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Background: Caring for persons with profound intellectual and multiple disabilities (PIMD) demands specific expertise. Tacit knowledge seems to play an important role, but little is known about its nature, including what is necessary for its development and transfer. Aim: To gain understanding of the nature and development of tacit knowledge between persons with PIMD and their caregivers. Method: We conducted an interpretative synthesis of literature on tacit knowledge in caregiving dyads with persons with PIMD, persons with dementia or infants. Twelve studies were included. Results: Tacit knowledge is about caregivers and care-recipients becoming sensitive and responsive to each other's cues and together crafting care routines. Learning takes place in a constant process of action and response that transforms those involved. Conclusion: Building tacit knowledge together is necessary for persons with PIMD to learn to recognise and express their needs. Suggestions are made for ways to facilitate its development and transfer.

Background: Since the life expectancy of people with profound intellectual and multiple disabilities (PIMD) is increasing, siblings may take over care/support roles from their parents. Method: To explore how parents and siblings of persons with PIMD view siblings' role regarding future care/support for their family member, we interviewed eight parents and 13 siblings of seven persons with PIMD and analysed the data thematically. Results: While some parents expected that a future care/support role would burden the sibling unfairly, most siblings anticipated such a role and reported no concerns about this future responsibility. Despite a lack of explicit communication, expectations of parents and siblings regarding future responsibilities corresponded. However, some siblings mentioned the lack of explicit communication made them feel unprepared for the future. Conclusions: Explicit family communication may make siblings feel more prepared for the future and decrease the discrepancy between parents' and siblings' views regarding an expected future burden.

SMC1A epilepsy syndrome or developmental and epileptic encephalopathy‐85 with or without midline brain defects (DEE85, OMIM #301044) is an X‐linked neurologic disorder associated with mutations of the SMC1A gene, which is also responsible for about 5% of patients affected by Cornelia de Lange syndrome spectrum (CdLS). Only described in female patients, SMC1A epilepsy syndrome is characterized by the onset of severe refractory epileptic seizures in the first year of life, global developmental delay, a variable degree of intellectual disability, and dysmorphic facial features not typical of CdLS. This was a descriptive observational study for the largest international cohort with this specific disorder. The main goal of this study was to improve the knowledge of the natural history of this phenotype with particular attention to the psychomotor development and the epilepsy data. The analyzed cohort shows normal prenatal growth with the subsequent development of postnatal microcephaly. The incidence of neonatal problems (seizures and respiratory compromise) is considerable (51.4%). There is a significant prevalence of central nervous system (20%) and cardiovascular malformations (20%). Motor skills are generally delayed. The presence of drug‐resistant epilepsy is confirmed; the therapeutic role of a ketogenic diet is still uncertain. The significant regression of previously acquired skills following the onset of seizures has been observed. Facial dysmorphisms are variable and no patient shows a classic CdLS phenotype. To sum up, SMC1A variants caused drug‐resistant epilepsy in these patients, more than two‐thirds of whom were shown to progress to developmental and epileptic encephalopathy. The SMC1A gene variants are all different from each other (apart from a couple of monozygotic twins), demonstrating the absence of a mutational hotspot in the SMC1A gene. Owing to the absence of phenotypic specificity, whole‐exome sequencing is currently the diagnostic gold standard. [ABSTRACT FROM AUTHOR]

Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22-23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

Background: Caring for persons with profound intellectual and multiple disabilities (PIMD) demands specific expertise. Tacit knowledge seems to play an important role, but little is known about its nature, including what is necessary for its development and transfer. Aim: To gain understanding of the nature and development of tacit knowledge between persons with PIMD and their caregivers. Method: We conducted an interpretative synthesis of literature on tacit knowledge in caregiving dyads with persons with PIMD, persons with dementia or infants. Twelve studies were included. Results: Tacit knowledge is about caregivers and care‐recipients becoming sensitive and responsive to each other's cues and together crafting care routines. Learning takes place in a constant process of action and response that transforms those involved. Conclusion: Building tacit knowledge together is necessary for persons with PIMD to learn to recognise and express their needs. Suggestions are made for ways to facilitate its development and transfer. [ABSTRACT FROM AUTHOR]

Pitt‐Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by mutations of the transcription factor 4 (Tcf4) gene. Individuals with PTHS often suffer from severe abdominal bloating and constipation. In this short communication, we discuss two individuals with PTHS who died unexpectedly due to gastrointestinal complications. We aim to increase awareness among healthcare professionals who care for individuals with PTHS, to ensure adequate screening and management of gastrointestinal symptoms in this population. Moreover, we discuss how fatal gastrointestinal complications may be related to PTHS and provide an overview of the literature. [ABSTRACT FROM AUTHOR]

Cornelia de Lange syndrome (CdLS) is a spectrum disorder due to variants in genes of the cohesin protein complex. The following abstracts are from the Cornelia de Lange Syndrome Scientific and Educational Symposium held virtually in October 2020. Aspects of behavior, including autistic features, impulsivity, adaptive skills, executive function, and anxiety are described. Applied behavioral analysis is a promising approach for autism, and an N‐acetylcysteine trial is proposed. Children below 6 years with CdLS have an increased number of and further travel to medical providers, with insurance type comprising a significant barrier. Speech, language, and feeding abilities fall significantly below expectations for age in CdLS. Augmentative alternative communication can yield potential barriers as well as interesting benefits. Developmentally, studies in animal models further elucidate the mechanisms and roles of cohesin: link with mediator transcriptional complex; facilitation of enhancer‐promoter communication; regulation of gene expression; allocation of cells to germ layers; and repair of spontaneous DNA damage in placental cells. Genome and RNA sequencing can help identify the molecular cause in the 20% of individuals with suspected CdLS and negative testing. The phenotypes in individuals with variants in the SMC1A gene are distinct, and that with intractable seizures has been further evaluated. AMA CME credits provided by GBMC, Baltimore, MD. All studies approved by an ethics committee. [ABSTRACT FROM AUTHOR]

Introduction: Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause and only a few studies have considered behavioural characteristics in relation to developmental level. Here, we describe the behavioural phenotype in individuals with CdLS with SMC1A variants. Methods: We performed an international, interdisciplinary study on 51 individuals with SMC1A variants. Results of questionnaire studies are compared to those in individuals with Down Syndrome and with Autism Spectrum Disorder. Results on cognition and self‐injurious behaviour (SIB) are compared to those in individuals with CdLS caused by NIPBL variants. For Dutch participants with SMC1A variants we performed direct in‐person assessments of cognition, autism, and added an interview and questionnaire on adaptive behaviour and sensory processing. Results: Individuals with SMC1A variants show a higher cognitive level and less SIB than individuals with NIPBL variants. Individuals with SMC1A variants without classic CdLS phenotype but with a Rett‐like phenotype show more severe intellectual disability and more SIB compared to those with a CdLS phenotype. Autism is less present if outcomes in direct in‐person assessments are evaluated taking developmental level into account compared to results based on a questionnaire. Conclusions: Behaviour in individuals with CdLS should be evaluated taking genetic cause into account. Detailed interdisciplinary approaches are of clinical importance to inform tailored care and may eventually improve quality of life of patients and families. [ABSTRACT FROM AUTHOR]

Aim: Careful study and accurate description of behaviour are important to understand developmental challenges for individuals with Cornelia de Lange syndrome (CdLS). Here we present a systematic review of current understanding of behaviour in CdLS.Method: A systematic search was performed for articles published between January 1946 and December 2015 evaluating autism, self-injury, and/or cognition in CdLS. After study-selection, 43 papers were included. The Cochrane quality criteria were adjusted to assign quality scores to the included studies.Results: Participants were mostly categorized in the severe/profound developmental level. Methodology and quality were very heterogeneous, as well as reporting occurrence of autism. Self-injurious behaviour was reported in 15 papers. Physical conditions were reported in 21 studies, mostly related to hearing and vision. Only nine studies mentioned details about medication.Interpretation: Comparison of presented results was hindered by heterogeneous assessment methods. Improving our understanding of behavioural characteristics in CdLS requires more uniform methodology. We propose a criterion standard of instruments that can ideally be used in assessment of behaviour and development. This will improve understanding of behaviour in the context of developmental level and daily functioning. [ABSTRACT FROM AUTHOR]

As people with an intellectual disability (ID) have more health needs than others, it is not surprising that they tend to request more out-of-hours GP care compared with the general population. Their requests, however, are more often classified at the lowest level of urgency. This raises questions, especially in times of over-stretched GP cooperatives and a general quest for efficiency. This commentary reflects upon current developments in care for people with ID, such as de-institutionalization and decreasing numbers of nursing staff in the Netherlands. It also stresses the importance of optimal health-information exchange between carers and the GP during office hours. The Netherlands has one of the best primary care systems in the world. The availability of highly qualified GPs with the support of specialized physicians for people with ID, if required, offers promising preconditions for accessible, high quality primary care for people with ID; however, this must be accompanied by organizational improvements by ID-care providers in the preparation and selection of requests before contacting out-of-hours GP cooperatives.