ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.

ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly neurological manifestation during infancy. Epileptic spasms are a common presenting symptom of ALG13-CDG. Other common phenotypes include developmental delay, seizures, intellectual disability, microcephaly, and hypotonia. Current management of ALG13-CDG is targeted to address patients' symptoms. To date, less than 100 individuals have been reported with ALG13-CDG. In this article, an international group of experts in CDG reviewed all reported individuals affected with ALG13-CDG and suggested diagnostic and management guidelines for ALG13-CDG. The guidelines are based on the best available data and expert opinion. Neurological symptoms dominate the phenotype of ALG13-CDG where epileptic spasm is confirmed to be the most common presenting symptom of ALG13-CDG in association with hypotonia and developmental delay. We propose that ACTH/prednisolone treatment should be trialed first, followed by vigabatrin, however ketogenic diet has been shown to have promising results in ALG13-CDG. In order to optimize medical management, we also suggest early cardiac, gastrointestinal, skeletal, and behavioral assessments in affected patients.

Developmental surveillance and screening practices in a pediatric oncology clinic: Initial progress of a quality improvement study.

BACKGROUND: Pediatric cancer patients' oncology teams regularly take on a primary care role, but due to the urgent nature of cancer treatment, developmental screenings may be deprioritized. This leaves patients at risk of developmental diagnoses and referrals being delayed. AIMS: Clarify the current developmental surveillance and screening practices of one pediatric oncology team. MATERIALS AND METHODS: Researchers reviewed charts for patients (n = 66) seen at a pediatric oncology clinic in a suburban academic medical center to determine engagement in developmental screening (including functioning around related areas such as speech, neurocognition, etc.) and referrals for care in these areas. RESULTS: Developmental histories were collected from all patients through admission history and physical examination (H&P), but there was no routinized follow-up. Physicians did not conduct regular developmental screening per American Academy of Pediatrics guidelines for any patients but identified n = 3 patients with needs while the psychology team routinely surveilled all patients seen during this time (n = 41) and identified n = 18 patients as having delays. DISCUSSION: Physicians did not routinely screen for development needs beyond H&P and were inconsistent in developmental follow-up/referrals. Integrated psychologists were key in generating referrals for developmental-based care. However, many oncology patients were not seen by psychologists quickly or at all, creating a significant gap in care during a crucial developmental period. CONCLUSION: The case is made for further routinization of ongoing developmental screening in pediatric oncology care.

Tablet computer-based cognitive training for visuomotor integration in children with developmental delay: a pilot study.

BACKGROUND: Impaired visuomotor integration (VMI) is commonly observed in children with developmental delay (DD). This pilot study aimed to evaluate the effects of tablet computer-based cognitive training on the VMI in children with DD. METHODS: This study included children aged 4 to under 18 years diagnosed with DD. The children participated in a 12-week tablet computer-based visual-spatial and visuomotor training program. They were administered the Mind Rx Kids Program (Brain Academy, Seoul, South Korea). The participants underwent daily 30-min tablet computer-based training for 12 weeks. The primary visuomotor function was measured using the Beery-Buktenica Developmental Test of Visual-Motor Integration, 6th Edition (VMI-6). For secondary outcomes, measurements were taken before and after 12-week treatment using the Quality of Upper Extremity Skills Test (QUEST), Functional Independence Measure for Children (WeeFIM), Childhood Autism Rating Scale (CARS), Attention deficit hyperactivity disorder Rating Scale (ARS), and Child Smartphone Addiction Observer Scale. The Wilcoxon signed-rank test was used to compare the pre- and post-treatment outcomes. RESULTS: Ten children with DD participated in this study. The results of the 12-week tablet computer-based cognitive training showed significant improvements in the raw score, standard score, percentile score, and equivalent age of the Beery VMI-6. Additionally, there were significant improvements in QUEST and WeeFIM scores. Although there were improvements in the CARS, ARS, and smartphone addiction observer scale, these were not statistically significant. CONCLUSION: This pilot study confirmed that applying tablet computer-based cognitive training to children with DD not only improves VMI, but also enhances fine motor skills and activities of daily living. Furthermore, the results of this study indicate that tablet computer-based cognitive training does not increase digital media addiction. Therefore, children with DD can engage in tablet computer-based cognitive training at home without concerns about digital media addiction.

Perceptions on support, challenges and needs among parents and caregivers of children with developmental disabilities in Croatia, North Macedonia and Serbia: a cross-sectional study.

BACKGROUND: Parents/caregivers of children with developmental disabilities (CDD) have a wide range of support needs and there are various interventions available. Support, challenges, and needs among parents/caregivers of CDD likely vary in different geographical settings. This study aimed to analyze the perceptions of support, challenges, and needs among parents/caregivers of CDD in Croatia, North Macedonia, and Serbia. METHODS: We conducted a cross-sectional study in March-April 2023 within the Erasmus + SynergyEd project. The eligible participants were parents and caregivers of CDD in Croatia, North Macedonia, and Serbia, who filled out a modified Caregiver Needs Survey online. RESULTS: Among 953 participants, 542 (57%) were from Croatia, 205 (21%) were from North Macedonia and 206 (22%) were from Serbia. The most common diagnosis of participants' children was autism spectrum disorder (26%). The child most often received the first diagnosis at the median of 2 years, diagnosed by a team of professionals. More than half (58%) of children attended preschool and public school, while 22% did not attend any schooling. Additional support from the state/city/county was received by 66% of CDD. Most participants declared not participating in association/organization for family support. Participants mostly (68%) used experts who work with the child as a source of information about their child's condition, followed by the Internet (53%). In the last 12 months, 60% of participants had difficulties with the availability of services in their area or problems getting appointments. The biggest problem in getting support was ensuring the child's basic rights were protected. Participants stated that ensuring greater rights for CDD was the greatest need for their families. CONCLUSION: Parents/caregivers of CDD in Croatia, North Macedonia, and Serbia faced multiple challenges, but most of them were satisfied with the services provided to their children. Future efforts to develop policies and services related to CDD should consider the opinions of their parents/caregivers and disparities in access to services.

Value-Based Payment to Support Health Care Transition for Young Adults with Intellectual and Developmental Disabilities: A Feasibility Study.

INTRODUCTION: Only 20% of youth with intellectual and developmental disability (ID/DD) receive health care transition (HCT) preparation from their health care providers (HCPs). To address HCT system gaps, the first-of-its-kind HCT value-based payment (VBP) pilot was conducted for young adults (YA) with ID/DD. METHODS: This feasibility study examined the acceptability, implementation, and potential for expansion of the pilot, which was conducted within a specialty Medicaid managed care organization (HSCSN) in Washington, DC. With local pediatric and adult HCPs, the HCT intervention included a final pediatric visit, medical summary, joint HCT visit, and initial adult visit. The VBP was a mix of fee-for-service and pay-for-performance incentives. Feasibility was assessed via YA feedback surveys and interviews with HSCSN, participating HCPs, and selected state Medicaid officials. RESULTS: Regarding acceptability, HSCSN and HCPs found the HCT intervention represented a more organized approach and addressed an unmet need. YA with ID/DD and caregivers reported high satisfaction. Regarding implementation, nine YA with ID/DD participated. Benefits were reported in patient engagement, exchange of health information, and care management and financial support. Challenges included care management support needs, previous patient gaps in care, and scheduling difficulties. Regarding expansion, HSCSN and HCPs agreed that having streamlined care management support, medical summary preparation, and payment for HCT services are critical. DISCUSSION: This study examined the benefits and challenges of a HCT VBP approach and considerations for future expansion, including payer/HCP collaboration, HCT care management support, and updated system technology and interoperability.

Adult Day Services for People With Intellectual and Developmental Disabilities: A Scoping Review.

BACKGROUND: Adult day services (ADS) are therapeutic, social, and health-related activities that keep people in their homes, rather than institutional settings. While there is a growing body of literature on ADS for older adults, there is far less information available about ADS for younger adults with intellectual and/or developmental disabilities (IDDs). METHOD: Researchers conducted a scoping review of 6 databases (892 total articles). RESULTS: After applying inclusion and exclusion criteria, 74 full articles were reviewed, with 10 articles meeting study requirements. The research team found the literature is limited to simple descriptive reports or interventions that use ADS as a platform. CONCLUSIONS: Simply put, we know very little about the services provided to younger adults with IDD in ADS. Implications for future research are discussed, including the need to catalog the services offered in ADS for younger adults with IDD and to evaluate their impact on participant well-being.

Human immunodeficiency virus diagnosis and care among adults with intellectual and developmental disabilities who are publicly insured.

BACKGROUND: This study aimed to assess the prevalence of human immunodeficiency virus (HIV) testing, HIV diagnosis and receipt of HIV care among adults with intellectual and developmental disabilities (IDDs) who are publicly insured in the USA. DESIGN: This study is a cross-sectional analysis of Medicare-Medicaid linked data of adults with IDD who were publicly insured in 2012 (n = 878 186). METHODS: We estimated adjusted prevalence ratios of HIV testing, diagnosis and receipt of antiretroviral therapy (ART). We also identified the relationship between predisposing (age, gender, race and ethnicity), enabling (Medicare, Medicaid or both; rural status; geographical location; and county income) and need-related characteristics (IDD diagnosis and other co-occurring conditions) associated with these outcomes. RESULTS: Only 0.12% of adults with IDD who had no known HIV diagnosis had received an HIV test in the past year. The prevalence of HIV diagnosis among adults with IDD was 0.38%, although differences by type of IDD diagnosis were observed. Prevalence of HIV diagnosis differed by type of IDD. Among adults with IDD who were living with HIV, approximately 71% had received ART during 2012. The adjusted analyses indicate significant racial disparities, with Black adults with IDD making up the majority (59.11%) of the HIV-positive IDD adult population. CONCLUSIONS: Adults with IDD are a unique priority population at risk for HIV-related disparities, and the level of risk is differential among subtypes of IDD. People with IDD, like other people with disabilities, should be considered in prevention programming and treatment guidelines to address disparities across the HIV care continuum.

Exploring individual parent-to-parent support interventions for parents caring for children with brain-based developmental disabilities: A scoping review.

BACKGROUND: Brain-based developmental disabilities (BBDDs) comprise a large and heterogeneous group of disorders including autism, intellectual disability, cerebral palsy or genetic and neurodevelopmental disorders. Parents caring for a child with BBDD face multiple challenges that cause increased stress and high risk of mental health problems. Peer-based support by fellow parents for a various range of patient groups has shown potential to provide emotional, psychological and practical support. Here, we aim to explore existing literature on individual peer-to-peer support (iP2PS) interventions for parents caring for children with BBDD with a view to (1) explore the impact of iP2PS interventions on parents and (2) identify challenges and facilitators of iP2PS. METHOD: An extensive literature search (January 2023) was performed, and a thematic analysis was conducted to synthesize findings. RESULTS: Fourteen relevant articles revealed three major themes regarding the impact of iP2PS on parents: (1) emotional and psychological well-being, (2) quality of life and (3) practical issues. Four themes were identified describing challenges and facilitators of iP2PS: (1) benefits and burden of giving support, (2) matching parent-pairs, (3) logistic challenges and solutions and (4) training and supervision of parents providing peer support. CONCLUSIONS: This review revealed that iP2PS has a positive impact on the emotional and psychological well-being of parents, as well as the overall quality of life for families caring for a child with a BBDD. Individual P2PS offers peer-parents an opportunity to support others who are facing challenges similar to those they have experienced themselves. However, many questions still need to be addressed regarding benefits of different iP2PS styles, methods of tailoring support to individual needs and necessity of training and supervision for peer support providers. Future research should focus on defining these components and evaluating benefits to establish effective iP2PS that can be provided as standard care practice for parents.

Trainee advocacy for medical education on the care of people with intellectual and/or developmental disabilities: a sequential mixed methods analysis.

BACKGROUND: Medical trainees (medical students, residents, and fellows) are playing an active role in the development of new curricular initiatives; however, examinations of their advocacy efforts are rarely reported. The purpose of this study was to understand the experiences of trainees advocating for improved medical education on the care of people with intellectual and/or developmental disabilities. METHODS: In 2022-23, the authors conducted an explanatory, sequential, mixed methods study using a constructivist paradigm to analyze the experiences of trainee advocates. They used descriptive statistics to analyze quantitative data collected through surveys. Participant interviews then yielded qualitative data that they examined using team-based deductive and inductive thematic analysis. The authors applied Kern's six-step approach to curriculum development as a framework for analyzing and reporting results. RESULTS: A total of 24 participants completed the surveys, of whom 12 volunteered to be interviewed. Most survey participants were medical students who reported successful advocacy efforts despite administrative challenges. Several themes were identified that mapped to Steps 2, 4, and 5 of the Kern framework: "Utilizing Trainee Feedback" related to Needs Assessment of Targeted Learners (Kern Step 2); "Inclusion" related to Educational Strategies (Kern Step 4); and "Obstacles", "Catalysts", and "Sustainability" related to Curriculum Implementation (Kern Step 5). CONCLUSIONS: Trainee advocates are influencing the development and implementation of medical education related to the care of people with intellectual and/or developmental disabilities. Their successes are influenced by engaged mentors, patient partners, and receptive institutions and their experiences provide a novel insight into the process of trainee-driven curriculum advocacy.

Establishing Best Practices in Telehealth Care for Adults with Developmental Disabilities in the United States: An e-Delphi Study.

Background: Telehealth care is now a key element of mainstream health care since the COVID-19 pandemic, with all types of health care providers joining the digital revolution. As a population experiencing health care disparities, adults with developmental disabilities and their supporters have described variable experiences with telehealth care that contribute to overall care quality and health outcomes. Methods: This e-Delphi study established consensus on best practices in telehealth care for adults with developmental disabilities in the United States. Online surveys and videoconferencing interviews were conducted with 44 expert panelists with experience with telehealth care and developmental disabilities, including adults with developmental disabilities, family members, direct support professionals, nurses, and health care providers. Results: Three rounds of surveys resulted in a set of 9 guidelines consisting of 42 items. The guidelines addressed 1) appropriate situations for telehealth care, 2) communication needs and preferences, 3) support person collaboration, 4) education and anticipatory guidance, 5) reminders, 6) coordination of care, 7) equitable and fair access, 8) privacy and safety, and 9) evidence-based practice. Conclusion: Health care providers can adopt these best practice guidelines to ensure telehealth care is provided equitably and safely to adults with developmental disabilities. Policy advocacy is needed for the uptake of these guidelines and for health care providers and adults with developmental disabilities to access the resources needed for safe and effective telehealth care use.

NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies.

The NR4A2 gene encodes an orphan transcription factor of the steroid-thyroid hormone-retinoid receptor superfamily. This review focuses on the clinical findings associated with the pathogenic variants so far reported, including three unreported cases. Also, its role in neurodegenerative diseases, such as Parkinson's or Alzheimer's disease, is examined, as well as a brief exploration on recent proposals to develop novel therapies for these neurological diseases based on small molecules that could modulate NR4A2 transcriptional activity. The main characteristic shared by all patients is mild to severe developmental delay/intellectual disability. Moderate to severe disorder of the expressive and receptive language is present in at least 42%, while neuro-psychiatric issues were reported in 53% of patients. Movement disorders, including dystonia, chorea or ataxia, are described in 37% patients, although probably underestimated because of its frequent onset in late adolescence-young adulthood. Finally, epilepsy was surprisingly present in 42% of patients, being drug-resistant in three of them. The age at onset varied widely, from five months to twenty-six years, as did the classification of epilepsy, which ranged from focal epilepsy to infantile spasms or Lennox-Gastaut syndrome. Accordingly, we propose that NR4A2 should be considered as a first-tier target gene for the genetic diagnosis of developmental and epileptic encephalopathy.

Barriers to Mental Health Care Transition for Youth and Young Adults with Intellectual and Developmental Disabilities and Co-occurring Mental Health Conditions: Stakeholders' Perspectives.

Youth and young adults (YYA) with intellectual and developmental disabilities (IDD) have high rates of co-occurring mental health (MH) conditions. The time during transition from pediatric to adult health and mental health care can be a very challenging, with risk of loss of services leading to poor outcomes. This study aimed to explore barriers to transition from pediatric to adult health and mental health care and services for individuals with IDD and co-occurring MH conditions, by eliciting the view of stakeholders, including disability advocates. Qualitative analysis was conducted using grounded theory, and themes were coded based upon the social-ecological model (SEM). We generated themes into multiple levels: the individual level, the family level, the provider level, the systems of care level, and the societal level. Stakeholders expressed a critical need to improve coordination between systems, and to increase provider availability to care for YYA with IDD and co-occurring MH conditions.

Health Service Utilization Patterns Among Medicaid Enrollees With Intellectual and Developmental Disabilities Before and During the COVID-19 Pandemic: Implications for Pandemic Response and Recovery Efforts.

OBJECTIVES: To assess the impact of COVID-19 on health service utilization of adults with intellectual and developmental disabilities (IDDs) through an analysis of Medicaid claims data. DESIGN: Retrospective cohort study of Medicaid claims. SETTING AND PARTICIPANTS: Medicaid members aged 25 to 64 years from January 1, 2018, to March 31, 2021, from the states of Louisiana, Pennsylvania, and Wyoming. INTERVENTION: We analyzed data from two 12-month time periods (pre-COVID-19 and during COVID-19) and assessed the potential impact of the COVID-19 pandemic on health service utilization and service intensity for 3 cohorts: (1) IDD with preexisting mental health diagnoses, (2) IDD without mental health diagnoses, and (3) all other Medicaid members. MAIN OUTCOME MEASURE: Health service utilization determined by specific claims data classifications. RESULTS: The analysis showed reduced utilization for nonmental health service types with differing utilization patterns for IDD with preexisting mental health diagnoses, IDD without mental health diagnoses, and all other Medicaid members. Change in utilization varied, however, for mental health service types. Measures of service intensity showed decreased numbers of members utilizing services across most service types and increased Medicaid claims per person across most mental health service categories but decreased Medicaid claims per person for most nonmental health services. CONCLUSIONS: Results suggest a need for mental health services among all Medicaid members during the COVID-19 pandemic. By anticipating these needs, communities may be able to expand outreach to Medicaid members through enhanced case management, medication checks, and telemedicine options.

Models of care in secure services for people with intellectual and developmental disability: Implementing the Walkway to Wellness.

BACKGROUND: Changes to policy around inpatient services for people with intellectual and developmental disability (IDD) who offend, have led to a need for services to reconsider their models of care. This has led to calls for more tailored, patient-centred care models, with less reliance solely on offence-related treatment programmes which can be unsuitable for a growing proportion of patients with more complex cognitive and behavioural difficulties. In response, the Walkway to Wellness (W2W) was developed at one National Health Service Trust providing secure services to people with IDD, with the intention of delivering a more collaborative, co-produced and goal-oriented care model that was better understood by staff and patient stakeholders. AIMS: To evaluate the implementation of the W2W using Normalisation Process Theory (NPT), an evidence-based theoretical approach is used across a number of health settings. METHODS: Staff were invited to complete a short questionnaire, using the NPT informed Normalisation Measure Development questionnaire, at two time points along the implementation process. Patients were invited to complete a simplified questionnaire. Both groups were asked for their views on the W2W and the process of its implementation. RESULTS: Although the W2W was more familiar to staff at the second time point, scores on the four NPT constructs showed a trend for it being less embedded in practice, with significant results concerning the ongoing appraisal of the new model. Patient views were mixed; some saw the benefit of more goal-oriented processes, but others considered it an additional chore hindering their own perceived goals. CONCLUSION: Early involvement of all stakeholders is required to enhance the understanding of changes to models of care. Live feedback should be used to refine and revise the model to meet the needs of patients, carers and staff members.

Measuring palliative care self-efficacy of intellectual and developmental disability staff using Rasch models.

OBJECTIVES: The objectives of this study were to evaluate the psychometric properties of a palliative care self-efficacy instrument developed for intellectual and developmental disability (IDD) staff using Rasch analysis and assess the change in palliative care self-efficacy between 2 time points using Rasch analysis of stacked data. METHODS: Staff from 4 nonprofit IDD services organizations in a US Midwestern state (n = 98) answered 11 questions with Likert-style responses at baseline and 1-month follow-up post training. Rasch analysis was performed to examine rating scale structure, unidimensionality, local independence, overall model fit, person and item reliability and separation, targeting, individual item and personal fit, differential item functioning (DIF), and change in palliative care self-efficacy between 2 time points. RESULTS: The rating scale structure improved when 5 response categories were collapsed to 3. With the revised 3 response categories, the instrument demonstrated good psychometric properties. Principal components analysis of Rasch residuals supported the assumption of unidimensionality. Model fit statistics indicated an excellent fit of the data to the Rasch model. The instrument demonstrated good person and item reliability and separation. Gender-related DIF was found in 1 item, and work tenure-related DIF in 3 items. Overall palliative care self-efficacy improved between 2 time points. SIGNIFICANCE OF RESULTS: Rasch analysis allowed for a more thorough examination of this palliative care self-efficacy instrument than classical test theory and provided information on rating scale structure, targeting, DIF, and individual persons and items. These recommendations can improve this instrument for research and practical contexts.

Implementation of Learn to Play Therapy for Children in Special Schools.

IMPORTANCE: Play is the primary occupation in childhood and fundamental to occupational therapy practice. OBJECTIVE: To evaluate a play intervention in special school settings. DESIGN: Pre- and postinvolvement of a 7-mo play program. SETTING: Four special schools in Victoria, Australia, for children with IQs < 70. PARTICIPANTS: Thirty-eight children with diagnoses including intellectual disability, autism, and global developmental delay, 7 teachers, 2 speech pathologists, and 2 occupational therapists. INTERVENTION: Learn to Play Therapy for 1 hr per week over a 7-mo period. OUTCOMES AND MEASURES: Pre-post outcome measures included children's pretend play skills, language, social skills, emotional regulation, and academic competence. RESULTS: Mean age of 38 children (15 girls and 23 boys) at baseline was 5 yr 7 mo (SD = 0.46 yr). Results showed significant changes in children's pretend play (p = .03), ability to recall sentences (p = .02), social skills (p = .022), and academic competence (p = .012). Learn to Play had a large effect on children's narrative skills (d = 2.72). At follow-up, object substitution at baseline influenced expressive language (p < .001), narrative mean language utterance (MLU; p = .015), social skills (p < .001), and academic competence (p < .001); elaborate play at baseline plus time influenced social skills (p < .001); and elaborate play at baseline influenced narrative MLU (p =. 016), sentence recall (p = .009), and academic competence (p = .001). CONCLUSIONS AND RELEVANCE: Embedding pretend play within practice positively influenced children's language, narrative, social, and academic skills. Plain-Language Summary: This study adds to the limited research on play-based therapy programs in special school settings for children with an IQ of less than 70. Children participated in Learn to Play Therapy, during which an occupational therapist, who has observed and assessed the child's play and understands the child's play abilities, played beside the child. Learn to Play Therapy is a child-centered therapy that is used to increase a child's ability to self-initiate and enjoy pretend play. The positive impacts of supporting the children's pretend play ability were highlighted by increases in their pretend play, language, social skills, academic competence, and narrative language after participating in Learn to Play Therapy in their special schools.

A non-randomized controlled study to assess the impact of the "Appui Parental", an early and intensive support programme for vulnerable families: Study protocol.

INTRODUCTION: Early home visit programmes have been developed to help parents build an adequate relationship with their baby and to prevent child developmental delays and affective disorders. The "Appui Parental" programme is an intervention carried out by nursery nurses to provide intensive parental support to vulnerable families. Before extending this programme, it seemed necessary to evaluate its impact objectively. OBJECTIVES: The main aim is to determine the impact of the "Appui Parental" programme on the change in the child's symptoms. The secondary objectives are to evaluate its effects on mother-child interactions, self-assessed parental competence, perception of social support, primary caregiver's anxiety-depression symptoms, alliance with the nursery nurse, frequency of out-of-home placements, and nursery nurses' stress. METHOD: This non-randomized prospective multicentre study would include 44 families who receive the "Appui Parental" intervention for a one to 20-month-old child (intervention group) and 44 families with the same vulnerability criteria who receive care as usual by the maternal and child protection services (control group). The child, parents, mother-child interaction, nursery nurse-mother alliance, and nursery nurse's stress will be assessed at month one and month 18 after inclusion. Comparisons between groups will be performed. CONCLUSION: This study should provide the public authorities with objective data on this programme's impact and allow them to pursue its generalization. For professionals, the study should confirm the interest in close early parental support through home visits or should lead to rethinking some aspects of the programme.

[Catatonia in youth with developmental disabilities: challenges in recognition and management]. / Katatonie bij jongeren met een ontwikkelingsstoornis: uitdagingen in herkenning en aanpak.

Catatonia in children and adolescents is not rare and, as in adults, has a favorable outcome, provided it is recognized and treated promptly. Nevertheless, in clinical practice we encounter several obstacles in terms of diagnosis and treatment in this population of patients. We describe a 14-year-old boy with an intellectually disability and autism spectrum disorder (ASD) in which clinicians did not diagnose catatonia until 1 year after the development of symptoms. Moreover, hesitations surrounding the correct treatment led to its delayed initiation. With this case report we aim to contribute to reduced reluctance and increased alertness in the treatment of catatonia in adolescents with developmental disorders.

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.

BACKGROUND AND PURPOSE: Sideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD) syndrome is a novel rare autoinflammatory multisystem disorder. We performed a systematic review of the available clinical and therapeutics aspects of the SIFD syndrome. METHODS: A systematic review according to PRISMA approach, including all articles published before the 30th of July 2021 in Pubmed and EMBASE database, was performed. RESULTS: The search identified 29 publications describing 58 unique patients. To date, 41 unique mutations have been reported. Onset of disease is very early with a median age of 4 months (range 0-252 months). The most frequent manifestations are haematologic such as microcytic anaemia or sideroblastic anaemia (55/58), recurrent fever (52/58), neurologic abnormalities (48/58), immunologic abnormalities in particular a humoral immunodeficiency (48/58), gastrointestinal signs and symptoms (38/58), eye diseases as cataract and retinitis pigmentosa (27/58), failure to thrive (26/58), mucocutaneous involvement (29/58), sensorineural deafness (19/58) and others. To date, 19 patients (35.85%) died because of disease course (16) and complications of hematopoietic cell stems transplantation (3). The use of anti-TNFα and hematopoietic cell stems transplantation (HCST) is dramatically changing the natural history of this disease. CONCLUSIONS: SIFD syndrome is a novel entity to consider in a child presenting with recurrent fever, anaemia, B-cell immunodeficiency and neurodevelopmental delay. To date, therapeutic guidelines are lacking but anti-TNFα treatment and/or HCST are attractive and might modify the clinical course of this syndrome.

Population level administrative data evidence of visits to the emergency department by youth with intellectual/developmental disabilities in BC, Canada.

INTRODUCTION: The literature indicates that youth with intellectual/developmental disabilities (IDD) have poor health and that access to health services decreases as they transition from pediatric to adult services. At the same time their use of emergency department services increases. The objective of this study was to compare use of emergency department services by youth with IDD to youth without IDD, with particular emphasis on the transition period from pediatric to adult health care services. METHODS: This research used a population level administrative health data base for the province of British Columbia Canada for 2010-2019 to examine the use of emergency departments by youth with IDD (N = 20,591) compared to a population group of youth without IDD (N = 1,293,791). Using the ten years of data, odds ratios for visits to the emergency department were calculated adjusting for sex, income and geographical area within the Province. In addition, difference-in-differences analyses were calculated for age matched subsets of the two cohorts. RESULTS: Over the ten year period, 40.60% of youth with IDD visited an emergency department at least once, compared to 29.10% of youth without IDD. Youth with IDD had an odds ratio of visiting an emergency department 1.697 (1.649, 1.747) times that of youth without IDD. However, when odds were adjusted for a diagnosis of either psychotic illness or anxiety/depression, the odds for youth with IDD visiting emergency compared to youth without IDD were reduced to 1.063 (1.031, 1.096). Use of emergency services increased as youth aged. Type of IDD also affected use of emergency services. Youth with Fetal Alcohol Syndrome had the greatest odds of using emergency services compared to youth with other types of IDD. DISCUSSION: The findings from this study indicate that youth with IDD have higher odds of using emergency services than youth without IDD although these increased odds appear to be largely driven by mental illness. In addition, use of emergency services increases as the youth age and transition from pediatric to adult health services. Better treatment of mental health issues within this population may reduce their use of emergency services.