The management of Pseudomonas aeruginosa respiratory infection in children with cerebral palsy: A narrative review.

Children with cerebral palsy have increased respiratory morbidity and mortality. Infection with Pseudomonas aeruginosa (PA) is associated with poorer outcomes, yet there are no formal guidelines to inform treatment of respiratory infection in children with cerebral palsy. This review explores the existing literature regarding management of PA-infection in children with cerebral palsy, with the aim of synthesising clinical recommendations and identifying gaps in current understanding. Medline (Ovid), PubMed and Embase were searched using keywords. Full-text articles involving the paediatric population and antimicrobial therapy were included. There was no limit on date of publication. Four retrospective case series were identified. Respiratory microbiology, in samples collected from a range of sites along the respiratory tract, was reported in three studies. Patients who received PA-specific antibiotics clinically improved. Two studies suggest that the use of suppressive inhaled anti-pseudomonal therapy may improve respiratory morbidity in the chronic setting. There is minimal evidence to guide management of PA respiratory infection in children with cerebral palsy. Children with cerebral palsy are at risk of developing bronchiectasis, so in the absence of high-quality evidence, management should be informed by extrapolating from the non-cystic fibrosis bronchiectasis guidelines. Further research examining surveillance and management of PA-infection in this population is required given that early intervention may prevent irreversible lung damage.

Social and emotional impact of anterior drooling in school-age children and young people with neurodevelopmental disabilities.

PURPOSE: Anterior drooling is a common comorbidity in children and young people (CYP) with neurodevelopmental disabilities. This study aimed to assess the social and emotional impact of drooling in CYP with a developmental age (DA) of 6 years and older, in whom this impact may differ from those with a lower DA due to their developing sense of self and awareness of their position within social groups. METHODS: Questionnaire data collected for routine clinical care were used to assess parental perceptions of the impact of drooling on (1) social interaction; (2) satisfaction with social interaction, appearance, family relations and life in general and (3) the way CYP expressed feelings on appearance, acceptance by peers and acceptance by adults. Fisher's exact tests and Mann-Whitney U tests were applied to identify associations between clinical characteristics and the social and emotional impact of drooling. RESULTS: Seventy-nine CYP with an estimated DA ≥ 6 years were included. The majority experienced frequent to constant (83%) and profuse (61%) drooling. Drooling frequently compromised social interaction with peers (49%) and adults (28%), and cognitive abilities were underestimated in 40%. Dissatisfaction with physical appearance (25%) related to drooling was noted. One-fifth of CYP reportedly expressed negative feelings on acceptance by peers related to drooling. CONCLUSIONS: These findings underscore the substantial impact of drooling on CYP with a DA of 6 years and older, primarily through avoidance by peers and underestimated cognitive abilities, emphasizing that recognizing and addressing these social-emotional consequences should be integral to clinical care. WHAT IS KNOWN: • Anterior drooling is common among children and youth with neurodevelopmental disabilities. WHAT IS NEW: • There seems to be a heightened prevalence of impaired social interaction with peers and underestimation of cognitive abilities due to drooling among children with a developmental age of at least 6 years compared to previous studies with more heterogeneous populations. • The impact of drooling can extend to domains that affect self-esteem, although this may not be fully captured with standardized questions, requiring clinicians to address these consequences in a way that is tailored to the child's experiences.

Development, implementation, and scalability of the Family Engagement in Research Course: a novel online course for family partners and researchers in neurodevelopmental disability and child health.

BACKGROUND: Since 2011 when the Canadian Institutes of Health Research launched the Strategy for Patient Oriented Research, there has been a growing expectation to embed patient-oriented research (POR) in the health research community in Canada. To meet this expectation and build capacity for POR in the field of neurodevelopmental disability and child health, in 2017 researchers and family leaders at CanChild Centre for Childhood Disability Research, McMaster University partnered with Kids Brain Health Network and McMaster Continuing Education to develop and implement a 10-week online Family Engagement in Research (FER) Course. MAIN TEXT: From its inception, the FER Course has been delivered in partnership with family leaders and researchers. The FER Course is innovative in its co-learning and community building approach. The course is designed to bring family partners and researchers together to co-learn and connect, and to develop competency and confidence in both the theory and practice of family engagement in research. Coursework involves four live online group discussions, individual review of course materials, weekly group activities, and a final group project and presentation. Upon completion of the FER Course, graduates earn a McMaster University micro-credential. CONCLUSIONS: To meet a need in building capacity in POR, a novel course in the field of neurodevelopmental disability and child health has been co-created and delivered. Over six years (2018-2023), the FER Course has trained more than 430 researchers and family partners across 20 countries. A unique outcome of the FER Course is that graduates expressed the wish to stay connected and continue to collaborate well beyond the course in turn creating an international FER Community Network that continues to evolve based on need. The FER Course is creating a growing international community of researchers, trainees, self-advocates, and family partners who are championing the implementation of meaningful engagement in neurodevelopmental disability and child health research and beyond. The course is internationally recognized with an established record of building capacity in POR. Its uptake, sustainability, and scalability to date has illustrated that training programs like the FER Course are necessary for building capacity and leadership in family engagement in research.

In the last two decades there has been a clear commitment in Canada (and the world) to include patients and their families in health research­a process called patient-oriented research or as we refer to it­family engagement in research. In 2011, the Canadian Institutes of Health Research introduced the Strategy for Patient-Oriented Research to make this happen. To support POR in neurodevelopmental disability and child health, CanChild Centre for Childhood Disability Research teamed up with Kids Brain Health Network and McMaster Continuing Education. Together, a team of family caregivers and researchers co-created the Family Engagement in Research (FER) Course, a 10-week online course.The purpose of the FER Course is for researchers and family partners to learn about family engagement principles and how to use them in research. The course covers core areas in family engagement including how to find each other, how families and researchers can work together, and ways to overcome common challenges in research partnerships. The course uses online group sessions, discussion boards, and various resources such as research papers and videos. Through a group project, family partners and researchers collaborate to create a resource on family engagement. Completing the FER Course researchers and family members earn a McMaster University micro-credential and become part of a growing global community of FER Course graduates.Over six years (2018­2023), the FER Course has trained more than 430 researchers and family partners from 20 countries. The course has strengthened capacity in family engagement and is building a worldwide community of researchers, trainees, self-advocates, and family partners who are dedicated to improving neurodevelopmental disability and child health research through meaningful engagement.

High threshold of total developmental quotient at 3 years for follow-up in extremely preterm infants.

AIM: To investigate the relationship between the developmental quotient (DQ) at age 3 years and the need for educational support at school age in extremely preterm infants. METHODS: A total of 176 infants with a gestational age of <28 weeks were analyzed. The total DQ and subscales were evaluated using the Kyoto Scale of Psychological Development (KSPD) test. Neurodevelopment at age 3 years was stratified using total DQ in a conventional (DQ < 70 as developmental delay, DQ 70- <85 as subnormal, DQ ≥85 as normal) and a modified way (subdividing normal into DQ 85- <93 as low-normal and DQ ≥93 as high-normal). The prevalence of future educational support was compared for each stratum. Additionally, subscales were compared between those with and without educational support in each total DQ stratum. RESULTS: In conventional stratification, the prevalence of educational support was 32 (63 %) for developmental delay, 14 (24 %) for subnormal, and 10 (15 %) for normal. In modified stratification, the prevalence was 8 (26 %) for low-normal and 2 (5 %) for high-normal. While there was no significant difference in the odds of educational support between the normal and subnormal, the low-normal had significantly higher odds compared to the high-normal (OR 6.00; 95 % CI, 1.16-30.95, p = 0.03). Among the low-normal stratum, the language-social subscale was significantly lower in those with educational support. CONCLUSION: Setting high thresholds for total DQ and evaluating detailed subscales at age 3 years may be useful for developmental follow-up in extremely preterm infants.

Mental health and coping strategies of caregivers of people with intellectual and developmental disabilities: the initial impact of the COVID-19 pandemic in Brazil.

Studies on the COVID-19 pandemic highlight detrimental effects of social distancing on mental health. These effects were also observed among caregivers of people with intellectual and developmental disabilities (IDD), who undergo particular challenges in this context. This study aimed to identify the coping strategies adopted by caregivers of people with IDD in the period of social isolation during the COVID-19 pandemic and their relationship to signs of mental illness. Forty-eight caregivers of people with IDD who were users of a non-governmental organization for the assistance of people with IDD and their families in southeastern Brazil undertook an on-line survey. Data analysis included descriptive statistics, Pearson's correlation, multiple regression, and the word cloud technique. Results indicate that most caregivers employed healthy coping strategies and used negative words to describe their feelings towards the pandemic. Confrontation, withdrawal, self-control, social support, acceptance, and escape correlated with psychological symptoms (stress, depression, or loneliness). Those symptoms were more prevalent among participants using escape as a coping strategy. These findings indicate that caregivers of people with National Deworming Day (NDD) used mostly positive coping strategies to face the COVID-19 pandemic, which may have contributed to the low prevalence of psychological burden in this population.

Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.

Exome sequencing (ES) has emerged as an essential tool in the evaluation of neurodevelopmental disorders (NDD) of unknown etiology. Genome sequencing (GS) offers advantages over ES due to improved detection of structural, copy number, repeat number and non-coding variants. However, GS is less commonly utilized due to higher cost and more intense analysis. Here, we present nine cases of pediatric NDD that were molecularly diagnosed with GS between 2017 and 2022, following non-diagnostic ES. All individuals presented with global developmental delay or regression. Other features present in our cohort included epilepsy, white matter abnormalities, brain malformation and dysmorphic features. Two cases were diagnosed on GS due to newly described gene-disease relationship or variant reclassification (MAPK8IP3, CHD3). Additional features missed on ES that were later detected on GS were: intermediate-size deletions in three cases who underwent ES that were not validated for CNV detection, pathogenic variants within the non-protein coding genes SNORD118 and RNU7-1, pathogenic variant within the promoter region of GJB1, and a coding pathogenic variant within BCAP31 which was not sufficiently covered on ES. GS following non-diagnostic ES led to the identification of pathogenic variants in this cohort of nine cases, four of which would not have been identified by reanalysis alone.

Developing a Chatbot to Support Individuals With Neurodevelopmental Disorders: Tutorial.

Families of individuals with neurodevelopmental disabilities or differences (NDDs) often struggle to find reliable health information on the web. NDDs encompass various conditions affecting up to 14% of children in high-income countries, and most individuals present with complex phenotypes and related conditions. It is challenging for their families to develop literacy solely by searching information on the internet. While in-person coaching can enhance care, it is only available to a minority of those with NDDs. Chatbots, or computer programs that simulate conversation, have emerged in the commercial sector as useful tools for answering questions, but their use in health care remains limited. To address this challenge, the researchers developed a chatbot named CAMI (Coaching Assistant for Medical/Health Information) that can provide information about trusted resources covering core knowledge and services relevant to families of individuals with NDDs. The chatbot was developed, in collaboration with individuals with lived experience, to provide information about trusted resources covering core knowledge and services that may be of interest. The developers used the Django framework (Django Software Foundation) for the development and used a knowledge graph to depict the key entities in NDDs and their relationships to allow the chatbot to suggest web resources that may be related to the user queries. To identify NDD domain-specific entities from user input, a combination of standard sources (the Unified Medical Language System) and other entities were used which were identified by health professionals as well as collaborators. Although most entities were identified in the text, some were not captured in the system and therefore went undetected. Nonetheless, the chatbot was able to provide resources addressing most user queries related to NDDs. The researchers found that enriching the vocabulary with synonyms and lay language terms for specific subdomains enhanced entity detection. By using a data set of numerous individuals with NDDs, the researchers developed a knowledge graph that established meaningful connections between entities, allowing the chatbot to present related symptoms, diagnoses, and resources. To the researchers' knowledge, CAMI is the first chatbot to provide resources related to NDDs. Our work highlighted the importance of engaging end users to supplement standard generic ontologies to named entities for language recognition. It also demonstrates that complex medical and health-related information can be integrated using knowledge graphs and leveraging existing large datasets. This has multiple implications: generalizability to other health domains as well as reducing the need for experts and optimizing their input while keeping health care professionals in the loop. The researchers' work also shows how health and computer science domains need to collaborate to achieve the granularity needed to make chatbots truly useful and impactful.

The when, why, and how of using glycopyrronium to diminish drooling in children with neurodevelopmental disabilities: Implications for clinical practice.

BACKGROUND: Despite the established efficacy of glycopyrronium bromide in reducing drooling among children with neurodevelopmental disabilities, evidence on its impact on the daily lives of children and parents and effectiveness in a real-world setting are scarce, especially among long-term users. This study explored timing and duration of glycopyrronium treatment, effect and impact on daily life, and occurrence of side effects to inform clinical practice. METHODS: This was a retrospective cohort study at a national referral centre for drooling, including 61 children with nonprogressive neurodevelopmental disabilities, treated with glycopyrronium for anterior and/or posterior drooling between 2011 and 2021. Data were obtained from medical records and supplemented by structured telephone interviews with parents. RESULTS: Anterior drooling severity decreased in 82% of the included children. Changes in the impact of drooling on burden of care, social interaction, and self-esteem were reported in 55%, 31%, and 36%, respectively. Side effects were noted for 71% of cases, yet only 36% of parents deemed these as outweighing the positive impact of treatment. A substantial majority (77%) of the included children were long-term users (≥6 months). Among these, 38% of parents reported decreasing effectiveness and 27% noticed more prominent side effects over time. CONCLUSIONS: Glycopyrronium demonstrated potential in mitigating the impact of drooling on daily life, although variations were observed in the specific aspects and extent of improvement. The real-world context of our study provides important insights for refining clinical practices, emphasizing the need for balanced consideration of treatment benefits and potential side effects to facilitate shared decision-making.

Implementing 'Transforming Care' - The first two years of a pilot service for autistic adults experiencing mental health crisis warranting psychiatric admission.

BACKGROUND: Autistic adults are at increased risk of mental health difficulties; however Adult Mental Health Services (AMHS) often struggle to offer appropriate support to this group. Within England, Government initiatives, such as the 'Transforming Care' programme which included 'Building the Right Support' (NHS England, 2015) have promoted the need for AMHS to consider how they can better provide autism-informed support to autistic adults. AIMS/METHODS: Here, we describe the first two years of work of the Transforming Care in Autism (TCA) Team; a specialist service that supports autistic adults, without a moderate or severe intellectual disability or presenting significant risk to others, experiencing a mental health crisis. The service model is described, and descriptive data is presented over the two years of the service operation. RESULTS: Between February 2019 and February 2021, 110 referrals were received; 52 (47%) were accepted. Support offered to autistic adults included psychoeducation, psychological interventions, family-focused interventions, and consultation with professionals about specific individuals. Seventy autism training sessions were delivered to professionals working in medical health settings, AMHS, social care and residential services. CONCLUSIONS/IMPLICATIONS: Developing more autism-informed community and inpatient AMHS is vital for improving care. Further research about the experiences and needs of autistic adults using AMHS is needed, along with improved awareness of autism and provision of tailored intervention within these settings. LAY ABSTRACT: Autistic people have mental health problems more often than people who are not autistic. When autistic people need help from mental health services, often these services do not know how to help autistic people. The Government says mental health services must do more to help autistic people. In this paper we write about a new team, called the Transforming Care in Autism team. In its first two years the team was asked to help 110 people and worked with 52 of them. Help included talking to autistic people about how autism affects them and offering therapy. We also worked with families and professionals supporting autistic adults and offered 70 training sessions. More work is needed to make sure mental health services work well with autistic people. We also need to ask autistic people about their experiences of getting help from mental health services.

"It makes me a better person": The unique experiences of parenting multiple children who experience neurodevelopmental disability.

BACKGROUND: Much research has explored how raising a child with a neurodevelopmental disability influences parents' well-being. However, little research has focused on the unique experiences of parenting multiple children with neurodevelopmental disabilities. We explored the unique experiences of parenting multiple children with neurodevelopmental disabilities with a focus on mothers' well-being and social participation. METHODS: Ten mothers who parent multiple children with neurodevelopmental disabilities participated in semi-structured interviews. Interviews were analyzed using a reflexive thematic approach. RESULTS: Three themes were identified: 'Knowledge is power' described positive influences of enhanced disability knowledge and advocacy with each child who experienced disability. 'Shifts in wellbeing' acknowledged these mothers' exhaustion, decreased time for self-care, and invisible work, yet also increased feelings of empowerment, purpose and empathy for others. '(Dis)Connection and engagement with others' reflected struggles of balancing responsibilities, social and community participation, and experiences with isolation. Yet, mothers' also experienced enhanced disability community and family connections, and a sense of meaning and purpose. CONCLUSIONS AND IMPLICATIONS: Findings highlighted challenges, and many rewarding and unique experiences of parenting multiple children with neurodevelopmental disabilities. Health, education and social service practitioners are encouraged to acknowledge parent's challenges, but also celebrate and draw on families' strengths and knowledge.

Early identification of autism spectrum disorder in children with CHD attending a Cardiac Developmental Outcomes Program.

OBJECTIVE: To determine the prevalence and timing of autism spectrum disorder diagnosis in a cohort of congenital heart disease (CHD) patients receiving neurodevelopmental follow-up and identify associated risk factors. METHOD: Retrospective single-centre observational study of 361 children undergoing surgery for CHD during the first 6 months of life. Data abstracted included age at autism spectrum disorder diagnosis, child and maternal demographics, and medical history. RESULTS: Autism spectrum disorder was present in 9.1% of children with CHD, with a median age at diagnosis of 34 months and 87.9% male. Prematurity, history of post-operative extracorporeal membrane oxygenation, and seizures were higher among those with autism (p = 0.013, p = 0.023, p = 0.001, respectively). Infants with autism spectrum disorder were older at the time of surgery (54 days vs 13.5 days, p = 0.002), and infants with surgery at ≥ 30 days of age had an increased risk of autism spectrum disorder (OR 2.31; 95% CI =1.12, 4.77, p = 0.023). On multivariate logistic regression analysis, being male (OR 4.85, p = 0.005), surgery ≥ 30 days (OR 2.46, p = 0.025), extracorporeal membrane oxygenation (OR 4.91, p = 0.024), and seizures (OR 4.32, p = 0.003) remained associated with increased odds for autism spectrum disorder. Maternal age, race, ethnicity, and surgical complexity were not associated. CONCLUSIONS: Children with CHD in our cohort had more than three times the risk of autism spectrum disorder and were diagnosed at a much earlier age compared to the general population. Several factors (male, surgery at ≥ 30 days, post-operative extracorporeal membrane oxygenation, and seizures) were associated with increased odds of autism. These findings support the importance of offering neurodevelopmental follow-up after cardiac surgery in infancy.

Comparing the evidence for botulinum neurotoxin injections in paediatric anterior drooling: a scoping review.

Paediatric anterior drooling has a major impact on the daily lives of children and caregivers. Intraglandular botulinum neurotoxin type-A (BoNT-A) injections are considered an effective treatment to diminish drooling. However, there is no international consensus on which major salivary glands should be injected to obtain optimal treatment effect while minimizing the risk of side effects. This scoping review aimed to explore the evidence for submandibular BoNT-A injections and concurrent submandibular and parotid (i.e. four-gland) injections, respectively, and assess whether outcomes could be compared across studies to improve decision making regarding the optimal initial BoNT-A treatment approach for paediatric anterior drooling. PubMed, Embase, and Web of Science were searched to identify relevant studies (until October 1, 2023) on submandibular or four-gland BoNT-A injections for the treatment of anterior drooling in children with neurodevelopmental disabilities. Similarities and differences in treatment, patient, outcome, and follow-up characteristics were assessed. Twenty-eight papers were identified; 7 reporting on submandibular injections and 21 on four-gland injections. No major differences in treatment procedures or timing of follow-up were found. However, patient characteristics were poorly reported, there was great variety in outcome measurement, and the assessment of side effects was not clearly described.   Conclusion: This review highlights heterogeneity in outcome measures and patient population descriptors among studies on paediatric BoNT-A injections, limiting the ability to compare treatment effectiveness between submandibular and four-gland injections. These findings emphasize the need for more extensive and uniform reporting of patient characteristics and the implementation of a core outcome measurement set to allow for comparison of results between studies and facilitate the optimization of clinical practice guidelines. What is Known: • There is no international consensus on which salivary glands to initially inject with BoNT-A to treat paediatric drooling. What is New: • Concluding on the optimal initial BoNT-A treatment based on literature is currently infeasible. There is considerable heterogeneity in outcome measures used to quantify anterior drooling.and clinical characteristics of children treated with intraglandular BoNT-A are generally insufficiently reported. • Consensus-based sets of outcome measures and patient characteristics should be developed and implemented.

Five-year outcomes for extremely preterm babies with active perinatal management: A clinical prediction model.

OBJECTIVE: To develop and validate a clinical prediction model for outcomes at 5 years of age for children born extremely preterm and receiving active perinatal management. DESIGN: The EPIPAGE-2 national prospective cohort. SETTING: France, 2011. POPULATION: Live-born neonates between 24+0 and 26+6 weeks of gestation who received active perinatal management (i.e. birth in a tertiary-level hospital, with antenatal steroids and resuscitation at birth). METHODS: A prediction model using logistic modelling, including gestational age, small-for gestational-age (SGA) status and sex, was developed. Model performance was assessed through calibration and discrimination, with bootstrap internal validation. MAIN OUTCOME MEASURES: Survival without moderate or severe neurodevelopmental disability (NDD) at 5 years. RESULTS: Among the 557 neonates included, 401 (72%) survived to 5 years, of which 59% survived without NDD (95% CI 54% to 63%). Predicted rates of survival without NDD ranged from 45% (95% CI 33% to 57%), to 56% (95% CI 49% to 64%) to 64% (95% CI 57% to 70%) for neonates born at 24, 25 and 26 weeks of gestation, respectively. Predicted rates of survival without NDD were 47% (95% CI 18% to 76%) and 62% (95% CI 49% to 76%) for SGA and non-SGA children, respectively. The model showed good calibration (calibration slope 0.85, 95% CI 0.54 to 1.16; calibration-in-the-large -0.0123, 95% CI -0.25 to 0.23) and modest discrimination (C-index 0.59, 95% CI 0.53 to 0.65). CONCLUSIONS: A simple prediction model using three factors easily known antenatally may help doctors and families in their decision-making for extremely preterm neonates receiving active perinatal management.

Animal-assisted therapies for autism.

Animal-assisted therapies have been increasingly used as part of treatment for a range of emotional-behavioral conditions and have more recently been incorporated into treatment for children with symptoms associated with autism spectrum disorder. Autism spectrum disorder affects one in 36 children and early interventions can be very effective. The aims of this paper are to: 1) provide background into animal-assisted therapies including a breakdown on the subtypes of therapies, 2) report broad summaries of research outcomes across various domains: social-emotional, physical, quality of life, behavioral skills, and adaptive skills, and 3) summarize key takeaways for pediatric practitioners when supporting families of youth with autism spectrum disorder who are interested in participating in animal-assisted therapy. This paper is not a systematic review or meta-analysis as several rigorous review studies have been published already. This paper is an overview of the background and research for pediatric practitioners when advising families on treatment options. Implications for future research are covered.

Translation, cross-cultural adaptation and validation of the Rett syndrome motor evaluation scale (RESMES): Spanish version.

OBJECTIVE: To develop a Spanish version of the Rett Syndrome Motor Evaluation Scale (RESMES) for the locomotor function of Rett Syndrome (RTT) using a transcultural methodology. METHODS: The RESMES was cross-culturally adaptated and validated in the Spanish language (RESMES-sp). This study was divided into two well-differentiated phases: 1) a cross-cultural translation and adaptation; 2) psychometric characteristics analysis of the RESMES-sp (reliability, test-retest, construct validity, criteria validity, error measurements). For criteria validity, PAINAD questionnaire, the scoliosis values and PedsQL™, were used. RESULTS: A total of 63 girls and women diagnosed with RTT participated in this validation study. The total value of the RESMES-sp correlates significantly with all its dimensions, with the correlation value oscillating between 0.645 and 0.939. The correlation value with PAINAD ranges between 0.439 and 0.805; the scoliosis values ranges between 0.245 and 0.564; with PedsQOL™ questionnaire, the correlation values range between 0.273 and 0.663 for the PedsQL™ dimensions, and between 0.447 and 0.648 for the total value of PedsQOL™ questionnaire. The reliability values of Crombach's alpha ranged between 0.897 and 0.998 for the intra-observer analyses and between 0.904 and 0.998 for the inter-observer reliability. The SEM showed a value of 2,829, while the MDC90 showed a value of 6601. The Exploratory Factor Analysis showed 6 factors and values of variance of 86.163%. CONCLUSIONS: The Spanish version of the RESMES is a reliable and valid tool for the functional assessment and follow-up of patients with RTT.

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

BACKGROUND: Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and under-treated yet associated with a profound burden of disease. The contemporary evidence base for the identification and treatment of TAND is much more limited and, to date, consensus recommendations for the diagnosis and management of TAND have also been limited and non-specific. METHODS: The TANDem project was launched with an international, interdisciplinary, and participatory consortium of 24 individuals, including TSC family representatives, from all World Health Organization (WHO) regions but one. One of the aims of the TANDem project was to generate consensus recommendations for the identification and treatment of TAND. At the time of this project, no internationally adopted standard methodology and methodological checklists existed for the generation of clinical practice recommendations. We therefore developed our own systematic procedure for evidence review and consensus-building to generate evidence-informed consensus recommendations of relevance to the global TSC community. RESULTS: At the heart of the consensus recommendations are ten core principles surrounded by cluster-specific recommendations for each of the seven natural TAND clusters identified in the literature (autism-like, dysregulated behavior, eat/sleep, mood/anxiety, neuropsychological, overactive/impulsive, and scholastic) and a set of wraparound psychosocial cluster recommendations. The overarching recommendation is to "screen" for TAND at least annually, to "act" using appropriate next steps for evaluation and treatment, and to "repeat" the process to ensure early identification and early intervention with the most appropriate biological, psychological, and social evidence-informed approaches to support individuals with TSC and their families. CONCLUSIONS: The consensus recommendations should provide a systematic framework to approach the identification and treatment of TAND for health, educational, social care teams and families who live with TSC. To ensure global dissemination and implementation of these recommendations, partnerships with the international TSC community will be important. One of these steps will include the generation of a "TAND toolkit" of "what to seek" and "what to do" when difficulties are identified in TAND clusters.

Mental health services and resources for children with developmental disabilities and their families: scan of local practices, gaps, and opportunities created.

Background: Mental health concerns in children with disabilities are common and have a significant and negative impact. Clinicians have reported high demand for this population to receive early, targeted, and family-centred mental health interventions. Objective: We sought to map out and describe existing pediatric mental health services/resources for children with disabilities and their families across clinical sites and local and online communities. Methods: Using a mixed-method triangulation study design, we outreached to clinical managers at the participating clinical sites and conducted a rapid online search of local in-person, telehealth, and web-based information. The nature, access method, admission criteria, target, focus, and other pertinent information were recorded and analyzed using descriptive statistics and a narrative synthesis approach. Results: Eighty-one (n = 81) services/resources (in-person, n = 48; telehealth, n = 10; web-based information, n = 33) were identified. Few (n = 6, 13%) in-person services had a method of care access through an online booking portal. Nearly half of in-person resources (n = 23, 47%) had admission criteria specific for children with disabilities (e.g., diagnosis, age limit), and many (n = 32, 67%) required a formal referral. A small number of in-person and telehealth services targeted the mental health concerns of the entire family (n = 23, 47%; n = 2, 20%). Very few (n = 13, 16%) services incorporated follow-up support. Important gaps emerged for certain populations (e.g., children with cerebral palsy). Practitioners' inadequate training when intervening with co-existing mental health demands of children with disabilities was noted by clinical managers. Conclusion: Findings could be used to create a user-friendly database to easily identify suitable services and to advocate for services/resources that are lacking.

Use of Augmentative and Alternative Communication by Individuals with Rett Syndrome Part 2: High-Tech and Low-Tech Modalities.

The vast majority of individuals with Rett syndrome do not utilize natural speech and therefore require alternative and augmentative communication (AAC). The purpose of the current study was to investigate the use of high- and low-tech AAC modalities by three individuals with Rett syndrome given similar instruction for using both modalities. For all participants, the number of sessions to criterion and cumulative number of trials with independent requests during simultaneous or alternating instruction in the use of a high- and low-tech AAC modality were investigated. Parents conducted all sessions with remote coaching from a research assistant via telecommunication. Each participant exhibited idiosyncratic response patterns in terms of use of their high- and low-tech AAC modalities during instruction but ultimately demonstrated the ability to use both modalities to make requests. Implications for future research and practice pertaining to AAC of individuals with complex communication needs are discussed. This paper is a companion to Girtler et al. (2023).

Policy brief: adaptive cycling equipment for individuals with neurodevelopmental disabilities as durable medical equipment.

- Durable medical equipment (DME) policies require that the equipment be medically necessary; however, adaptive cycling equipment (bicycles and tricycles) are usually not deemed medically necessary. - Individuals with neurodevelopmental disabilities (NDD) are at high risk for secondary conditions, both physical and mental, that can be mitigated by increasing physical activity. - Significant financial costs are associated with the management of secondary conditions. - Adaptive cycling can provide improved physical health of individuals with NDD potentially reducing costs of comorbidities. - Expanding DME policies to include adaptive cycling equipment for qualifying individuals with NDD can increase access to equipment. - Regulations to ensure eligibility, proper fitting, prescription, and training can optimize health and wellbeing. - Programs for recycling or repurposing of equipment are warranted to optimize resources.

Cerebral oxygenation immediately after birth and long-term outcome in preterm neonates-a retrospective analysis.

BACKGROUND: Prematurity is associated with increased risk for morbidity and mortality. Aim of this study was to evaluate whether cerebral oxygenation during fetal-to-neonatal transition period was associated with long-term outcome in very preterm neonates. METHODS: Preterm neonates ≤ 32 weeks of gestation and/or ≤ 1500 g with measurements of cerebral regional oxygen saturation (crSO2) and cerebral fractional tissue oxygen extraction (cFTOE) within the first 15 min after birth were analysed retrospectively. Arterial oxygen saturation (SpO2) and heart rate (HR) were measured with pulse oximetry. Long-term outcome was assessed at two years using "Bayley Scales of Infant Development" (BSID-II/III). Included preterm neonates were stratified into two groups: adverse outcome group (BSID-III ≤ 70 or testing not possible due to severe cognitive impairment or mortality) or favorable outcome group (BSID-III > 70). As the association between gestational age and long-term outcome is well known, correction for gestational age might disguise the potential association between crSO2 and neurodevelopmental impairment. Therefore, due to an explorative approach the two groups were compared without correction for gestational age. RESULTS: Forty-two preterm neonates were included: adverse outcome group n = 13; favorable outcome group n = 29. Median(IQR) gestational age and birth weight were 24.8 weeks (24.2-29.8) and 760 g (670-1054) in adverse outcome group and 30.6 weeks (28.1-32.0) (p = 0.009*) and 1250 g (972-1390) (p = 0.001*) in the favorable outcome group, respectively. crSO2 was lower (significant in 10 out of 14 min) and cFTOE higher in adverse outcome group. There were no difference in SpO2, HR and fraction of inspired oxygen (FiO2), except for FiO2 in minute 11, with higher FiO2 in the adverse outcome group. CONCLUSION: Preterm neonates with adverse outcome had beside lower gestational age also a lower crSO2 during immediate fetal-to-neonatal transition when compared to preterm neonates with age appropriate outcome. Lower gestational age in the adverse outcome group would suggest beside lower crSO2 also lower SpO2 and HR in this group, which were however similar in both groups.