residential homes provided by a national charity. METHOD: Assessments of adaptive behaviour, problem behaviour and social impairment were completed by staff who knew residents well; information about costs and staffing was provided from central records. RESULTS: A significant proportion of residents have important care needs relating to their skills, their behaviour and their social abilities. Residents with these needs are dispersed throughout services, so that a large majority of services include one or more residents with relatively complex needs. CONCLUSIONS: Compared with services in the late 1980s, these services care for a much more disabled client group. Since individuals with high levels of particular needs are typically distributed throughout services, a very high proportion of services require staff who have relatively advanced skills. Current national plans do not adequately address this need and case management arrangements may encourage the re-creation of more institutional services. DECLARATION OF INTEREST: The first author is a Trustee of the charity.

Activities of Daily Living↗

PubMed1999

Excess of non-right handedness among individuals with intellectual disability: experimental evidence and possible explanations.

Seventy-three subjects with mild and moderate intellectual disability (ID) of an unknown/idiopathic nature, who had no record of specific deficits in motor control, and 73 normal controls, matched for chronological age and sex, underwent evaluation of handedness. The results confirmed the previously reported excess of non-right handedness among subjects with ID, and suggested that this finding might be indicative of a deviant cerebral organization or atypical lateralization of cerebral representation of function in this group. However, it was noted that further research is needed to clarify how far this is a function of level of motor skill and how far is a syndrome-specific pathological phenomenon.

Adolescent↗

PubMed2000

Continuity and change in the use of residential services by adults with intellectual disability: the Aberdeen cohort at mid-life.

The present paper reports a follow-up study of a representative cohort of people with intellectual disability, now in middle age, who entered adult services on leaving school in the late 1960s, and whose adult years have coincided with a period of radical policy change and considerable service expansion. The present authors focus on the changes which have taken place in their use of residential services over this period. Firstly, the situation in early adulthood when they were last studied is examined. At this time, 60% of the cohort were still living at home, almost all with both parents. The remaining 40% were in institutions, mainly long-stay mental handicap hospitals. Out-of-home placement is associated with gender (maleness), challenging behaviour, and the absence of one or both parents. The present authors compare this with the situation 20 years later. The most significant change in this time is the expansion of the community sector, accounting for about half of the surviving cohort, with numbers still at home or in hospital correspondingly reduced. Almost half of the cohort had experienced little or no change in residential situation. On average, they were less intellectually and socially able than those who had moved into community provision.

Activities of Daily Living↗

PubMedDate not supplied

Functional grouping in residential homes for people with intellectual disabilities.

The effects of functional grouping of people with intellectual disabilities on care practices in small residential homes in the community were investigated. A group comparison and a matched-pairs comparison were carried out in settings where less than or more than 75% residents were non-verbal, non-ambulant, had severe challenging behaviour, severe social impairment or were verbal and ambulant. Further analysis, focused on those with challenging behaviour was carried out using ordinal regression. In the group-comparison study, no significant differences were found for three of the five groups. Residents who were non-ambulant were rated as receiving care with less interpersonal warmth in grouped settings; residents with severe challenging behaviour were rated as receiving less good care practices in four respects (interpersonal warmth, assistance from staff, level of speech and staff teamwork) in grouped settings. The matched-pairs comparison found significant differences only for people with challenging behaviour, where grouped settings achieved less good results in terms of interpersonal warmth and staff teamwork. Higher adaptive behaviour and mixed settings were predictive of better care practices on 13 of 14 items of the Active Support Measure (ASM), with some setting variables also predictive for some items. Care practices only appear to vary for people with challenging behaviour, where grouped settings appear to offer less good results in some respects.

Activities of Daily Living↗

PubMed2006

Coping and positive perceptions in Irish mothers of children with intellectual disabilities.

Thirty-six mothers of children aged between 5 and 8 years with intellectual disabilities completed five self-report questionnaires measuring variables related to behavioural and emotional difficulties, levels of care demand, family supports, coping and positive perceptions. The relationships among these variables were investigated using a working model proposed by Hastings and Taunt (2002). Child behavioural and emotional problems in the non-clinical range predicted low levels of care demand. Formal social support was an effective form of support for mothers; helpfulness of formal social support predicted mobilizing the family to acquire and accept help in the community; and mobilizing the family predicted levels of strength and family closeness. The majority of respondents rated agreement with statements that their child was: a source of happiness or fulfilment; a source of strength and family closeness; and a source of personal growth and maturity. The theoretical and clinical implications of these results are discussed.

Adaptation, Psychological↗

PubMed1996

The use of factor analysis for ascertaining patterns of psychopathology in children with intellectual disability.

The Developmental Behaviour Checklist (DBC) was developed to assess psychopathology in children with intellectual disabilities. A cut-off point between "non-cases' and "cases' was determined by comparison of the total scores with psychiatric clinical assessment. This paper describes a method aimed at determining the types of psychiatric problems in those regarded as "cases'. Factor analysis with varimax rotation carried out on a sample of 1093 subjects extracted six factors. Standardized factor scores were calculated for each subject in a community sample (n = 450), and the only or the dominant positive score was determined for each of the "cases'. Over 80% of "cases' could be allotted to one condition. Only a small number had none, or three or more conditions. The same procedure was replicated on a validation sample (n = 448) with even more satisfactory results. Differences in the prevalence of the six conditions by sex, age and level of mental retardation were ascertained. The validity and clinical relevance of this method are discussed.

Adolescent↗