"Developmental disorder"

Examining Permanent Contraception for Children, Adolescents, and Young Adults With Intellectual Developmental Disorder: Ethical, Legal, and Medical Considerations: Clinical Report publications.aap.orgVerify you are human by completing the action below.publications.aap.org needs to review the security of your connection before proceeding.Ray ID: 8e38449c5d804170Performance & security by Cloudflare

Increased awareness of developmental disorders can reduce stigma, research in Ethiopia finds Increased awareness of developmental disorders can reduce stigma, research in Ethiopia findsIncreased awareness of developmental disorders can reduce stigma, research in Ethiopia finds Skip to content * Accessibility options: * * Search articles Evidence * About Us * Browse content * Brain and Nerves to readMenu * About Us * Browse content * Become a reviewer * Newsletter Sign Up * Contact us * Homepage * > * Alert * > * Increased awareness of developmental disorders can reduce stigma, research in Ethiopia finds Increased awareness of developmental disorders can reduce stigma, research in Ethiopia findsMental Health 11.02.21 doi: 10.3310/alert_43880 View commentaries on this research This is a plain

Vitamin D levels of pregnant immigrant women and developmental disorders of language, learning and coordination in offspring. Prenatal vitamin D deficiency is a common health concern among immigrants. No previous studies have examined the associations between prenatal vitamin D levels and developmental disorders of language, scholastic skills, and coordination in an immigrant sample. The sample included 542 immigrant mothers of cases with language, scholastic, coordination or mixed developmental disorders, 443 immigrant mothers of controls without these disorders and 542 Finnish mothers of controls. Maternal vitamin D was measured in serum samples collected during early pregnancy and stored in a national biobank. The mean vitamin D levels during pregnancy were 25.0 (SD 14.4) nmol/L

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders. A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently

Association between general anesthesia for cesarean delivery and subsequent developmental disorders in children: a nationwide retrospective cohort study. Exposure to general anesthetics (GA) in early childhood is associated with developmental disorders. However, few studies have addressed in-utero exposure to anesthetics during delivery and subsequent developmental disorders in the offspring . This study aimed to investigate whether GA for cesarean delivery is associated with developmental disorders in children. Using data retrieved from the National Health Insurance Research Database linked to the Birth Reporting Database and the Maternal and Child Health Database between 2015 and 2020, this nationwide retrospective cohort study compared the incidence of developmental disorders following

Profiles of developmental disorder and associations with gestational age. This study aimed to examine profiles of co-occurrence of developmental disorders and their association with birth before full term. Latent class analysis of cohort data with linked health data. Bradford, England. 13 172 children were included in the analysis. Developmental disorder in medical records. Data were censored at each child's 12th birthday. The latent class analysis identified patterns of developmental disorders. Multinomial logistic regression explored the association with gestational age while adjusting for clinical and socio-factors. The majority (12,536) had a low risk of developmental disorders; this group was named 'typical development'. The remaining children were classified into three groups

Genetic modifiers of rare variants in monogenic developmental disorder loci. Rare damaging variants in a large number of genes are known to cause monogenic developmental disorders (DDs) and have also been shown to cause milder subclinical phenotypes in population cohorts. Here, we show that carrying multiple (2-5) rare damaging variants across 599 dominant DD genes has an additive adverse effect

Incidence of Nonsynostotic Plagiocephaly and Developmental Disorders. This is the first population-based study quantifying the incidence of nonsynostotic positional plagiocephaly and/or brachycephaly (PPB) in infancy and its association with developmental disorders. To report the incidence of PPB before age 1 year, the incidence of craniosynostosis, and the percentage of children with PPB diagnosed with a developmental disorder by age 7 years. This was a retrospective, population-based cohort study of children in the Rochester Epidemiology Project (REP) born in Olmsted County, Minnesota, from January 1, 2008, through December 31, 2012, with follow-up through age 7 years. Data were analyzed from March 2021 to April 2024. Physical examination detecting cranial deformity. The primary outcome

Social and Quality of Life Impact of Refractive Surgery in Children with Developmental Disorders and Spectacle Non-Adherence. Children with autism spectrum disorder (ASD) and intellectual disability (ID) often cannot tolerate wearing spectacles or contact lenses, which are the standard of care for treating ametropia.. We aimed to assess the impact of refractive surgery on social functioning

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants. Identifying pathogenic non-coding variants is challenging. A single protein-altering variant is often identified in a recessive gene in individuals with developmental disorders (DD), but the prevalence of pathogenic non-coding 'second hits' in trans with these is unknown. In 4,073 genetically

Relationship between sleep disturbance and developmental status in preschool-aged children with developmental disorder. Sleep has been known to affect childhood development. Sleep disturbance is likely more common in children with developmental delay (DD) than in typical development. There are few studies on the correlation between sleep disturbance and developmental features in children with DD

FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms. Rare, deleterious genetic variants in FLT4 are associated with Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease (CHD). Distinct genetic variants in FLT4 are also an established cause of Milroy disease, the most prevalent form of primary hereditary

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects. Erythrocyte Membrane Protein Band 4.1 Like 3 (EPB41L3: NM_012307.5), also known as DAL-1, encodes the ubiquitously expressed, neuronally enriched 4.1B protein, part of the 4.1 superfamily of membrane-cytoskeleton adaptors. 4.1B plays key roles in cell spreading, migration, and cytoskeletal transcripts, supporting NMD as a pathogenic mechanism. Epb41l3-deficient mouse oligodendroglia cells showed significant reduction in mRNA expression of key myelin genes, reduced branching, and increased apoptosis. Our report provides the first clinical description of an autosomal recessive disorder associated with variants in EPB41L3, which we refer to as EPB41L3-associated developmental disorder (EADD

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations. Autosomal recessive coding variants are well-known causes of rare disorders. We quantified the contribution of these variants to developmental disorders in a large, ancestrally diverse cohort comprising 29,745 trios, of whom 20.4% had genetically inferred non-European ancestries. The estimated fraction of patients attributable to exome-wide autosomal recessive coding variants ranged from ~2-19% across genetically inferred ancestry groups and was significantly correlated with average autozygosity. Established autosomal recessive developmental disorder-associated (ARDD) genes explained 84.0% of the total autosomal recessive coding burden, and 34.4% of the burden

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. FLVCR1 encodes a solute carrier (SLC) protein implicated in heme, choline, and ethanolamine transport. While Flvcr1 mice exhibit skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia (DBA), biallelic FLVCR1 variants in humans have and characterized a novel FLVCR1-related phenotype: severe developmental disorders with profound developmental delay, microcephaly (Z-score -2.5 to -10.5), brain malformations, epilepsy, spasticity, and premature death. Brain malformations ranged from mild brain volume reduction to hydranencephaly. Severely affected patients share traits including macrocytic anemia and skeletal malformations with Flvcr1 mice

Phenotypic spectrum of dual diagnoses in developmental disorders. As more patients receive genome-wide sequencing, the number of individuals diagnosed with multiple monogenic conditions is increasing. We sought to investigate the relative phenotypic contribution of dual diagnoses using both manual curation and computational approaches. First, we computed 1,003,236 semantic similarity scores for all possible pairs of 1,417 genes in the Developmental Disorder Gene2Phenotype (DDG2P) database using Human Phenotype Ontology terms. Next, for 62 probands with two molecular diagnoses in the Deciphering Developmental Disorders study, we computed semantic similarity scores between the probands' phenotypes and DDG2P phenotypes associated with the two disorders and compared the results with manual

Examining Permanent Contraception for Children, Adolescents, and Young Adults With Intellectual Developmental Disorder: Ethical, Legal, and Medical Considerations: Clinical Report. There have been significant advances in the medical and surgical options available for contraception and management of menses for individuals, including those with intellectual developmental disorder. This new statement frames the ethical, legal, and medical issues of permanent contraception in children, adolescents, and young adults with intellectual developmental disorder, emphasizing the importance of utilizing long-acting reversible and minimally invasive treatments, whenever possible. The historical use and abuse of permanent contraception is briefly reviewed, providing the foundation for ongoing ethical

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A

Editorial: The Importance of Screening for Developmental Disorders and Demonstrating Improved Health Outcomes. Screening for emotional, behavioral, and developmental disorders is generally considered to be a valuable activity in the child and youth developmental and mental health service sectors. The premise is that screening allows for early identification, which in turn allows for early intervention, which in turn leads to better long-term outcomes. While the hypothesized causal chain from screening to outcomes may seem long, the evidence base to support this aspiration is growing. In this issue of the Journal, the article by Rah et al. provides an important piece of the puzzle to support screening for developmental disorders in early childhood in particular and has a number of important

Multi-domain computerized cognitive training for children with intellectual developmental disorder: A randomized controlled trial. To verify the effects of multi-domain computerized cognitive training on intellectual function and adaptive functioning in children with intellectual developmental disorder (IDD). Children with IDD were randomized to a multi-domain computerized cognitive training