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PubMed2004

The assessment and treatment of behavioural problems.

BACKGROUND: While general practitioners acknowledge their responsibility for the medical management of people with intellectual disability and autism, there may be a need for more skill in the assessment and management of behavioral problems. OBJECTIVE: This article provides an overview of services for this group of patients, the role of the GP, and provides a guide to assessment and treatment of behavioural problems. DISCUSSION: While GPs have skills in medical and psychiatric assessment, the different social, cognitive and communicative context in this group of people limits their ability to apply those skills. Nonetheless, familiarity with the patient and their social environment means that GPs have an important and central role in the ongoing management of patients with an intellectual disability.

Family Practice↗

PubMed1999

[Practice guidelines for diagnosis of vision disorders in mentally handicapped persons. National Organization for Quality Assurance in Hospitals].

Visual impairment is more frequent among people with intellectual disability than among the general population. Because the diagnosis often fails to be made in this group screening is justified. Timely recognition may have consequences for prevention and treatment. Therefore, a consensus statement has been developed by the Dutch associations of physicians for intellectual disability, general practitioners, ophthalmologists, paediatricians, youth health physicians and orthoptists. Specialized ophthalmological assessment of all young children with retarded development is recommended, as well as assessment of visual function at the ages of 3, 6, 12 and 18 years and every 5 years from the age of 45. In adults with Down's syndrome, an additional assessment at the age of 30 is recommended for detection of age-related cataract and (increased) refractive errors. Most people can be assessed by the general practitioner, using normal methods. Diagnostic methods applicable in insufficiently co-operative people have been recommended. Low-threshold regional expert centres for diagnosis in children and adults who are difficult to assess and for specialized guidance would be advisable.

Adolescent↗

PubMed1999

Boys have more health problems in childhood than girls: follow-up of the 1987 Finnish birth cohort.

The purpose of this study was to describe gender differences in children's health until the age of 7 y. The study cohort consisted of all children born in Finland in 1987 (n = 60254), of whom 99.9% were identified in the follow-up. Childhood health data were received from five national registers (1987-94), from regional registers of intellectual disabilities (1987-96) and from education registers in the largest county (1996). Boys had a 20% higher risk for a low 5-min Apgar score and an 11% higher risk for being preterm. After the perinatal period, boys had a 64% higher cumulative incidence of asthma, a 43% higher cumulative incidence of intellectual disability, a 22% higher incidence of mortality and a higher, but not statistically significant, incidence of epilepsy and vision disorders. No male excess was found for diabetes or hearing disorders. The healthcare-related indicators showed poorer health for boys, who had a 37% higher mean of hospital days, a 28% higher risk for receiving social benefits due to health problems and a 13% higher risk for long-term medication. The differences in the socially defined indicators were greatest, and boys had a two- to three-fold risk of having delayed development, postponed school start or attendance in special education programmes. Gender differences in different social classes were similar. Boys' shorter gestational age at birth did not explain the gender differences in childhood health. Some of boys' poorer health seemed to be biologically based, but the social causes of health problems are amenable to change. In particular, the potential of the school system to reduce ill health among boys should be investigated.

Absenteeism↗

PubMed2006

A cross-sectional multivariate analysis of children's attitudes towards disabilities.

BACKGROUND: Past research has shown that children can be biased against peers with disabilities, but the association of attitudes with gender, age and disability preferences, as well as interactions between these variables, are unclear. The objectives of this study were to examine these issues in a cross-sectional, split-plot study to clarify: (1) if elementary school children's attitudes towards peers with disabilities are related to age, gender and type of disability; (2) if interactions between these variables exist; and (3) if convergent validity could be achieved across three theoretically linked dependent variables. METHODS: One hundred elementary school children between 4 and 10 years old were assessed for attitudes towards target children with no disability, a physical or an intellectual disability, and a combined intellectual/physical disability. Measures were completed in an interview format. RESULTS: Attitudes towards a target child with physical disabilities and a target child without disabilities did not differ. There was a significant interaction for age and disability. Attitudes towards target children with intellectual and intellectual/physical disabilities were negatively biased, and were negatively associated with age. Results were consistent across measures except for a main effect of gender in one measure and a gender by age interaction in another. CONCLUSIONS: Children's attitudes appear to be associated with several factors, including age and the presence or absence of disability. Gender differences in attitudes may be because of gender-based response biases rather than disability biases. Because of the multifaceted nature of childhood attitudes, cross-sectional designs with several dependent and independent variables provide an opportunity to examine consistency of results across measures and potential interactions between factors that may not be uncovered when variables are examined in isolation.

Age Factors↗

PubMed2002

Psychometric evaluation of a Swedish version of the Reiss Screen for Maladaptive Behavior.

BACKGROUND: People with intellectual disability (ID) are afflicted by mental health problems to a greater extent than other individuals, and the coexistence of ID and mental health problems involves diagnostic as well as treatment difficulties. METHODS: A Swedish version of the Reiss Screen for Maladaptive Behavior (RSMB), an instrument used for identification of mental health problems in people with intellectual disability (ID) was evaluated in terms of inter-rater agreement, internal consistency, item grouping and criterion validity based on a random sample and a clinical group of adults with ID. RESULTS: The Swedish version of the RSMB had moderate-to-low inter-rater agreement on specific items and good internal consistency. The total score was considered to be a fairly reliable measure of a positive or negative result on the RSMB. A principal component analysis yielded seven interpretable components. A close resemblance in sets of items between the Swedish version and the original version of RSMB was found for three subscales: Aggressive Behaviour, Avoidance Disorder and Depression (Behavioural Signs). The outcome of the criterion validity analysis indicated a higher rate of false negatives than false positives. CONCLUSIONS: The potential influence of concurrent psychopharmacological treatment is discussed. It is concluded that the Swedish version of the RSMB can be used as intended by staff as a primary screening device for the identification of mental health problems among people with ID in a Swedish setting.

Adult↗

PubMed2001

Many-to-one and one-to-many associative learning in a naturalistic task.

Associative learning of a coding scheme for alternative and augmentative communication devices requires the formation of multiple associations to 1 stimulus or 1 response. Alternative study presentations differ on several important factors, including recognition versus recall responses and many-to-one versus one-to-many associative learning. Also, the directionality of the association emphasized at study does not necessarily parallel the use of the association, raising questions concerning retention. Two experiments tested expectations regarding the efficacy of 2 study presentations. The study presentations produced dissociative effects for acquisition versus retention of the coding scheme for normal and intellectually disabled participants. Consideration of the results and the manner in which the coding scheme is used recommends many-to-one training in which vocabulary items are given as stimuli and icons are learned as responses.

Adolescent↗

PubMed2004

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

This study was undertaken to document the phenotype of Kabuki (Niikawa-Kuroki) syndrome in patients from Australia and New Zealand, with particular emphasis on growth patterns, behavior, and relationship between head circumference and intellectual level. Data on 27 children and adults with Kabuki (Niikawa-Kuroki) syndrome from Australia and New Zealand were collected by questionnaire and clinical assessment. The patients ranged in age from 7 months to 36 years with a mean age of 7 years and 2 months. The mean age at diagnosis was 3(5/6) years, but in most cases, the facial phenotype was evident from infancy. The minimum birth prevalence was calculated at 1 in 86,000. Three of our patients died. Parents reported a behavior phenotype characterized by an excellent long-term memory and avoidance of eye contact. No correlation was found between head circumference and severity of intellectual disability. Eight of 14 patients over the age of 5 years were overweight or obese. Six of these eight patients had failure to thrive in infancy. One patient developed insulin-dependent diabetes mellitus in adolescence. Some individuals with Kabuki (Niikawa-Kuroki) syndrome show a characteristic growth profile with failure to thrive in infancy progressing to obesity or overweight in middle childhood or adolescence. A behavior phenotype was noted which requires further investigation. Head size is not a predictor of degree of intellectual disability.

Abnormalities, Multiple↗

PubMed2003

Genetics, mental retardation, and the forging of new alliances.

The lives of people with intellectual disabilities are tightly intermeshed with the philosophies and practices of special educators, therapists, psychologists, social workers, and others who make up the mental retardation field. These nonmedical workers represent a kind of extended family, which can strongly influence the decisions made and services received by the people they serve. By contrast, most individuals with mental retardation do not have extraordinary medical needs, and healthcare professionals play only a minor role in their human services family. There are deeply rooted historical differences between the medical model of mental retardation with which genetics professionals are familiar and the philosophies embraced by nonmedical workers who dominate the mental retardation field. These contrasts have an important impact on the genetic diagnostic process, as well as a more global effect on mental retardation research. Without the full participation of teachers, therapists, psychologists, and others outside the medical setting, many practical applications of genetic research can neither be implemented nor expanded upon, and an important opportunity for cross-fertilization is lost. It is in the interest of the genetics community to take advantage of recent overtures by the mental retardation field to forge new alliances and broaden its perspectives on intellectual disability.

Diagnosis, Differential↗

PubMed2024

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.

Mutations in genes encoding chromatin modifiers are enriched among mutations causing intellectual disability. The continuing development of the brain postnatally, coupled with the inherent reversibility of chromatin modifications, may afford an opportunity for therapeutic intervention following a genetic diagnosis. Development of treatments requires an understanding of protein function and models of the disease. Here, we provide a mouse model of Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (OMIM 603736) and demonstrate proof-of-principle efficacy of postnatal treatment. SBBYSS results from heterozygous mutations in the KAT6B (MYST4/MORF/QFK) gene and is characterized by intellectual disability and autism-like behaviors. Using human cells carrying SBBYSS-specific KAT6B mutations and Kat6b heterozygous mice (Kat6b+/-), we showed that KAT6B deficiency caused a reduction in histone H3 lysine 9 acetylation. Kat6b+/- mice displayed learning, memory, and social deficits, mirroring SBBYSS individuals. Treatment with a histone deacetylase inhibitor, valproic acid, or an acetyl donor, acetyl-carnitine (ALCAR), elevated histone acetylation levels in the human cells with SBBYSS mutations and in brain and blood cells of Kat6b+/- mice and partially reversed gene expression changes in Kat6b+/- cortical neurons. Both compounds improved sociability in Kat6b+/- mice, and ALCAR treatment restored learning and memory. These data suggest that a subset of SBBYSS individuals may benefit from postnatal therapeutic interventions.

Animals↗

PubMed2004

Are caregivers' reports of motivation valid? Reliability and validity of the Reiss Profile MR/DD.

BACKGROUND: Sensitivity theory proposes that there are wide individual differences in what motivates people with intellectual disability. The Reiss Profile MR/DD is a rating scale that measures 15 fundamental motives. This study examined the internal consistency and interrater reliability of the 15 subscales as well as the validity of motivational profiles. METHOD: The study consisted of two distinct but related steps. First, the interrater reliability of the rating scale was established by having pairs of raters evaluate 48 individuals. Second, raters were presented with three different motivational profiles and asked to identify which one corresponded to the individual they had rated 4 weeks earlier. RESULTS: Results indicated good internal consistency (average alpha=0.84), significant variability in the interrater reliability (average intraclass correlation coefficient=0.52), and excellent validity (95% of the correct profiles were chosen). Average discrepancies between pairs of raters are presented. CONCLUSIONS: Interrater reliability is an important topic for professionals working in the field of intellectual disability and results are discussed in terms of the factors that affect it. This is the first published study to report on the interrater reliability of the Reiss Profile MR/DD.

Adaptation, Psychological↗

PubMed1996

Memory abilities in children with Williams syndrome.

Williams syndrome (WS) is a rare genetic condition characterised by intellectual disability, typical facial dysmorphology and several medical anomalies. A specific neuropsychological profile with a dissociation between language (relatively preserved) and visuo-spatial abilities (more seriously impaired) has been hypothesised in these children. Memory abilities of these patients have not been adequately investigated, although they may substantially contribute to better understanding their neuropsychological profile. The present study aimed at investigating verbal and spatial memory in patients with WS (N = 16). Their performance was compared with that of normally developing children on tasks of verbal and spatial span and immediate and delayed recall of verbal and visuo-perceptual materials. Memory abilities of WS children appear to be characterised by defective visuo-spatial memory, both in the short-term and long-term domain, and a dissociation between normal short- but deficient long-term verbal learning. Results are interpreted by supporting the thesis that intellectual disability reflects the defective functioning of a complex system in which some cognitive competencies may be disrupted more than others (Detterman, 1987; Vicari, Albertini and Caltagirone, 1992).

Child↗

PubMed2004

The Resident Choice Scale: a measure to assess opportunities for self-determination in residential settings.

BACKGROUND: A 26-item Resident Choice Scale was designed to assess service practices for promoting resident choice. METHOD: The staff working with 560 UK/Irish adults with intellectual disability were interviewed. Specific examples of practices promoting resident choice were requested and independently rated by the interviewer. RESULTS: The interrater reliability of Resident Choice items was found to be acceptable (subsample n = 50). The psychometric properties of the Resident Choice Scale total score and scores on eight subscales were also acceptable. Consistently strong associations were found between greater resident choice and greater resident ability and, to a lesser extent, fewer resident challenging behaviours. Few associations were found between resident choice and autism or mental health problems. Even when controlling for resident ability and challenging behaviour, consistent associations were found between greater resident choice and the concurrent variables of greater community presence, fewer institutional practices, and greater user self-reported satisfaction (subsample n = 50). CONCLUSIONS: Taken together, this pattern of results indicates that the Resident Choice Scale shows promise as a measure of the environmental opportunities available for adults with intellectual disability to exercise self-determination. Areas for future research testing the reliability and validity of the Resident Choice Scale are outlined.

Adult↗

PubMed2004

Efficacy of n-3 polyunsaturated fatty acid enriched enteral nutrient solution in relieving oxidative stress in patients with severe psychophysiologic disorders.

It is not unusual for patients with severe motor and intellectual disabilities to present with eating and swallowing disorders, and such patients often require long term enteral nutrition. These patients tend to receive all their nutrients in the form of a single nutrient solution that is administered over a long period, and there are concerns about the impact of the composition of these nutrient formulas on patient health. Therefore, it is very important that adequate care be taken when selecting a nutrient formula for patients of this type. In the present study we administered two types of enteral nutrient solutions and examined the effect of the differences in nutrient composition on the degree of oxidative stress experienced by human patients. Subjects were 5 patients (mean age: 27.2 years; male/female ratio: 4:1) with severe motor and intellectual disabilities who were incapable of oral feeding, and who were receiving long term enteral nutrition. The subjects were administered a standard elemental diet for 2 months, and this was followed by administration of an n-3 polyunsaturated fatty acid enriched enteral nutrient solution for three months. Results showed that the n-3 polyunsaturated fatty acid enriched diet improved serum concentrations of trace elements, protein synthesis, and the balance between n-6 polyunsaturated fatty acids and n-3 polyunsaturated fatty acids, which are essential fatty acids. At the same time oxidative stress was reduced, and serum IgE levels declined significantly. Patients with severe psychophysiological disorders often suffer from repeated bouts of pneumonia due to immune system suppression, and there are reports that such patients are subject to increased allergic diathesis. The present results indicated that the in vivo membrane damage induced by oxidative stress may be closely related to the onset of these disorders. The results also suggested that in addition to attaining an adequate understanding of the effect of each of the various nutrients in enteral nutrient formulas, it will also be important to consider not only trace elements but also fatty acid composition in the nutritional management of patients with such disorders.

Adolescent↗

PubMed1998

Measuring the consumer satisfaction of class members of a law suit.

The present article describes a study of consumer satisfaction in a group of class members who are part of a mental disability law reform suit Consumer satisfaction was considered one aspect of compliance with this lawsuit. The class members have a primary diagnosis of intellectual disability, and in most cases, a secondary diagnosis of mental illness. Conducting consumer satisfaction studies among people with intellectual disabilities is often challenging because some of these consumers have difficulty articulating their needs and concerns. An interview schedule with simple quantitative and qualitative satisfaction questions was used. The present study investigated the satisfaction of a subgroup of these class members prior to and after having a court-supported service plan. The results reveal that these consumers became considerably more satisfied, and many of their specific satisfactions and dissatisfaction were identified. The results suggest that both quantitative and qualitative consumer responses can be helpful in determining compliance with court issues.

Adult↗

PubMed2006

Long-term efficacy and cost-effectiveness of polyethylene glycol 3350 plus electrolytes in chronic constipation: a retrospective study in a disabled population.

OBJECTIVES: The efficacy and safety of treatments for constipation in severely intellectually disabled patients and their associated cost-effectiveness are an under-investigated area of clinical practice. Aiming to address this, the objectives of the study were to evaluate the efficacy and tolerability of polyethylene glycol 3350 plus electrolytes (Movicol; PEG+E) by comparing clinical data collected before and after its introduction to a stable population of residents of a mental health care, long-stay institution. The study also attempted an economic evaluation of the use of PEG+E in this setting. RESEARCH DESIGN AND METHODS: This was a retrospective study of 54/66 severely intellectually and physically disabled residents of a specialist unit at La Milétrie University Hospital, Poitiers, France, who suffered regularly from constipation. A total of 54 residents were treated with PEG+E (1-3 sachets a day) for 24 months. The number of stools, episodes of diarrhoea (defined as frequent stools, not necessarily watery), body weights and blood biochemistry were recorded. Data were compared with those recorded during the 21 months preceding the introduction of PEG+E for 16/54 residents who had been treated regularly with a range of other interventions for the relief of constipation. The monthly use and costs of laxatives, enemas and suppositories was obtained from hospital pharmacy records, and the total hospital costs before and after the introduction of PEG+E treatment was calculated. RESULTS: The mean (+/- standard deviation) number of stools per patient per month was significantly greater following the introduction of PEG+E (24.9 +/- 6.3) compared to before its use (12.4 +/- 3.4) (p < 0.001). The mean (+/- standard deviation) monthly number of episodes of diarrhoea per patient before and after the introduction of PEG+E was 0.1 +/- 0.1 and 6.3 +/- 2.9, respectively (p < 0.001). Treatment with PEG+E was not associated with adverse effects on body weight or blood biochemistry values. Introduction of PEG+E and its increasing use reduced the total hospital medical ward expenditure on laxatives from 3788 to 1767 Euros per month. CONCLUSIONS: PEG+E is effective in the clinical management of constipation in an institutional setting. Furthermore, long-term intensive therapy with PEG+E was not associated with adverse effects on body weight or blood biochemistry values. Although the time periods over which the economic data and the efficacy and safety data were collected did not directly correspond, this study indicates that use of PEG+E in the management of constipation in people with severe intellectual disability may be cost-effective, reducing hospital laxative costs.

Adult↗

PubMed2003

Beyond the disability: recognizing mental health issues among persons with intellectual and developmental disabilities.

Current societal changes mean increased possibilities for individuals with I/DD to participate in work, family, and community life. However, as individuals with I/DD have at least the same prevalence of mental health disorders as the general population and possibly an increased susceptibility to some mental health disorders, their ability to participate in work, housing, and social opportunities is hampered. It is important to improve nursing education about the specific issues of mental health care of individuals with I/DD. An important area for nursing research and education are improved clinical and practice guidelines. Research on medications and other therapies in mental health care of individuals with I/DD is limited and has methodological limitations. Nursing education and training are holistic, and nursing has the potential of positive impact on practice, education, and research that will improve the mental health care of individuals with I/DD.

Adolescent↗

PubMed2026

Clinical Application of Long-Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China.

BACKGROUND: Fragile X syndrome (FXS) is a common inherited intellectual disability. In this study, long-read sequencing was used for the FMR1 gene detection. METHODS: Men with familial inherited intellectual disability and women with indications for FXS screening were defined as high-risk populations and were included in this study along with non-high-risk reproductive-aged women. PCR-capillary electrophoresis was used for preliminary screening of non-high-risk reproductive-aged women, and long-read sequencing was performed on abnormal samples and samples from high-risk populations. Prenatal diagnosis using long-read sequencing was performed for pregnant women in need. RESULTS: The prevalence of mutation in high-risk females was 3.10% (7/226). 3 mutations were detected in male samples, with a mutation ratio of approximately 8.3% (3/36). The three most common CGG repeats were 29, 30, and 36, respectively. Analysis of AGG interruption pattern in 242 samples identified 908 AGG interruptions, involving 67 different patterns. The most frequent AGG interruption pattern was (CGG)9AGG(CGG)9AGG(CGG)9. Furthermore, long-read sequencing was successfully applied for prenatal diagnosis in two pregnant women, and dynamic mutation of CGG repeat was detected within one family. CONCLUSION: Long-read sequencing-based assay cannot only accurately detect CGG repeat and AGG interruption, but also simultaneously identify other abnormalities of the FMR1 gene. Long-read sequencing offers a broader detection scope and better characterization of FXS-related genetic features.

Humans↗

PubMed1994

The meaning of activities of daily living in a Thai elderly population: development of a new index.

Activities of daily living (ADL) of 703 Thai elderly people (aged 60+ years) living in a Bangkok slum community were studied with the aims of describing the prevalence of disability, considering the appropriateness of Western ADL scales and developing a new ADL index for Asian populations. The levels of disability found were higher than in industrial populations and the important areas of disability were in instrumental ADLs. The mean (SD) Barthel ADL Index (BAI) for the group was 19.5 (1.2) with a range of 10-20. The mean (SD) Office of Populations Censuses and Surveys (OPCS) disability score was 4.8 (1.9) with a range of 0-10 but was unsuitable for use in Thailand because of misinterpretation of behavioural and intellectual disability leading to 99% of subjects being scored as disabled. An analysis of the underlying dimensions making up ADL was conducted using factor analysis. Four dimensions of ADL were found: basic self-care ADLs, extended ADLs, mobility ADLs and continence. An extended ADL index suitable for use in developing countries was developed (the Chula ADL Index) which had strong hierarchical properties and high correlations with both the OPCS disability score and the Barthel ADL Index. Analysis of data derived from ADL instruments should consider each ADL dimension separately. The BAI is useful as an index of self-care ADL but the behaviour and intellectual disability sub-scales of the OPCS scale require further development for cross-cultural applications.

Activities of Daily Living↗