Developmental disability

PURPOSE: For children with neurodevelopmental disabilities (CWNDs), early diagnosis that leads to early intervention with regular targeted therapies is critical. In Qatar, private therapy centres that address this demand often have highly exclusive prices restricting families from availing them. This paper examines the challenges faced by families with CWNDs, as well as various financial and systemic obstacles, from the vantage point of these centres, all of which culminate in an extraordinarily high disability price tag for disability families in Qatar...

Despite policy emphasis on early identification, many children with Autism are diagnosed late, with some being diagnosed as late as adolescence. The objective of this study was to examine the demographics and clinical characteristics of school-age children and adolescents initially diagnosed with Autism age 7 and older, in an urban, university-affiliated multidisciplinary center that evaluates/treats youth with developmental disabilities. A chart review of all school-age children and adolescents referred for evaluation to determine if the child has developmental disabilities from January 2019 to May 2023 was performed...

As part of the special issue of Development and Psychopathology honoring the remarkable contributions of Dr Dante Cicchetti, the current paper attempts to describe the recent contributions that a developmental psychopathology perspective has made in understanding the development of alcohol use and alcohol-related problems over the lifespan. The paper also identifies some of the future challenges and research directions. Because the scope of this task far exceeds the confines of a journal length article this paper does not attempt a comprehensive review...

Biallelic pathogenic variations in the zinc finger protein 142 (ZNF142) gene are associated with neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM). This disorder is characterized by developmental delay, intellectual disability, speech delay, and movement disorders such as dystonia, tremor, ataxia, and chorea. Here, we report a patient who exhibited common neurological features and rarely reported brain MRI findings. Exome sequencing identified a novel biallelic variant in ZNF142 (c...

Despite having the same underlying genetic etiology, individuals with the same syndromic form of intellectual developmental disability (IDD) show a large degree of interindividual differences in cognition and IQ. Research indicates that up to 80% of the variation in IQ scores among individuals with syndromic IDDs is attributable to nongenetic effects, including social-environmental factors. In this narrative review, we summarize evidence of the influence that factors related to economic stability (focused on due to its prevalence in existing literature) have on IQ in individuals with syndromic IDDs...

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is caused by a loss-of-function mutation in CDKL5 gene, encoding a serine-threonine kinase highly expressed in the brain. CDD manifests with early-onset epilepsy, autism, motor impairment and severe intellectual disability. While there are no known treatments for CDD, the use of cannabidiol has recently been introduced into clinical practice for neurodevelopmental disorders. Given the increased clinical utilization of cannabidiol, we examined its efficacy in the CDKL5R59X knock-in (R59X) mice, a CDD model based on a human mutation that exhibits both lifelong seizure susceptibility and behavioural deficits...

BACKGROUND: Social, familial, and physiological stressors may put maternal-infant bonding at risk. Therefore, it is plausible that the stressful conditions brought on by COVID-19 could influence maternal-infant bonding. This study aimed to elucidate the contribution of COVID-19-related experience to variance in maternal-infant bonding, beyond that of established risk factors and as moderated by social support. METHODS: This longitudinal, multicenter study examined the relationship of demographic and obstetric variables, social support, postpartum depression, as well as COVID-19-related fear, exposure, and subjective difficulty with mother-infant bonding six months following birth...

This study aimed to parse between-person heterogeneity in growth of impulsivity across childhood and adolescence among participants enrolled in five childhood preventive intervention trials targeting conduct problems. In addition, we aimed to test profile membership in relation to adult psychopathologies. Measurement items representing impulsive behavior across grades 2, 4, 5, 7, 8, and 10, and aggression, substance use, suicidal ideation/attempts, and anxiety/depression in adulthood were integrated from the five trials ( N = 4,975)...

Early-life adversity as neglect or low socioeconomic status is associated with negative physical/mental health outcomes and plays an important role in health trajectories through life. The early-life environment has been shown to be encoded as changes in epigenetic markers that are retained for many years.We investigated the effect of maternal major financial problems (MFP) and material deprivation (MD) on their children's epigenome in the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort. Epigenetic aging, measured with epigenetic clocks, was weakly accelerated with increased MFP...

Inhibitory control plays an important role in children's cognitive and socioemotional development, including their psychopathology. It has been established that contextual factors such as socioeconomic status (SES) and parents' psychopathology are associated with children's inhibitory control. However, the relations between the neural correlates of inhibitory control and contextual factors have been rarely examined in longitudinal studies. In the present study, we used both event-related potential (ERP) components and time-frequency measures of inhibitory control to evaluate the neural pathways between contextual factors, including prenatal SES and maternal psychopathology, and children's behavioral and emotional problems in a large sample of children ( N = 560; 51...

The human PLAA gene encodes Phospholipase-A2-Activating-Protein (PLAA) involved in trafficking of membrane proteins. Through its PUL domain (PLAP, Ufd3p, and Lub1p), PLAA interacts with p97/VCP modulating synaptic vesicles recycling. Although few families carrying biallelic PLAA variants were reported with progressive neurodegeneration, consequences of monoallelic PLAA variants have not been elucidated. Using exome or genome sequencing we identified PLAA de-novo missense variants, affecting conserved residues within the PUL domain, in children affected with neurodevelopmental disorders (NDDs), including psychomotor regression, intellectual disability (ID) and autism spectrum disorders (ASDs)...

The aim of this study was to compare the impact of 8-weeks of power exercises compared to traditional strength exercises on motor abilities, muscle performance, and functional strength in children with ADHD. A total of 34 children with ADHD were randomized into two groups to receive functional power training ( n  = 17, M age: 121.2 ± 16.6 months) and traditional strength training ( n  = 17, M age: 116.1 ± 13.4 months). After the 8-week intervention, two-way ANOVA results with 95% confidence intervals showed no differences between the groups in motor skills, muscle power, or functional muscle strength...

Developmental delay (DD), or intellectual disability (ID) is a very large group of early onset disorders that affects 1-2% of children worldwide, which have diverse genetic causes that should be identified. Genetic studies can elucidate the pathogenesis underlying DD/ID. In this study, whole-exome sequencing (WES) was performed on 225 Chinese DD/ID children (208 cases were sequenced as proband-parent trio) who were classified into seven phenotype subgroups. The phenotype and genomic data of patients with DD/ID were further retrospectively analyzed...

As the contribution of de novo mutations (DNMs) to human genetic diseases has been gradually uncovered, analyzing the global research landscape over the past 20 years is essential. Because of the large and rapidly increasing number of publications in this field, understanding the current landscape of the contribution of DNMs in the human genome to genetic diseases remains a challenge. Bibliometric analysis provides an approach for visualizing these studies using information in published records in a specific field...

The Minnesota Longitudinal Study of Risk and Adaptation (MLSRA) is a landmark prospective, longitudinal study of human development focused on a sample of mothers experiencing poverty and their firstborn children. Although the MLSRA pioneered a number of important topics in the area of social and emotional development, it began with the more specific goal of examining the antecedents of child maltreatment. From that foundation and for more than 40 years, the study has produced a significant body of research on the origins, sequelae, and measurement of childhood abuse and neglect...

BACKGROUND/AIM(S): Globally, studies have shown that the dental disease burden among persons with intellectual and/or developmental disabilities (IDD) is high and can be attributed to lower utilization levels of dental services. The aim of the study was to assess the influence of income and financial subsidies on the utilization of dental care services among persons with IDD in Singapore. METHODS: Between August 2020 and August 2021, a cross-sectional study was conducted via centres offering Early Intervention Programme for Infants and Children, special education schools and adult associations in Singapore serving persons with IDD...

BACKGROUND: Little is known about the identification and educational placement of students considered to have intellectual disability in the Canadian context and, specifically, the province of Ontario. AIMS: The purpose of this study was to describe trends in the school-based identification of students with mild intellectual disability and developmental disability based on the Ontario criteria over a 14-year period, as well as current patterns characterizing classroom placement...

NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short stature, developmental delay, language impairment and other congenital abnormalities. The disease is caused by mutations in the NSUN2 gene, which encodes a tRNA cytosine methyltransferase that has an important role in spindle assembly during mitosis and chromosome segregation...

The adverse use of alcohol is a serious global public health problem. Maternal alcohol consumption during pregnancy usually causes prenatal alcohol exposure (PAE) in the developing fetus, leading to a spectrum of disorders known as fetal alcohol spectrum disorders (FASD) and even fetal alcohol syndrome (FAS) throughout the lifelong sufferers. The prevalence of FASD is approximately 7.7 per 1,000 worldwide, and is even higher in developed regions. Generally, Ethanol in alcoholic beverages can impair embryonic neurological development through multiple pathways leading to FASD...

In recent decades, the connections between academic skills, such as reading, writing, and calculation, and motor skills/capacities have received increasing attention. Many studies provided evidence for motor difficulties in children and adolescents with dyslexia, prompting the need for a meta-analysis to combine these multiple findings. Therefore, we conducted a meta-analysis using PsycINFO, Pubmed, and SportDiscus as scientific databases. A total of 572 studies were analyzed following several stringent inclusion criteria, resulting in the inclusion of 23 peer-reviewed studies in the final analysis...