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Pain is often undetected in older people with dementia partly due to a deterioration of cognitive functioning. Observational scales enable the measurement of pain by registering physiological changes, facial expressions, or behaviors. Previous research showed that the Pain Assessment Checklist for Seniors with Limited Ability to Communicate (PACSLAC) is especially useful to measure pain in older people with dementia. PACSLAC was recently translated into Dutch and refined, thus forming PACSLAC-D. The current study uses a different approach to refining PACSLAC by (1) selecting items on the basis of ratings of nursing personnel and (2) applying confirmatory robust maximum likelihood factor analysis and (3) item response theory to investigate the psychometric properties of the selected items. Of the items that nursing personnel frequently registered, 18 valid and reliable items remained. Fourteen of these 18 items were also selected for PACSLAC-D, which confirms that these items are valid and reliable indicators of pain in older people with dementia. Confirmatory factor analysis showed that a 3-factor model is most adequate to describe the data. Differential item functioning analyses indicated that 2 items were biased. Ultimately, a refined version of PACSLAC was created that nursing personnel with different educational backgrounds might use to assess pain in older people with varying degrees of dementia. PERSPECTIVE: This article describes the selection of items of PACSLAC on the basis of ratings of nursing personnel. By comparing this item selection with the items selected for PACSLAC-D, one can confirm that certain items are sound indicators of pain, whereas others need some attention (eg, through the training of raters). [ABSTRACT FROM AUTHOR]

BACKGROUND: Obesity in Prader-Willi syndrome (PWS) seems to be related to a low basal metabolic rate (BMR). In addition, abnormal sleep patterns reported in PWS might affect sleeping metabolic rate (SMR). OBJECTIVE: Our objective was to assess BMR and SMR adjusted for fat-free mass in young PWS patients. DESIGN: Subjects were 17 PWS patients (10 females and 7 males aged 7.5-19.8 y) and 17 obese control subjects matched for sex and bone age. SMR was measured in a respiratory chamber, BMR with a ventilated-hood system, and body composition by deuterium dilution. RESULTS: BMR and SMR were significantly lower in the PWS group than in the control group (5.36 +/- 1.18 and 4.62 +/- 1.08 MJ/d compared with 6.38 +/- 1.55 and 5.60 +/- 1.52 MJ/d, respectively; P < 0.05). When fat-free mass was included in the analysis, multiple regression showed no differences in BMR and SMR between groups. When weight was included in the analysis instead of fat-free mass, SMR was lower in the PWS group. Fat-free mass was lower in the PWS group both as an absolute value and when adjusted for height. CONCLUSION: BMR and SMR are low in young patients with PWS because of a low fat-free mass. Copyright © 2000 American Society for Clinical Nutrition [ABSTRACT FROM AUTHOR]

Sleep problems are reported to be extremely prevalent in individuals with developmental disabilities. The consensus guidelines for Angelman syndrome (AS) consider abnormal sleep-wake cycles and diminished need for sleep as associated features. We report an integrative research review and a meta-analysis of studies with sleep as the primary aim of investigation in an AS sample. 14 studies met eligibility criteria with half of them being surveys. Thirteen of the 17 conceptually formed sleep disorder item-groups showed to be significant for individuals with AS. There is evidence that arousal during sleep, somnolence and possibly short sleep duration are the primary sleep problems in individuals with AS. According to the results of this review and meta-analyses, there is clear evidence for sleep problems in individuals with AS. Individual effect sizes remain overall small, but nevertheless findings suggest disorders of arousal and sleepiness to be distinctive. In light of these findings, other sleep complaints in individuals with AS should be carefully examined. Consistent standards for research on sleep in individuals with AS are critical for new lines of investigation., (Copyright © 2017 Elsevier Ltd. All rights reserved.)

In circadian rhythm sleep-wake disorders precision medicine is less developed than in other medical disciplines mainly because homeostatic sleep and circadian timing have a very complex phenotype with multiple genetic regulation mechanisms. However, biomarkers, phenotyping and psychosocial characteristics are increasingly used. Devices for polysomnography, actigraphy and sleep-tracking applications in mobile phones and other consumer devices with eHealth technologies are increasingly used. Also sleep-related questionnaires and the assessment of co-morbidities influencing sleep in circadian rhythm sleep-wake disorders are major contributors to precision sleep medicine. To further strengthen the (pharmaco-)genetic and biomarker pillar, technology needs to be evolved further. Routinely measuring treatment results using patient-reported outcome measures and clinical neurophysiological instruments will boost precision sleep medicine.

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., (© 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6-18 after normal pre- and postnatal development, loss of acquired skills and severe intellectual disability. The type and severity of symptoms are individually highly different. A single mutation in one gene, coding for methyl-CpG-binding protein 2 (MECP2), is responsible for the disease. The most important action of MECP2 is regulating epigenetic imprinting and chromatin condensation, but MECP2 influences many different biological pathways on multiple levels although the molecular pathways from gene to phenotype are currently not fully understood. In this review the known changes in metabolite levels, gene expression and biological pathways in RTT are summarized, discussed how they are leading to some characteristic RTT phenotypes and therefore the gaps of knowledge are identified. Namely, which phenotypes have currently no mechanistic explanation leading back to MECP2 related pathways? As a result of this review the visualization of the biologic pathways showing MECP2 up- and downstream regulation was developed and published on WikiPathways which will serve as template for future omics data driven research. This pathway driven approach may serve as a use case for other rare diseases, too.

Aims: Individuals with Smith-Magenis syndrome (SMS) are reported to have a disrupted circadian rhythm. Our aim was to examine problematic sleeping in those attending our sleep clinic for the first time., Methods: At intake, caregivers of 50 children and nine adults with SMS were surveyed about the sleep pattern and potential melatonin administration. Sampling of salivary melatonin levels was performed., Results: At intake, exogenous melatonin was used by 16 children (27.1% of sample; 56.3% male) with mean age 6.8 ± 2.8 years, whereas 34 children (57.6%; 7.5 ± 4.8 years old; 64.7% male) and nine adults (15.3%; 36.8 ± 15.3 years old; 44.4% male) were not taking melatonin at intake. Participants were reported to have problems with night waking and early awakenings regardless of melatonin administration. Overall, moderate to high levels of salivary melatonin at noon were found in individuals with SMS. In particular, children with SMS showed a disrupted melatonin pattern. Furthermore, the endogenous melatonin level, age, and gender may potentially interact, yielding the severity range of sleep disturbances reported in SMS., Conclusion: Treatment of sleep problems in SMS is complex, and our findings may support person-centered sleep and medication management. Future clinical trials including larger groups may shed light on such approaches., (© 2016 John Wiley & Sons Ltd.)

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.

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., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

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., (© 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

This paper provides a brief report on families' experiences of eye gaze technology as one form of augmentative and alternative communication (AAC) for individuals with Rett syndrome (RTT), and the advice, training and support they receive in relation to this. An online survey exploring communication and AAC was circulated to 190 Dutch families; of the 67 questionnaires that were returned, 63 had answered questions relating to eye gaze technology. These 63 were analysed according to parameters including: experiences during trial periods and longer-term use; expert knowledge, advice and support; funding; communicative progress; and family satisfaction. 20 respondents were using or had previous experience of using an eye gaze system at the time of the survey, 28 of those with no prior experience wanted to try a system in the future. Following a trial period, 11 systems had been funded through health insurance for long-term use and two families had decided a system was not appropriate for them. Levels of support during trials and following long-term provision varied. Despite frustrations with the technology, satisfaction with the systems was higher than satisfaction with the support. The majority of families reported progress in their child's skills with longer term use. These findings suggest that although eye gaze technologies offer potential to individuals with RTT and their families, greater input from suppliers and knowledgeable AAC professionals is essential for individuals and families to benefit maximally. Higher levels of training and support should be part of the 'package' when an eye gaze system is provided.

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., Competing Interests: Sylvia Roozen, Diane Black, Gjalt-Jorn Y. Peters, Gerjo Kok, David Townend, Jan. G. Nijhuis, Ger H. Koek, and Leopold M.G. Curfs declare that they have no conflict of interest. Human and Animal Rights and Informed Consent This article does not contain any studies with human or animal subjects performed by any of the authors.

Rationale: Patients with 22q11 deletion syndrome (22q11DS) have a high prevalence of intellectual disabilities and psychiatric disorders, including psychosis. Haplo-insufficiency of genes in the deleted region may offer a partial explanation for the increased vulnerability for psychosis and intellectual disability. One gene of particular interest is the gene coding for proline dehydrogenase (PRODH), an enzyme responsible for the conversion of proline into glutamate., Objectives: Because abnormalities in glutamatergic signaling are thought to be responsible for cognition and psychosis in the general population, we hypothesized that PRODH haplo-insufficiency may underlie some of the cognitive and psychotic features seen in 22q11DS., Methods: In this explorative study, we investigated the relation between plasma proline, glutamate, and glutamine and age, intelligence, and psychosis in 64 adults with 22q11DS., Results: Hyperprolinemia was found in 31.3% of subjects with 22q11DS. A relation between glutamine, glutamate, proline, and presence of psychosis was not observed. Regression analysis revealed a positive relation between plasma glutamate and age, a positive relation of glutamate with antipsychotic drugs, a relation of glutamine and gender, and a positive relation of glutamine and mood stabilizing drugs, and a negative relation of the ratio glutamine/glutamate and age. The group with relatively lower IQ had higher glutamate levels compared to the group with relatively higher IQ., Conclusions: Our results suggest that 22q11DS is accompanied by abnormalities in glutamatergic metabolism. Future longitudinal studies are needed to further investigate the glutamatergic system in 22q11DS and how this affects the development of cognitive problems and psychopathology.

This study compared early markers of social reciprocity in children with typical Rett syndrome (RTT) and in those with the preserved speech variant (PSV) of RTT. Retrospective video analysis of 10 toddlers with typical RTT and five with PSV investigated participants' orientation to their name being called between the ages of 5 and 24 months, prior to their diagnosis. From analysis of the recordings two distinct profiles were apparent. Although response rate was higher in girls with typical RTT than PSV at 5 to 8 months this noticeably reversed from 9 to 12 months onwards. By two years of age there was a markedly higher rate and range of responses from girls with PSV. This study contributes to the delineation of different profiles for the variants of RTT., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

The central aspect of this study is a set of reflections on the efficacy of soft operational research techniques in understanding the dynamics of a complex system such as intellectual disability (ID) care providers. Organizations providing services to ID patients are complex and have many interacting stakeholders with often different and competing interests. Understanding the causes for failures in complex systems is crucial for appreciating the multiple perspectives of the key stakeholders of the system. Knowing the factors that adversely affect delivery of a patient-centred care by ID provider organizations offers the potential for identifying more effective resource-allocation solutions. The authors suggest cognitive mapping as a starting point for system dynamics modelling of optimal resource-allocation projects in ID care. The application of the method is illustrated via a case study in one of the ID care providers in the Netherlands. The paper discusses some of the practical implications of applying problem-structuring methods that support gathering feedback from vulnerable service users and front-line workers. The authors concluded that cognitive mapping technique can assist the management of healthcare organizations in strategic decision-making., (Copyright © 2013 John Wiley & Sons, Ltd.)

Aim: Sleep is important for underlying neural plasticity, and children with developmental disabilities suffer behavioural, emotional, cognitive, and sensory-motor issues that affect their wake and sleep states. Problematic sleeping can be hypothesized to have adverse effects on both of these areas in children with developmental disabilities. With this review, we aim to provide a benchmark in managing problematic sleeping in children with developmental disabilities., Method: A literature search was conducted and data on the study descriptives, patient characteristics, study design, study-related factors, criteria applied to operationalize sleep and developmental disability, and sleep 'management' were collected. Each management strategy was tabulated and analysed., Results: We identified 90 studies involving 1460 children with developmental disabilities, of whom 61.6% were male. The highest proportion of studies, almost half, were in children with syndromes (44.4%), followed by studies in children with intellectual disabilities (18.9%). Non-pharmacological sleep management was primarily aimed at improving sleep quality (86.7%), followed by sleep-wake schedules and, to a certain extent, sleep regularity (42.2%). About 56.7% of the studies reported more than one approach. Studies mostly focused on disorders of initiating and maintaining sleep through a diversity of strategies and relied heavily on subjective measures to identify and monitor problematic sleeping. Sleep management approaches were primarily delivered at the level of the individual in the home setting. The number of management approaches per study was unrelated to the number of sleep problems discussed., Interpretation: Modifying sleep management strategies to meet the specific needs of children with developmental disabilities is encouraged, and studies that look beyond sleep quality or sleep quantity are required. It is also advocated that modifications to sleep hygiene, sleep regularity, and sleep ecology in a population with developmental disabilities are rigorously investigated. Finally, daytime somnolence should not be overlooked when aiming to optimize sleep in children with developmental disabilities across the ages and stages of their lives. There were several limitations in the research findings of problematic sleep in children with developmental disabilities. In general, the sleep problems and the developmental disabilities investigated were multicomponent in nature. It is likely that management approaches impacted those problems on multiple levels or through diverse 'therapeutic' pathways. There is a need for randomized controlled trials and more objective measures that quantify improved sleep or wake states., (© 2014 Mac Keith Press.)

Objective: To asses possible bladder dysfunctions and lower urinary tract symptoms (LUTS) in individuals with Angelman syndrome (AS), since remarkable voiding characteristics were found in previous studies on toilet training and incontinence in AS., Method: Uroflowmetric analysis, a non-invasive technique to assess the voiding pattern, was conducted in six participants with AS., Results: Pathological uroflow patterns were found in five participants; staccato flows in three participants, interrupted flows in one and both interrupted and staccato flows in another participant. Small quantities or urine were found in four participants, large amounts in one and one participant had normal voided volumes., Conclusions: Results indicate that different conditions such as dysfunctional voiding are present in AS and future studies should further assess these in greater detail. Possible treatment of LUTS and incontinence includes adequate liquid intake, timed voidings, treatment of constipation, and allowing enough time on toilet to stimulate relaxation.

Sex education for individuals with intellectual disabilities is important. However, our knowledge about effective methods for teaching sex education to this population is limited. We report the results of a systematic review identifying methods for sex education programs aimed at individuals with intellectual disabilities. In all, 20 articles were included that met the criteria set in terms of topic--the effectiveness of sex education programs--and population of interest--individuals with intellectual disabilities. In these articles, methods for increasing knowledge and for improving skills and attitudes were reported. However, the studies revealed that generalization of skills to real-life situations was often not achieved. There are indications that the maintenance of knowledge and skills still needs extra attention. Moreover, detailed descriptions of the program materials, program goals, and methods used in the programs were often lacking in the reports. Although there is some evidence for methods that may improve knowledge, attitudes, and skills with regard to sex education aimed at individuals with intellectual disabilities, due to the lack of detailed descriptions provided it is unclear under which conditions these methods work. We therefore suggest that authors provide additional detail about methods in future publications or in online supplements.

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., (© 2014 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

Objective: To assess if adapted versions of the response restriction toilet training protocol, based on the behavioral phenotype of Angelman syndrome (AS), were successful in fostering urinary continence in seven individuals with AS., Method: Data were collected in AB-designs during baseline, training, generalization and follow-up. The response restriction protocol was adapted: individuals were trained in their natural environment, were prompted to void and along with improving continence, the interval between voids was prolonged and time-on-toilet decreased., Results: During generalization five individuals had less than two accidents and one to six correct voids per day; during baseline more accidents and/or less correct voids occurred. In two participants correct voids increased, but several accidents still occurred. Three participants maintained positive results after 3-18 months., Conclusion: Despite their intellectual and behavioral challenges, urinary continence can be acquired in AS. Several indications of voiding dysfunctions were found; further research is indicated.

Treatment of circadian rhythm sleep disorders (CRSD) may include light therapy, chronotherapy and melatonin. Exogenous melatonin is increasingly being used in patients with insomnia or CRSD. Although pharmacopoeias and the European food safety authority (EFSA) recommend administering melatonin 1-2 h before desired bedtime, several studies have shown that melatonin is not always effective if administered according to that recommendation. Crucial for optimal treatment of CRSD, melatonin and other treatments should be administered at a time related to individual circadian timing (typically assessed using the dim light melatonin onset (DLMO)). If not administered according to the individual patient's circadian timing, melatonin and other treatments may not only be ineffective, they may even result in contrary effects. Endogenous melatonin levels can be measured reliably in saliva collected at the patient's home. A clinically reliably DLMO can be calculated using a fixed threshold. Diary and polysomnographic sleep-onset time do not reliably predict DLMO or circadian timing in patients with CRSD. Knowing the patient's individual circadian timing by assessing DLMO can improve diagnosis and treatment of CRSD with melatonin as well as other therapies such as light or chronotherapy, and optimizing treatment timing will shorten the time required to achieve results., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

Patients with 22q11 deletion syndrome (22q11DS) have a high prevalence of psychiatric disorders and intellectual disability. At present the neurobiology underlying psychopathology in 22q11DS is still not understood. In the present study, we analyzed urinary serotonergic, dopaminergic and noradrenergic markers in 67 adults with 22q11DS. Levels of serotonin and the catecholamine metabolite homovanillic acid were significantly lower in the 22q11DS subjects compared to healthy controls. Within the 22q11DS group, levels of dopamine, homovanillic acid, norepinephrine, vanillyl mandelic acid and serotonin positively correlated with Full Scale Intelligence Quotient scores. Our results suggest that cognitive deficits in 22q11DS are associated with abnormal function of several neurotransmitters.

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., (© 2013 The Authors. Journal of Intellectual Disability Research © 2013 John Wiley & Sons Ltd, MENCAP & IASSIDD.)

Background: Rett syndrome is caused by mutations in the X-linked MECP2 gene, encoding MeCP2 protein. This protein is essential for the transcription and repression of other genes and is important for the development and plasticity of the central nervous system. Children with Rett syndrome initially develop normally but after a few months their development deteriorates., Case Description: The case describes a girl aged 3 years 7 months whose development had initially been normal but then stagnated and was followed by a phase of regression. Her speech was lost and she developed severe dyspraxia with stereotypic hand movements characteristic of the condition. The clinical diagnosis of Rett syndrome was confirmed through genetic testing. Later on she developed epileptic seizures and a severe scoliosis for which surgical correction and stabilisation was carried out., Conclusion: Rett syndrome is a severe neurological developmental disorder that occurs almost exclusively in females and for which there is still no causal treatment. The treatment is multidisciplinary and based on clinical experience.

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., (© 2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID.)

Frequency and type of incontinence and variables associated with incontinence were assessed in individuals with Angelman syndrome (AS; n=71) and in a matched control group (n=69) consisting of individuals with non-specific intellectual disability (ID). A Dutch version of the "Parental Questionnaire: Enuresis/Urinary Incontinence" (Beetz, von Gontard, & Lettgen, 1994) was administered and information on primary caretakers' perspectives regarding each individual's incontinence was gathered. Results show that diurnal incontinence and fecal incontinence during the day more frequently occurred in the control group than in the AS group. In both groups, nocturnal enuresis was the most common form of incontinence. More incontinence was seen in individuals with AS who were younger, had a lower level of adaptive functioning and/or had epilepsy. Individuals with AS were able to stay dry for longer periods of time than the controls and often showed both in-toilet urination and urinary accidents during the day, whereas accidents and correct voids during the day were more set apart in the control group. Also, persons with AS had a lower micturition frequency implying possible voiding postponement. Both groups showed high rates of LUTS (lower urinary tract symptoms) possibly indicative of functional bladder disorders such as voiding postponement, dysfunctional voiding, or even an underactive bladder. In general, most primary caretakers reported severe intellectual disability as the main cause for urinary incontinence. Based on these results incontinence does not appear to be part of the behavioral phenotype of Angelman syndrome. Therefore, pediatric or urologic diagnostics and treatment are recommended for all persons with incontinence and intellectual disability. Further implications for practice and research are given., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

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., (© 2012 The Authors. Journal of Intellectual Disability Research © 2012 John Wiley & Sons Ltd, MENCAP & IASSID.)

Background: Not much is known about the process of end-of-life decision-making for people with intellectual disabilities., Aim: To clarify the process of end-of-life decision-making for people with intellectual disabilities from the perspective of patient representatives., Design: A qualitative study based on semi-structured interviews, recorded digitally and transcribed verbatim. Data were analysed using Grounded Theory procedures., Participants: We interviewed 16 patient representatives after the deaths of 10 people with intellectual disabilities in the Netherlands., Results: The core category 'Deciding for someone else' describes the context in which patient representatives took end-of-life decisions. The patient representatives felt highly responsible for the outcomes. They had not involved the patients in the end-of-life decision-making process, nor any professionals other than the doctor. The categories of 'Motives' and 'Support' were connected to the core category of 'Deciding for someone else'. 'Motives' refers to the patient representatives' ideas about quality of life, prevention from suffering, patients who cannot understand the burden of interventions and emotional reasons reported by patient representatives. 'Support' refers to the support that patient representatives wanted the doctors to give to them in the decision-making process., Conclusions: From the perspective of the patient representatives, the process of end-of-life decision-making can be improved by ensuring clear roles and an explicit description of the tasks and responsibilities of all participants. Regular discussion between everyone involved including people with intellectual disabilities themselves can improve knowledge about each other's motives for end-of-decisions and can clarify expectations towards each other.

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., (© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Introduction: Adults with Prader-Willi syndrome (PWS) have an increased occurrence of several medical conditions. We report on the consequences of high morbidity rates such as prevalence rate of hospital admissions, medication use and surgery in a Dutch cohort of adults with PWS. Special attention is paid to causes and symptoms of serious illness., Method: Participants were contacted via the Dutch Prader-Willi Parent Association and through physicians specializing in persons with ID. The persons with PWS and their main caregivers were visited at home. Information was collected through semi-structured interviews on 102 adults with PWS., Results: The need for medical care in the neonatal period is associated with hypotonia and feeding problems. Hospital admissions for respiratory tract infections are frequent. During childhood most hospital admissions were due to PWS syndrome specific surgery. During adolescence hospital admissions occurred for scoliosis surgery and endocrine evaluations. At adult age, hospitalization was associated with inguinal hernia surgery, diabetes mellitus, psychosis, erysipelas, water and drug intoxications. In the older group, respiratory infections were again the main reason for hospital admissions. Frequently used medications at adult age included psychotropics, laxatives, anti-diabetics and dermatologic preparations. Abnormal drinking patterns, problems with anesthesia, decreased ability to vomit, abnormal pain awareness and unpredictable fever responses were frequent and often lead to delayed diagnoses of serious conditions., Discussion: People with PWS are frequent users of medical-care. Reasons for hospitalization and medication use are age specific. Knowledge on the different presentation of symptoms in people with PWS is needed. In case of unexplained illness, disturbances of consciousness and behavioral changes in people with PWS, an infection should be ruled out in the first place. Information from this study may help in preventing conditions and recognizing conditions in an early stage. Adequate preventive management and treatment of PWS related morbidity, could reduce medical care use in the long term and could improve quality adjusted life years., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

Background: People with intellectual disabilities face barriers that affect their sexual health. Sex education programmes have been developed by professionals working in the field of intellectual disabilities with the aim to overcome these barriers. The aim of this study was to explore the development of these programmes., Methods: Sex education programmes geared to people with intellectual disabilities were examined in the context of the Intervention Mapping protocol. Data were obtained via interviews with the programme developers., Results: All programmes lack specific programme outcomes, do not have a theoretical basis, did not involve members of relevant groups in the development process and lack systematic evaluation., Conclusions: Based on our findings and the literature, we conclude that these programmes are unlikely to be effective. Future programmes should be developed using a more systematic and theory- and evidence-based approach., (© 2012 Blackwell Publishing Ltd.)

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., (© 2012 The Authors. Journal of Intellectual Disability Research © 2012 Blackwell Publishing Ltd.)

Background: Solution-focused coaching (SFC) helps individuals or groups to achieve their preferred outcomes by evoking and co-constructing solutions. SFC has been shown to be helpful for persons with ID as well as for teams coaching people with ID. Nominal Group Technique (NGT) helps to organize people's thoughts with regard to a single question. This study examines the perceived strengths of and recommendations for SFC for teams coaching people with ID via NGT, as well as the extent to which the NGT results reflect the results of an SFC questionnaire., Methods: In total, 54 staff members participated in SFC. Of these, 18 participated in NGT, while 36 completed the SFC questionnaire. The strengths of and recommendations for SFC were obtained via NGT. Interrater agreement was calculated via Cohen's kappa., Results: The strengths of SFC include 'exploring hidden successes' and 'focusing on solutions'. It was recommended that 'the results be consolidated in follow-up meetings'. The participants agreed on the content of the strengths and recommendations, but differed in terms of priorities (κ ≤ 0.1)., Conclusions: NGT is a valuable tool in exploring people's opinions and priorities, but further research is needed to elucidate the perceived priorities of SFC for teams coaching persons with ID., (© 2012 Blackwell Publishing Ltd.)

The prevalence of sleep problems in individuals with intellectual disability (ID) seems to vary between genetic syndromes associated with ID. Different types of sleep disturbances may indicate underlying causes of sleep problems and these types of sleep disturbances may vary between different genetic syndromes. We examined and compared five types of sleep disturbance as well as severity of sleep problems in individuals with Cri du Chat syndrome (CDC), Down's syndrome (DS), Jacobsen syndrome (JS), and individuals with non-specific ID (NS). We used Simonds and Parraga's Sleep Questionnaire (1982) to assess prevalence of types of sleep disturbance and to explore differences in types of sleep disturbance and severity of sleep problems between the four diagnostic groups. In each group, mean scores for Snoring were significantly higher than those for Sleep apnea and Snoring was the most prevalent type of sleep disturbance in CDC, DS, and JS. The mean score on Complaints related to sleep was remarkably high in the JS group. There were no differences in severity of sleep problems between groups. These findings suggest that snoring is an important underlying cause of sleep problems in individuals with CDS, DS, and JS., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

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., (Copyright © 2011 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved.)

The life expectancy of persons with Prader-Willi syndrome (PWS) has increased in recent years. Because of the paucity of reports on older persons with PWS, the natural history, the onset, and type of age-related problems are poorly understood. Twelve persons with a genetically confirmed diagnosis of PWS aged over 50 years are described (4 deletion; 8 mUPD). Data on physical, behavioral, psychiatric, and aging characteristics were collected through semi-structured interviews with the individuals with PWS and their main carers. Cardiovascular diseases, diabetes, dermatological, and orthopedic problems were common physical complaints in older people with PWS. Functioning in activities of daily living, psychological functioning, physical functions, and care dependence were substantially worse in the older age group (50+) compared to the control group (18-49 years). Seven out of eight persons with mUPD had a history of psychiatric illness. Behavioral problems were observed in the older age group. Given the combination of age-related physical morbidity, physical appearance, behavioral and psychiatric problems, and functional decline in our cohort, we hypothesize that premature aging occurs in PWS. The care for older people with PWS requires a lifespan approach that recognizes the presence, progression, and consequences of specific morbidity. Special medical surveillance of people with PWS from 40 years onwards would ensure that intervention and support is offered with respect to specific areas of decline at the earliest possible time., (Copyright © 2012 Wiley Periodicals, Inc.)

Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) (n = 63), using an adapted Dutch version of the 'Parental Questionnaire: Enuresis/Urinary Incontinence' (Beetz et al. 1994). Also, incontinence in RS was compared to a control group consisting of females with non-specific (mixed) intellectual disability (n = 26). Urinary incontinence (UI) (i.e., daytime incontinence and nocturnal enuresis) and faecal incontinence (FI) were found to be common problems among females with RS that occur in a high frequency of days/nights. UI and FI were mostly primary in nature and occur independent of participants' age and level of adaptive functioning. Solid stool, lower urinary tract symptoms and urinary tract infections (UTI's) were also common problems in females with RS. No differences in incontinence between RS and the control group were found, except for solid stool that was more common in RS than in the control group. It is concluded that incontinence is not part of the behavioural phenotype of RS, but that there is an increased risk for solid stool in females with RS.

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., (Copyright © 2011 Elsevier Inc. All rights reserved.)

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., (Crown Copyright © 2011. Published by Elsevier Ireland Ltd. All rights reserved.)

Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in MECP2, large retrospective genotype-phenotype correlation studies have been performed. A number of general genotype-phenotype relationships were confirmed and specific disorder profiles were described. Nevertheless, conflicting results are still under discussion, partly due to the variability in classification of mutations, assessment tools, and structure of the data sets. The aim of this study was to investigate relationships between genotype and specific clinical data collected by the same experienced physician in a well-documented RTT cohort, and evaluate its prognostic value in counseling young parents with a newly diagnosed RTT girl regarding her future outcome. The Maastricht-Leuven Rett Syndrome Database is a register of 137 molecularly confirmed clinical RTT cases, containing both molecular and clinical data on examination and follow up by the same experienced physician. Although the general genotype-phenotype relationships were confirmed, the clinical severity was still found to be very variable. We therefore recommend caution in using genotype-phenotype data in the prognosis of outcome for children in Rett syndrome. Early diagnosis, early intervention, and preventive management are imperative for better outcomes and better quality of daily life for RTT females and their families., (Copyright © 2011 Wiley Periodicals, Inc.)

Background: Triple X syndrome (47,XXX or trisomy X) is a relatively frequent cytogenetic condition with a large variety of physical and behavioural phenotypes., Method: Two adult patients with a triple X karyotype are described., Results: Their karyotype was unknown until some years ago. What these patients have in common is that they were diagnosed with a broader autism phenotype, they were sexually abused, they suffer from psychotic illness and they show challenging behaviour, suicidality and a decline in occupational capacity., Discussion: These gene-environment interactions are discussed. Gene-environment interactions may explain the variety of behavioural and psychiatric phenotypes in triple X syndrome. Ongoing atypical development in adults is hypothesized., Conclusions: Gene-environment interactions and ongoing atypical development in adults should be taken into account in research concerning the psychiatric phenotype of developmental disorders, especially those involving triple X syndrome.

Despite their good appetite, many females with Rett syndrome (RTT) meet the criteria for moderate to severe malnutrition. Although feeding difficulties may play a part in this, other constitutional factors such as altered metabolic processes are suspected. Irregular breathing is a common clinical feature, leading to chronic respiratory alkalosis or acidosis. We assumed that these changes in intracellular pH cause disturbances in the metabolic equilibrium, with important nutritional consequences. The study population consisted of a group of thirteen well-defined RTT girls with extended clinical, molecular and neurophysiological assessments. Despite normal levels of total dietary energy and protein intakes, malnutrition was confirmed based on significantly low fat-free mass index (FFMI) values. Biochemical screening of multiple metabolic pathways showed significantly elevated plasma creatine concentrations and increased urinary creatine/creatinine ratio in five RTT girls. Four girls, 10 years and older, were forceful breathers, one 13-year-old girl had an undetermined cardiorespiratory phenotype. An isolated increase of the urinary creatine/creatinine ratio was seen in two girls, a 9-year old forceful and a 4-year old feeble breather. Given that the young girls are feeble breathers and the older girls are forceful breathers, it is impossible to determine whether the elevated creatine concentrations are due to increasing age or cardiorespiratory phenotype. Furthermore, MeCP2 deficiency may cause epigenetic aberrations affecting the expression of the creatine-transporter gene, which is located at Xq28. Further studies are required to confirm these findings and to provide greater insight into the pathogenesis of the abnormal creatine metabolism in RTT.

Objective: To assess the functions of challenging behaviour in four children with Angelman syndrome (AS) and to study the effects of functional communication training (FCT) with precursor-based prompting. This study builds on and extends the study of Allen et al., Method: Experimental functional analysis assessed behavioural functions. FCT was implemented within an ABAB design and effect sizes were calculated. Burst analyses depict tendencies in (precursor) behaviours surrounding target behaviours., Results: Results show challenging behaviour to be aimed at receiving attention, tangibles or escape. Burst analysis designated physical and eye contact and reaching for tangibles as precursors. Effects of FCT ranged from small to large., Conclusion: Behavioural functions for challenging behaviour were found and FCT was effective in reducing its frequency, when precursors were used as the onset of prompting. Functional equivalence between challenging and communicative behaviour was found. Implementing treatment for challenging behaviour based on precursors is advised.

We examined the psychometric properties of one part of the Sleep Questionnaire developed by Simonds and Parraga (SQ-SP; 1982), a questionnaire that is frequently used to explore sleep problems and behaviors related to sleep in individuals with intellectual disability (ID). The SQ-SP was completed for 345 individuals with ID (sleep clinic n = 146; control group n = 103; published studies n = 68; psychiatric clinic n = 28). Internal consistency was good (Cronbach's α = .80) and test-retest reliability for the total SQ-SP score was also good (Spearman's rank correlation = .83, p<.01). Convergent validity was adequate (r = .79, p<.001) and concurrent validity was satisfactory (r = .52, p<.001). Exploratory factor analysis suggested a 5-factor structure (Snoring, Daytime sleepiness, Complaints related to sleep, Sleep apnea and Anxiety related to sleep). Internal consistency of the five factors ranged from modest (Cronbach's α = .57) to good (Cronbach's α = .82). Confirmatory factor analysis corroborated the 5-factor structure. The Composite Sleep Index, the total SQ-SP score and the factor scores on Daytime Sleepiness and Complaints related to sleep were able to differentiate the control group from the sleep clinic group. The SQ-SP appears to be a reliable and valid tool in assessing sleep and different types of sleep disturbance in individuals with ID., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Prader-Willi syndrome (PWS) is a genetic disorder which is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and adolescence, this is followed by hyperphagia and extreme obesity if the diet is not strictly controlled. Data on physical health problems in adults with PWS are scarce. We report on the prevalence of physical health problems in a Dutch cohort of adults with PWS in relation to age, BMI, and genetic subtype. Participants (n = 102) were retrieved via the Dutch Prader-Willi Parent Association and through physicians specializing in persons with intellectual disabilities (ID). Details regarding physical health problem spanning the participants' lifespan were collected from caretakers through semi-structured interviews. Cardiovascular problems included diabetes mellitus, hypertension, and cerebrovascular accidents. Respiratory infections were frequent in adulthood. In males, cryptorchidism was almost universal, for which 28/48 males had a history of surgery, mostly orchidopexy. None of the women had a regular menstrual cycle. Sixteen individuals had a diagnosis of osteoporosis. Spinal deformation, hip dysplasia, and foot abnormalities were common. Skinpicking, leg edema, and erysipelas were frequent dermatological problems. The findings in our group support the notion that the prevalence of physical health problems is underestimated. This underscores the importance of developing monitoring programs which would help to recognize physical health problems at an early stage., (Copyright © 2011 Wiley-Liss, Inc.)

Previous studies have suggested an association between PWS and comorbid psychiatric illness. Data on prevalence rates of psychopathology is still scarce. This paper describes a large-scale, systematic study investigating the prevalence of psychiatric illness in a Dutch adult PWS cohort. One hundred and two individuals were screened for psychiatric illness. Case vignettes were written by the first author on 63 individuals with a positive screening on psychopathology according to the interviews, medical history, medication use and behavioural questionnaires. These case vignettes were rated by two psychiatrists specializing in intellectual disability (ID). Psychopathology was divided into four diagnostic categories: bipolar disorder with psychotic symptoms, psychotic illness, depressive illness with psychotic symptoms and depressive illness without psychotic symptoms. Nine out of 53 persons (17%) with a 15q11-13 deletion and 28 out of 44 (64%) persons with maternal uniparental disomy (mUPD) were diagnosed with a current or previous psychiatric illness. Depressive illness with psychotic symptoms was the cause of psychiatric problems in the majority of persons with PWS due to deletion (56%). In the case of mUPD, almost all individuals with histories of psychopathology suffered from psychotic symptoms (85%) with or without affective component. Psychiatric examination should be part of general management of adults with PWS, especially when caused by mUPD. More attention should be paid to the presence of precursor symptoms, indicating a developing psychiatric episode. Longitudinal studies are needed to gain more insight into the natural history of psychiatric illness in adults with PWS., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

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., (Copyright © 2011 Elsevier Inc. All rights reserved.)