Project ECHO tele-mentoring primary care for individuals with IDD.

Background: As the prevalence of intellectual and developmental disabilities (IDD) has increased over time, more youth with IDD will be transitioning into adult care. Individuals with IDD have a spectrum of behavioral, medical, adaptive, and home/community support needs depending on their cognitive ability, behavior concerns, mobility impairment, and/or medical complexity. Unfortunately, data suggests that adult primary care providers often lack knowledge about the condition-specific medical and adaptive needs of the IDD population leading to decreased access to adequate primary care.

Health care transition quadruple aim outcomes for IDD: Scoping review.

Purpose: Structured HCT models addressing planning, transfer, and integration into adult care for adolescents and young adults with childhood-acquired chronic conditions are becoming more prevalent. However, consensus on outcome measures to assess health care transition (HCT) interventions particularly for intellectual and developmental disabilities (IDD) population is lacking. This scoping review identified potential HCT outcome measures for young adults (aged 18-26) with IDD using the Quadruple Aim Framework.

Integrating vocational supports into a transition clinic: A pilot program.

Objective: Pilot a clinical model and study to learn more about how employment impacts health in children and young adults with intellectual and developmental disabilities.

Background: As young individuals transition into adulthood, milestones such as independent living and gainful employment become paramount. However, for those with intellectual and developmental disabilities (IDD), these milestones can diverge notably from those of typically developing peers.

Health care transition recommendations for young people with intellectual and developmental disabilities and co-occurring mental health conditions: Stakeholder survey findings.

Background: Limited knowledge exists as to the supports and services young people with IDD and co-occurring mental health conditions need to transition to adult-focused health care and adulthood.

Methods: The survey findings presented were part of a larger investigation that explored these service and supports needs obtained from 144 respondents. Data reported for this investigation were obtained from 144 respondents who answered the question, "What do you think would be most helpful to assist young people with IDD and mental health conditions with the transition from child to adult health care (not including mental health care)?"Qualitative analysis based upon the social-ecological model was undertaken.

The relationship between serum phenylalanine levels, genotype, and developmental assessment test results in non-phenylketonuria mild hyperphenylalaninemia patients.

Unlabelled: Phenylalanine (PA) levels below 360 µmol/L do not require treatment; however, cognitive deficits have been observed in patients with elevated PA levels, necessitating a safe upper limit for treatment and therapeutic objectives. The main purpose of this study is to evaluate the correlation between developmental assessments (Denver Developmental Screening Test-II [DDST-II] and Ankara Developmental Screening Inventory [ADSI]) and electroencephalogram (EEG) findings with blood PA levels and genotypic data in non-phenylketonuria mild Hyperphenylalaninemia (HPA) patients, to re-evaluate their treatment status based on potential adverse outcomes. This study encompassed 40 patients aged 1-5 years diagnosed with HPA and not on treatment, identified through initial blood PA levels, and monitored for a minimum of 1 year on an unrestricted diet.

Caregivers and Coping: Well-Being, Depression, and Coping Strategies Among Caregivers of Young Adults With Developmental Disabilities.

This 10-year study followed 134 caregivers of young adults with autism and intellectual disabilities, examining the effects of caregivers' coping strategies, sociodemographic features, and young adult symptomatology on caregiver well-being and depression. Lower caregiver education and higher young adult externalizing behaviors predicted lower well-being and higher depression among caregivers. Caregivers who were Black or mixed-race experienced higher depression than White caregivers.

Resilience in Families of Autistic Children and Children With Intellectual Disability During the COVID-19 Pandemic.

Resilience in families of autistic children and children with intellectual disability is associated with factors such as family functioning, social support, and financial strain. Little is known about family resilience during the COVID-19 pandemic when many resources were limited. This study examined the association of family resilience with child characteristics, family resources, and socioecological factors during the pandemic.

Characterizing Automatically Maintained Self-Injury With the Aberrant Behavior Checklist.

Multidimensional variables linked to repetitive behavior, hyperactivity, and mood dysregulation are correlated with the prevalence and severity of self-injurious behavior (SIB) in individuals with intellectual and developmental disabilities (IDD). The purpose of this exploratory study was to examine differences in Aberrant Behavior Checklist (ABC) subscales between individuals with socially maintained SIB and automatically maintained SIB (ASIB). Overall, there were not significant differences in ABC subscale elevations between the SIB and ASIB groups.

Method of accessing alcohol and binge drinking status in youth and young adults.

Aims: The study investigated relationships between how youth and young adults access alcohol and their binge drinking behaviors.

Methods: Data from the Rhode Island Student Survey (11- to 18-year-olds) and the Mobile Screen Time project (18- to 24-year-old) were included. Participants were asked whether they access alcohol through several different methods (e.

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.

Neuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in axonal guidance, neuronal migration, and neurite growth necessary for neurodevelopment. Neuron navigator 3 (NAV3) is one of the three NAV proteins highly expressed in the embryonic and adult brain. However, the role of the NAV3 gene in human disease is not well-studied.

Screening for Depression in Caregivers of Children with Developmental Disabilities: A Quality Improvement Initiative.

Introduction: Screening for depression in caregivers of children with developmental disabilities is not routine, representing missed opportunities for support.

Method: A quality improvement project was initiated in our pediatric clinic. Root causes of limited screening included unclear guidelines for support, caregiver perception that help is unavailable, and lack of a quick screening tool.

Experiences, attitudes, and knowledge of medical students regarding intellectual and developmental disability: a Canadian study.

Background: As the healthcare of individuals with intellectual and developmental disabilities (IDD) shifts toward community-based services, physicians in all areas of medicine are more likely to care for this population. To ensure that all physicians can provide high-quality care to people with IDD, further understanding and attention to undergraduate medical education related to IDD is needed.

Methods: A 24-item survey assessed the experiences, attitudes, knowledge, skills, and future interest of Canadian medical students regarding IDD.

Caregiver-centric interventions for family carers of children with neurodevelopmental disorders in India - A scoping review.

Caregiving for children with neurodevelopment disorders (NDDs) can be a lifelong process that takes hold of an individual's time, energy, and resources. This raises a question about the caregivers' needs and concerns and the extent to which they receive medical or psychological attention during caregiving. This scoping review examines the psychosocial interventions conducted in India for caregivers of children with NDDs.

Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome.

Background: Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS.

Programme Recipient and Facilitator Experiences of Positive Family Connections for Families of Children With Intellectual Disabilities and/or Who Are Autistic.

Background: Family members of children with developmental disabilities on average report poorer family functioning and mental health. Positive Family Connections is a co-produced, positively-oriented, family-systems support programme for families of children with developmental disabilities aged 8-13. We investigated experiences of Positive Family Connections, and the processes involved in change.

Give me a sign(ature): Converging on the CSC of glioblastoma.

The identification of stem cells in glioblastomas has been controversial. In this issue of Neuron, Xie et al. establish gene signatures for cellular states and a quiescent cancer stem cell (qCSC) and demonstrate that the qCSC population expands in recurrence.

Healthcare outcomes and special education eligibility in children with congenital CMV.

Objectives: Congenital cytomegalovirus disease (cCMV) can have significant sensory and neurodevelopmental sequelae throughout childhood. Many of these sequalae are consistent with special education eligibility, but the special education needs of affected children have not been systematically studied.

Methods: Retrospective chart reviews from two cohorts of cCMV children receiving care in a large tertiary care children's hospital were included in this study: a historical research cohort (N = 186, 41% symptomatic at birth) and a contemporary clinical cohort of cCMV patients (N = 112, 68% symptomatic at birth).

Comparison of the Effectiveness of Online and Face-to-Face Parent Training for Parents of Children With Developmental Disabilities.

Background: Parent training (PT) is an effective intervention for improving children's behavioral problems and enhancing parental mental health in those caring for children with developmental disabilities (DD). Recent studies report the effectiveness of online PT (ON-PT). ON-PT encompasses both the on-demand type and the real-time type, which involves real-time online group PT delivered through web conferencing systems.

Pain, dietary habits and physical activity of children with developmental disabilities in Croatia, North Macedonia and Serbia: a cross-sectional study.

Background: Multiple studies have shown that children with developmental disabilities (CDD) often live with unrecognized and untreated pain, consume inadequate diet and have inadequate levels of physical activity. This study aimed to analyze pain, dietary habits and physical activity of CDD in Croatia, North Macedonia and Serbia.

Methods: A cross-sectional study was conducted in Croatia, North Macedonia and Serbia in March-April 2023 within the Erasmus+ SynergyEd project.

Torticollis as an early manifestation of basilar invagination in a paediatric patient.

This case report describes the clinical journey of a male patient in early childhood with developmental delay, failure to thrive, worsening right-sided head tilt torticollis and regression of motor skills with spasticity of the lower limbs. The case was complex due to the early onset and gradually worsening symptoms, including a decline in established motor milestones. Genetic testing to investigate the delayed neurodevelopment revealed a variant that did not fully explain the patient's phenotype.

Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients.

Objective: Temple syndrome (TS14) is a rare 14q32.2-related imprinting disorder. Here, we report comprehensive clinical findings in TS14.

Autism diagnoses in school-age children in southern Trøndelag 2016-2019.

Background: We have previously reported a significantly higher prevalence of autism spectrum disorders in southern Trøndelag among preschool children with mothers from a different national background than Norway. In this study, we wanted to investigate whether, in the same period and in the same geographic area, there was also an excess prevalence among school-age children. Additionally, we wanted to identify psychiatric and developmental comorbidities.