SEARCH · PubMed Health

Results for “Intellectual Disability”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,261 records · Page 70Linked to original sources

PubMed2004

The Willowbrook futures project: a longitudinal analysis of person-centered planning.

We conducted a longitudinal comparative evaluation of person-centered planning processes and outcomes for 20 individuals with intellectual disabilities and problem behavior (former residents of Willowbrook) and a matched contrast group, who received traditional interdisciplinary service planning (ISP). At the inception of the study, all participants were living in one of four other developmental centers (institutions) in New York City. Process and outcome data obtained from questionnaires completed by team members approximately every 8 months at four time periods showed that the rate of improvement in both person-centered planning process and outcomes for the intervention group was significantly greater than that of the comparison group. Eighteen of 19 person-centered planning participants moved to community living arrangements, as did 5 of 18 in the contrast group.

Activities of Daily Living↗

PubMed2005

Cross-cultural study of quality of life indicators.

The concept of quality of life is increasingly being used internationally in the field of intellectual disabilities. We surveyed three respondent groups representing five geographical groupings on the importance and use of the 24 core quality of life indicators most commonly reported in the international quality of life literature. Results suggest (a) similar profiles on importance and use across respondent and geographical groups, but differences in the frequency per response category; (b) significant differences in mean quality of life importance and use scores for both respondent and geographic groupings; and (c) factors on importance and use generally grouped into eight core quality of life domains. Results are discussed in reference to the etic (universal) and emic (culture-bound) properties of the quality of life concept.

Adult↗

PubMed2003

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.

Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. A wide range of dysmorphic features and congenital abnormalities have been described in cases reported as Ohdo and Ohdo-like syndromes. We report a further two cases of Ohdo syndrome, one with mild features and the other more severely affected, illustrating the phenotypic variability of the condition. A review of the literature highlights the severe phenotype associated with distinctive facial features, as seen in Case 2 in this report All cases with the severe phenotype have been sporadic. Subtelomeric FISH studies of all chromosome arms on the two cases showed no abnormality. We propose clinical criteria for the diagnosis of Ohdo syndrome and delineate features of the severe phenotype.

Blepharophimosis↗

PubMed2006

X-linked mental retardation: many genes for a complex disorder.

X-linked mental retardation (XLMR) is a common cause of moderate to severe intellectual disability in males. XLMR is very heterogeneous, and about two-thirds of patients have clinically indistinguishable non-syndromic (NS-XLMR) forms, which has greatly hampered their molecular elucidation. A few years ago, international consortia overcame this impasse by collecting DNA and cell lines from large cohorts of XLMR families, thereby paving the way for the systematic study of the molecular causes of XLMR. Mutations in known genes might already account for 50% of the families with NS-XLMR, and various genes have been pinpointed that seem to be of particular diagnostic importance. Eventually, even therapy of XLMR might become possible, as suggested by the unexpected plasticity of the neuronal wiring in the brain, and the recent successful drug treatment of a fly model for fragile X syndrome.

Animals↗

PubMed2005

Staff reports of setting events associated with challenging behavior.

This study sought to identify the setting events reported by care staff as more and less likely to be associated with the challenging behaviors of people with intellectual disabilities. Sixty-five staff working with 22 individuals were interviewed using an inventory of putative setting events. Findings were collated to allow identification of those events reported to be associated with increased and decreased likelihood of challenging behavior. Some events were reported as strongly associated with the occurrence of challenging behavior, some as strongly associated with its absence, some as largely "inert," and many as idiosyncratically associated with occurrence, absence, or inertness. Different categories of setting events contributed different relative amounts to reported variation in challenging behavior. The use of the inventory described here, or modified versions, may be a useful way of identifying relationships between setting events and challenging behaviors, which suggest ways in which routine service provision might be modified to help prevent challenging behavior.

Adult↗

PubMed2002

An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS).

Velo-cardio-facial syndrome (VCFS) is associated with deletions on the long arm of chromosome 22, mild intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies investigating the neuropsychological functioning of adults with VCFS. We compared 19 adults with VCFS with 19 age, gender and IQ matched controls using a comprehensive neuropsychological battery. Compared to controls, adults with VCFS had significant impairments in visuoperceptual ability (Visual Object and Space Perception Battery), problem solving and planning (Tower of London) and abstract and social thinking (Comprehension WAIS-R). It is likely that haploinsufficiency (reduced gene dosage) of a neurodevelopmental gene or genes mapping to chromosome 22q11 underlies the cognitive deficits observed in individuals with VCFS.

Adult↗

PubMed1997

Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.

An adult male with intellectual disabilities demonstrated deterioration in many skills over a number of years and an increase in his temper outbursts was also reported. At 18 years of age, he had been diagnosed as having dihydropteridine reductase (DHPR) deficiency, but treatment had proved unsuccessful in the short term and was discontinued. Dihydropteridine reductase deficiency is a recessively inherited disorder of the amino acid metabolism resulting in a deficiency of tetrahydrobiopterin, an essential cofactor for phenylalanine, tyrosine and tryptophan metabolism. This causes a severe deficiency of neurotransmitters in the brain. Following further neurological examinations, treatment for the subject was recommenced at the age of 30 years. Few reports of late-diagnosis DHPR have been documented. This paper outlines one case report of DHPR, highlighting the importance of diagnosis, medical treatment and nursing care.

Adult↗

PubMed1996

The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome.

We described a profoundly intellectually disabled 24-year-old man with Wolf-Hirschhorn syndrome, left hemiplegia, epilepsy, atrophy of the right cerebral hemisphere, and dilatation of the right ventricle. The patient had a small ventricular septal defect, was wheelchair bound, and totally dependent. He had no speech, but vocalised to show his feelings. In this patient, the del(4)(p15) was subtle and arose due to the inheritance of a recombinant chromosome (4) from a maternal pericentric inversion-46,XX,inv(4) (p15.32q35). Fluorescence in situ hybridisation with probe D4S96 confirmed the deletion. This is the second case of Wolf-Hirschhorn syndrome resulting from a large pericentric inversion of chromosome 4.

Abnormalities, Multiple↗

PubMed2001

Living with support in the community: predictors of satisfaction with life.

Ensuring that people with an intellectual disability have normative levels of life satisfaction is increasingly considered a worthy goal for service providers. This review concerns the determinants of such satisfaction and embeds this literature within the Homeostatic Theory of Subjective Well-Being. This posits that life satisfaction is under considerable endogenous control and, as a consequence, does not normally vary in sympathy with changes in the external environment. This situation changes, however, if the environment is sufficiently aversive to defeat such homeostatic control. Under these conditions the circumstances of living correlate with life satisfaction as they wrest control away from the homeostatic system. One important implication is that the measure of life satisfaction may or may not be a sensitive indicator for changes in service provision, depending on the functional status of the homeostatic system. MRDD Research Reviews 7:99-104, 2001. (c) 2001 Wiley-Liss, Inc.

Forecasting↗

PubMed2005

Quality of life and its measurement: important principles and guidelines.

BACKGROUND: The importance of the valid assessment of quality of life (QOL) is heightened with the increased use of the QOL construct as a basis for policies and practices in the field of intellectual disability (ID). METHOD: This article discusses the principles that should guide the measurement process, the major interrogatories (i.e. who, what, when, where, why, and how) of QOL measurement, issues and procedures in the cross-cultural measurement of QOL, and the current uses of QOL data. RESULTS: Based on the above methods, the article presents a number of important guidelines regarding QOL measurement. CONCLUSION: From a measurement perspective the use of the QOL construct is changing. Initially it was used as a sensitizing notion, social construct, and unifying theme. Increasingly, it is being used as conceptual framework for assessing quality outcomes, a social construct that guides quality enhancement strategies, and a criterion for assessing the effectiveness of those strategies. This new role places additional emphasis on the valid assessment of one's QOL.

Culture↗

PubMed2003

Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22.

An X-linked recessive syndromic form of mental retardation is described in a family in which 10 males in four generations were affected. The main manifestations were severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, and difficult, aggressive behavior. There was a moderate reduction both in occipitofrontal circumference (OFC) and height and a similar facial appearance, triangular in shape with a high forehead, prominent ears, and a small pointed chin. Linkage analysis located the gene at Xp22 with maximum lod scores of 4.8 at theta = 0.0 for markers mapping between the closest recombination points at DXS7104 and DXS418. The physical length of this region is approximately 6 Mb. Mutations in the GRPR gene and M6b genes were excluded by sequence analysis. Nearby genes in which mutations are known to be associated with mental retardation (RPS6KA3, STK9, and VCXA, B and C), were excluded by position.

Age Factors↗

PubMed1997

Toward a functional analysis of private verbal self-regulation.

We developed a methodology, derived from the theoretical literatures on rule-governed behavior and private events, to experimentally investigate the relationship between covert verbal self-regulation and nonverbal behavior. The methodology was designed to assess whether (a) nonverbal behavior was under the control of covert rules and (b) verbal reports of these rules were functionally equivalent to the covert rules that control non-verbal behavior. The research was conducted in the context of teaching shopping skills to persons with mild intellectual disabilities using a self-instruction training format. In Phase 1, 4 participants were successfully taught to perform shopping skills using overt and covert self-instructions. The self-instructions were then blocked under overt and covert self-instruction conditions, which resulted in a reversal of shopping skills to baseline levels. This indicated that the overt and covert self-instructions might be controlling responding. In Phase 2, we demonstrated that the self-instructions, when used as external directives, produced successful shopping with 3 other participants. By demonstrating that self-rules can produce correct responding when used as external directives, we were more confident that it was the self-instructions and not other verbal or nonverbal behavior that controlled responding under overt, covert, and blocking conditions in Phase 1.

Adult↗

PubMed1997

Using neutralizing routines to reduce problem behaviors.

Establishing operations can alter problem behaviors by changing the momentary value of reinforcers associated with those problem behaviors. If establishing operations (EOs) precede the presentation of discriminative stimuli (SDs) for problem behaviors, it may be possible to introduce neutralizing routines that both reduce the value of reinforcers associated with problem behaviors and decrease the occurrence of problem behaviors. The present study examined this logic with 3 adolescents with severe intellectual disabilities. Initial functional analyses indicated that problem behaviors were motivated by either escape or tangible items. Functional assessment interviews identified possible establishing operations that were associated with the occurrence of problem behavior and indicated that these establishing operations occurred over 1 hr before presentation of the SD for problem behaviors. We used an alternating treatments design to examine problem behaviors during instruction under four conditions: EO + SD, SD only, EO only, and neither SD nor EO. For all 3 participants, problem behaviors occurred almost exclusively during the EO + SD condition. A further analysis compared the EO + SD condition when neutralizing routines were embedded between the EO and the SD. Results from an ABAB reversal design supported the effectiveness of neutralizing routines to reduce these problem behaviors. Applied and theoretical implications are discussed.

Adolescent↗

PubMedDate not supplied

The adaptive behavior scale-residential and community (part I): towards the development of a short form.

A potential 24-item short form (SABS) of the 73-item Adaptive Behavior Scale-Residential and Community (Part I) (ABS-RC2; Nihira et al., 1993a, b) was developed, based on data from two diverse UK samples of adults with intellectual disabilities living in residential services (n = 560 and 254). SABS factor and total scores showed good internal reliability in both samples (alpha 0.89-0.98), and were highly correlated with their full ABS-RC2 Part I equivalents (r = 0.97-0.99). Regression equations were calculated for SABS factor and total scores against their full ABS-RC2 Part I equivalents. Levels of agreement between predicted quartile scores (derived from the regression equations) and actual full ABS-RC2 Part I quartile scores were high (kappa 0.75-0.89; percentage agreement 82%-92%). It is concluded that the SABS is a potentially useful research tool, although further work is clearly needed to establish the reliability and cross-cultural validity of the instrument.

Activities of Daily Living↗

PubMed2002

The Edinburgh Principles with accompanying guidelines and recommendations.

A panel of experts attending a 3-day meeting held in Edinburgh, UK, in February 2001 was charged with producing a set of principles outlining the rights and needs of people with intellectual disability (ID)and dementia, and defining service practices which would enhance the supports available to them. The Edinburgh Principles, seven statements identifying a foundation for the design and support of services to people with ID affected by dementia, and their carers, were the outcome of this meeting. The accompanying guidelines and recommendations document provides an elaboration of the key points associated with the Principles and is structured toward a four-point approach: (1) adopting a workable philosophy of care; (2) adapting practices at the point of service delivery; (3) working out the coordination of diverse systems; and (4) promoting relevant research. It is expected that the Principles will be adopted by service organizations world-wide, and that the accompanying document will provide a useful and detailed baseline from which further discussions, research efforts and practice development can progress.

Alzheimer Disease↗

PubMed1992

Covariation within functional response classes: implications for treatment of severe problem behavior.

Two studies examined the effects of a reductive treatment versus instruction-based treatments on the generalized reduction of problem behaviors. Each study involved a detailed analysis of multiple problem behaviors performed by school-aged youth with severe intellectual disabilities. The analysis examined the contrasting effects of one of two different positive intervention procedures (teaching a positive alternative behavior or providing additional teacher assistance during instruction) versus blocking and/or verbally reprimanding a problem behavior. The focus of each analysis was on the covariation of multiple problem behaviors within functional response classes. Results of the investigation indicated that when only one member of the response class was blocked, a collateral increase was observed in one or more different problem behaviors from the same response class. Alternatively, when 1 participant was taught a functionally equivalent mand response, all problem behaviors in the response class were reduced. Problem behaviors also were reduced for the remaining participant by presenting antecedent teacher assistance. Implications of the research extend to analysis of covariation within response classes and to procedures that result in generalized reduction of problem behaviors within a response class.

Behavior Therapy↗

PubMed2025

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

PURPOSE: Synaptic communication deficits are central to many neurodevelopmental disorders. However, for rare monogenic conditions, these disorders remain poorly defined, with limited understanding of their molecular etiology. A homozygous frameshift variant in the synaptic cell adhesion molecule ELFN1 was reported in a family with 3 affected siblings with epileptic encephalopathy, alongside a missense variant of uncertain significance in a cohort study involving a family with intellectual disability. Therefore, we sought to evaluate the role and mechanism of biallelic ELFN1 variants in disease pathogenesis. METHODS: We describe 8 newly identified individuals from 5 unrelated families, all carrying homozygous ELFN1 variants, including frameshift and in-frame deletions. By integrating data from these cases with clinical details from 6 previously reported individuals, we delineate the phenotypic spectrum associated with ELFN1 variants. RESULTS: Clinical features include varying degrees of developmental delay/intellectual disability, epilepsy, and movement disorders. Molecular investigations reveal that these variants disrupt ELFN1 protein trafficking to the cell surface, resulting in loss of function. Functional modeling in mice and zebrafish demonstrates the role of Elfn1 loss in motor activity abnormalities and seizures. CONCLUSION: Our findings establish ELFN1 deficiency as the cause of a distinct, rare neurodevelopmental disorder, providing a foundation for future investigations into its pathophysiology and therapeutic strategies.

Humans↗

PubMed1994

Multiple functions of problem behaviors: assessment and intervention.

Three individuals with severe intellectual disabilities participated in separate analyses of problem behavior. In each case, a functional analysis was conducted under two parallel conditions. In one condition, self-injury or aggression resulted in escape from difficult tasks; in the second condition, the same problem behavior resulted in access to preferred items. Results indicated that the problem behaviors for each participant were maintained by both types of contingencies. Functional communication training was then delivered first in one condition and then in the second. After each participant was trained in a functionally equivalent mode of communication for one condition, levels of problem behavior decreased in that condition but not in the untrained condition. Only after separate communication forms were trained in both conditions was problem behavior reduced to clinically acceptable levels. These results document three examples of problem behaviors under multiple control, and emphasize the need to organize interventions that address different contingencies of reinforcement that maintain the same problem behavior.

Adolescent↗