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 1,531 records · Page 85Linked to original sources

PubMed2006

Verbal intrusions precede memory decline in adults with Down syndrome.

BACKGROUND: Verbal intrusion errors are irrelevant responses made in the course of verbal memory retrieval or language production that have been associated with disruption of executive functions and the prefrontal cortex. They have been observed to occur more frequently both with normal aging and with neurodegenerative diseases such as Alzheimer's disease (AD). The purpose of this study was to longitudinally examine the production of verbal intrusions among middle-aged adults with Down syndrome (DS) and unspecified intellectual disability (ID) to determine whether producing verbal intrusions at one point in time was related to subsequent verbal memory performance. Because of the combination of a relative deficit in verbal working memory (WM), premature aging, and higher risk of AD among adults with DS, it was predicted that they would make more verbal intrusions than adults with unspecified ID. METHODS: Word List recall (WLR), the Selective Reminding Test (SRT), and the Cued Recall Test (CRT), were administered three times at 18-month intervals during a 3-year period. In Analysis 1, aetiology differences in making intrusion errors were examined. Twenty-three adults with unspecified ID in the moderate to mild range [time 1(T1) mean age = 47.2 years] and 42 adults with DS (T1 mean age = 44.3) participated. WLR is a serial WM task beginning at two word sequences and progressively increasing by one word every three trials. WLR intrusions were analysed because they were least likely to include 'educated guesses' because this test is not based on semantic categories. In Analysis 2, we only examined participants with DS. They were divided into two groups, 16 individuals who made at least one intrusion error at T1 (T1 mean age = 45.8) and 26 who did not (T1 mean age = 43.3). Longitudinal performance for these groups was analysed to determine whether the group that intruded at T1 did more poorly on subsequent memory tests. RESULTS: A higher proportion of responses comprised intrusions for the group with DS and a higher percentage of the participants with DS made at least one intrusion error when compared with participants with unspecified ID (74% and 44% respectively). Those participants with DS who made at least one intrusion error at T1 showed a subsequent decline in performance on both WLR and the SRT. CONCLUSIONS: The production of intrusion errors during a verbal WM task is a characteristic of middle-aged adults with DS. This suggests compromised executive function and control of inhibition within the verbal modality for this group. Further, verbal intrusions are a qualitative aspect of verbal processing that merit attention in considering the issue of deficiencies of language and verbal WM abilities among people with DS. Last, and perhaps most importantly, although not definitive diagnostically, an increase in verbal intrusions is a potentially noteworthy signal when evaluating the cognitive health of adults with DS.

Adult↗

PubMed2005

An investigation of executive function abilities in adults with Prader-Willi syndrome.

BACKGROUND: Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of expression of maternally imprinted genes on the long arm of chromosome 15 (15q 11-13). There are two main genetic sub-types: (1) deletion, caused by the absence of paternally derived genetic material; and (2) uniparental disomy (UPD), where two copies of maternally derived chromosome 15 are present. In addition to generally mild/borderline intellectual disability (ID) and the almost universal feature of hyperphagia, PWS is associated with high rates of behaviour problems including temper tantrums, compulsive behaviour, perseverative speech, skin picking and rigid thinking. The present study seeks to explore whether these behaviours are associated with relative deficits in executive function (EF), which comprises the set of non-automatic processes utilized by an individual when faced with a novel situation. METHODS: Eighteen adult participants with a clinical diagnosis of PWS (12 with deletion sub-type, 6 with UPD) were recruited from a UK Health Service PWS clinic, and compared with 15 participants of similar age and verbal ability on a series of EF tasks and also Digit Span Forwards. An informant completed two ratings of behaviour, the Aberrant Behavior Checklist (ABC) and the Dysexecutive Questionnaire (DEX). RESULTS: The PWS group had significantly higher scores on the ABC but not on the DEX. There were no significant differences between the whole PWS group and the comparison group on any of the EF tasks. The deletion sub-type group was significantly poorer at a non-executive task, Digit Span Forwards. There was an unexpected trend for the deletion sub-type group to show more efficient performance on a visuospatial planning task, the Tower of London (TOL), but this trend did not reach significance. CONCLUSIONS: The lack of relative deficits in EF task performance does not support the hypothesis that EF differences could account for the high levels of behaviour problems found in PWS. Applying the Baddeley and Hitch model of working memory it is suggested that the PWS group have a relatively intact central executive and visuospatial sketchpad but a relative impairment in the phonological loop, perhaps relating to the capacity of the phonological store. This latter finding seems to be particularly salient for those with a deletion. As differences in EF ability were not found, it is suggested that a region of the brain involved in the modulation of emotion but not particularly with EF, the orbitofrontal cortex (OFC), may be implicated in the behaviour problems reported in PWS.

Adult↗

PubMed2005

Stability and change in cognitive ability over the life span: a comparison of populations with and without Down's syndrome.

BACKGROUND: Longitudinal studies show that in the general population IQ declines with age: early and rapidly in the case of performance IQ, later and more slowly in the case of verbal IQ. These populations have not apparently included people with intellectual disabilities (ID). METHOD: A literature search identified 11 studies, some cross-sectional and others longitudinal, which provided data on a variety of verbal and performance tests, over periods from 3 to 19 years, on older people with ID. Following statistical advice the results from the different tests were converted into the equivalent of, for verbal scores, British Picture Vocabulary Scale, and for performance scores, Leiter International Performance Scale, raw scores. Percentage change between earlier and later scores was then calculated. RESULTS: With one exception the studies considered tend to show verbal ability declining relatively more, and performance ability declining relatively less, than has been shown to occur in the general population. Potential confounding factors, such as population attrition, cohort effects, etc., are thought not to have affected these results. CONCLUSIONS: The pattern of change with age in verbal and performance ability appears different in people with ID from that seen in the general population. Some possible reasons for this difference are discussed.

Age Factors↗

PubMed2005

Quality of life from the point of view of Latin American families: a participative research study.

BACKGROUND: To date, little research has focused on what factors constitute a quality of life (QOL) among Latin American families with a member who is intellectually disabled. METHOD: Total 180 Latin American families cooperated in a participative research project. During 18 months, the families and a team exchanged information about their QOL by means of questionnaires and grids that the families analysed and completed at their homes. RESULTS: In Latin America, families attribute utmost importance to interpersonal relations and emotional well-being. In addition, results identified a number of QOL domains and indicators reflective of family-centred QOL among Latin American families. A tool with 42 indicators grouped in six areas was obtained. CONCLUSIONS: Quality of life is a concept that has meaning and structure which varies considerably from culture to culture. A topologic QOL model is presented to facilitate the cross-cultural understanding of the QOL construct.

Attitude↗

PubMed2006

A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia.

BACKGROUND: An investigation of the clinical morbidity and genetic profiles of individuals with Prader-Willi syndrome (PWS) in Western Australia (WA) was undertaken as part of a wider study into the effects of intellectual disability (ID) on the life course of individuals. METHODS: All persons with a diagnosis of PWS were identified from the records of the Disability Services Commission of WA (DSC). The DSC client files formed the main data source, and were supplemented by information from other state health data sets. The analysis was retrospective and quantitative in nature. RESULTS: A total of 56 individuals were identified, 10 of whom exhibited normal methylation patterns and so were analysed separately (PWS-like). The ages of the PWS group ranged from 0.9 to 48.3 years, with six persons deceased. Most people with PWS (76%) had mild or moderate ID, and 70% lived in their family home. The birth prevalence of the disorder was 1 in 29 500 births. Respiratory disorders, dentistry and gastrointestinal disorders were common reasons for hospital admission, with epilepsy or convulsions also reported at moderate frequency. The PWS-like group shared many clinical features in common with PWS patients, the principal exceptions being hypotonia and feeding difficulties in infancy. CONCLUSIONS: The estimated birth prevalence of PWS was lower than expected; however, the case ascertainment method may have excluded some individuals. Older people with PWS were generally living in sheltered accommodation. As the cohort ages, demand for places in similar accommodation will increase, adding to the existing burden on service providers. Substantial future increases in the use of medical services and hospital-based care also are predicted with the onset of age-associated disorders.

Adolescent↗

PubMed2006

The acquisition of stimulus equivalence in individuals with fragile X syndrome.

BACKGROUND: Few studies have employed stimulus equivalence procedures to teach individuals with intellectual disabilities (IDs) new skills. To date, no studies of stimulus equivalence have been conducted in individuals with fragile X syndrome (FXS), the most common known cause of inherited ID. METHOD: Five adolescents with FXS were taught basic math and geography skills by using a computerized stimulus equivalence training programme administered over 2 days in 2-h sessions. RESULTS: Four of the five participants learned the math relations, with one participant demonstrating stimulus equivalence at post-test. Three of the five participants learned the geography relations, with all three of these participants demonstrating stimulus equivalence at post-test. CONCLUSIONS: These data indicate that computerized stimulus equivalence procedures, conducted in time-limited sessions, may help individuals with FXS learn new skills. Hypotheses concerning the failure of some participants to learn the training relations and to demonstrate stimulus equivalence at post-test are discussed.

Adolescent↗

PubMed2006

Prevalence of gastrointestinal disorders in adult clients with pervasive developmental disorders.

BACKGROUND: In clients with pervasive developmental disorders (PDD), some authors have noticed the presence of gastrointestinal disorders and behavioural disorders. An augmented prevalence of different histological anomalies has also been reported. The aim of our study is to highlight the prevalence of gastrointestinal disorders in this adult with PDD sample and to demonstrate the importance of accurate evaluation of gastrointestinal disorders in clients with PDD. METHODS: The present comparative study involved 118 clients. Our research was motivated by the clinical observation that behavioural disorders sometimes disappeared with administration of anti-gastric acid or anti-ulcerous medications. It focused on two samples of clients with intellectual disability - those with associated PDD and those without. The presence of gastrointestinal disorders was assessed retrospectively on the basis of hospital records. RESULTS: The prevalence of gastrointestinal disorders reported in clinical files was 48.8% in clients with PDD, as compared with 8.0% in non-PDD clients (P < 0.00001). CONCLUSION: Gastrointestinal disorders, and especially gastro-oesophageal reflux, if neglected, may contribute to behavioural disorders in PDD clients. Moreover, gastrointestinal disorders may be considered as a feature of PDD. We highlight the fact that somatic disorders may coexist in persons with PDD.

Adult↗

PubMed2006

Comprehensive health assessments during de-institutionalization: an observational study.

BACKGROUND: People with intellectual disability (ID) leaving institutions pass through a transition stage that makes them vulnerable to inadequate health care. They enter into community care under general practitioners (GPs) who are often untrained and inexperienced in their needs. Specifically designed health reviews may be of assistance to both them and their new GPs as they go through that phase. METHODS: This research aimed to investigate the effectiveness of a specially designed health review, the comprehensive health assessment program (CHAP) health review, in a group of adults as they transitioned out of the care of the last institution for people with ID in Tasmania. There were 25 residents reviewed by their GPs. RESULTS: The CHAP reviews picked up a number of health conditions and stimulated health promotion activities. Some of the findings were: a high number of abnormal Body Mass Indexes (19/23), immunizations given (13/23), vision impairment reported (2/23), mental health issues recorded (4/23) and skin abnormalities described (17/23). There were 22 referrals made to other health professionals (Australian Hearing Service 4, dentists 3, optometrists 3, psychiatrists 2, neurologists 2, ophthalmologist 1, urologist 1, ultrasound 1, mammogram 1, family planning 1, physiotherapist 1, continence nurse 1 and respiratory physician 1). These were in addition to various requests for pathology. CONCLUSIONS: The CHAP health review was effective in identifying a number of health issues in the population of people with ID as they transitioned out of institutional care into the general community.

Adult↗

PubMed2006

Behaviour and emotional problems in toddlers with pervasive developmental disorders and developmental delay: associations with parental mental health and family functioning.

BACKGROUND: Behavioural and emotional problems occur at a high rate in children and adolescents with intellectual disability, often from a young age. Some studies have indicated that children and adolescents with autism present with even higher rates. Less is known about the presentation, development and family impact of these difficulties in young children with autism. This study aimed to explore these issues in toddlers with pervasive developmental disorders (PDDs), those with delay without a PDD, and their families. METHODS: Participants were 123 children aged 20-51 months, referred to a developmental assessment clinic. Parents completed a checklist on child behavioural and emotional problems, and individual questionnaires on family functioning, their own mental health, and stress in relation to parenting their child. The child's language and cognitive skills, adaptive functioning and behaviour were assessed by standardized measures. Measures were repeated 1 year postdiagnosis. Behavioural and emotional problems in young children with a PDD were compared with those in children with developmental delay without a PDD, and their impact on parental outcomes explored over time. RESULTS: Initial and follow-up measures of child behaviour and emotional problems, parent mental health problems, parent stress and family functioning were significantly correlated, providing some evidence of stability over time. Child emotional and behavioural problems contributed significantly more to mother stress, parent mental health problems, and perceived family dysfunction than child diagnosis (PDD/non-PDD), delay or gender. Compared with mothers, all fathers reported significantly less stress in relation to parenting their child. CONCLUSION: Results highlighted the importance of addressing emotional and behavioural problems in very young children with autism and/or developmental delay. The need for early support and intervention for mothers, fathers and families in this context was also evidenced. As research has shown that behavioural and emotional problems persist into adolescence and young adulthood, understanding of these issues in very young children and their parents has important implications for intervention and long-term outcomes.

Adult↗

PubMed2007

A multidisciplinary approach to the management of individuals with fragile X syndrome.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene (FMR1) and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet. METHODS: Twenty-four boys with FXS full mutation were recruited out of a larger group of 103 diagnosed in one centre over the past 10 years. Ear nose and throat, eye and cardiac examinations were performed in addition to routine cognitive, behavioural, neurological and speech and language assessments. RESULTS: The average IQ score was 49.8 +/- 20 (range 25-90). There were four patients (18%) with IQ above 70. Using DSM-IV, attention deficit hyperactivity disorder was diagnosed in five boys out of 22 examined (23%), while 32% were diagnosed with pervasive developmental disorder. The seizure frequency was 17%. A psychiatric disorder was diagnosed in six out of eight boys with electroencephalogram abnormalities (75%). Minimal conductive hearing loss was found in five (5/22) patients. There was significant delay in both expressive and receptive language skills. Ocular findings were refractive errors (13%) and strabismus (4.4%). Mitral valve prolapsus (MVP) was observed in 3/22 (13.7%) patients and aortic annulus dilatation was present in 2/22 (9%) patients. CONCLUSIONS: Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of 'high-functioning' full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.

Aortic Diseases↗

PubMed2005

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

Cri du Chat syndrome (CdCs) is a well-defined clinical entity, with an incidence of 1/15,000 to 1/50,000. The critical region for CdCs has been mapped to 5p15, with the hallmark cat-like cry sublocalized to 5p15.3 and the remaining clinical features to 5p15.2. We report findings in a subject with a de novo t(5;7)(p15.2;p12.2) and an inv(3)(p24q24), who was found to have a cryptic microdeletion in the critical region for CdCs detected using a 1-Mb genomic microarray. In addition to 5p deletion, the proband had a de novo single clone loss at the 3p breakpoint of inv(3)(p24q24) and a familial single clone deletion at 18q12. Deletions were confirmed using microsatellite analysis and fluorescence in situ hybridization. The 5p deletion encompasses approximately 3 Mb, mapping to the border between bands 5p15.2 and 5p15.31. The single clone deletion on chromosome 3 maps to 3p24.3-3p25, for which there is no known phenotype. The clinical features of our proband differ from the characteristic CdC phenotype, which may reflect the combined effect of the two de novo microdeletions and/or may further refine the critical region for CdCs. Typical features of CdCs that are present in the proband include moderate intellectual disability, speech, and motor delay as well as dysmorphic features (e.g. broad and high nasal root, hypertelorism, and coarse facies). Expected CdCs features that are not present are growth delay, microcephaly, round facies, micrognathia, epicanthal folds, and the signature high-pitched cry. Behavioral traits in this subject included autism spectrum disorder, attention-deficit hyperactivity disorder, and unmanageable behavior including aggression, tantrums, irritability, and self-destructive behavior. Several of these behaviors have been previously reported in patients with 5p deletion syndrome. Although most agree on the cat-cry critical region (5p15.3), there is discrepancy in the precise location and size of the region associated with the more severe manifestations of CdCs. The clinical description of this proband and the characterization of his 5p deletion may help to further refine the phenotype-genotype associations in CdCs and autism spectrum disorder.

Adolescent↗

PubMed1995

Therapy methods for cerebral palsy.

OBJECTIVE: Current approaches to therapy for cerebral palsy tend to be child-focussed and claim functional improvements. Such approaches lead to demands for more therapy and more services as the solution for problems associated with cerebral palsy. This report suggests an alternative approach. METHODOLOGY: The literature on therapy methods for cerebral palsy is reviewed and compared with the literature on early intervention for children with intellectual disabilities. RESULTS: The claims for functional improvements resulting from therapy methods cannot be substantiated. The literature on early intervention for children with cognitive impairments indicates a shift in emphasis from the child's impairments to the whole child, the family and the wider community. CONCLUSIONS: Demands for more and better therapy are, at best, simplistic and tend to detract from the real needs of the child and family. An ongoing ecological approach is more likely to produce positive outcomes.

Cerebral Palsy↗

PubMed1996

Neonatal subgaleal haematoma: associated risk factors, complications and outcome.

OBJECTIVE: To describe the obstetric and perinatal factors, in particular the method of delivery, associated with development of a subgaleal haematoma (SGH) and to determine the outcome of survivors with this type of birth trauma. METHODOLOGY: Perinatal and obstetric data were retrospectively reviewed for 37 infants admitted to the neonatal unit of the sole tertiary paediatric referral hospital in Western Australia with an SGH, over a 24 year period from 1970 to 1993. These data were compared to data for all Western Australian births. The long-term outcome was obtained through medical and private paediatric records for 26 of these infants. RESULTS: All except one of the neonates had instrumental deliveries; 89% had a vacuum extractor applied to the head at some stage of delivery compared to 10% of the general population of births in Western Australia. There was also a significantly increased risk of failure of attempted vacuum extraction. Of the cases where a vacuum extraction was attempted, 45% also had forceps applied to the head. Coagulopathy was associated with the severity of the SGH. There was also a high frequency of occurrence (40%) of associated head trauma such as intracranial haemorrhage, skull fracture and cerebral oedema, as well as neonatal encephalopathy (73%). The occurrence of these associated features did not correlate significantly with the severity of SGH. Minor complications of SGH included jaundice and facial bruising. There was an excess mortality associated with SGH; however, the long-term outcome for neonatal survivors with this disorder was good. None of the cases studied subsequently developed cerebral palsy or intellectual disability, and minor neurological sequelae only were documented in four infants. CONCLUSIONS: SGH is an uncommon type of birth trauma, and is associated with delivery or attempted delivery by vacuum extraction. The most commonly associated clinical problems were hypovolaemia and coagulopathy. The long-term outcome for neonates with this condition is good.

Australia↗

PubMed2005

Fibrin glue in the management of corneal melt.

Human fibrin glue aids physiological healing thereby reducing corneal vascularization and scarring compared with cyanoacrylate tissue adhesive. A 40-year-old intellectually disabled man with a corneal melt is reported who was managed successfully using human fibrin glue, alleviating the need for emergency penetrating keratoplasty.

Adult↗

PubMed2006

Introduction of an intensive case management style of delivery for a new mental health service.

Mental health case management emerged in the 1960s in response to the shift in focus from inpatient to community care. Case management per se had been used by other service industries for some time previously, particularly those involved with people with intellectual disability. The term case management describes a range of service approaches and strategies in mental health rather than a single model of care. One method of delivering case management is with an intensive model of care. Intensive case management is differentiated from other forms of case management through factors like a smaller caseload size, team management, outreach emphasis, a decreased brokerage role, and an assertive approach to maintaining contact with clients. Research has demonstrated that case management, in particular, intensive case management, can improve clients' and families' experience of mental health services but only when introduced and used for appropriately targeted client populations and suitably resourced. Determining which model of case management best suits the client population and how to introduce it is a major challenge for any mental health service. With a focus on intensive case management, a review of this process is outlined.

Attitude to Health↗

PubMed1999

The use of glass ionomer in special needs patients.

Placement of restorations for patients who are physically or intellectually disabled or mentally ill can pose considerable difficulties for the general practitioner. Access to the oral environment is often limited and patient tolerance and concentration may be reduced to rather brief periods of time. Oral hygiene routines may be less than ideal leading to a high caries rate. Enamel surfaces which do not normally become carious can develop broad but shallow lesions with a poorly defined outline. Selection of the most suitable restorative material will be important, with longevity of the restoration as the prime consideration. Other factors such as access, isolation of the lesion and patient co-operation must also be taken into account. Also, forces acting on restorative materials may be less than usual due to poor occlusion, teeth opposing dentures or being completely unopposed. Restoration by indirect techniques will often not be possible so the choice will be limited to the three plastic restorative materials normally used in restorative dentistry: amalgam, resin composite and glass ionomer. As a result of clinical experience it is suggested that glass ionomer will often be the material of choice. This paper describes five years experience with the resin-modified glass ionomers in an institutional practice which is limited to patients with special needs. Clinical significance Placement of restorations, with a reasonable expectation of longevity, can pose considerable problems for the patient with special needs. Resin-modified glass ionomer is a useful alternative material and has been placed with a high degree of success over a period of five years.

Dental Care for Persons with Disabilities↗

PubMed1998

Long-term follow up of 69 patients treated for optic pathway tumours before the chemotherapy era.

AIM: To analyse the long-term results of conservative management with radiotherapy in patients with optic pathway tumours. DESIGN: All 69 patients were symptomatic at diagnosis and most neoplasms involved the optic chiasm and hypothalamus. RESULTS: At 10 years, overall survival and progression free survival were 83% and 65.5%, respectively. After radiotherapy, vision improved in 18 patients and remained stable in 29 other patients. Cerebrovascular complications occurred in nine of 53 patients treated with radiotherapy after a median interval of two and a half years. These complications were five times more frequent in patients with neurofibromatosis type 1 (NF1). Severe intellectual disabilities were present in 18 children, most of whom underwent irradiation at a very young age (median age, 4 years). IMPLICATIONS: Radiotherapy is a valuable treatment in terms of tumour response, visual outcome, and progression free survival. However, in young children and in patients with NF1, major sequelae are encountered and new treatment strategies should be proposed for these patients.

Adolescent↗

PubMed2005

Rett syndrome: clinical review and genetic update.

Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant. The relationship between MECP2 and CDKL5, and whether they cause RS through the same or different mechanisms is unknown, but is worthy of investigation. Mutations in MECP2 appear to give a growth disadvantage to both neuronal and lymphoblast cells, often resulting in skewing of X inactivation that may contribute to the large degree of phenotypic variation. MeCP2 was originally thought to be a global transcriptional repressor, but recent evidence suggests that it may have a role in regulating neuronal activity dependent expression of specific genes such as Hairy2a in Xenopus and Bdnf in mouse and rat.

Animals↗