Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.

Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.

Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.

A pilot-test to support healthcare providers in promoting vaccine uptake among individuals with intellectual and developmental disabilities.

Individuals with intellectual and/or developmental disabilities (I/DDs) encounter barriers to vaccine access, uptake, and confidence, leading to health inequities. These include barriers related to healthcare provider capacity to effectively address the social determinants of health, provide accessible needle procedures, and translate and disseminate inclusive public health information. The current study aimed to test the preliminary effectiveness of a virtual continuing medical education (CME) course on enhancing healthcare provider capacity to address these barriers.

We All Need at Least One Friend Who Understands What We Do Not Say: A Scoping Review of Friendship and Augmentative and Alternative Communication.

Purpose: The purpose of this scoping review was to understand what is known about the friendships of individuals who use augmentative and alternative communication (AAC) devices. Because communication is important to friendship, severe communication impairment may impact the establishment or maintenance of friendships in unique and important ways.

Method: Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines for scoping reviews and Covidence software using an established set of operationally defined inclusion criteria supported the identification of the 46 papers included in this review.

Novel Copy Number Deletion Involving Associated With Epilepsy, Tremor, and Intellectual Disability.

Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.

Three-Dimensional Gait Analysis of School-Age Children With Angelman Syndrome: A Case-Control Study.

Gait disturbance is a common motor symptom in Angelman syndrome (AS), but its characteristics have been poorly studied quantitatively. This study aimed to analyze gait characteristics in school-age children with AS using three-dimensional gait analysis (3DGA). Patients with clinically and genetically confirmed AS and healthy children aged 6-15 years were included.

Impact of Social Disadvantage on Medical and Functional Severity in Children With Cerebral Palsy.

Background: Those with neurological disorders like cerebral palsy (CP) may experience an altered impact of social determinates of health on child functioning and well-being. We investigated the relationship between relative social advantage and medical and functional outcomes in a large cohort of children, adolescents and young adults with CP (n = 1269, aged 2-84 years).

Methods: We extracted data from the Cerebral Palsy Research Registry and dichotomized a range of independent factors (income, ethnicity and race) into advantaged and disadvantaged/vulnerable and a range of medical and functional outcomes (gross motor, manual ability, behaviour, breathing, nutritional intake, hearing, seizures, language and vision) and computed odds ratios using logistic regression.

Frequency of Missing TNM Stage Data for Adults With Intellectual or Developmental Disabilities in a Provincial Cancer Registry-A Brief Report.

Background: Adults with intellectual or developmental disability (IDD) are at higher risk for incomplete cancer staging.

Aim: To compare unknown stage data between those with and without IDD.

Materials And Methods: We used the Ontario Cancer Registry linked to administrative health data between 2007 and 2019.

An Affective-Sexual Education Program for People With Moderate Intellectual Disabilities: Analysis of Its Effectiveness in the Spanish Context.

Introduction: Affective-sexual education is essential for all people, regardless of their intellectual capacity. However, people with intellectual disabilities, and especially those with conceptual, social, and practical limitations, may face additional challenges. In this study, we evaluate the effectiveness of the Saludiversex-M affective-sexual education program for people with moderate intellectual disabilities using a controlled trial design.

Endothelial-secreted Endocan activates PDGFRA and regulates vascularity and spatial phenotype in glioblastoma.

Extensive neovascularization is a hallmark of glioblastoma (GBM). In addition to supplying oxygen and nutrients, vascular endothelial cells provide trophic support to GBM cells via paracrine signaling. Here we report that Endocan (ESM1), an endothelial-secreted proteoglycan, confers enhanced proliferative, migratory, and angiogenic properties to GBM cells and regulates their spatial identity.

Tele-rehabilitation for children with physical disabilities: qualitative exploration of challenges in Iran.

Background: Children with physical disabilities (Having this type of disability can be due to any of the reasons such as cerebral palsy, genetic, developmental, neurodevelopment and any other reasons that cause physical disability in the child) need rehabilitation services. Tele-rehabilitation is a practical approach to provide rehabilitation services for children with rapid and continuous access. This approach has been used more recently and overcomes the limitations of conventional rehabilitation, which involves wasting time, traveling distance, and cost.

Single-nucleus RNA sequencing reveals distinct pathophysiological trophoblast signatures in spontaneous preterm birth subtypes.

Spontaneous preterm birth (sPTB) poses significant challenges, affecting neonatal health and neurodevelopmental outcomes worldwide. The specific effects of placental trophoblasts on the pathological development of sPTB subtypes-preterm premature rupture of fetal membranes (pPROM) and spontaneous preterm labor (sPTL)-are not fully understood, making it crucial to uncover these impacts for the development of effective therapeutic strategies. Using single-nucleus RNA sequencing, we investigated transcriptomic and cellular differences at the maternal-fetal interface in pPROM and sPTL placentas.

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.

Fragile X syndrome (FXS) is a genetic condition caused by the inheritance of alleles with >200 CGG repeats in the 5' UTR of the fragile X messenger ribonucleoprotein 1 () gene. These full mutation (FM) alleles are associated with DNA methylation and gene silencing, which result in intellectual disabilities, developmental delays, and social and behavioral issues. Mosaicism for both the size of the CGG repeat tract and the extent of its methylation is commonly observed in individuals with the FM.

Chronobiology in Paediatric Neurological and Neuropsychiatric Disorders: Harmonizing Care with Biological Clocks.

: Chronobiology has gained attention in the context of paediatric neurological and neuropsychiatric disorders, including migraine, epilepsy, autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and post-traumatic stress disorder (PTSD). Disruptions in circadian rhythms are associated with key symptoms such as sleep disturbances, mood dysregulation, and cognitive impairments, suggesting a potential for chronobiology-based therapeutic approaches. : This narrative review employs a systematic approach to identify relevant studies through searches of three major scientific databases, NCBI/PubMed, ScienceDirect, and Scopus, up to July 2024.

Project Initiate: A Clinical Feasibility Trial of Equitable Access to Early Neurodevelopmental Therapy.

Despite evidence of the effectiveness of early intervention (EI) programs, eligible infants often experience delays in initiation of services or fail to receive services entirely. Disparities have been documented, including lower enrollment rates for infants with public insurance. The objective of this pilot study was to evaluate the feasibility of initiating home physical therapy (PT) services promptly after neonatal or cardiac intensive care unit (NICU/CICU) discharge for infants with public insurance and to assess early motor outcomes for children who received study therapy compared with a standard of care group.

The Use of the Parents' Evaluation of Developmental Status and Developmental Milestones in Screening Children for Developmental Delay in India.

Background/objectives: The Parents' Evaluation of Developmental Status (PEDS) and Developmental Milestones (PEDS:DM) are cost-effective, self-report tools that can be conveniently utilized in low- and middle-income countries to screen for developmental delays in children. This study assessed the diagnostic accuracy of PEDS and PEDS:DM in distinguishing children with typical development (TD) from those with developmental disabilities (DD). It also examined the relationship between parents' general concerns and specific developmental concerns about their children.

Exploring the Links Between Coping Strategies, Emotional Intelligence, and Age in Adolescents with Neuromotor Disabilities.

Background/objectives: The aim of this study is to explore the relationship between emotional intelligence and coping strategies used by adolescents with disabilities, on the one hand to understand how emotional skills influence stress management and everyday challenges and, on the other hand, considering that it could help specialists to develop interventions and educational programs that support the improvement of emotional skills and coping strategies among adolescents with disabilities.

Methods: This cross-sectional study included 100 Romanian adolescents with neuromotor disabilities aged 13 to 18 years (M = 15.2) divided into three groups according to the stages of adolescence: Group 1 (13 years-46 respondents), Group 2 (14 to 17 years-26 respondents), and Group 3 (18 years-28 respondents).

Testing a Family Conflict Intervention for Parents and Typically Developing Adolescent Siblings of Individuals with Intellectual and/or Developmental Disabilities.

Parents and typically developing (TD) youth siblings of individuals with intellectual and/or developmental disabilities (IDD) often experience greater caregiving burden, stress, and hardships in family functioning. They are at increased risk of family conflict and youth adjustment problems when TD siblings are adolescents since they need to balance caregiving responsibilities and various changes that naturally occur during adolescence. However, there is a lack of intervention research on parents and TD adolescent siblings that focuses on family conflict and family-wide participation.

Reports of Echolalia and Related Behaviors in Autism From Parents, Teachers, and Clinicians: Evidence From the Simon Simplex Collection.

Echolalia, the immediate or delayed repetition of speech, is a core diagnostic criterion for autism spectrum disorder. It has been studied for over 50 years and is well-described; however, no consensus on prevalence estimates exists for echolalia's occurrence in autistic youth. The current study sought to (1) describe endorsement of echolalia-related items using parent-, teacher-, and clinician-reports in a well-validated sample of autistic youth and (2) characterize relations between echolalia and other key factors, including age, language ability, and repetitive behaviors.

Long-term, cell type-specific effects of prenatal stress on dorsal striatum and relevant behaviors in mice.

Maternal stress during pregnancy, or prenatal stress, is a risk factor for neurodevelopmental disorders in offspring, including autism spectrum disorder (ASD). In ASD, dorsal striatum displays abnormalities correlating with symptom severity, but there is a gap in knowledge about dorsal striatal cellular and molecular mechanisms that may contribute. Using a mouse model, we investigated how prenatal stress impacted striatal-dependent behavior in adult offspring.

Adverse childhood experiences and adult alcohol use during pregnancy - 41 U.S. jurisdictions, 2019-2023.

Introduction: Adverse childhood experiences (ACEs) are preventable, potentially traumatic events that occur in childhood. Alcohol use during pregnancy can result in miscarriage, stillbirth, preterm birth, and a range of lifelong behavioral, intellectual, and physical disabilities in the child. Limited research has examined the relationship between ACEs and alcohol use in pregnancy; available studies might not reflect current trends in this relationship.

Broadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.

White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.

Characterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne/Becker Muscular Dystrophy.

Duchenne/Becker muscular dystrophy (DMD/BMD) manifests progressive muscular dystrophy and non-progressive central nervous disorder. The neural disorder is possibly caused by abnormalities in the developmental period; however, basic research to understand the mechanisms remains underdeveloped. The responsible gene, Dmd (dystrophin), generates multiple products derived from several gene promoters.

[Properties of the Test of Early Learning and Development, second edition "TADI", in the context of scale validation policies for children under 6 years of age in Chile and Latin America].

Unlabelled: In Latin America, scales have been built to assess Early Child Development (EChD), most of them for direct evaluations. In Chile, the Psychomotor Development Evaluation Scale (EEDP) and the Test of Psychomotor Development (TEPSI) were developed in the 70's and 80's and are still used in different Spanish-speaking countries, but have not been updated or revalidated. In response to the need for a new instrument built in Chile for the evaluation of EChD on a large scale, the Test of Early Learning and Development (TADI-2, for its acronym in Spanish) was built and standardized between 2009 and 2012.