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Background: Marshall-Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and autism in six patients. Methods: Information on development, behavioural characteristics, autism symptoms, and adaptive and psychological functioning of six MSS children was collected through in-person examinations, questionnaires, semi-structured interviews of parents and neuropsychological assessments. Results: Participants showed moderate to severe delays in mental age, motor development and adaptive functioning, with several similarities in communication, social interactions and behaviour. There was severe delay of speech and motor milestones, a friendly or happy demeanour and enjoyment of social interactions with familiar others. They exhibited minimal maladaptive behaviours. Deficits in communication and social interactions, lack of reciprocal social communication skills, limited imaginary play and the occurrence of stereotyped, repetitive behaviours were noted during assessments. Conclusions: Systematic collection of developmental and behavioural data in very rare entities such as MSS allows recognition of specific patterns in these qualities. Clinical recognition of physical,developmental and behavioural features is important not only for diagnosis, prognosis and counselling of families, but also increases our understanding of the biological basis of the human physical and behavioural phenotype.

The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF). This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physician are addressed. A surveillance scheme and emergency card is provided and disciplines participating in a multidisciplinary team for PMS are described. Additionally, recommendations are provided for transition from paediatric to adult care. This care proposition may also be useful for individuals with other rare genetic neurodevelopmental disorders., (Copyright © 2023 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

Background: COVID-19 affected our collective well-being. Measures during a pandemic may disproportionately impact individuals with mental illness., Aim: To measure the impact of COVID-19 on clients of FACT and autism teams over three waves., Method: Through a digital questionnaire participants (wave 1: n=100; wave 2: n=150; Omikron wave: n=15) reported on: , 1. mental health, 2. outpatient care experiences, 3. government measures and information services., Results: Happiness was rated on average with a 6 in the first two waves, positive consequences of wave 1 (clearer world, more reflection) persisted. The most frequently mentioned negative consequences were: decreased social interactions, increased mental problems and daily functioning. No new experiences were mentioned during the Omikron wave. The quality and amount of mental health care was rated ≥7 by 75-80%. Phone and video consultations were the most frequently mentioned positive care experience; missing face-to-face contact was considered most negative. Measures were harder to sustain in the second wave. Vaccination readiness and vaccination coverage were high., Conclusion: All COVID-19-waves show a consistent picture. Telepsychiatry was evaluated positively. Considering the results, the mental health sector could be ready for a next lockdown taking into account possibly higher expectations of clients.

Background: Most research focuses on the impact of COVID-19 for the general population. People with mental health problems may suffer even more from its consequences., Aim: Measuring mental health, experiences with outpatient care and government measures of 105 people in mental health care in the Northern Netherlands during the first wave of COVID-19., Method: Anonymous, online survey among people in care with autism- or FACT-teams in the Northern Netherlands between July-September 2020., Results: Few participants reported recent COVID-19-related symptoms (n=2); no participant had lab-confirmed COVID-19. Both positive (clear world, tranquility, few stimuli: 28%) and negative experiences (missing face-to-face contact with mental health care professionals: 22%) were reported. Although there was some fluctuation in happiness, the average happiness score did not change due to the first wave. Three-quarters were satisfied with their mental health care. Although in-person contact with mental health care professionals was missed, the continuation of care through (video)calling was appreciated. One third reported an increased or new care need in mental health symptoms or daily functioning. The 'physical' government measures were considered pleasant and doable, but 'social' measures were harder. Newsletters with practical information about the consequences of the measures for personal healthcare were appreciated., Conclusion: The results show a nuanced picture of how outpatients experienced the first wave of COVID-19. Continued monitoring is important, as long-term impact of COVID-19 cannot be predicted.

Background: Ten per cent of patients with obsessive-compulsive disorder (ocd) are resistant to treatment. For these patients, repetitive transcranial magnetic stimulation (rtms) may be an alternative form of treatment.
AIM: To clarify the effect and clinical application of rtms for treatment-resistant ocd.
METHOD: We searched the literature systematically and we discuss the relevant articles critically.
RESULTS: We included 17 randomised controlled trials (rcts) with 502 patients. The reported trials were small and heterogeneous. A small but consistent treatment effect was found for rtms (mean decrease y-bocs score 6.6 points) compared to placebo stimulation (mean decrease y-bocs score 2.4 points). However, the differences between the effects of rtms and the effects of placebo were often not statistically or clinically significant. The effect frequently disappeared within several weeks after ending rtms and the follow-up period was never longer than three months.
CONCLUSION: rtms is still not entirely suitable for inclusion in the regular treatment of resistant ocd. More information is needed about follow-up requirements and about the advisable length and intensity of the applied stimulation. Future developments may involve increasing the number of stimulation sessions, combining these with cognitive behavioral therapy and delivering a more personalised form of rtms.

Background: The conceptualisation of quality of life of adults in treatment for autism has received very little attention in the medical literature., Aim: To clarify, from a philosophical perspective, two concepts, namely relational autonomy and coping, which contribute to quality of life and which, we believe, are easily applicable in the care for adults with autism., Method: We conducted a selective review of relevant medical and philosophical literature. We clarify the concepts of 'relational autonomy' and 'coping', present a case and discuss possible practical applications of the aforementioned concepts in clinical practice., Results: We clarify from a philosophical point of view the concepts of relational autonomy and coping, how these concepts contribute to the quality of life and how they can be used in the daily provision of care. The care-givers should see a patient primarily as a person, and should be aware that the division of roles between patient and care-givers implies certain forms of communication. By utilising the relational aspects, the therapist and the care supervisor within the care relationship have the means, uniquely tailored to the person and the domain, to increase the patient's autonomy and consequently his/her quality of life., Conclusion: If the two concepts, relational autonomy and coping, are operationalised and applied in a straightforward manner in clinical practice, it should be possible to improve the quality of life of adults with autism.