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Results for “Intellectual Disability”

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PubMed1993

Behaviour intervention.

The major problem with assessing behaviour problems in people with intellectual disability is the distortion in the presentations by this group. The clinician should consider early assessment of his or her patient by a behaviour intervention team. Psychotropic medication should be limited to situations where there is a clear benefit to the patient. Ongoing review and critical assessment of all treatments usually enables one to arrive at the best option for the individual.

Aggression↗

PubMedDate not supplied

Use of static picture prompts versus video modeling during simulation instruction.

The purpose of this study was to compare the effectiveness and efficiency of static picture prompts and video modeling as classroom simulation strategies in combination with in vivo community instruction. Students with moderate intellectual disabilities were instructed in the tasks of withdrawing money from an ATM and purchasing items using a debit card. Both simulation strategies were effective and efficient at teaching the skills. The two simulation strategies were not functionally different in terms of number of trials to acquisition, number of errors, and number of instructional sessions to criterion.

Adolescent↗

PubMed2002

Behavioural aspects of Pollitt syndrome: a 32-year follow-up of a case described by R. J. Pollitt and colleagues in 1968.

In 1968, R. J. Pollitt and colleagues described a syndrome characterized by abnormally brittle, sulphur-deficient hair (trichothiodystrophy), intellectual disability (ID) and growth retardation. One of the two siblings originally described by the above authors has recently been re-assessed by the present authors following a referral for advice about ritualistic behaviours. Her current clinical features are described, and the literature concerning trichothiodystrophy and ID is summarized.

Abnormalities, Multiple↗

PubMed2007

Short form of the developmental behaviour checklist.

A 24-item short form of the 96-item Developmental Behaviour Checklist was developed to provide a brief measure of Total Behaviour Problem Score for research purposes. The short form Developmental Behaviour Checklist (DBC-P24) was chosen for low bias and high precision from among 100 randomly selected item sets. The DBC-P24 was developed from epidemiological data in the first three waves of the Australian Child to Adult Development study, and cross validated for groups with autism, fragile X, Prader-Willi, and Williams in this longitudinal study and in cross sectional Dutch, English, and Finnish samples of young people with intellectual disability. The DBC-P24 has low bias and high precision in cross-validation samples and achieves high sensitivity and specificity to full DBC-P based caseness decisions.

Adolescent↗

PubMed1997

Psychiatric illness in mental retardation: an update on pharmacotherapy.

According to the DSM-IV, all types of psychiatric disorders can be observed in mentally retarded subjects, with prevalence estimated to be three or four times higher than in the general population. Clinical features, longitudinal course and triggering factors are influenced by the characteristics of the intellectual disability. The aim of this paper is to discuss the specificity of the psychopharmacological therapy in mental retardation (sensitivity to specific psychotropic drugs, incidence of side effects, predictive criteria for evaluating risk factors, etc.) and to propose an update in the pharmacotherapy in the most important psychiatric disorders (mood disorders, psychotic disorders, behavioral disorders, anxiety disorders, attention deficit disorders with or without hyperactivity.

Antipsychotic Agents↗

PubMed1992

The family v. the family court: sterilisation issues.

Parents as guardians of minor children have the right and duty to give and withhold consent to medical treatment when the treatment is neither routine nor urgent. Parental authority, however, is not absolute and dwindles as the child gradually matures. In general, teenagers can give consent to medical treatment if they understand the nature and consequences of the proposed treatment. The diminution of parental authority is based on the premise that the child will eventually become autonomous. In cases where a sterilisation or hysterectomy procedure is being considered for a severely intellectually disabled teenager the question of consent is most contentious. Should this power belong to parents or the state? This paper examines some recent Family Court cases concerning this issue and also addresses questions about human rights, medical autonomy and the role of the Family Court. Finally, a proposal for an alternative means of decision-making in these cases is briefly outlined.

Adolescent↗

PubMed2001

[From gene to disease; fragile X-syndrome: hereditary mental retardation due to a developmental gene].

The fragile X syndrome is the most common cause of familial intellectual disability. The identification of the 'fragile-X mental retardation' (FMR1) gene disclosed a novel genetic mechanism: an intergenerational instable cytosine-guanine-guanine (CGG) repeat leading to the absence of FMR1 protein above a threshold of 200 repeats and, subsequently, leading to familial mental retardation.

Adolescent↗

PubMedDate not supplied

Classifying mental retardation and specific strength and deficit areas in severe and profoundly mentally retarded persons with the MESSIER.

The MESSIER, a measure of social and communication skills and the Vineland Social Maturity Scale were administered to 618 severe and profoundly mentally retarded adults. The goal of the study was to establish the potential utility of the MESSIER for classifying level of intellectual disability in this group. Comparing MESSIER scores to previously established DSM-IV-TR diagnosis, 86% of the severe and 80% of the profoundly mentally retarded persons were correctly classified. The implications of these data in using the MESSIER for classification and treatment planning are discussed.

Adolescent↗

PubMed1998

Aggressive behaviour in intellectually challenged patients with epilepsy treated with lamotrigine.

PURPOSE: Lamotrigine (LTG) is a valuable addition to the medical management of epilepsy with wide spectrum of efficacy and good outcomes for quality of life. We report the emergence of a syndrome of aggressive behavior provoked by LTG in patients with epilepsy and intellectual challenge. METHODS: On recognition of a tendency to aggression in intellectually challenged patients whose epilepsy was treated with LTG, a survey was conducted of those from centers specializing in management of patients with intellectual disability who were treated with LTG. Responses to LTG were sought and patient's behavioral profiles were determined. RESULTS: Nineteen patients were identified (16 men, 3 women, aged 17-54 years). Five patients discontinued LTG due to unprovoked aggressive behavior subsequent to its use; 2 had aggressive behavior sufficient to justify discontinuation of LTG but required reintroduction to control the epilepsy; 1 required reduction in LTG dosage; 1 had aggression that responded to psychiatric intervention; and 1 had aggression unrelated to LTG. Four patients had behavioral problems other than aggression, 4 had no change in behavior, and the behavior of 1 was improved by LTG treatment. CONCLUSIONS: LTG may provoke aggressive behavior and violence in intellectually handicapped patients with epilepsy, which may limit its use in such patients. Acknowledgment of the potential for such disturbance justifies greater surveillance of these patients and early discontinuation of LTG if necessary.

Adolescent↗

PubMed1997

Mental retardation: a review of the past 10 years. Part I.

OBJECTIVE: To review the literature over the past decade on mental retardation, particularly as regards its definition, prevalence, major causes, and associated mental disorders. METHOD: A computerized search was performed for articles published in the past decade, and selected papers were highlighted. RESULTS: The study of mental retardation has benefited considerably by advances in medicine generally and by developments in molecular neurobiology in particular. Increasing awareness of psychiatric comorbidity in the context of intellectual disability highlights the need for studies of the phenomenology and treatment of mental disorders in this population. CONCLUSIONS: Although the study of developmental disorders has advanced significantly over the past decade, considerable work remains. Mental retardation is a model for the utility of the biopsychosocial approach in medicine.

Adolescent↗

PubMed2004

Urinary compounds in autism.

BACKGROUND: Although earlier claims to identify specific compounds in the urine of people with autism had been discredited, it was subsequently suggested that there might be biochemical characteristics that were specific to early childhood, particularly in those who also did not have a severe degree of intellectual disability This study was to establish whether autism might have a distinctive chromatographic profile on urinary analysis. METHOD: Thirty-four prepubertal boys with autism were matched with two groups of boys without autism--one on ability and chronological age and the other on chronological age alone, being within the normal range of ability. Laboratory analysis of their urine samples was carried out blind as to the clinical diagnosis. RESULTS: The analysis correctly identified 53% of the autism group as against misidentifying 33% and 18% of the other two groups. When children with a severe learning disability (both with and without autism) were excluded from the comparisons, the laboratory then identified 77% of the 13 boys left in the autism group and misidentified 8% and 18% of the other two groups. CONCLUSIONS: The results would support the idea of a biological marker in prepubertal children and that it may be absent in, or obscured by the presence of severe LD.

Autistic Disorder↗

PubMed2006

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

We describe three families with X-linked mental retardation, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin-Lowry syndrome (CLS). In two families, the clinical diagnosis had been nonsyndromic X-linked mental retardation. In the third family, although CLS had been suspected, the clinical features were atypical and the degree of intellectual disability much less than expected. These families show that strict reliance on classical clinical criteria for mutation testing may result in a missed diagnosis. A less targeted screening approach to mutation testing is advocated.

Amino Acid Sequence↗

PubMedDate not supplied

[Molecular pathogenesis of fragile X syndrome].

The fragile X syndrome is an X-linked genetic disorder; manifesting primarily as intellectual disability. The disease is caused by the absence of functional FMRP, a protein encoded by the FMR1 gene. The expansion of trinucleotide repeats within the first exon of the gene contributes to most cases of the syndrome. This review summarizes the present knowledge of the relationship between the molecular defect in the FMR1 gene and the clinical phenotype associated with disease.

Chromosome Fragility↗

PubMed1999

Proxy respondents and the reliability of the Quality of Life Questionnaire Empowerment factor.

Previous studies have questioned the reliability of Quality of Life Questionnaire (QOL-Q) Empowerment scores, and reported marked disagreement between consumers' self-reports and proxy data from staff informants. The present study examined agreement between consumer self-reports and proxy responses from community living staff for 63 adults with intellectual disability. Substantial positive correlations between consumers and staff were evident No significant difference was found between total QOL-Q Empowerment scores for self- or staff reports. It was concluded that the QOL-Q Empowerment factor is sufficiently reliable for use both by self-report and proxy respondents. Even so, proxy data are not a substitute for consumer self-reports and the two data sources should not be treated as being interchangeable.

Adolescent↗

PubMed2005

Snoezelen multi-sensory environments: task engagement and generalization.

These experiments explored whether behavioral improvements observed during Snoezelen OT treatment sessions carried over to two different settings for three people with moderate/severe intellectual disability, autism and severe challenging behaviors. Experiment 1 explored engagement during a functional task immediately following the treatment sessions while experiment 2 explored changes in the frequencies of challenging behaviors on the days after treatment sessions. Investigators found carryover for two of the three participants to both post-session engagement as well as to the daily frequency of challenging behaviors on days following the OT sessions.

Adult↗

PubMed2005

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation.

Complex chromosome rearrangements (CCRs) are extremely rare but often associated with mental retardation, congenital anomalies, or recurrent spontaneous abortions. We report a de novo apparently balanced CCR involving chromosomes 3 and 12 and a two-way translocation between chromosomes 11 and 21 in a woman with mild intellectual disability, obesity, coarse facies, and apparent synophrys without other distinctive dysmorphia or congenital anomalies. Molecular analysis of breakpoints using fluorescence in situ hybridization (FISH) with region-specific BAC clones revealed a more complex character for the CCR. The rearrangement is a result of nine breaks and involves reciprocal translocation of terminal chromosome fragments 3p24.1-->pter and 12q23.1-->qter, insertion of four fragments of the long arm of chromosome 12: q14.1-->q21?, q21?-->q22, q22-->q23.1, and q23.1-->q23.1 and a region 3p22.3-->p24.1 into chromosome 3q26.31. In addition, we detected a approximately 0.5-Mb submicroscopic deletion at 3q26.31. The deletion involves the chromosome region that has been previously associated with Cornelia de Lange syndrome (CdLS) in which a novel gene NAALADL2 has been mapped recently. Other potential genes responsible for intellectual deficiency disrupted as a result of patient's chromosomal rearrangement map at 12q14.1 (TAFA2), 12q23.1 (METAP2), and 11p14.1 (BDNF).

Adult↗

PubMed2006

Short-term memory deficits are not uniform in Down and Williams syndromes.

Neuropsychological investigation of the development of the mnesic function in mental retardation has primarily focused on evaluating short-term memory (STM). Studies have often documented a reduced verbal short-term memory span in individuals with mental retardation and with Down syndrome in particular, compared to groups of mental age-matched controls. However, recent evidence suggests that verbal short-term memory is not equally impaired in all individuals with mental retardation. Findings in children with Williams syndrome are particularly relevant in this regard. Also, data concerning STM for visual information suggest that visual-object and visual-spatial working memory may be differently compromised in people with mental retardation. In particular, individuals with Williams syndrome exhibit specific difficulties in visual-spatial but not in visual-object working memory tasks compared to typically-developing children matched for mental age. Instead, people with Down syndrome show reduced performance in both visual-spatial and visual-object tests. Taken together, these results reinforce the view that intellectual disability is not a unitary condition characterized by homogeneous slowness of cognitive development but a variety of conditions in which some cognitive functions may be more disrupted than others. The finding that the working memory deficit in individuals with Williams and Down syndrome may be qualitatively differentiated also supports the hypothesis that it is not simply a manifestation of general cognitive impairment but, rather, the expression of a specific deficit of a discrete cognitive ability.

Amnesia↗

PubMed1998

The Checklist of Challenging Behaviour and its relationship with the Psychopathology Inventory for Mentally Retarded Adults.

The Checklist of Challenging Behaviour (CCB) was developed to survey the prevalence of challenging behaviour among people with intellectual disability. It describes 32 behaviours, and data are collected on the frequency, management difficulty and severity of these states. The present paper reports on the relationship between challenging behaviour (as measured by the CCB) and mental health (as measured by the Psychopathology Inventory for Mentally Retarded Adults). In addition, it discusses the differences between the two groups of clients used in the study, i.e. hospital and community subject groups, in terms of challenging behaviour and mental health.

Adult↗