Henny M.J. van Schrojenstein Lantman-de Valk

Managing health problems in people with intellectual disabilities

#### Summary pointsnnPeople with intellectual disabilities have a higher prevalence of health problems than the general public, and their health needs are often unrecognised and unmet.1 People with intellectual and other disabilities are also more likely to develop secondary health conditions.w1 Improving the health of people with disabilities during their lives is a specific aim of the Healthy People 2010 initiative in the United States,2 the Valuing People initiative in the United Kingdom,w2 and the Pomona project (www.pomonaproject.org),3 a public health initiative funded by the European Union to develop and test a set of health indicators for people with disabilities.nnA recent randomised controlled trial on annual health screening in people with intellectual disabilities found an improvement in health in the intervention group.4 Nevertheless, epidemiological research on the health of people with intellectual disabilities is limited. We present here an up-to-date overview for medical generalists.nnEpidemiological research shows a prevalence of intellectual disability of about 0.7% (a figure mostly derived from service registrations—funding bodies or service providers).5 w3nnIn a recent conceptual review, Mont challenges the usefulness of a single summary indicator to capture disability,6 which is not a health condition borne by an individual. Rather, disability is, he says, “complex and multifaceted, with …

Physical Health Problems in Adults With Prader-Willi Syndrome

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 (nu2009=u2009102) 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.

Is Sanfilippo Type B in Your Mind When You See Adults With Mental Retardation and Behavioral Problems

Sanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of N‐acetyl‐α‐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.

Healthcare transition in persons with intellectual disabilities: General issues, the Maastricht model, and Prader–Willi syndrome†

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.

The use of medical care and the prevalence of serious illness in an adult Prader-Willi syndrome cohort.

INTRODUCTIONnAdults 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.nnnMETHODnParticipants 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.nnnRESULTSnThe 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.nnnDISCUSSIONnPeople 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.

The Internal and External Social integration of Group Home Residents in the Netherlands

In the 1960s and 1970s. group homes for people with a mental handicap — small-scale living accommodation integrated in the community of a town or village — were founded in the Netherlands in order to improve the integration of mentally handicapped people and to promote normalization. However. the results of a study of mental handicap and ageing among residents of group homes (n=770) show that only one quarter of the residents are reasonably or well integrated into the community (external social integration). About three quarters are reasonably or well integrated within the group home (internal social integration). A comprehensive care system for elderly residents is discussed, including the need to integrate them into day programmes for ordinary elderly people.

Development and applicability of a tool for identification of people with intellectual disabilities in need of palliative care (PALLI)

BACKGROUNDnTimely identifying people with intellectual disabilities in need of palliative care is important. Therefore, we developed PALLI: a screening tool for deteriorating health, indicative of a limited life expectancy. Here, we aimed to describe development of PALLI and to explore its applicability.nnnMETHODnWe used a five-stage mixed-methods procedure to develop PALLI based on knowledge from practice. For exploring applicability, professionals caring for people with intellectual disabilities completed PALLI for 185 people with intellectual disabilities and provided information on applicability after 5-6xa0months.nnnRESULTSnThe final version of PALLI included 39 questions relevant for people with intellectual disabilities. Applicability was adequate: Most professionals found PALLI relevant and reported no ambiguous questions. Added value of PALLI was reflecting on and becoming aware of the process of decline in health.nnnCONCLUSIONSnPALLI shows promising applicability and has potential as a tool for timely identifying people with intellectual disabilities who may benefit from palliative care.