Out-of-hours primary care for people with intellectual disabilities: interviews in general practice.

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.

"Constructing a health assessment questionnaire for people with intellectual disabilities: A cognitive interview study".

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.

The convergent validity of a Dutch Screening tool for Dysphagia (Signaleringslijst Verslikken) for people with severe or profound intellectual and multiple disabilities.

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.

Health problems of people with intellectual disabilities in Dutch out-of-hours primary care.

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.

Development of a health assessment instrument for people with intellectual disabilities: a Delphi study.

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.

Does risk and urgency of requested out-of-hours general practitioners care differ for people with intellectual disabilities in residential settings compared with the general population in the Netherlands? A cross-sectional routine data-based study.

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.

Priority-setting and feasibility of health information exchange for primary care patients with intellectual disabilities: A modified Delphi study.

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).

After-hours primary care for people with intellectual disabilities in The Netherlands-Current arrangements and challenges.

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.

Experiences of patients with intellectual disabilities and carers in GP health information exchanges: a qualitative study.

Background: Accurate health information exchange (HIE) is pivotal for good quality of care. However, patients with intellectual disabilities (ID) face challenges in processing and exchanging health information around GP consultations. Knowledge of HIE barriers and facilitators, including the roles of carers, may help to improve GP care for people with ID.

Training on intellectual disability in health sciences: the European perspective.

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.

[Nothing about us without us: health care research with people with intellectual disabilities].

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.

Dysfluencies in the speech of adults with intellectual disabilities and reported speech difficulties.

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.

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

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.

End-of-life decisions for people with intellectual disabilities, an interview study with patient representatives.

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.

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.

Sampling and ethical issues in a multicenter study on health of people with intellectual disabilities.

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.

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-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.

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.

Health problems of people with intellectual disabilities: the impact for general practice.

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.

Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma.

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).