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PubMed2005

The effect of different types of employment on quality of life.

BACKGROUND: Despite research that has investigated whether the financial benefits of open employment exceed the costs, there has been scant research as to the effect sheltered and open employment have upon the quality of life of participants. The importance of this research is threefold: it investigates outcomes explicitly in terms of quality of life; the sample size is comparatively large; and it uses an established and validated questionnaire. METHOD: One hundred and seventeen people with intellectual disability (ID) who were employed in either open or sheltered employment by disability employment agencies were interviewed. Quality of life was assessed using the Quality of Life Questionnaire. After making an initial assessment to see whether the outcomes achieved depended on type of employment, quality of life scores were analyzed controlling for participants' level of functional work ability (assessed via the Functional Assessment Inventory). RESULTS: The results showed that participants placed in open employment reported statistically significant higher quality of life scores. When the sample was split based upon participants' functional work ability, the type of employment had no effect on the reported quality of life for participants with a low functional work ability. However, for those participants with a high functional work ability, those in open employment reported statistically significantly higher quality of life. CONCLUSIONS: The results of this study support the placement of people with ID with high functional work ability into open employment. However, a degree of caution needs to be taken in interpreting the results presented given the disparity in income levels between the two types of employment.

Adult↗

PubMed2024

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

PURPOSE: The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in 4 siblings. METHODS: We identified 5 individuals from 3 unrelated families with biallelic variants in FAM177A1. The physiological function of FAM177A1 was studied in a zebrafish model organism and human cell lines with loss-of-function variants similar to the affected cohort. RESULTS: These individuals share a characteristic phenotype defined by macrocephaly, global developmental delay, intellectual disability, seizures, behavioral abnormalities, hypotonia, and gait disturbance. We show that FAM177A1 localizes to the Golgi complex in mammalian and zebrafish cells. Intersection of the RNA sequencing and metabolomic data sets from FAM177A1-deficient human fibroblasts and whole zebrafish larvae demonstrated dysregulation of pathways associated with apoptosis, inflammation, and negative regulation of cell proliferation. CONCLUSION: Our data shed light on the emerging function of FAM177A1 and defines FAM177A1-related neurodevelopmental disorder as a new clinical entity.

Humans↗

PubMed2005

The relationship between quality of life and self-determination: an international study.

BACKGROUND: The aim of this study was to evaluate the relationship between self-determination and quality of life (QOL) of persons with intellectual disabilities (ID) living in four countries (Canada, United States, Belgium and France). METHOD: Participants were 182 adults with mild ID living in community settings (with families, living independently or in supported living environments). QOL was measured with the Quality of Life Questionnaire. Self-determination was measured using the Adult version of The Arc's Self-Determination Scale. Discriminant function and correlational analyses were conducted. RESULTS: Discriminant function analysis indicated that essential characteristics of self-determination predicted membership in the high QOL group and that overall self-determination and QOL were significantly correlated, as were sub-scale scores. CONCLUSIONS: The study replicates findings from a previous study with an international sample and confirms the importance of self-determination to enhance QOL. Subsequent research should examine the direction of the relationship between self-determination and QOL and examine the relationship of essential characteristics of self-determined behaviour and core domains of QOL in greater detail.

Adult↗

PubMed2006

[Clinical characteristics and pharmacotherapy of extremely disruptive behavior disorders in people with mental retardation].

People with mental retardation often have behavioral problems. Psychotropic medications are used for the treatment of extremely disruptive behavior disorders in many cases. We surveyed the clinical characteristics and the current status of the pharmacotherapy regimens for inpatients with severe intellectual disabilities and behavior disorders at 8 national psychiatric hospitals. Many of them were men between 20 and 40 years and more than half of them had both extremely mental retardation and high motor ability. Antipsychotic drugs and anticonvulsants were frequently used. As they had more severe behavior disorder, they were taken the more psychotropic drugs. Autism was significantly associated and rough behavior was apparently associated with higher doses. A very weak correlation between the total score of extremely disruptive behavior disorders and the number of psychotropic drugs being administered per patient was seen. Use of new medicines, such as atypical antipsychotic drugs, was found about fifteen percent of the cases. In order to establish useful pharmacotherapy regimens for people with severe mental retardation and behavior disorders, it is necessary to perform routine judgment and evaluation of the pharmacotherapy focusing on targeted symptoms. We should also be attention to the quality of life issue. The aim of medical treatment should not be care workers' convenience, but be the improvement of quality of life of patients.

Adult↗

PubMed2000

Strategic planning and progress under the All Wales Strategy: reflecting the perceptions of stakeholders.

Nominated representatives from the various stakeholder interests, i.e. social services, health, education, voluntary organizations, parent groups and self-advocacy groups, involved in the implementation of the All Wales Strategy for the development of services for people with intellectual disability were interviewed 2 years after the end of the initial 10-year phase. Interviewees were asked to reflect on the strengths and weaknesses of policy implementation, including: changing priorities, planning arrangements, agency roles, central guidance and financial mechanisms, consumer participation, and the impact of more recent policy or structural developments. Despite recognition of the leadership of the Welsh Office, the shift in thinking achieved, the developments made in joint agency collaboration and in consumer participation in planning, and an increasing competence to plan effectively over time, the overriding perception was that more could have been made of the opportunity afforded by the clearest and best resourced central government policy within the UK in this area. At the heart of this judgement lay concerns about pragmatic rather than strategic planning, a failure to link annual service developments to a final comprehensive end point and a related failure to integrate planning to meet community needs with hospital resettlement Factors which may have contributed to these weaknesses are discussed, as are lessons for subsequent community care policy.

Community Health Planning↗

PubMed2026

Ocular Nystagmus as the Initial Presenting Feature in a Patient with Complete CLTC Deletion: Expanding the Genotype-Phenotype Spectrum of CLTC-Related Disorder.

Background: CLTC-related neurodevelopmental disorder is a rare condition primarily characterized by global developmental delay (GDD) and intellectual disability (ID). To date, approximately 41 cases involving CLTC gene alterations have been reported. We present the first individual with a complete deletion of the CLTC gene. Methods: The proband is a male from a non-consanguineous family, presenting with congenital nystagmus, hypotonia, GDD, and autism spectrum disorder (ASD). Chromosomal microarray analysis and trio exome sequencing were performed. A systematic review of previously reported CLTC variant cases was conducted to delineate the phenotypic spectrum. Results: A de novo 363-kb heterozygous deletion at 17q23.1 spanning the entire CLTC gene was identified. The systematic review confirmed GDD/ID as core features and revealed various ocular abnormalities in a subset of cases. These findings indicate that the clinical phenotype extends beyond neurodevelopment, with multi-system involvement. Conclusions: The phenotypic heterogeneity of CLTC-related disorders underscores the need for comprehensive physical examination to identify extra-neurological manifestations. Accurate diagnosis relies on integrating detailed clinical phenotyping with comprehensive genomic testing. Early, precise diagnosis facilitates multidisciplinary management, informed genetic counseling, and the establishment of long-term surveillance protocols.

Humans↗

PubMed2006

Decision-making of Chinese caregivers for adult out-of-home placement.

BACKGROUND: In the light of the existence of lengthy waiting lists for out-of-home placements, this study examines the factors affecting the decision to apply or not to apply for this facility in a city traditionally characterized by a cultural and policy emphasis on family responsibility and by relatively low levels of welfare commitment to residential services. METHOD: A sample of 321 people responsible for providing care for adults with moderate to severe intellectual disability (ID) from 22 service units of seven non-governmental organizations in Hong Kong was surveyed by means of a structured questionnaire. RESULTS: The non-application group reported better emotional ties with the people with ID and greater confidence in their caregiving skills, but also tended to be caring for more challenging people with poorer health and higher or more frequent levels of self-harm behaviour than the application group who exhibited higher levels of worry and fear. Discriminant analysis successfully predicted 80% of non-application cases, while logistic regression revealed that decline in perceived competence to care, absence of other health problems and at least one parent of the client having long-term illness were better predictors of the decision to apply than handicap-specific characteristics of the people with ID themselves. CONCLUSION: The implications of this finding are discussed, and consideration given to the possibility of developing policies designed to strengthen and treasure family values while not detracting from the importance of providing proper community support.

Adult↗

PubMed2004

Snoezelen or controlled multisensory stimulation. Treatment aspects from Israel.

In Israel today, with a total population of over 6 million persons, the Division for Mental Retardation (DMR) provides services to 23,000 persons with intellectual disability (ID). Of the 23,000, residential services are provided to more than 6,000 in close to 60 residential centers, another 2,000 are provided residential care in hostels or group homes in the community in about 50 locations, while the rest are served with day-care kindergarten, day-treatment centers, sheltered workshops, or integrated care in the community. The first Snoezelen room (controlled multisensory stimulation) in the DMR was established at the Bnei Zion residential care center in 1995. The Snoezelen method is now used in Israel in more than 30 residential care centers and 3 community settings. Since the year 2000, a physiotherapist has been employed in order to supervise the treatment and development of the method nationally. Professional staff meetings take place every 4 months. A certification course has been established on a national basis for individuals from different professions (occupational therapists, physiotherapists, teachers, music therapists, nurses, speech therapists, or caregivers). Snoezelen has proved to be an important instrument and a powerful therapeutic tool among the various treatment modules employed in Israel for persons with ID. This paper presents the concept illustrated with two case stories.

Humans↗

PubMed2025

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

PURPOSE: Glutamic-oxaloacetic transaminase (GOT), also known as aspartate aminotransferase, catalyzes the reversible transamination of oxaloacetate and glutamate to aspartate and α-ketoglutarate. Two isoforms, cytosolic (GOT1) and mitochondrial (GOT2), are integral to the malate-aspartate shuttle, a key regulator of intracellular redox homeostasis. Recently, 5 patients with biallelic variants in GOT2 were described, presenting with developmental and epileptic encephalopathy. METHODS: We report 11 additional patients with homozygous GOT2 variants, along with additional data from 4 previously reported patients. Through genetic, clinical, and biochemical analyses, we further characterize the phenotypic spectrum of GOT2 deficiency. RESULTS: Most patients exhibited progressive neurodevelopmental delay, severe to profound intellectual disability, infantile epilepsy, progressive microcephaly, and hypotonia evolving into spasticity with axial hypotonia. Dysmorphic features included narrow foreheads, broad nasal tips, and tall or pointed chins. Neuroimaging revealed 2 severity groups based on cerebral volume loss and myelination defects. Thinning of the corpus callosum and white matter abnormalities were common. Biochemical profiling identified low aspartate and high glycerol-3-phosphate in dried blood spots as potential screening markers. Patient fibroblast cells showed reduced serine and glycine biosynthesis, rescuable by pyruvate supplementation. CONCLUSION: These findings expand the phenotypic spectrum of GOT2 deficiency, establish it as a cause of developmental epileptic encephalopathy, and propose novel biomarkers for diagnosis and treatment.

Humans↗

PubMed1999

Observations on the use of the ICD-10 guide for mental retardation.

In acknowledgement of the challenges posed by the diagnosis of mental disorders in people with intellectual disability (ID), the World Health Organization (WHO) has recently published a multi-axial guide to assist clinicians in applying the ICD-10 to this group of people. The WHO has invited users to review of the ICD-10 Guide for Mental Retardation. In order to review its usefulness in clinical practice, the present authors used the Guide together with the ICD-10 in the psychiatric assessment of 106 young people with ID, and emotional and behavioural problems of varying severity. Strengths and weaknesses in the utility of the Guide were noted. As a result of the clinical audit process, the present authors identified a number of inconsistencies, significant gaps and assertions unsupported by the available literature in the Guide. They also noted aspects of the ICD-10 itself which are problematic when applied to people with ID. Despite these limitations, the Guide is a valuable first attempt to establish a standardized structure for multi-axial diagnosis in this population. A number of suggestions for major changes and refinements to future editions are made, and a strategy for development of research to establish validity and reliability is proposed.

Adolescent↗

PubMedDate not supplied

Physical activity of adults with mental retardation: review and research needs.

OBJECTIVE: To characterize physical activity levels of adults with mental retardation and identify limitations in published research. DATA SOURCES: Key word searches for "mental retardation," "intellectual disability," "learning disability," or "developmental disability" combined with "physical activity" or "habitual exercise" identified articles from MEDLINE, Academic Search Elite, Psych Articles, Health Source, and SPORT Discus. This produced a total of 801 citations. STUDY INCLUSION AND EXCLUSION CRITERIA: Published English-language literature that quantitatively measured physical activity levels of adults with mental retardation was included in this review. Fourteen articles met this criterion. DATA EXTRACTION: Characteristics of participants, study design, outcome measures, methods of analyses, and findings in terms of percentages, step counts, and accelerometer output were extracted. DATA SYNTHESIS: Data were synthesized to identify the percentage of adults with mental retardation who met published health-related physical activity criteria and compare them with adults without mental retardation and to examine study limitations. RESULTS: The studies with the greatest rigor indicate that one-third of adults or fewer with mental retardation were sufficiently active to achieve health benefits. However, data are insufficient to determine whether adults with mental retardation are less active than the general community. CONCLUSIONS: Future research would be enhanced by including appropriately powered representative samples, by including comparison groups, by validating physical activity questionnaires, and by determining the accuracy of proxy respondents.

Adult↗

PubMed2005

Treatment and management of challenging behaviours in congregate and noncongregate community-based supported accommodation.

OBJECTIVES: To compare the nature and prevalence of use of procedures employed to treat and manage challenging behaviours across two approaches to providing community-based supported accommodation for people with intellectual disabilities (ID) and severe challenging behaviour: noncongregate settings where the minority of residents have challenging behaviour, and congregate settings where the majority of residents have challenging behaviour. SETTING: Community-based supported accommodation for people with ID and challenging behaviour. DESIGN: Longitudinal matched groups design. MAIN OUTCOME MEASURES: The nature and prevalence of use of procedures employed to treat and manage challenging behaviours. Observed and reported severity of challenging behaviours. RESULTS: Both types of settings were associated with low prevalence of use of behavioural technologies for the reduction of challenging behaviour (less than 15% of participants). In contrast, high proportions of participant received antipsychotic medication in both noncongregate (56%) and congregate (80%) settings. Congregate settings were associated with the increased use of physical restraint as a reactive management strategy, with over half of participants being in receipt of physical restraint by two or more members of staff. DISCUSSION: Changes in reported and observed challenging behaviour over a 10-month period were slight. The use of evidence-based behavioural technologies for the reduction of challenging behaviour may have led to better outcomes.

Adult↗

PubMed1998

Investigating the relationship between stress and worker behaviour.

Direct care staff working in six residential group homes for people with intellectual disability were asked to complete a questionnaire which asked for information on levels of stress (anxiety and depression), the types of demand experienced by the staff, the support they received and the constraints they faced at work. Staff were also observed at work using a schedule which detailed who they interacted with, the content and type of interaction, and what activities staff were involved in. Measurement of workers' anxiety and depression levels confirmed management assessments of staff stress levels in the homes: two residential group homes were classified as 'low stress' and four as 'high stress'. A number of differences emerged between the two groups. Staff in the high stress homes reported greater demands and less support than those in the low stress homes. Higher levels of interaction were found between staff and residents in low stress houses, where more of the interaction was given as assistance and positive interactions. However, activities in higher-stress group homes appeared to be more community oriented, with staff spending a much greater amount of time out of the house. The importance of these results for both staff and residents is discussed, and suggestions for further work are made.

Adult↗

PubMed2023

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Recurrent de novo missense variants in H4 histone genes have recently been associated with a novel neurodevelopmental syndrome that is characterized by intellectual disability and developmental delay as well as more variable findings that include short stature, microcephaly, and facial dysmorphisms. A 4-year-old male with autism, developmental delay, microcephaly, and a happy demeanor underwent evaluation through the Undiagnosed Disease Network. He was clinically suspected to have Angelman syndrome; however, molecular testing was negative. Genome sequencing identified the H4 histone gene variant H4C5 NM_003545.4: c.295T>C, p.Tyr99His, which parental testing confirmed to be de novo. The variant met criteria for a likely pathogenic classification and is one of the seven known disease-causing missense variants in H4C5. A comparison of our proband's findings to the initial description of the H4-associated neurodevelopmental syndrome demonstrates that his phenotype closely matches the spectrum of those reported among the 29 affected individuals. As such, this report corroborates the delineation of neurodevelopmental syndrome caused by de novo missense H4 gene variants. Moreover, it suggests that cases of clinically suspected Angelman syndrome without molecular confirmation should undergo exome or genome sequencing, as novel neurodevelopmental syndromes with phenotypes overlapping with Angelman continue to be discovered.

Male↗

PubMed2007

Pain's impact on adaptive functioning.

BACKGROUND: Pain interferes with the functioning of typical children, but no study has examined its effect on children with pre-existing intellectual disabilities (ID). METHODS: Caregivers of 63 children observed their children for 2-h periods and recorded in 1-week diaries: pain presence, cause, intensity and duration. Caregivers also recorded the children's performance of pre-existing skills during each period. Proportion of skills displayed when pain was present and absent was compared. Fifty caregivers completed a second set of observations when pain was present and absent. RESULTS: Comparison of the first set of observations indicated children displayed significantly more abilities (64%) when pain-free (Pain-Free Day 1), than when pain was present (54%; Pain Day 1). Children displayed 64% of their possible abilities during Pain-Free Day 2, but only 53% during Pain Day 2. Pain impacted all areas of function (communication, daily living, social and motor skills). Children's physical and demographic characteristics did not moderate the impact of pain on function, but functioning of children with more severe ID was most impacted by pain. CONCLUSIONS: Children perform fewer adaptive skills when pain is present. This could affect long-term functioning as well, through reduced practice of skills.

Adaptation, Psychological↗

PubMed2003

Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation.

A female patient with non-syndromic mental retardation was shown by high resolution GTL banding to have inherited an apparently balanced translocation, 46,X,t(X;8)(q28;q12)mat. Replication studies in the mother and daughter showed a skewed X inactivation pattern in lymphocytes, with the normal X chromosome preferentially inactivated. The mother also had significant intellectual disability. To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). This showed that the four known genes involved in non-syndromic mental retardation in Xq28, FMR2, SLC6A8, MECP2, and GDI1, were not involved in the translocation. Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning genomic clone and further analysis showed a 650 kb submicroscopic duplication between DXS7067 and DXS7060 on either side of the X chromosome translocation breakpoint. This duplicated region contains 11 characterised genes, of which nine are expressed in brain. Duplication of one or several of the genes within the 650 kb interval is likely to be responsible for the mental retardation phenotype seen in our patient. Xq28 appears to be an unstable region of the human genome and genomic rearrangements are recognised as major causes of two single gene defects, haemophilia A and incontinentia pigmenti, which map within Xq28. This patient therefore provides further evidence for the instability of this genomic region.

Child↗

PubMed2001

Effect of unexpected outcomes and causal attributions on key workers' expectancies of goal attainment.

Goal planning is an integral part of the role of the key worker in services for people with intellectual disability. The present study investigated the effect of the Weiner stability-expectancy principle on unexpected outcomes in goal planning. Four hundred and twenty-two actual goal attainment scales were constructed, with each scale describing the key workers' expected levels of outcome. Two hundred and twenty-six (54%) unexpected outcomes, both successful and unsuccessful, were then rated by key workers to provide a causal explanation for each outcome. These explanations were then grouped according to whether the attributions represented stable or variable causes. Finally, key workers were asked to provide a new expectancy rating to forecast future goal attainment. Two predictions from Weiner's model were confirmed by statistical analysis: (1) that success attributed to stable factors would lead to higher revised forecasts of goal attainment than success attributed to variable factors; and (2) that failure attributed to stable factors would lead to lower revised forecasts of goal attainment than failure attributed to variable factors. The results of the present study confirm that stability attributions do alter key workers' revised forecasts of goal attainment. The results are discussed in terms of the possible consequences for key worker behaviour, such as goal abandonment, differential treatment of service users and the need for a knowledgeable approach to performance appraisal by managers.

Adult↗

PubMed2005

Psychiatric symptoms in alpha-mannosidosis.

Alpha-mannosidosis is characterized by mild to moderate intellectual disability (ID), moderate to severe neurosensory hearing loss, frequent infections, psychomotor disturbances and skeletal dysmorphism. For the first time, a panel of nine alpha-mannosidosis patients with psychiatric symptoms is presented. The clinical picture has several similarities: a physical or psychological stressor precedes a rapid development of a state of confusion, delusions, hallucinations, anxiety and often depression leading to a severe loss of function. This usually lasts 3-12 weeks, and is followed by a period of somnolence and asthenia. It may be more prevalent in females. In four of the described patients search for organic causes of the syndrome was performed, but revealed only negative findings. Because of the limited number of cases no firm conclusion about the benefit of various psychotropic drugs can be drawn from our observation. Psychiatric symptoms could affect as many as 25% of patients with alpha-mannosidosis. First onset is typically in late puberty to early adolescence. The episodes may be recurrent, and of limited duration although medication may be necessary to alleviate symptoms. Our observations indicate that alpha-mannosidosis is associated with an increased risk of psychiatric symptoms. These should not be dismissed as part of the ID but should give rise to the initiation of adequate diagnostic work-up, treatment and support.

Adolescent↗