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 1,189 records · Page 66Linked to original sources

PubMed2005

Social outcomes in adulthood of children with intellectual impairment: evidence from a birth cohort.

BACKGROUND: Social Policy for people with intellectual disabilities (ID) continues to evolve, but little is known about the lives to which such policies are applied. We aimed to use a prospective follow-up of a British birth cohort to identify children with mild and more severe intellectual impairment, and compare a range of social outcomes in adulthood with people in the rest of the cohort. METHOD: We used data from the MRC National Survey for Health and Development. Intellectual impairment was identified by intelligence tests and educational history. Adult outcome measures included employment and social class, education, marriage and children, home ownership, social networks and community use. RESULTS: We identified 111 people with mild intellectual impairment (2.7%) and 23 with severe intellectual impairment (0.6%) at age 15/16. By the age of 43, there were 52 people remaining in the mild impairment group and 14 in the severe impairment group. In adulthood those with intellectual impairment enjoyed contact with friends and family, and joined in informal social activities. Although the mild intellectual impairment group were less likely to attain the following social outcomes than people with normal intellectual functioning, 67% had jobs, 73% were married, 62% had children and 54% owned their own homes. 12% participated in adult education. People with more severe intellectual impairment were less likely to attain these outcomes. CONCLUSIONS: These outcomes highlight issues in current social policy and suggest efforts should be directed particularly towards promoting educational opportunities and developing social inclusion for people with ID.

Achievement↗

PubMed2002

Research and literature on sex offenders with intellectual and developmental disabilities.

The present paper sets out to review the literature on several aspects of sex offenders with intellectual and developmental disabilities, including the relationship between sex offending and developmental disabilities, the prevalence and characteristics of sex offenders in this client group, assessment, treatment, and outcome of intervention. Several important variables were identified as influencing the disparate results found in different prevalence studies. These include variations in inclusion criteria, differences in the source of the sample, differences in determination of IQ, the impact of deinstitutionalization, and the effect of changing social and penal policies in the area where studies have been conducted. Although some studies have suggested an increasing incidence, there is no clear evidence for the over- or under-representation of people with developmental disabilities amongst sex offenders. One of the main methodological flaws in several reports listing the characteristics of sex offenders is that considerations are based on clinical samples. Therefore, there is no control group to show that these characteristics do not exist in other samples of individuals with intellectual disability (ID). It does appear that sex offenders with ID are more likely to commit offences across categories and to be less discriminating in their victims. There may also be an association with sexual abuse in childhood. The primary issue considered has been assessment of competency, in that people with ID are considered to be disadvantaged by the criminal justice process. While several authors have delineated the important areas for assessment, there are few assessment measures with robust psychometric properties. Pharmacological, behavioural, educational and cognitive treatments are reviewed. Several comprehensive treatments which include all of the aforementioned methods are also considered. Although most studies do not report particularly positive outcomes, several authors have found better outcomes with treatment lasting at least 2 years.

Cross-Sectional Studies↗

PubMed1996

Neurodevelopmental profile of Down syndrome in Chinese children.

OBJECTIVE: To give an overall appraisal of the clinical features of Down syndrome (DS) in Chinese children with emphasis on the neurodevelopmental outcome, and to compare the related complications with that of other races. METHODOLOGY: The records of 124 Chinese children with DS assessed at the Child Assessment Centre of the University Department of Paediatrics in the Duchess of Kent Children's Hospital from 1985 to 1993 were reviewed. RESULTS: Thirty-one per cent of patients had microcephaly. Eighty-five percent (33/39) when assessed in the first year of life had a developmental quotient (DQ) above 50 but only 29% (2/7) had DQ above 50 when assessed after the age of 5. Only two patients (1.6%) had epilepsy: infantile spasms (1) and Lennox-Gastaut syndrome (1). Hearing impairment was found in 45% of children with mild conductive hearing impairment being the most common. CONCLUSIONS: Chinese children with DS, when compared with other races, were similarly intellectually disabled, but were less likely to develop epilepsy.

Adolescent↗

PubMed2003

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.

PURPOSE OF REVIEW: Infantile spasms, mental retardation, autism, and dystonia represent disabling diseases for which little etiologic information is available. Mutations in the Aristaless related homeobox gene (ARX) have been found in patients with these conditions. This discovery provides important genetic information and may ultimately offer treatment options for these patients. RECENT FINDINGS: Recent work has demonstrated that mutations in ARX cause X-linked West syndrome, X-linked myoclonic epilepsy with spasticity and intellectual disability, Partington syndrome (mental retardation, ataxia, and dystonia), as well as nonsyndromic forms of mental retardation. Patients with these aforementioned diseases and ARX mutations were not reported to have brain imaging abnormalities. In contrast, mutations in ARX mutations have also been found in X-linked lissencephaly with abnormal genitalia, which typically includes severe brain malformations (lissencephaly, agenesis of the corpus callosum, and midbrain malformations), intractable seizures, and a severely shortened lifespan. ARX knockout mice manifest defects in overall neuroblast proliferation as well as selective abnormalities in gamma-aminobutyric acid-ergic interneuron migration. Consistent with these findings in mice, phenotype/genotype studies in humans suggest that truncating mutations cause X-linked lissencephaly with abnormal genitalia, and insertion/missense mutations result in epilepsy and mental retardation without cortical dysplasia. SUMMARY: Mutations in the homeobox gene, ARX, cause a diverse spectrum of disease that includes cognitive impairment, epilepsy, and in another group of patients severe cortical malformations. Although the precise prevalence of ARX mutations is unclear, ARX may rival Fragile X as a cause of mental retardation and epilepsy in males.

Animals↗

PubMed2005

Autism and mental retardation of young children in China.

OBJECTIVE: To understand the prevalence and rehabilitation status of autism and mental retardation in China. METHODS: Screening test and clinical assessment were conducted for the diagnosis of autism and mental retardation. The assessment included investigation of the histories of medical conditions and development of these two disorders, utilization and needs for the rehabilitation service, and related intellectual and behavioral appraisal. RESULTS: Among the 7345 children investigated, the prevalence of autism disorder was 1.10 cases per 1000 children aged 2-6 years (95% CI=0.34 to 2.54), and the prevalence of mental retardation was 10.76 cases per 1000 children (95% CI=8.40 to 13.12). All the children suffering from autistic disorder were intellectually disabled, whereas 31.0% of the non-autism mental retardates had other disabilities. The medical conditions prior to birth and perinatal period were important potential factors for autism. Half of the autistic children and 84% of the children with non-autism mental retardation had never received any rehabilitative service. CONCLUSIONS: The prevalence of autistic disorder in children aged 2-6 years in Tianjin is rather high. It is urgent to improve the status of the autistic and intelligently disabled young children in China. In order to upgrade the level of early diagnostic and improve the intervention to autism and mental retardation, public awareness and training courses should be heightened.

Autistic Disorder↗

PubMedDate not supplied

The reliability of the Scale for the Evaluation and Identification of Seizures, Epilepsy, and Anticonvulsant Side Effects-B (SEIZES B).

The use of anti-epileptic medications (AEDs) is much higher in individuals with intellectual disabilities than in the general population. As many of these individuals rely on such medications, clinicians should consider psychometrically sound instruments for assessing adverse side effects of these medications as one aspect of routine clinical practice. The Scale for the Evaluation and Identification of Seizures, Epilepsy, and Anticonvulsant Side Effects-B (SEIZES B) was developed as a means to identify side effects specific to AEDs. The authors conducted a preliminary evaluation of the inter-rater and test-retest reliability of the SEIZES B on an adult population with developmental disabilities. The SEIZES B had moderately high stability across raters and adequate stability over time. Implications of these data for future research and practice are discussed.

Adult↗

PubMed2006

A multiple case study of verbal short-term memory in velo-cardio-facial syndrome.

BACKGROUND: Velo-cardio-facial syndrome (VCFS, 22q11.2 deletion) is characterized by severely delayed language development. The current study explored the integrity of verbal short-term memory (STM), a cognitive function critically involved in language development, in eight children with VCFS. METHODS: Using a multiple case study design, we presented a series of STM tasks exploring immediate serial recall for word and non-word lists to eight children with VCFS (aged 8-12 years) and to chronological-age-matched control groups. A first task assessed the integrity of phonological coding in verbal STM by comparing recall for phonologically similar and dissimilar words. Subsequently, the interaction between verbal knowledge and STM capacity was investigated by comparing recall for high- and low-imageability words, for high- and low-frequency words, and for words and non-words. A final task assessed short-term serial order recognition for digit sequences. RESULTS: When computing the number of items recalled in the word recall tasks, independently of their serial position, only one child presented consistent difficulties. Short-term recall of non-words was normal in each child. Phonological similarity and verbal knowledge influenced STM performance to a similar extent in children with VCFS and controls. On the other hand, when applying a strict serial recall criterion, difficulties with the word and non-word recall tasks were observed in most children. Half of the patients were also impaired in the serial order recognition task. CONCLUSIONS: Despite mild intellectual disability, it is possible for short-term retention capacities for verbal item information to be at an age-appropriate level in VCFS. However, STM for serial order information could be impaired more specifically.

Child↗

PubMed1994

Long-term follow-up of young children with brain tumors after irradiation.

PURPOSE: Young children with brain tumors are at high risk of developing late sequelae after curative radiotherapy. A retrospective study was undertaken to determine the frequency and severity of neurological deficits, endocrine dysfunction, and intellectual disabilities. METHODS AND MATERIAL: One hundred and fifty-six children age < or = 3 years were treated between 1952 and 1986 with radiotherapy. Of the 57 survivors, 47 had surgery, 12 chemotherapy and 24 children received cranio-spinal radiotherapy. Late radiation side effects were assessed with a clinical examination, blood tests and an interview. RESULTS: The median follow-up was 13 years and the actuarial survival at 5 and 10 years was 49% and 44%, respectively. No, or only a mild, handicap was noted in 24 patients, while 21 had moderately severe and 16 severe disabilities. Children with supratentorial tumors had more abnormal neurological findings compared to those with infratentorial malignancies (p < 0.001). Eighty percent of children had endocrine abnormalities, which were more marked in children with parasellar tumors (p < 0.001). Twenty-one children were mentally retarded. In a multivariate analysis epilepsy emerged as the only significant variable independently associated with poor cognitive function. CONCLUSION: Long-term morbidity was found to be disabling in 58% of the surviving children. These findings encourage the development of treatment strategies designed to reduce toxicity.

Adolescent↗

PubMed2006

The cognitive and behavioural phenotype of Roifman syndrome.

BACKGROUND: Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism. So far, six cases, all boys, have been reported in the literature. Roifman postulated that the syndrome may be due to a mutation in an X-linked gene or an autosomal gene giving rise to a sex-limited trait, but the definitive pathogenetic mechanism has still not been elucidated. Very little is known about the cognitive and behavioural phenotype of Roifman syndrome and no standardized measures of cognitive abilities have been reported. METHODS: We report the seventh case of a boy with Roifman syndrome and present the first systematic documentation of the cognitive and behavioural phenotype of an individual with the syndrome. RESULTS: In spite of having been reported as appearing intellectually 'able', formal evaluation showed very significant intellectual disability and neuropsychological impairment across cognitive domains. CONCLUSIONS: The findings suggest that Roifman syndrome may be an example of an X-linked mental retardation syndrome (XLMRS).

Child↗

PubMedDate not supplied

Representation of international authorship across prominent journals in the field of mental retardation.

This article is a reflection of international publication trends across prominent journals in the field of mental retardation. Journals reviewed were the Journal of Applied Behavior Analysis, Journal of Intellectual Disability Research, Mental Retardation, and Research in Developmental Disabilities. Percentage of authors from the United States (US) and other countries were evaluated. US authors represented 84-91% in US journals, while US representation in foreign journals was much lower at 21%. The implications of these findings are discussed.

Authorship↗

PubMed1999

Capacity to make health care decisions: its importance in clinical practice.

BACKGROUND: Assessment of capacity plays a pivotal role in determining when decisions need to be made on behalf of an individual. It therefore has major clinical management implications for health care professionals and civil liberties implications for the person concerned. In many countries, there is a presumption that adults have the capacity to make health care decisions. However, in persons with a mental disability, capacity may be temporarily or permanently impaired. METHODS: A selective review is presented which considers: (i) the broad approaches taken to determining capacity; (ii) the abilities commonly assessed in determining capacity; and (iii) the principles underlying health care decision-making for adults who are without capacity. RESULTS: Capacity is a functional concept, determined by the person's ability to understand, retain, and weigh up information relevant to the decision in order to arrive at a choice, and then to communicate that choice. We have reviewed the studies that examined decision-making abilities in people with dementia, chronic mental illness or intellectual disabilities. Approaches to decision-making in adults who lack capacity include: anticipatory decisions made through advance health care statements or decisions by proxy based on 'best interests' or 'substituted judgement'. CONCLUSIONS: The understanding of clinical and legal aspects of capacity is still developing. This paper examines current concepts of capacity and decision-making on behalf of those without capacity. We propose a framework, in line with current ethical and legal guidelines, as an aid to clinicians when they are seeking consent for a health care intervention.

Adult↗

PubMed2006

Generalized use of a handheld prompting system.

This study determined the effectiveness of a commercially produced handheld computer, as a prompting system in facilitating the generalization and increasing the probability of long-term maintenance of vocational skills by adolescents with moderate intellectual disabilities. Four students successfully used the system in learning a task and then generalized the use of the prompting system to complete increasingly more complex tasks. Task performance was maintained at a 100% level for up to 9 weeks.

Adolescent↗

PubMed2006

Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy.

We report here a case of a 20-year-old woman with facioscapulohumeral muscular dystrophy (FSHD). In this patient, the involvement of facial muscle had been present since early childhood, but obscured due to the complication of profound mental retardation. Epilepsy emerged at eight years of age. Symmetrical limb muscle weakness appeared at 15 years of age, which progressed such that she was wheelchair-bound at 18 years of age. An elevated serum creatine kinase, predominant involvement of hamstrings, scapular and abdominal muscles, as well as an impaired stapedial reflex at high tune, were compatible with the clinical features of FSHD. The diagnosis of 4q35-FSHD was confirmed by detection of a 10kb EcoRI fragment with a p13E-11 probe on a Southern blot. The intellectual disability in this patient was the most severe of all FSHD patients reported to date and has hindered a correct diagnosis. This entity should be included in the differential diagnoses for patients with muscular symptoms and accompanying mental retardation.

Adult↗

PubMed1999

Longitudinal course of behavioral and emotional problems in fragile X syndrome.

We describe a follow-up of a study of behavior and emotional problems in a cohort of young people with Fragile X syndrome over 7 years. The study demonstrates that there is substantial persistence of the overall level of behavior and emotional problems. However, there are changes in certain types of behavior. Scores on the "disruptive" subscale of the Developmental Behavior Checklist decline significantly, whereas those on the "antisocial" subscale increase significantly. These changes parallel those seen in a large epidemiological control sample of young people with intellectual disability due to other causes. Further, two individual behaviors that distinguished the Fragile X individuals from the control individuals in the original study, namely "shy" and "avoids eye contact," continue to do so 7 years later.

Adolescent↗

PubMed2026

Prominent Movement Disorders in RNU2-2-Related Spliceosomopathy.

Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed "RNUopathies." We analyzed genome sequencing data from 14 patients with undiagnosed pediatric movement disorders for pathogenic variants in snRNA genes. We identified recurrent de novo RNU2-2 variants (n.35A > G and n.4G > A) in two patients with intellectual disability, epilepsy, and hyperkinetic movement disorders. RNA sequencing of fibroblasts in one patient showed no characteristic transcriptomic signature. Spliceosomopathies should be considered in neurodevelopmental disorders and developmental and epileptic encephalopathies with hyperkinetic features.

Humans↗

PubMed2000

Association of a balanced chromosomal translocation (4; 12)(q21.3; q15), affective disorder and autism.

This case report describes a set of monozygotic twins with severe intellectual disability, autism and affective disorder with a balanced translocation between chromosomes 4 and 12. Their mother, who carries the same balanced translocation, had severe postnatal depression. The association between autism affective disorder and these chromosome break points has not been reported previously. The implications are discussed.

Adult↗

PubMed2006

A case of renal hypouricemia caused by urate transporter 1 gene mutations.

Hypouricemia is a common disorder in the general population. Herein, renal hypouricemia caused by human urate transporter 1 (hURAT1) gene mutations in a Japanese patient with intellectual disability is reported. She had compound heterozygous mutations in this gene (W258X and IVS2+1G>A), nevertheless, she showed no clinical manifestations such as urolithiasis and exercise-induced acute renal failure. Restriction enzyme analysis with HphI was useful to screen the IVS2+1G>A mutation in hURAT1 gene.

Adult↗

PubMed2005

Conceptual principles of quality of life: an empirical exploration.

BACKGROUND: Quality of life is a popular measure of outcomes and its widespread use has led to recent calls for a better understanding of the construct, emphasizing the need to build a substantial body of knowledge around what determines perceptions of life quality. Three widely reported and used conceptual principles are examined in this study. METHODS: Self-ratings of life quality and three likely determinants at an individual level (stress), an interactional level (social support) and a community level (neighbourhood belonging) were used. The study involved two groups of young adults from an urban community, one identified as having an intellectual disability (ID). RESULTS Young adults with ID rated their satisfaction with health significantly higher and intimacy and community involvement lower than the comparison group. Social support emerged as the strongest predictor of life satisfaction across both groups. CONCLUSION: The conceptual principles of subjective quality of life provide a useful framework to discuss findings and to stimulate further research.

Adolescent↗