Risk of adverse birth outcomes and birth defects among women living with HIV on antiretroviral therapy and HIV-negative women in Uganda, 2015-2021.

Introduction: We assessed the risk of adverse pregnancy and birth outcomes and birth defects among women living with HIV (WLHIV) on antiretroviral therapy (ART) and HIV-negative women.

Methods: We analyzed data on live births, stillbirths, and spontaneous abortions during 2015-2021 from a hospital-based birth defects surveillance system in Kampala, Uganda. ART regimens were recorded from hospital records and maternal self-reports.

Recent developments in translational imaging of in vivo gene therapy outcomes.

Gene therapy achieves therapeutic benefits by delivering genetic materials, packaged within a delivery vehicle, to target cells with defective genes. This approach has shown promise in treating various conditions, including cancer, metabolic disorders, and tissue-degenerative diseases. Over the past 5 years, molecular imaging has increasingly supported gene therapy development in both preclinical and clinical studies.

Perineuronal nets on CA2 pyramidal cells and parvalbumin-expressing cells differentially regulate hippocampal dependent memory.

Perineuronal nets (PNNs) are a specialized extracellular matrix that surround certain populations of neurons, including (inhibitory) parvalbumin (PV) expressing-interneurons throughout the brain and (excitatory) CA2 pyramidal neurons in hippocampus. PNNs are thought to regulate synaptic plasticity by stabilizing synapses and as such, could regulate learning and memory. Most often, PNN functions are queried using enzymatic degradation with chondroitinase, but that approach does not differentiate PNNs on CA2 neurons from those on adjacent PV cells.

Metabolomics of mothers of children with autism, idiopathic developmental delay, and Down syndrome.

Developmental delays have been associated with metabolic disturbances in children. Previous research in the childhood autism risk from genetics and the environment (CHARGE) case-control study identified neurodevelopment-related plasma metabolites in children, suggesting disturbances in the energy-related tricarboxylic acid (TCA) cycle and 1-carbon metabolism (1CM). Here, we investigated associations between children's neurodevelopmental outcomes and their mothers' plasma metabolite profiles in a subset of mother-child dyads from CHARGE, including those with autism spectrum disorder (ASD, n = 209), Down syndrome (DS, n = 76), idiopathic developmental delay (iDD, n = 64), and typically developed (TD, n = 185) controls.

Patterns of the left thalamus embedding into the connectome associated with reading skills in children with reading disabilities.

We examined how thalamocortical connectivity structure reflects children's reading performance. Diffusion-weighted MRI at 3 T and a series of reading measures were collected from 64 children (33 girls) ages 8-14 years with and without dyslexia. The topological properties of the left and right thalamus were computed based on the whole-brain white matter network and a hub-attached reading network, and were correlated with scores on several tests of children's reading and reading-related abilities.

Sleep complaints in individuals with SYNGAP1-associated syndrome.

Neurodevelopmental disorders pose significant clinical challenges related to atypical brain development, often manifesting as learning disabilities, developmental delays, intellectual deficits, behavioral issues, epilepsy, and sleep disturbances. Among genetic neuropsychiatric conditions, synaptopathies are notable for their impact on synaptic function, resulting in varied neuropsychiatric phenotypes. Among these, SYNGAP1-associated syndrome is characterized by intellectual disability, global developmental delay, autism, and epilepsy, primarily due to loss-of-function mutations.

Objective and subjective participation mediate the relationship between developmental coordination disorder (DCD) and well-being aspects.

Purpose: Developmental coordination disorder (DCD) is associated with poor well-being and objective participation (i.e., frequency of engagement in activities, performance level) and decreased subjective participation (i.

Psychometric Properties of The Parental Stress Scale for Parents of Children with Intellectual and Developmental Disabilities.

Parental stress can be debilitating for parents and their families. This is particularly true for parents who have a child with autism spectrum disorder (ASD) or other intellectual and developmental disability (I/DD). Effective screening and measurement of parental stress leads to accurate and effective intervention.

Developmental delay and associated factors among HIV-infected under-five children in public health facilities, Southern Ethiopia.

Delays in development that occur during early childhood can have long-lasting consequences, potentially leading to poor academic achievement. Research has shown that the human immunodeficiency virus can have neurotropic effects, which may impact the development of the brain in infected children. However, there is a scarcity of evidence regarding developmental delays among children with human immunodeficiency virus in the study area.

Differential Associations Between Device-Assessed and Parent-Reported Physical Activity With Indicators of Mental Health in Children and Youth With Disabilities.

Purpose: We examined associations between device-assessed and parent-reported physical activity with mental health indicators among children and youth with disabilities.

Method: Physical activity and mental health data were collected from a larger national surveillance study of physical activity in children and youth with disabilities in Canada. A total of 122 children and youth with disabilities (mean age = 10 y; 80% boys, 57% with developmental disability) wore a Fitbit for 28 days to measure their daily steps.

Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome.

Background: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of WM abnormalities seems to correlate with the severity of clinical symptoms, but these deficits are still poorly characterized or understood. This study provides the first large-scale measurement of WM volume reduction in children with AS.

[Autosomal dominant intellectual developmental disorder 60 with seizures: a case report].

The patient is a 10-month and 21-day-old girl who began to show developmental delays at 3 months of age, with severe language developmental disorders, stereotyped movements, and easily provoked laughter. Physical examination revealed fair skin and a flattened occiput. At 10 months of age, a video electroencephalogram suggested atypical absence seizures, with migrating slow-wave activity observed during the interictal period.

A novel frameshift mutation in ADCK1 identified in a case of chronic fatigue syndrome successfully treated with oral 5-ALA/SFC.

Chronic Fatigue Syndrome (CFS) is a complex disorder characterized by prolonged, unexplained fatigue and challenging diagnosis. We report the case of a 35-year-old Japanese woman with CFS who had experienced chronic fatigue since the age of 11 years. Despite treatment with modafinil, methylphenidate, levocarnitine, and ubiquinone, the symptoms persisted.

MTSS implementation in residential and day habilitation settings: A scoping review.

Although Multi-Tiered Systems of Support (MTSS) has been used in schools, its success has prompted recommendations for its adoption in group home and day habilitation settings. This scoping review examines the literature on implementing MTSS in group home and day habilitation settings for individuals with intellectual and developmental disabilities. Of the 15 studies reviewed, most focused on Positive Behavior Interventions and Supports (PBIS) rather than a comprehensive MTSS framework, raising questions about the alignment of interventions with the three-tiered structure of MTSS.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

"They need to speak a language everyone can understand": Accessibility of COVID-19 vaccine information for Canadian adults with intellectual and developmental disabilities.

Accessible vaccine information is one vital component of effective vaccination programs, however, there is limited research that explores how people with disabilities engage with public health messaging. This study aimed to understand how adults with intellectual and developmental disabilities (IDD) and their caregivers navigated Canada's public health communications regarding COVID-19 vaccines. A national survey on the accessibility of vaccine information was conducted in the spring and summer of 2022.

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

Background: GTPBP3 catalyzes τm(s) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τmU leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain.

Methods: By using whole-exome sequencing, the candidate individuals carrying GTPBP3 variants were screened and identified.

Understanding the intersection of prenatal alcohol exposure and postnatal adversity: A systematic review from a developmental psychopathology lens.

Fetal alcohol spectrum disorders (FASD) are among the most common neurodevelopmental disabilities. Individuals with FASD experience postnatal adversity (PA; i.e.

Case 336.

A 10-month-old female infant, who was second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness. Birth had occurred at 41 weeks, after an uneventful pregnancy and delivery, to nonconsanguineous parents. Noticeably, the child could not hold her head up at 4 months or sit at 10 months of age.

Factors Associated With Depression in Caregivers of Adults With Down Syndrome.

Background: Family caregivers of those with developmental disabilities have higher rates of depression and anxiety compared with caregivers of those without development disability. Few studies have examined factors that contribute to caregiver depression, including the appraisal of caregiving responsibilities and the physical fitness and daily function of the care recipient. The purpose of this study was to identify intrapersonal (caregiver) and interpersonal (care recipient) factors associated with depressive symptoms in caregivers of adults with Down syndrome (DS).

Wellbeing of Family Carers of Adults With Intellectual Disabilities During the COVID-19 Pandemic in the UK: Longitudinal Study.

Background: Longitudinal studies of family carers of people with intellectual disabilities during the COVID-19 pandemic have been very rare. This study investigated trajectories of family-carer wellbeing and the impact of the caring role on carers' health over four time points measured during the COVID-19 pandemic and after all public health restrictions had been lifted (between December 2020 and late 2022) across the United Kingdom.

Methods: Family carers of adults with intellectual disabilities participated through a co-designed, online survey at four time points across the pandemic (2020-2022).

Anti-GluK2 Encephalitis in an Asian Child: A Case Report and Literature Review.

Background: Anti-glutamate kainate receptor subunit 2 (anti-GluK2) antibodies mediated encephalitis is very rare in both children and adults. This study aimed to describe the second report of the anti-GluK2 encephalitis worldwide, the first youngest patient worldwide, and the first case ever in Asia. Besides, this study provides a summary of the clinical manifestations of all previous reported cases.

Childhood and Adulthood Predictors of Community Participation by Autistic Adults With and Without Intellectual Disability.

Background: Few studies have explored community participation for autistic adults, with or without intellectual disability. This study aims to investigate how autistic adults participate in the community, and the childhood and adulthood factors that predict community participation in adulthood.

Method: Eighty-four autistic adults (mean age 34 years; 67% with co-occurring intellectual disability) initially recruited as children and adolescents, participated in the current study.

Effects of mini-basketball training on improving the motor coordination of children with intellectual disabilities and developmental coordination disorders: a randomizedcontrolled trial.

Background: Motor coordination (MC) is one of the main components of motor competence. Children with Intellectual disabilities (ID) usually have weaknesses in MC and related components. Therefore, the aim of study was to investigate the effect of mini-basketball training (MBT) versus general physical education programs on improving the motor coordination of children with intellectual disabilities ID.

Genetic analysis of partial duplication of the long arm of chromosome 16.

Background: Pure partial trisomy 16q12.1q22.1 is a rare chromosome copy number variant (CNV).