Perceptions of Alcohol and Alcohol Use among Community Members and Young Adults in Ukraine.

Background: Unhealthy alcohol use is a public health issue, prioritized by the World Health Organization (WHO) for prevention and reduction. Ukraine falls in the highest WHO category of "years of life lost" due to alcohol use. Objective: To investigate perceptions of alcohol consumption in a sample of youth and adults in western Ukraine. Methods: In-depth semi-structured interviews were conducted with 38 adult stakeholders (aged 21-63 years), and 81 adolescents and young adults (aged 12-21 years) completed paper-and-pencil open-ended questions. A combined deductive-inductive thematic analysis of these qualitative data resulted in an initial coding scheme for both parts of the data. These initial codes were organized into patterns, which were further condensed to four themes. Results: The four themes that were developed are: (1) The general historical, socio-economic-political situation and its relation to alcohol use, (2) Alcohol in the home and daily environment, (3) Alcohol use, related feelings, peers, family, and burden to health, and (4) Perceptions of the consequences of alcohol (mis)use. Conclusions: Respondents indicated awareness that daily consumption, also in youth, as well as binge drinking and childhood sipping constitute a risk to health. These risks were described in the context of easy availability, low pricing, and peer pressure. The respondents mentioned awareness that alcohol dependence (AD) of parents affected families with the risk of disadvantageous child development. Interventions may include targeting current norms, stigmatizing beliefs and supporting subjects in developing coping skills.

Women Who Love: An Explorative Study on Experiences of Lesbian and Bisexual Women with a Mild Intellectual Disability in The Netherlands.

Empirical research that addresses sexual orientation in people with an intellectual disability (ID) is limited, and very little is known regarding the personal experiences of lesbian and bisexual women with ID. This study set out to answer the question: What are the experiences of lesbian and bisexual women with a mild intellectual disability in the Netherlands? Ten lesbian and bisexual women (average age of 33 years) with a mild intellectual disability took part in our study comprising of semi-structured interviews. Participants reported that they had found it hard to talk to others about sensitive subjects such as their sexuality, and had been left to figure out information regarding their sexual orientation without support or guidance. Our results point to a lack of information, sexual education and role models when it comes to lesbian sex and women with an intellectual disability. Social contact was often limited, and participants experienced difficulties finding a partner. Furthermore, participants often had to cope with mental health problems and had struggled with loneliness, depression and addiction. Last but not least, our participants reported that they had been discriminated against. Coming out (revealing your sexual orientation) is not easy when you have an intellectual disability. To enable women with ID who have lesbian or bisexual feelings to understand and secure their sexual rights in their daily lives is important. Therefore, it is necessary to provide support in the following domains: sexual education and training, social contact and assertiveness.

Sexuality and individual support plans for people with intellectual disabilities.

BACKGROUND: Sexual rights and sexuality are important aspects of quality of life, also for people with intellectual disabilities (IDs). However, providing support in this area to people with ID poses some challenges. In this study, the content of individual support plan (ISP) documents was analysed to determine the extent to which sexuality and sexual rights are addressed in part of the ISP documents. METHOD: Content analysis was carried out on a sample of 187 ISP documents from seven different service provider organisations in the Netherlands. First, we conducted a lexical search using terms related to sexuality and sexual health. The retrieved segments were then analysed. RESULTS: A total of 159 ISP documents (85%) of 60 men and 99 women contained some reference to aspects of sexuality. However, these references were mostly descriptive and offered little guidance in terms of providing support. Moreover, these notations mostly described negative or problematic aspects of sexuality. References to sexual education, treatment, intervention programs or support strategies were rarely found in the ISP documents. CONCLUSIONS: Although sexuality is addressed in most ISP documents, there is little information available about the provision of professional support in this area that would give people the opportunity to exert sexual rights. As sexuality and exerting sexual rights are important for people with ID as well as for other people, it is recommended that issues surrounding proactive sex education, shared decision-making and the implementation of sexual healthcare plans are addressed in the ISP.

People with Intellectual Disabilities Talk About Sexuality: Implications for the Development of Sex Education.

Existing sex education programmes have failed in involving people with intellectual disabilities in the development of these programmes. Not involving the target population decreases the likelihood that the sex education programme will be effective. This study was conducted to assess the perspectives of people with intellectual disabilities on several sexuality-related topics. Semi-structured interviews were held with 20 people with intellectual disabilities covering topics such as: sex education, relationships, sex, social media, parenthood and support. The reported frequency of sex education the participants receive is low. Their knowledge regarding sex education is mainly limited to topics such as safe sex, contraception and STI's and tends to be superficial. Additionally, knowledge on safe sex does not always translate to safe sex behaviour. Finally, relationships are important for most participants; mainly because they don't want to be alone. Findings from both this study and literature shows that there seems to be a need for high quality sex education. Topics to consider to include are: online relationships, social media and parenthood. It would also be beneficial to focus on sexuality-related skills. Finally, to increase the effectiveness of a sex education programme, it is advisable that a theory-and evidence-based framework, such as Intervention Mapping, is used for its development.

Do-Not-Attempt-Resuscitation orders for people with intellectual disabilities: dilemmas and uncertainties for ID physicians and trainees. The importance of the deliberation process.

BACKGROUND: Not much is known about Do-Not-Attempt-Resuscitation (DNAR) decision-making for people with intellectual disabilities (IDs). The aim of this study was to clarify the problems and pitfalls of non-emergency DNAR decision-making for people with IDs, from the perspective of ID physicians. METHODS: This qualitative study was based on semi-structured individual interviews, focus group interviews and an expert meeting, all recorded digitally and transcribed verbatim. Forty ID physicians and trainees were interviewed about problems, pitfalls and dilemmas of DNAR decision-making for people with IDs in the Netherlands. Data were analysed using Grounded Theory procedures. RESULTS: The core category identified was 'Patient-related considerations when issuing DNAR orders'. Within this category, medical considerations were the main contributory factor for the ID physicians. Evaluation of quality of life was left to the relatives and was sometimes a cause of conflicts between physicians and relatives. The category of 'The decision-maker role' was as important as that of 'The decision procedure in an organisational context'. The procedure of issuing a non-emergency DNAR order and the embedding of this procedure in the health care organisation were important for the ID physicians. CONCLUSION: The theory we developed clarifies that DNAR decision-making for people with IDs is complex and causes uncertainties. This theory offers a sound basis for training courses for physicians to deal with uncertainties regarding DNAR decision-making, as well as a method for advance care planning. Health care organisations are strongly advised to implement a procedure regarding DNAR decision-making.

Fetal Alcohol Spectrum Disorders (FASD): an Approach to Effective Prevention.

PURPOSE OF REVIEW: The objective of the current contribution is to propose an evidence-based, six-step approach to develop effective programs for prevention of fetal alcohol spectrum disorders. RECENT FINDINGS: Despite widespread campaigns aimed to reduce prenatal alcohol exposure, the number of affected children continues to be high. Current strategies to reduce prenatal alcohol exposure may be ineffective or counterproductive. However, proven principles of health promotion could be applied to reduce drinking in pregnancy. One such approach is Intervention Mapping (IM), a six-step procedure based on proven principles to change behaviors. SUMMARY: FASD affects all communities and is an underestimated problem worldwide. Programs based on proven principles of behavior change are warranted. Program developers can use pre-existing protocols and strategies from evidence-based practice, such as Intervention Mapping. Developers who plan their preventive programs in a systematic and evidence-based manner increase the chances of success in reducing prenatal alcohol exposure and FASD.

Fetal alcohol spectrum disorders: Prevalence rates in South Africa.

BACKGROUND: Fetal alcohol spectrum disorder (FASD) is an under-diagnosed condition in South Africa (SA). Fetal alcohol syndrome and FASD community prevalence studies were undertaken in 17 towns in three of the nine provinces in SA. OBJECTIVE: The objective for all the studies was to determine the FASD prevalence rates by assessing the grade 1 learners in all the studies, using international FASD diagnostic criteria. METHODS: The same methodology was used for all the studies in Gauteng, Western and Northern Cape provinces. Consenting grade 1 learners received anthropometric screening, clinical examinations and neurodevelopmental assessments. Structured interviews were used to assess maternal alcohol consumption during pregnancy. RESULTS: Reported prevalence rates ranged from 29 to 290 per 1 000 live births. CONCLUSION: FASD rates from studies conducted in SA are among the highest worldwide. FASD affects all communities in SA and is therefore a major public health concern in SA. Multidisciplinary and intersectoral interventions are urgently required to raise awareness about the dangers of prenatal alcohol exposure and the devastating effect of FASD on the lives of children, families and communities.

The use of two different MLPA kits in 22q11.2 deletion syndrome.

22q11.2 deletion syndrome (22q11DS) is one of the most common recurrent copy-number variant disorder, caused by a microdeletion in chromosome band 22q11.2 and occurring with a population prevalence of 1 in 2000. Until today there has been no evidence that the size of the deletion has an influence on the clinical phenotype. Most studies report that 22q11DS is associated with mild or borderline intellectual disability. There are a limited number of reports on 22q11DS subjects with moderate or severe intellectual disability. In this study we describe 63 adult patients with 22q11DS, including 22q11DS patients functioning at a moderate to severe intellectual disabled level. Deletion size was established with an experimental Multiplex ligation-dependent probe amplification (MLPA) mixture (P324) in addition to the commonly used MLPA kit (P250). We compared deletion size with intellectual functioning and presence of psychotic symptoms during life. The use of the experimental MLPA kit gives extra information on deletion size, only when combined with the common MLPA kit. We were able to detect eleven atypical deletions and in two cases the deletion size was shorter than all other "typical ones". We conclude that the use of the experimental kit P324 gives extra information about the deletion size, but only when used together with the standard P250 kit. We did not found any relation of deletion size with intelligence or presence of psychosis.

Individual support plans of people with intellectual disabilities in residential services: content analysis of goals and resources in relation to client characteristics.

BACKGROUND: Goals and objectives as mentioned in Individual Support Plans (ISPs) were analysed to explore what domains of quality of life they are associated with, what support resources are referenced for achieving the goals, and how domains and resources are related to clients age, gender and intellectual disability (ID) level. METHOD: A total of 209 ISPs for persons with ID from eight residential Dutch service provider organisations were analysed. Mixed linear regression analyses were conducted to examine the relations between client characteristics and the content of goals and support resources. RESULTS: Results showed that ISPs of people with mild and moderate ID had significantly more goals related to independence and social participation as compared to the ISPs of people with severe and profound ID. ISPs of clients with profound ID addressed quality of life factors related to 'well-being' more than ISPs of all other clients. ISPs of people aged 20-34 years had significantly more goals on independence than the two other age groups. ISPs of people under the age of 50 had significantly fewer goals with respect to well-being than found in ISPs of older people. Regarding the use of resources, 42.6% of the ISP goals were associated with resources from specialised services, 31.5% associated with natural resources and 25.9% associated with a combination of both natural and specialised services. In ISPs of people with mild ID, natural resources are more often mentioned, and specialised service-based resources are less often mentioned than for other people. CONCLUSIONS: This study offers empirical feedback on ISP practices in the field of ID in the Netherlands. In light of current ISP practices, results suggest that attention should be paid to: (1) distinguishing between a 'service contract' and an ISP; (2) keeping a focus on the whole person in all age groups and levels of functioning and (3) involving the service recipient in ISP development and implementation.

Psychopathology in adults with 22q11 deletion syndrome and moderate and severe intellectual disability.

BACKGROUND: 22q11 deletion syndrome (22q11DS) is associated with mild or borderline intellectual disability (ID). There are hardly any reports on subjects with 22q11DS with moderate or severe ID, and therefore its behavioural and psychiatric characteristics are unknown. METHOD: We describe behavioural and psychiatric characteristics of 33 adults with 22q11DS and a Full-Scale IQ (FSIQ) below 55. Participants were divided into two groups: one group having a FSIQ ≤ 55 caused by intellectual decline (n = 21) and one group with a FSIQ ≤ 55 who had always functioned at this level (n = 12). RESULTS: High scores on psychopathology sub-scales were found for both subgroups. 22q11DS patients with intellectual decline showed higher rates of co-morbid psychopathology, particularly psychosis. Furthermore, psychosis and intellectual decline were positive correlated. CONCLUSION: This is the first report addressing adult patients with 22q11DS and moderate to severe ID. Overall we found high levels of psychopathology with higher scores of psychopathology in the intellectual decline group. Life time psychosis seems to be related to deterioration.

Processes and effects of solution-focused brief therapy in people with intellectual disabilities: a controlled study.

BACKGROUND: Solution-Focused Brief Therapy (SFBT) is a form of behaviour therapy that focuses on evoking desired behaviour rather than on diminishing existing problem behaviour. SFBT has a number of advantages that makes it attractive for use with people who have intellectual disabilities (ID). These advantages include: focus on empowerment for the person, unique intervention strategies for each person based on their particular skills, and recognition of the expert status of the individual identified as the patient resulting in a sense of self-efficacy. METHODS: To investigate the effects of SFBT, we conducted a controlled pre- and post-test and follow-up study with 20 people with mild ID (MID) receiving SFBT and 18 people with MID receiving care as usual (CAU). We expected that SFBT could help people with MID with (1) reaching treatment goals; (2) improving quality of life (i.e. psychological and social functioning); (3) reducing maladaptive behaviour; and (4) increasing resilience (autonomy and social optimism). RESULTS: Two of the 20 clients terminated SFBT prematurely. Most clients receiving SFBT (13 of 18 clients) showed clinically relevant progressions (more than two points on a 1 to 10 scale) towards their treatment goals after SFBT and at follow-up, an additional client showed clinically relevant progress (total of 14 of 18 clients). Directly after therapy, the SFBT group performed statistically significantly better than the CAU group on psychological functioning, social functioning, maladaptive behaviour, autonomy and social optimism. The effect sizes of these improvements were medium to large. At 6-week follow-up, the improvements in psychological functioning, social functioning and maladaptive behaviour in the treatment group were still statistically significant compared with CAU, with medium to large effect sizes. CONCLUSIONS: Although the study had limitations because of the short follow-up period and the non-random selection of participants, the statistically significant differences between the SFBT and CAU groups and the medium to large effect sizes, indicate the potential effectiveness of SFBT for people with MID.

Homosexuality among people with a mild intellectual disability: an explorative study on the lived experiences of homosexual people in the Netherlands with a mild intellectual disability.

BACKGROUND: Empirical research on homosexuality among people with an intellectual disability (ID) is limited and, to date, very little is known regarding the personal experiences of gay and lesbian people with an ID. This study set out to answer the question: What are the lived experiences of a specific cohort of homosexual people with an intellectual disability living in the Netherlands? METHOD: To answer this question, a qualitative study was performed in which 21 people with a mild ID were interviewed via semi-structured interviews. In this study, 19 participants were men and two were women (average age = 40.5 years). RESULTS: Participants reported positive and negative experiences, and talked about their gay or lesbian identity. Almost half of the participants (n = 10) reported that they had experienced sexual abuse including partner violence (n = 6). Additionally, they indicated that there was a lack of support for homosexual people with an ID. CONCLUSION: Specific problems impact the lives of homosexual people with ID, namely the high prevalence of negative sexual experiences, the lack of support, training and sex education, and their search for a suitable partner.

Individual support planning: perceptions and expectations of people with intellectual disabilities in The Netherlands.

BACKGROUND: According to Dutch jurisdiction, individual support plans (ISP) should register the mutual agreements between a person with intellectual disabilities (ID) and a professional service organisation with respect to the support that will be provided. In planning for support, active involvement of both parties is necessary. The current study focuses on the perceptions and experiences of Dutch persons with ID with respect to their involvement in their ISP. METHOD: Data were gathered through semi-structured interviews with 61 people with mild to moderate ID. Participants were recruited in 23 Dutch service provider organisations. A systematic qualitative analysis was performed on the interview transcripts. RESULTS: Although persons with ID are present at their ISP meeting, active client involvement in developing, executing and evaluating the ISP is not common practice. Issues of accessibility and lack of control over the process and content of ISP hamper effective involvement of people with ID. CONCLUSIONS: The study raises questions concerning ISP practices in the Netherlands. The question needs to be addressed as to how to facilitate active involvement of people with ID in planning for support. The results further suggest that support organisations perceive an ISP rather as a formal document to comply with bureaucratic rules than as an instrument of empowerment to enhance control of persons with ID over their own lives.

Ageing with an intellectual disability: the impact of personal resources on well-being.

BACKGROUND: The population of ageing people with mild and moderate intellectual disabilities (ID) is growing rapidly. This study examines how personal resources (physical health, mental health and social networks) impact the well-being of ageing people with ID. METHODS: Longitudinal survey data on 667 people with a mild or moderate ID were acquired via interviews in 2006 and 2010. Indicators of personal resources (physical health, mental health and social networks) were assessed, as were indicators of well-being (satisfaction with life, happiness and loneliness). Additionally, data on background characteristics and autonomy were gathered. RESULTS: The results show that age is positively related to decreased mobility and auditory disabilities and negatively related to independent living, autonomy in how one spends one's leisure time and autonomy in decision-making. Longitudinal analyses demonstrated that, with the exception of health that deteriorated, and social satisfaction that improved, almost all variables remained stable over the 4-year period. Further, good physical health in 2006 predicted happiness in 2010. CONCLUSION: Despite the fact that age is associated with poorer physical and mental health and a smaller social network, this study showed that older people with ID have relatively high levels of well-being. Findings are discussed in the light of coping with ageing and impact of life events.

Aging in Rett syndrome: a longitudinal study.

Little is known about the aging process of people with specific syndromes, like Rett syndrome (RTT). Recognition of the clinical and behavioral characteristics of the adult RTT is needed in order to improve future management of the RTT girl and counseling of parents. In association with the Dutch RTT parent association, a 5-year longitudinal study was carried out. The study population consisted of 53 adult women with a clinical diagnosis of RTT. Postal questionnaires were sent, including demographic features, skills, physical and psychiatric morbidity. At the time of the second measurement seven women had died. In 2012, 80% of the questionnaires (37/46) were returned. Mean age of the women was 31.4 years. Molecular confirmation was possible for 83% of the women for whom analyses were carried out. The adult RTT woman has a more or less stable condition. The general disorder profile is that of a slow on-going deterioration of gross motor functioning in contrast to a better preserved cognitive functioning, less autonomic and epileptic features and good general health. This is the first longitudinal cohort study about aging in RTT. Continuing longitudinal studies are needed to gain more insight into the aging process in RTT.

Attentional set-shifting in fragile X syndrome.

The ability to flexibly adapt to the changing demands of the environment is often reported as a core deficit in fragile X syndrome (FXS). However, the cognitive processes that determine this attentional set-shifting deficit remain elusive. The present study investigated attentional set-shifting ability in fragile X syndrome males with the well-validated intra/extra dimensional set-shifting paradigm (IED) which offers detailed assessment of rule learning, reversal learning, and attentional set-shifting ability within and between stimulus dimensions. A novel scoring method for IED stage errors was employed to interpret set-shifting failure in terms of repetitive decision-making, distraction to irrelevance, and set-maintenance failure. Performance of FXS males was compared to typically developing children matched on mental age, adults matched on chronological age, and individuals with Down syndrome matched on both mental and chronological age. Results revealed that a significant proportion of FXS males already failed prior to the intra-dimensional set-shift stage, whereas all control participants successfully completed the stages up to the crucial extra-dimensional set-shift. FXS males showed a specific weakness in reversal learning, which was characterized by repetitive decision-making during the reversal of newly acquired stimulus-response associations in the face of simple stimulus configurations. In contrast, when stimulus configurations became more complex, FXS males displayed increased distraction to irrelevant stimuli. These findings are interpreted in terms of the cognitive demands imposed by the stages of the IED in relation to the alleged neural deficits in FXS.

Auditory and visual cortical activity during selective attention in fragile X syndrome: a cascade of processing deficiencies.

OBJECTIVE: This study examined whether attention deficits in fragile X syndrome (FXS) can be traced back to abnormalities in basic information processing. METHOD: Sixteen males with FXS and 22 age-matched control participants (mean age 29 years) performed a standard oddball task to examine selective attention in both auditory and visual modalities. Five FXS males were excluded from analysis because they performed below chance level on the auditory task. ERPs were recorded to investigate the N1, P2, N2b, and P3b components. RESULTS: N1 and N2b components were significantly enhanced in FXS males to both auditory and visual stimuli. Interestingly, in FXS males, the P3b to auditory stimuli was significantly reduced relative to visual stimuli. These modality differences in information processing corresponded to behavioral results, showing more errors on the auditory than on the visual task. CONCLUSIONS: The current findings suggest that attentional impairments in FXS at the behavioral level can be traced back to abnormalities in event-related cortical activity. These information processing abnormalities in FXS may hinder the allocation of attentional resources needed for optimal processing at higher-levels. SIGNIFICANCE: These findings demonstrate that auditory information processing in FXS males is critically impaired relative to visual information processing.

Auditory change detection in fragile X syndrome males: a brain potential study.

OBJECTIVE: The present study investigated involuntary change detection in a two-tone pre-attentive auditory discrimination paradigm in order to better understand the information processing mechanisms underlying attention deficits in fragile X syndrome (FXS) males. METHODS: Sixteen males with the FXS full mutation and 20 age-matched control participants (mean age 29 years) were presented with series of auditory stimuli consisting of standard and deviant tones while watching a silent movie. RESULTS: Brain potentials recorded to the tones showed that N1 and P2, sensory evoked potentials, were significantly enhanced in FXS compared to age-matched control participants. In contrast to controls, the N1 to standard tones failed to show long-term habituation to stimulus repetition in FXS. Additionally, both mismatch negativity and P3a generation, reflecting automatic change detection and the involuntary switch of attention, respectively, were significantly attenuated in FXS males. CONCLUSIONS: The current study demonstrates that auditory stimulus discrimination in the FXS brain is already compromised during the pre-attentive stages of information processing. Furthermore, the apparent pre-attentive information processing deficiencies in FXS coincide with a weakness in the involuntary engagement of attentional resources. SIGNIFICANCE: The stimulus-driven information processing deficiencies in FXS might compromise information processing in several domains and, thus, present a key-deficit in FXS neurocognition.

The GH/IGF-I axis and pituitary function and size in adults with Prader-Willi syndrome.

BACKGROUND: In adults with Prader-Willi syndrome (PWS), limited information is available about pituitary function, more specifically the prevalence of growth hormone deficiency (GHD). The aim of this study was to gain more insight into endocrine function in PWS adults, with emphasis on GH secretion. METHODS: 15 randomly selected adult PWS individuals were included and 14 healthy brothers and sisters served as a control group. Main outcome measures were IGF-I, IGFBP-3 and peak GH level after a combined GHRH-arginine test. Other pituitary hormone deficits are diagnosed based on serum levels of the concerning hormones. The size of the pituitary gland was measured on MRI images. RESULTS: In PWS adults, IGF-I levels were low and IGFBP-3 levels normal when compared to healthy controls. GHD was diagnosed in 8-38% of the PWS patients, depending on the criteria used. Hypogonadism was present in 87% of the patients. Hypothyroidism and adrenal insufficiency could also be demonstrated. Anterior pituitary size was lower in PWS individuals when compared to healthy controls. CONCLUSION: In this study, pituitary hormone deficiencies are demonstrated in a considerable number of adults with PWS, hypogonadism and GHD being most prominent. Furthermore, the anterior pituitary is smaller in comparison with healthy controls.

The relationship between IGF-I concentration, cognitive function and quality of life in adults with Prader-Willi syndrome.

Mental retardation is one of the clinical characteristics of Prader-Willi syndrome (PWS) and in part of the patients growth hormone deficiency is demonstrable. Cognitive function seems to be influenced by insulin-like growth factor I (IGF-I); however, little is known about cognitive function in relation to IGF-I levels in PWS adults. The aim of the present study was to evaluate cognitive function in adult PWS patients in comparison to healthy siblings and to investigate whether there is a correlation between cognitive function and IGF-I levels. Anthropometric measurements, IGF-I levels, quality of life (QoL), Appetite Assessment Score, IQ (GIT and Raven) and cognitive function (by four subtests of the Cambridge Neuropsychological Automated Testing Battery, CANTAB) were evaluated in PWS patients and their healthy siblings served as control group. PWS patients had significantly lower IGF-I levels, IQ and QoL when compared to controls. Reaction times were longer and performance was worse on CANTAB subtests in PWS adults. IGF-I on one hand and IQ, Appetite Assessment Score and cognitive performance on the other hand seem to be correlated in PWS patients. In conclusion, IGF-I levels, IQ and QoL are significantly lower in PWS subjects when compared to healthy siblings. In PWS adults, temporal as well as prefrontal cognitive functions are impaired. Higher IGF-I levels appear to be related to better intellectual skills and faster temporal memory processing in PWS patients.