BackgroundThe first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac and... Show moreBackgroundThe first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac and urogenital malformations. The aim of this study was to assess the prevalence of congenital abnormalities in an unbiased cohort of patients with FOXP1 syndrome and to document rare complications.MethodsPatients with FOXP1 syndrome were included, mostly diagnosed via whole-exome sequencing for neurodevelopmental delay. A parent-report questionnaire was used to assess medical signs and symptoms, including questions about features rated as most burdensome by patients and their family.ResultsForty individuals were included, 20 females and 20 males. The mean age at assessment was 13.2 years (median 8.5 years; range 2-54 years; >= 18 years n = 7). Seven adults were included. All patients had developmental problems, including cognitive, communication, social-emotional and motor delays. The most prevalent medical signs and symptoms include delayed bladder control, sleeping problems, hypermetropia, strabismus, sacral dimple, undescended testes, abnormal muscle tone and airway infections. The most burdensome complaints for patients with FOXP1 syndrome, as perceived by parents, include intellectual disability, impaired communication, behaviour problems, lack of age-appropriate self-reliance, attention problems and anxiety. According to parents, patients have quite similar reported symptoms, although incontinence, obsessions and a complex sensory profile have a higher ranking.ConclusionThe results of this study may be used to further guide medical management and identify patient priorities for future research targeted on those features of FOXP1 syndrome that most impair quality of life of patients and their families. Show less
Pouls, K.P.M.; Cuypers, M.; Mastebroek, M.; Wieland, J.; Koks-Leensen, M.C.J.; Leusink, G.L.; Assendelft, W.J.J. 2023
BackgroundAdults with mild intellectual disability (MID) experience more mental health disorders than the general population. However, mental healthcare may be insufficiently tailored to match... Show moreBackgroundAdults with mild intellectual disability (MID) experience more mental health disorders than the general population. However, mental healthcare may be insufficiently tailored to match their needs. Detailed information is lacking regarding care provided to people with MID in mental health services. AimsTo compare mental health disorders and care provided to patients with and without MID in Dutch mental health services, including patients with missing MID status in the service files. MethodIn this population-based database study, we used a Statistics Netherlands mental health service database, containing health insurance claims of patients who utilised advanced mental health services in 2015-2017. Patients with MID were identified by linking this database with Statistic Netherlands' social services and long-term care databases. ResultsWe identified 7596 patients with MID, of whom 60.6% had no intellectual disability registration in the service files. Compared with patients without intellectual disability (n = 329 864), they had different profiles of mental health disorders. They received fewer diagnostic (odds ratio 0.71, 95% CI 0.67-0.75) and treatment activities (odds ratio 0.56, 95% CI 0.53-0.59), and required more interprofessional consultations outside of the service (odds ratio 2.06, 95% CI 1.97-2.16), crisis interventions (odds ratio 2.00, 95% CI 1.90-2.10) and mental health-related hospital admissions (odds ratio 1.72, 95% CI 1.63-1.82). ConclusionsPatients with MID in mental health services have different profiles of mental health disorders and care than patients without intellectual disability. In particular, fewer diagnostics and treatments are provided, especially in those with MID with no intellectual disability registration, putting patients with MID at risk of undertreatment and poorer mental health outcomes. Show less
Steeds vaker treffen concurrenten elkaar bij de bestuursrechter. Dat is niet zo vreemd. Besluiten van de overheid kunnen immers grote gevolgen hebben voor de concurrentiepositie van ondernemers.... Show moreSteeds vaker treffen concurrenten elkaar bij de bestuursrechter. Dat is niet zo vreemd. Besluiten van de overheid kunnen immers grote gevolgen hebben voor de concurrentiepositie van ondernemers. In dit boek staat de vraag centraal hoe in het Nederlandse bestuursrecht, dat van oudsher is gericht op de bescherming van burgers tegen de overheid, wordt omgegaan met de gevolgen van besluiten voor concurrentieverhoudingen. Het onderzoek behelst een diepgravende studie naar de bescherming van concurrentiebelangen in het bestuursrecht en is gericht op het identificeren van mogelijke knelpunten die zich daarbij voordoen. Drie knelpunten komen in het bijzonder aan bod: de toegang tot de bestuursrechtelijke procedure, het doelgebonden karakter van bestuursbevoegdheden (specialiteit) en het relativiteitsvereiste. Deze knelpunten worden beschreven, geanalyseerd en in Unierechtelijk perspectief geplaatst. Aan het slot wordt een concreet voorstel gedaan om de bescherming van concurrentiebelangen in het bestuursrecht te verbeteren. Show less
Background Diagnostics and care for people with intellectual disabilities (ID) and psychiatric disorders need to be improved. This can be done by using assessment instruments to routinely measure... Show moreBackground Diagnostics and care for people with intellectual disabilities (ID) and psychiatric disorders need to be improved. This can be done by using assessment instruments to routinely measure the nature and severity of psychiatric symptoms. Up until now, in the Netherlands, assessment measures are seldom used in the psychiatric care for this population. The objective of the present paper is to evaluate the use of the Brief Symptom Inventory (BSI), a widely used standardised questionnaire in general psychiatry, in a well-defined sample of people with borderline intellectual functioning or mild ID diagnosed with one or more psychiatric disorders. Methods A total of 224 psychiatric outpatients with either borderline intellectual functioning or mild ID participated in this study. All participants were new patients of Kristal, Centre for Psychiatry and Intellectual Disability in the Netherlands, in the period between 1 April 2008 and 1 October 2009. All participants were assessed by a multidisciplinary team, including a certified psychiatrist. Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) criteria were applied. The mean total intelligence quotient was measured with the Wechsler Adult Intelligence Scale (WAIS-III). The BSI was administered in an assisted fashion. Utility and psychometric properties of the BSI were investigated. Internal consistency coefficients (Cronbach's alphas) were computed. Bivariate correlations between the sub-scales were computed to assess differentiation between the scales. Mean sub-scale scores were compared between different DSM-IV-TR subgroups to investigate the discriminant abilities of the scales. A confirmatory factor analysis was conducted. Results The results suggest that the BSI is practically useful. Internal consistencies ranged from 0.70 to 0.96 and thus are considered good to adequate. Sub-scale inter-correlations showed there is a degree of differentiation between the sub-scales. Discriminant validity was shown for the sub-scales depression, anxiety and phobic anxiety. Confirmatory factor analysis showed that the underlying structure of the BSI could be described by the same nine-factor model as reported in previous studies. Conclusions As a result of the psychometric properties illustrated, this study supports the use of the BSI as a screener for psychopathology and a general outcome measure in people with ID. Show less
