The importance of understanding the behavioural phenotypes of genetic syndromes associated with intellectual disability

Behavioural phenotype research is of benefit to a large number of children with genetic syndromes and associated developmental delay. This article presents an overview of this research area and demonstrates how understanding pathways between gene disorders and behaviour can inform our understanding of the difficulties individuals with genetic syndromes and developmental delay experience, including self-injurious behaviour, social exploitation, social anxiety, social skills deficits, sensory differences, temper outbursts and repetitive behaviours. In addition, physical health difficulties and their interaction with behaviour are considered. The article demonstrates the complexity involved in assessing a child with a rare genetic syndrome.

Ethics in sexual behavior assessment and support for people with intellectual disability

Sexuality is an issue of equality, rights, and ethics, especially when it comes to the sexuality of people with intellectual and developmental disabilities. This paper offers a discussion of ethics related to the assessment and intervention supports of sexual behavior in people with intellectual and developmental disabilities. A brief history of sexuality and disability is presented. Issues of sexual abuse of people with intellectual and developmental disabilities and the laws related to sterilization, pornography, sexual rights, and consent are explored. Finally, specific ethical concerns related to intervention by behavior analysts in the realm of sexual behavior are examined.

Efficiency in the Enrollment Process for the South Carolina Intellectual Disability and Related Disabilities Waiver Program

The Intellectual Disability and Related Disabilities waiver has had many changes over the years and has evolved into a robust service package that can be a significant help to individuals who wish to remain in the community or at home but would otherwise require institutional level care. Due to the limited amount of funds, it was necessary to create a waiting list for individuals who wish to participate in the ID/RD Waiver program. This project was undertaken to assess if there were practical steps that could be taken to assist in reducing the time and cost involved in the ID/RD Waiver enrollment process.

Evaluation of a treatment program for individuals with an intellectual disability who have high risk behaviours

In the past two decades numerous programs have emerged to treat individuals with developmental disabilities who have sexual offending behaviours. There has, however been very few studies that systematically examine the effectiveness of long term treatment with this population. The present research examines the therapeutic outcomes of a multi-modal behaviour approach with six individuals with intellectual disabilities previously charged with sexual assault. The participants also exhibited severe behavioural challenges that included verbal aggression, physical aggression, destruction and self-injury. These six participants (5 males, 1 female) were admitted to a Long Term Residential Treatment Program (LTRTP), due to the severity of their behaviours and due to their lack of treatment success in other programs. Individualized treatment plans focused on the reduction of maladaptive behaviours and the enhancing of skills such as positive coping strategies, socio-sexual knowledge, life skills, recreation and leisure skills. The treatment program also included psychiatric, psychological, medical, behavioural and educational interventions. The participants remained in the Long Term Residential Treatment Program (LTRTP) program from 181 to 932 days (average of 1.5 years). Pre and post treatment evaluations were conducted using the following tools: frequency of target behaviours, Psychopathology Inventory for Mentally Retarded Adults (PIMRA), Emotional Problems Scale (EPS), Socio-Sexual Knowledge and Attitudes Assessment Tool (SSKAAT-R) and Quality of Life Questionnaire (QOL-Q). Recidivism rates and the need for re-hospitalization were also noted for each participant. By offering high levels of individualized interventions, all six participants showed a 37 % rate of reduction in maladaptive behaviours with zero to low rates of inappropriate sexualbehaviour, there were no psychiatric hospitalizations, and there was no recidivism for 5 of 6 participants. In addition, medication was reduced. Mental health scores on the PIMRA were reduced across all participants by 25 % and scores on the Quality of Life Questionnaire increased for all participants by an average of 72 %. These findings add to and build upon the existing literature on long term treatment benefits for individuals with a intellectual disability who sexually offend. By utilizing an individualized and multimodal treatment approach to reduce severe behavioural challenges, not only can the maladaptive behaviours be reduced, but adaptive behaviours can be increased, mental health concerns can be managed, and overall quality of life can be improved.

La inclusión social y laboral de las personas con discapacidad intelectual mediante los programas de empleo con apoyo : un reto para la Orientación. 'Social and labour inclusion of people with intellectual disability through supported employment programs : a challenge for guidance'.

Resumen tomado de la publicación. Con el apoyo económico del departamento MIDE de la UNED

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

The recent identification of multiple dominant mutations in the gene encoding β-catenin in both humans and mice has enabled exploration of the molecular and cellular basis of β-catenin function in cognitive impairment. In humans, β-catenin mutations that cause a spectrum of neurodevelopmental disorders have been identified. We identified de novo β-catenin mutations in patients with intellectual disability, carefully characterized their phenotypes, and were able to define a recognizable intellectual disability syndrome. In parallel, characterization of a chemically mutagenized mouse line that displays features similar to those of human patients with β-catenin mutations enabled us to investigate the consequences of β-catenin dysfunction through development and into adulthood. The mouse mutant, designated batface (Bfc), carries a Thr653Lys substitution in the C-terminal armadillo repeat of β-catenin and displayed a reduced affinity for membrane-associated cadherins. In association with this decreased cadherin interaction, we found that the mutation results in decreased intrahemispheric connections, with deficits in dendritic branching, long-term potentiation, and cognitive function. Our study provides in vivo evidence that dominant mutations in β-catenin underlie losses in its adhesion-related functions, which leads to severe consequences, including intellectual disability, childhood hypotonia, progressive spasticity of lower limbs, and abnormal craniofacial features in adults

UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.

Substance abuse by offenders with mild intellectual disability

This study compared the rate of self-reported alcohol and other drug use in a sample of 30 young adults with mild intellectual disability whose offending behaviour had resulted in involvement in the criminal justice system, with a matched comparison group of 30 non-offenders. Performance on an alcohol and other drug knowledge test was also compared. The results indicated that many individuals with mild intellectual disability regularly consumed alcohol and used illicit drugs. Furthermore, the data suggest a possible link between substance abuse and offending behaviour in this population. Individuals who had offended reported greater use of both legal and illicit drugs than their non-offending counterparts and many reported that they had been under the influence of alcohol or illicit drugs at the time of committing the offence that had resulted in their current placement within the criminal justice system. Although deficits in knowledge were apparent in both groups, the offenders demonstrated greater overall knowledge about alcohol and other drugs.

Knowledge and attitudes of lawyers regarding offenders with intellectual disability

People with an intellectual disability appear to be over represented in the criminal justice system and have characteristics that may render them particularly vulnerable. Hypotheses concerning different treatment have been investigated by others through analysis of the attitudes of various criminal justice personnel. The current study extends this work by examining the knowledge and attitudes of Victorian criminal lawyers towards offenders with an intellectual disability. Criminal lawyers (n = 96) responded anonymously to a questionnaire concerning their knowledge of the characteristics of people with intellectual disability and their attitudes regarding the exposure and disposition of this population within the criminal justice system, In addition, respondents were asked to indicate their level of social and professional experience with people with intellectual disability. Results revealed that although the majority of criminal lawyers generally had some understanding of the problems encountered by people with an intellectual disability when they come into contact with the criminal justice system, some deficits that may contribute to vulnerability were evident.

Community integration or community exposure? A review and discussion in relation to people with an intellectual disability

Background: This paper reviews the issue of integration as it applies to people with an intellectual disability. A compelling finding is the almost exclusive orientation of the literature to physical integration within the general community of non-disabled people. Moreover, it seems to be generally assumed that the more frequently people experience such integration the better their lives will be. Methods: We question the validity of this assumption on several grounds. It is social, not physical integration, that has a reliable positive influence on well-being. This is an important conclusion as some disabled people find effective social integration with the general community extremely difficult to achieve. Because of this, the consequences of an overly enthusiastic program of integration for such people has more potential to be more stressful than beneficial. Results: We further argue that, as integration is being pursued to benefit the individual, the essential goal of service provision should be to achieve a sense of community connectedness, rather than being concerned with physical integration within the general community.
Conclusion: It is proposed that such connectedness is more likely to be achieved within the community of people with an intellectual disability.

The development of the nutrition and activity knowledge scale for use with people with an intellectual disability

Background Obesity is an increasing health problem for many Australians, no less so among people with an intellectual disability. Behaviour change aimed at improving nutritional intake and increasing levels of physical activity is a requirement for the reduction of obesity. An essential part of this process is to first ascertain the level of knowledge and beliefs people with an intellectual disability have about these behaviours.

Methods The aim of this study was to develop and psychometrically evaluate a scale to assess levels of nutritional and physical activity knowledge among people with an intellectual disability.

Results Seventy-three people with an intellectual disability completed the interview-rated scale at time 1 and 66 of them completed it again at a 3-week re-test.

Conclusions The scale demonstrated strong factorial construct validity, high internal consistency and good temporal stability. The applications of this scale in future research and in intervention programmes are discussed.