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Introduction: Health assessment instruments can help to raise awareness among general practitioners of specific health problems in people with intellectual disabilities (PID). The present authors developed a health assessment questionnaire using the cognitive interview technique (CI) to improve the comprehensibility. The utility of this approach to questionnaire development involving PID is assessed. Method: A qualitative approach using the CI was employed. The study included PID and their caregivers. The present authors interviewed 14 participants in 5 subsequent rounds. After each round, the questionnaire was adjusted until saturation was reached. Results: Three hundred and sixty three identified problems led to 316 changes to the questionnaire. Most problems (102) concerned the comprehension of the question, followed by problems in the "missing answer categories" and "inaccurate instruction" section. Conclusion: The comprehensible health assessment questionnaire can help PID to take an active role in communication with their GP. The use of CI helped to improve the questionnaire. CI is a usable and valuable procedure for PID.

Taking the dynamics of everyday life into account is important for health behavior change. Surveys were conducted to gain insight into available health promoting physical activity and nutrition initiatives in the everyday life of people with intellectual disability (ID). Researchers considered characteristics of the initiatives and the attention they give to resources and hindering factors of healthy living for people with ID. The 47 initiatives mostly focused on physical activity and consisted of regularly organized, stand-alone activities. Care professionals, rather than health professionals, were involved. Organizational resources and hindering factors received relatively little attention. Health promotion for people with ID could benefit from incorporating health behavior into routines of daily living, focusing more attention on organizational resources, and improving the collaboration between health professionals and care professionals.

The prevalence of underweight status is relatively high in persons with intellectual disabilities. However, it is not clear whether this is due to malnourishment. The authors sought to examine the awareness and knowledge of physicians, dieticians, and direct care staff regarding malnutrition in people with intellectual disabilities. They also sought to obtain information about their experience with problems and possible solutions. Semi-structured interviews were held with a cross-section of physicians, dieticians, and direct care staff working with people with intellectual disabilities at six different service providers in the Netherlands. Dieticians and physicians noted that malnutrition is prevalent in persons with intellectual disabilities that they see, but they were uncertain about why this is the case. On the contrary, direct care staff were convinced that malnutrition was not present. Screening of high-risk persons for the presence of malnutrition is advised. In addition, the authors recommended education of direct care staff about healthy nutrition and weight and the development of a screening instrument for malnutrition specifically for people with intellectual disabilities.

Background: The aim was to study the weight and weight status of the study group in 2002 and 2007, and to study the differences in weight and weight status between 2002 and 2007 and the risk groups for (becoming) overweight/obese. Materials and Methods: The Body Mass Index (BMI) of 336 clients of a Dutch service provider for persons with intellectual disabilities was calculated in 2002 and 2007. Results: The mean increase in BMI between 2002 and 2007 was 0.8 (2.2 kg). In 2002, 36% of the study group was overweight/obese; this was higher in 2007: 45%. The expected relationship between increase in BMI and the change in living circumstances could not be confirmed. Conclusions: Further research into health-control programmes, weight status, food-intake and physical exercise is recommended.

Background: Out-of-hours primary care for people with intellectual disabilities (ID) involves different groups of health care professionals, who are often not familiar to one another nor to the specific health care needs of this vulnerable population. It is not known to what extend these specific health care needs or organizational factors influence the delivery of out-of-hours primary care for people with ID.Objective: The objective of this study is to explore the experiences of health care professionals regarding the medical content and the organizational context of out-of-hours primary care for people with ID.Methods: Semi-structured interviews were conducted with daily care professionals, triage nurses and general practitioners (GPs) involved in out-of-hours primary care for people with ID in the Netherlands. Interviews were thematically analysed for medical content and organizational context.Results: The analysis resulted in four interconnected themes: (i) uncertainties in the triage assessment of ID patients; (ii) confusion about inter-professional responsibilities; (iii) impact on routines and workflow concerning ID patients and (iv) constraints in the decision-making process. All issues raised were related to the organizational context.Conclusions: Health care professionals involved in out-of-hours primary care for people with ID indicate that the quality of this care is more influenced by the organizational context than by the medical content. We recommend out-of-hours GP services and care provider services for people with ID to set standards for roles and responsibilities in order to facilitate health care professionals in delivering accessible and high-quality care to this vulnerable population. [ABSTRACT FROM AUTHOR]

Background: People with intellectual disabilities (IDs) experience health inequalities. Applying health assessments is one way of diminishing these inequalities. A health assessment instrument can support general practitioners (GPs) in providing better medical care to people with ID.Objectives: The aim of this study was to determine which items should be part of a health assessment instrument for people with ID to be used in primary care.Methods: This Delphi consensus study was conducted among 24 GP experts and 21 ID physicians. We performed three anonymous sequential online questionnaire rounds. We started with 82 'general' items and 14 items concerning physical and additional examinations derived from the international literature and a focus group study among Dutch GPs. We definitely included items if more than 75% of the GP experts agreed on their inclusion.Results: The participation rate in all rounds was above 88%. The expert groups proposed 10 new items. Consensus was reached on 64 'general' items related to highly prevalent diseases, public health and health promotion. Consensus was also reached on 18 physical and additional examination items.Conclusions: For the first time, experts in a Delphi study were able to arrive at a selection of items for a health assessment instrument for people with ID. The overall agreement among the GPs and ID physicians was good. Because the experts prefer that patients complete the health assessment questionnaire at home, questions that cover these items must be formulated clearly. [ABSTRACT FROM AUTHOR]

Objectives To investigate whether people with intellectual disabilities (ID) in residential setting were more likely than people from the general population to request out-of-hours general practitioner (GP) care and whether these requests had a similar level of urgency. Design Cross-sectional routine data-based study. Setting Two GP cooperatives providing out-of-hours primary care in an area in the Netherlands. Population 432 582 persons living in the out-of-hours service areas, of which 1448 could be identified as having an ID. Main outcome measures GP cooperative records of all contacts in 2014 for people with and without ID were used to calculate the relative risk of requesting care and the associated level of urgency. Results Of the people with ID (448/1448), 30.9% requested out-of-hours GP care, whereas for the general population this was 18.4% (79 206/431 134), resulting in a relative risk of 1.7 (95% CI 1.6 to 1.8). We found a different distribution of urgency level for people with and without ID. Generally, requests for people with ID were rated as less urgent. Conclusion People with ID in residential setting were more likely to request out-of-hours GP care than the general population. The distribution of the urgency level of requests differed between the two groups. The high percentage of demands relating to people with ID requesting counselling and advice suggests that some out-of-hours GP care may be avoidable. However, more insight is needed into the nature of out-of-hours primary care requests of people with ID to direct structural and reasonable adjustments towards the improvement of health information exchange in and around-the-clock access to primary care for people with ID. [ABSTRACT FROM AUTHOR]

Background: GPs provide health care to people with intellectual disabilities (ID). People with ID find it difficult to express themselves concerning health-related matters. Applying health assessments is an effective method to reveal health needs, and can play a role in prevention and health promotion.Aim: The aim of this qualitative study was to explore GPs' considerations about applying a health assessment for people with ID.Design and Setting: This focus group study was conducted among a selection of Dutch GPs.Method: An interview guide was developed. All discussions were audiorecorded and transcribed. Analysis was performed using the framework analysis approach. Two researchers independently applied open coding and identified a thematic framework. This framework and the summaries of views per theme were discussed in the research team.Results: After four focus groups, with 23 GPs, saturation was reached. Three main themes evolved: health assessments in relation to GPs' responsibility; the usefulness and necessity of health assessments; and barriers to using health assessments on people with ID. A health assessment instrument for people with ID can help GPs to focus on certain issues that are not so common in the general population. GPs are motivated to use such a tool if it is scientifically tested, and results in significant health gains. However, GPs identify barriers at the level of GP, patient, and organisation.Conclusion: Most GPs in the focus groups consider providing medical care to people with ID their responsibility and indicate that a health assessment instrument could be a valuable tool. In order to deliver good care, they need education and support. Many barriers need to be overcome before a health assessment instrument can be implemented. [ABSTRACT FROM AUTHOR]

Background: Inadequate health information exchange (HIE) between patients with intellectual disabilities (ID), their carers, and GPs may lead to ineffective treatment and poor treatment compliance. Factors influencing HIE are largely unexplored in previous research.Aim: To provide insight into the perceived HIE facilitators of GPs and general practice assistants, and the barriers in GP consultations for patients with ID.Design and Setting: An interview-based study with GPs (n = 19) and general practice assistants (n = 11) in the Netherlands.Method: Semi-structured interviews were conducted on topics relating to stages during and around GP consultation. Transcripts were coded and analysed using framework analysis.Results: The main themes were impaired medical history taking and clinical decision making, and fragile patient follow-up. Factors negatively influencing HIE related to patient communication skills and professional carers' actions in preparing the consultation and in collecting, recording, and sharing information. HIE barriers resulted in risk of delay in diagnosis and treatment, misdiagnosis, unnecessary tests, and ineffective treatment regimens. HIE facilitators were described in terms of GP adjustments in communication, planning of consultations, and efforts to compensate for fragile follow-up situations.Conclusion: Inadequate HIE should be seen as a chain of events leading to less effective consultations, substandard treatment, and insufficient patient follow-up. The results indicate a mismatch between GPs' expectations about professional carers' competencies, responsibilities, and roles in HIE and the setting in which professional carers operate. Further research should focus on how daily GP practice can be attuned to the practicalities of HIE with patients with ID and their professional carers. [ABSTRACT FROM AUTHOR]

Background: Intellectual disability (ID) has consequences at all stages of life, requires high service provision and leads to high health and societal costs. However, ID is largely disregarded as a health issue by national and international organisations, as are training in ID and in the health aspects of ID at every level of the education system. Specific aim: This paper aims to (1) update the current information about availability of training and education in ID and related health issues in Europe with a particular focus in mental health; and (2) to identify opportunities arising from the initial process of educational harmonization in Europe to include ID contents in health sciences curricula and professional training. Method: We carried out a systematic search of scientific databases and websites, as well as policy and research reports from the European Commission, European Council and WHO. Furthermore, we contacted key international organisations related to health education and/or ID in Europe, as well as other regional institutions. Results: ID modules and contents are minimal in the revised health sciences curricula and publications on ID training in Europe are equally scarce. European countries report few undergraduate and graduate training modules in ID, even in key specialties such as paediatrics. Within the health sector, ID programmes focus mainly on psychiatry and psychology. Conclusion: The poor availability of ID training in health sciences is a matter of concern. However, the current European policy on training provides an opportunity to promote ID in the curricula of programmes at all levels. This strategy should address all professionals working in ID and it should increase the focus on ID relative to other developmental disorders at all stages of life. [ABSTRACT FROM AUTHOR]

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Copyright of Journal of Hearing Science is the property of Institute of Sensory Organs and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Dysphagia is potentially life-threatening and highly prevalent in people with severe/profound intellectual and multiple disabilities (SPIMD). The "Signaleringslijst Verslikken" (SV) is a frequently used Dutch screening tool to detect dysphagia. The aim was to examine the convergent validity of the SV for people with SPIMD., Method: Direct support staff completed the SV, with speech and language therapists scoring a validated tool, the Dysphagia Disorders Survey (DDS), for 41 persons with SPIMD, aged ≥50 years. The results were compared for agreement using the McNemar's Test., Results: The proportion of agreement was 0.59 (95% CI 0.43-0.72). The SV did not detect dysphagia in 17 participants (44%) who were assessed as having dysphagia according to the DDS. The difference in proportion of detection of dysphagia between the two methods was significant (p < 0.0001)., Conclusions: The results suggest that the convergent validity of the SV is insufficient: the SV is not sensitive for detecting dysphagia in people with SPIMD., (© 2019 John Wiley & Sons Ltd.)

Background: Little is known about the health needs of people with intellectual disabilities who access out-of-hours primary care services, raising concerns about accessibility and quality of care for this group. This study aims to identify commonly presented health problems of people with intellectual disabilities in this specific setting compared with the general population., Method: Cross-sectional study with routine data at two out-of-hours cooperatives with a total of 41,166 persons aged 20-65 requesting outof-hours primary care in 2014, of which 315 persons were identified as having an intellectual disability., Results: Having an intellectual disability was associated with a higher probability of presenting with epilepsy (OR 45.65) and concerns about, and adverse effects of, medical treatment (OR 23.37, and 8.41, respectively)., Conclusions: Given the high rates of epilepsy and medication-related concerns of people with intellectual disabilities, this study suggests that these issues require special attention to improve the accessibility and quality of out-of-hours primary care., (© 2018 John Wiley & Sons Ltd.)

Objective: Accurate health information exchange (HIE) is fragile in healthcare for patients with intellectual disabilities (ID), threatening the health outcomes for this patient group. In conjunction with a group of experts, we aimed to identify the principal actions and organisational factors facilitating HIE for primary care patients with ID and to assess their perceived feasibility in daily practice., Methods: We conducted a two-round modified Delphi study with Dutch GPs (n=22), support workers (n=18) and ID physicians (n=20). In an extensive set of 61 items covering actions and organisational factors, experts ranked items in order of importance and rated their feasibility., Results: Agreement was reached on the importance of 22 actions and eight organisational factors, of which 82% were deemed (very) feasible in daily practice. Experts stressed the importance of listed actions and factors being implemented simultaneously and remarked that further priority should be based on contextual demands., Conclusion and Practice Implications: This study indicates the principal actions and organisational factors for HIE regarding primary care patients with ID. The set can be used as a practical guide to optimise inter-professional cooperation and arrange the distribution of HIE roles and responsibilities in relation to this patient group., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Background: Little is known about the organisation of after-hours primary care for people with intellectual disabilities (ID), and mainstream care is not self-evidently accessible or fit for this group. A first step towards improvement is a greater understanding of current after-hours primary ID care., Aims: This study explores the organisation of and experiences with after-hours primary care provided for people with ID in The Netherlands., Methods and Procedures: A telephone survey amongst 68 care provider services including questions on organisational characteristics, problem areas, facilitators, and inhibitors., Outcomes and Results: A multitude of different after-hours primary care arrangements were found. Primary care physicians (PCPs) were involved in almost all care provider services, often in alliance with PCP cooperatives. Specialised ID physicians had differing roles as gatekeeper, primary caregiver, or consultant. Most problems during the after-hours arose regarding daily care professionals' competences. Facilitators and inhibitors of after-hours primary care were themed around complexity of, and need for, specialised care, multidisciplinary team of professionals, communication and information, and prerequisites at organisational level., Conclusions and Implications: Evidence on specific after-hours health needs of people with ID is needed to strengthen collaboration between specialist ID care services and mainstream healthcare services to adequately provide care., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

While the patients' perspective has been included in health care research, the participation of people with intellectual disabilities in research on their health has been limited, and considered to be difficult. However, they are vulnerable and experience more health problems than the general population. Legal issues regarding inclusion of people with intellectual disabilities are clarified in international and Dutch law, and should be respected. Aside from the legally responsible persons, various other stakeholders also play a role, which should be realized and considered when developing research plans. Inclusion of people with intellectual disabilities themselves in research, not only as subjects but also as advisors, researchers and decision-makers could make research more relevant and attractive for themselves, for health practice and for the research community.

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.

Background: In individuals with an intellectual disability, speech dysfluencies are more common than in the general population. In clinical practice, these fluency disorders are generally diagnosed and treated as stuttering rather than cluttering., Purpose: To characterise the type of dysfluencies in adults with intellectual disabilities and reported speech difficulties with an emphasis on manifestations of stuttering and cluttering, which distinction is to help optimise treatment aimed at improving fluency and intelligibility., Method: The dysfluencies in the spontaneous speech of 28 adults (18-40 years; 16 men) with mild and moderate intellectual disabilities (IQs 40-70), who were characterised as poorly intelligible by their caregivers, were analysed using the speech norms for typically developing adults and children. The speakers were subsequently assigned to different diagnostic categories by relating their resulting dysfluency profiles to mean articulatory rate and articulatory rate variability., Results: Twenty-two (75%) of the participants showed clinically significant dysfluencies, of which 21% were classified as cluttering, 29% as cluttering-stuttering and 25% as clear cluttering at normal articulatory rate. The characteristic pattern of stuttering did not occur., Conclusion: The dysfluencies in the speech of adults with intellectual disabilities and poor intelligibility show patterns that are specific for this population. Together, the results suggest that in this specific group of dysfluent speakers interventions should be aimed at cluttering rather than stuttering., Learning Outcomes: The reader will be able to (1) describe patterns of dysfluencies in the speech of adults with intellectual disabilities that are specific for this group of people, (2) explain that a high rate of dysfluencies in speech is potentially a major determiner of poor intelligibility in adults with ID and (3) describe suggestions for intervention focusing on cluttering rather than stuttering in dysfluent speakers with ID., (Copyright © 2013 Elsevier Inc. All rights reserved.)

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.)

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.)

Objectives: To study health inequalities in persons with intellectual disabilities, representative and unbiased samples are needed. Little is known about sample recruitment in this vulnerable group. This study aimed to determine differences in ethical procedures and sample recruitment in a multicenter research on health of persons with intellectual disabilities. Study questions regarded the practical sampling procedure, how ethical consent was obtained in each country, and which person gave informed consent for each study participant., Study Design and Setting: Exploratory, as part of a multicenter study, in 14 European countries. After developing identical guidelines for all countries, partners collected data on health indicators by orally interviewing 1,269 persons with intellectual disabilities. Subsequently, semistructured interviews were carried out with partners and researchers., Results: Identification of sufficient study participants proved feasible. Sampling frames differed from nationally estimated proportions of persons with intellectual disabilities living with families or in residential settings. Sometimes, people with intellectual disabilities were hard to trace. Consent procedures and legal representation varied broadly. Nonresponse data proved unavailable., Conclusion: To build representative unbiased samples of vulnerable groups with limited academic capacities, international consensus on respectful consent procedures and tailored patient information is necessary., (Copyright (c) 2010 Elsevier Inc. All rights reserved.)

In current healthcare, transitional healthcare is a very important and timely issue. Thanks to the major advances made in medical care and technology, many children with childhood onset diseases and/or genetic syndromes survive to adulthood. These children are at risk of not being provided with adequate healthcare as they reach adulthood. Healthcare transition is an essential part of healthcare provision, referred to as the shift from one type of healthcare to another. In Maastricht, we developed a transition/out clinic led by a medical doctor specialized in persons with intellectual disability (ID), together with a clinical geneticist. We aim to coordinate healthcare issues based on guidelines if available. Also questions concerning living, daily activities, relations, sexuality, and sterilization can be discussed. The aging process of persons with ID has been a topic of interest in recent years. Little is known about the aging process of people with specific syndromes, except for persons with Down syndrome. We present some data of a recent questionnaire study in persons with Prader-Willi syndrome. In only 50% in persons with a clinical diagnosis genetic test results could be reported. The majority of persons were obese. Diabetes mellitus, hypertension, skin problems, sleep apnea, and hormonal problems like osteoporosis and hypothyroidism were common. Psychiatric problems were frequent, especially in the persons with uniparental disomy. Osteoporosis and sleep apnoea seem to be underestimated. Further longitudinal research is necessary for a better understanding of the aging process in PWS., ((c) 2007 Wiley-Liss, Inc.)

Sanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of N-acetyl-alpha-D-glucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulfate. It is characterized by neurologic degeneration, behavioral problems, and mental decline. Somatic features are relatively mild and patients with this disorder can reach late adulthood. It is the most common subtype of MPS in the Netherlands and probably underdiagnosed in adult persons with mental retardation (MR). In order to increase knowledge on the adult phenotype and natural history in Sanfilippo type B, we present the clinical data of 20 patients with this disorder. Sixteen of them were followed for one to three decades. Six died between 28 and 69 years of age, mainly from pneumonia and cachexia; the surviving patients were 18-63 years old. Apart from the youngest, they had lost mobility at 36-68 years. Most had developed physical problems, in particular in the 4th-6th decade of life: cardiac disease (cardiomyopathy, atrial fibrillations), arthritis, skin blistering, swallowing difficulties requiring feeding by a gastrostomy tube, and seizures. The course of the disease was dominated in most of them by challenging behavioral problems with restlessness, extreme screaming and hitting, difficult to prevent or to treat pharmaceutically. Even in absence of knowledge of the history of an elderly patient with MR, the presence of behavioral problems should prompt metabolic investigation for MPS., ((c) 2007 Wiley-Liss, Inc.)

This study aimed to analyse the health problems and prescriptions of people with intellectual disabilities registered with GPs. Within the Second Dutch National Survey of General Practice evidence was gathered on the differences in health problems between people with intellectual disabilities and control persons (without intellectual disabilities). In a 1:5 matched sample, people with intellectual disabilities paid 1.7 times more visits to GPs. They presented a different morbidity pattern, and received four times as many repeat prescriptions. People with intellectual disabilities increase a GP's workload.

The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was observed in two brothers with a terminal deletion 4q33-->4qter and a terminal duplication 7q34-->7qter. The aberration was detected by subtelomere FISH screening and (probably) resulted from a cryptic familial translocation (4;7)(q33;q34).