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Developmental Medicine and Child... Nov 2021
Topics: Child; Developmental Disabilities; Humans
PubMed: 34651310
DOI: 10.1111/dmcn.14995 -
Journal of Speech, Language, and... Jun 2023The aim of this scoping review was to map the research literature published in English and in peer-reviewed journals related to the home literacy environment of children... (Review)
Review
PURPOSE
The aim of this scoping review was to map the research literature published in English and in peer-reviewed journals related to the home literacy environment of children and youth aged 3-21 years with intellectual and developmental disabilities (IDD) who have significant support needs, including children with complex communication needs.
METHOD
A systematic search was conducted in four databases, along with forward and backward searching. The search yielded 60 studies, which included intervention and nonintervention studies. Data were charted related to participant characteristics, study focus, intervention components, study design and methodological rigor, and study results.
RESULTS
Findings provided insight into multiple dimensions of the home literacy environment for children with IDD, including the nature of parent views, practices, and interaction styles during shared reading. Findings also revealed gaps in the literature, specifically related to (a) limited representation of subgroups of children and youth with IDD, (b) limited representation of diverse families and caregivers, and (c) concerns about methodological quality.
CONCLUSION
This review identifies important directions for future research and suggests ways to improve the design and delivery of home literacy interventions for children and youth with IDD and their families, including through family-centered and culturally responsive models.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.22704817.
Topics: Adolescent; Humans; Child; Literacy; Developmental Disabilities; Parents; Caregivers; Communication; Intellectual Disability
PubMed: 37267447
DOI: 10.1044/2023_JSLHR-22-00334 -
Developmental Medicine and Child... Mar 2020
Topics: Cerebral Palsy; Developmental Disabilities; Humans
PubMed: 32128808
DOI: 10.1111/dmcn.14467 -
Developmental Medicine and Child... Jan 2020
Topics: Developmental Disabilities; Humans; Neurology; Pediatrics
PubMed: 31922255
DOI: 10.1111/dmcn.14409 -
Developmental Medicine and Child... Mar 2020
Topics: Developmental Disabilities; Humans; Neurology; Pediatrics
PubMed: 32128807
DOI: 10.1111/dmcn.14468 -
Science Advances Aug 2023The 1.6-megabase deletion at chromosome 3q29 (3q29Del) is the strongest identified genetic risk factor for schizophrenia, but the effects of this variant on...
The 1.6-megabase deletion at chromosome 3q29 (3q29Del) is the strongest identified genetic risk factor for schizophrenia, but the effects of this variant on neurodevelopment are not well understood. We interrogated the developing neural transcriptome in two experimental model systems with complementary advantages: isogenic human cortical organoids and isocortex from the 3q29Del mouse model. We profiled transcriptomes from isogenic cortical organoids that were aged for 2 and 12 months, as well as perinatal mouse isocortex, all at single-cell resolution. Systematic pathway analysis implicated dysregulation of mitochondrial function and energy metabolism. These molecular signatures were supported by analysis of oxidative phosphorylation protein complex expression in mouse brain and assays of mitochondrial function in engineered cell lines, which revealed a lack of metabolic flexibility and a contribution of the 3q29 gene Together, these data indicate that metabolic disruption is associated with 3q29Del and is conserved across species.
Topics: Child; Humans; Animals; Mice; Aged; Schizophrenia; Chromosome Deletion; Developmental Disabilities; Neocortex; Intellectual Disability
PubMed: 37585521
DOI: 10.1126/sciadv.adh0558 -
Maternal and Child Health Journal Sep 2019The effects of place on human health and development have been extensively studied in recent years in the adult and adolescent populations, but minimal research has...
The effects of place on human health and development have been extensively studied in recent years in the adult and adolescent populations, but minimal research has addressed neighborhood effects in early childhood. This analysis of the National Survey of Children's Health 2011/2012 cross-sectional survey examined relationships between risk for developmental disability in early childhood and neighborhood characteristics in a nationally-representative sample of children ages 0-5 years. Parents reported on their child's development using a well-validated parent report screening tool for developmental problems (the Parent's Evaluation of Developmental Status tool), and neighborhood and family characteristics. Multinomial logistic regression analyses were conducted for each of three neighborhood variables: physical disorder, safety, and isolation. After controlling for parental and child characteristics, the three neighborhood variables were each significantly associated with moderate (but not severe) risk versus low to no risk for developmental disabilities. When all neighborhood characteristics were included simultaneously in the same model, only physical disorder remained statistically significant [OR 1.44 (95% CI 1.09-1.91)], though modestly attenuated. These results suggest that neighborhoods may have effects on early childhood development, after controlling for individual child, parental, and family characteristics.
Topics: Adult; Child Development; Child, Preschool; Cross-Sectional Studies; Developmental Disabilities; Female; Geographic Mapping; Humans; Infant; Male; Residence Characteristics; Surveys and Questionnaires
PubMed: 31209617
DOI: 10.1007/s10995-019-02757-w -
Pediatric Neurology Aug 2020Mutations in the X-linked gene WDR45 cause neurodegeneration with brain iron accumulation type 5. Global developmental delay occurs at an early age with slow progression...
BACKGROUND
Mutations in the X-linked gene WDR45 cause neurodegeneration with brain iron accumulation type 5. Global developmental delay occurs at an early age with slow progression to dystonia, parkinsonism, and dementia due to progressive iron accumulation in the brain.
METHODS
We present 17 new cases and reviewed 106 reported cases of neurodegeneration with brain iron accumulation type 5. Detailed information related to developmental history and key time to event measures was collected.
RESULTS
Within this cohort, there were 19 males. Most individuals were molecularly diagnosed by whole-exome testing. Overall 10 novel variants were identified across 11 subjects. All individuals were affected by developmental delay, most prominently in verbal skills. Most individuals experienced a decline in motor and cognitive skills. Although most individuals were affected by seizures, the spectrum ranged from provoked seizures to intractable epilepsy. The imaging findings varied as well, often evolving over time. The classic iron accumulation in the globus pallidus and substantia nigra was noted in half of our cohort and was associated with older age of image acquisition, whereas myelination abnormalities were associated with younger age.
CONCLUSIONS
WDR45 mutations lead to a progressive and evolving disorder whose diagnosis is often delayed. Developmental delay and seizures predominate in early childhood, followed by a progressive decline of neurological function. There is variable expressivity in the clinical phenotypes of individuals with WDR45 mutations, suggesting that this gene should be considered in the diagnostic evaluation of children with myelination abnormalities, iron deposition, developmental delay, and epilepsy depending on the age at evaluation.
Topics: Adolescent; Adult; Carrier Proteins; Child; Child, Preschool; Cohort Studies; Demyelinating Diseases; Developmental Disabilities; Epilepsy; Female; Humans; Infant; Iron Metabolism Disorders; Male; Middle Aged; Neuroaxonal Dystrophies; Phenotype; Exome Sequencing; Young Adult
PubMed: 32387008
DOI: 10.1016/j.pediatrneurol.2020.03.005 -
Experimental & Molecular Medicine Mar 2021Zebrafish have several advantages compared to other vertebrate models used in modeling human diseases, particularly for large-scale genetic mutant and therapeutic... (Review)
Review
Zebrafish have several advantages compared to other vertebrate models used in modeling human diseases, particularly for large-scale genetic mutant and therapeutic compound screenings, and other biomedical research applications. With the impactful developments of CRISPR and next-generation sequencing technology, disease modeling in zebrafish is accelerating the understanding of the molecular mechanisms of human genetic diseases. These efforts are fundamental for the future of precision medicine because they provide new diagnostic and therapeutic solutions. This review focuses on zebrafish disease models for biomedical research, mainly in developmental disorders, mental disorders, and metabolic diseases.
Topics: Animals; Biomedical Research; Developmental Disabilities; Disease Models, Animal; Humans; Mental Disorders; Metabolic Diseases; Zebrafish
PubMed: 33649498
DOI: 10.1038/s12276-021-00571-5 -
Scientific Reports Jul 2021Studies have reported a dose-dependent relationship between gestational age and poorer school readiness. The study objective was to quantify the risk of developmental...
Studies have reported a dose-dependent relationship between gestational age and poorer school readiness. The study objective was to quantify the risk of developmental vulnerability for children at school entry, associated with gestational age at birth and to understand the impact of sociodemographic and other modifiable risk factors on these relationships. Linkage of population-level birth registration, hospital, and perinatal datasets to the Australian Early Development Census (AEDC), enabled follow-up of a cohort of 64,810 singleton children, from birth to school entry in either 2009, 2012, or 2015. The study outcome was teacher-reported child development on the AEDC with developmental vulnerability defined as domain scores < 10 percentile of the 2009 AEDC cohort. We used modified Poisson Regression to estimate relative risks (RR) and risk differences (RD) of developmental vulnerability between; (i) preterm birth and term-born children, and (ii) across gestational age categories. Compared to term-born children, adjustment for sociodemographic characteristics attenuated RR for all preterm birth categories. Further adjustment for modifiable risk factors such as preschool attendance and reading status at home had some additional impact across all gestational age groups, except for children born extremely preterm. The RR and RD for developmental vulnerability followed a reverse J-shaped relationship with gestational age. The RR of being classified as developmentally vulnerable was highest for children born extremely preterm and lowest for children born late-term. Adjustment for sociodemographic characteristics attenuated RR and RD for all gestational age categories, except for early-term born children. Children born prior to full-term are at a greater risk for developmental vulnerabilities at school entry. Elevated developmental vulnerability was largely explained by sociodemographic disadvantage. Elevated vulnerability in children born post-term is not explained by sociodemographic disadvantage to the same extent as in children born prior to full-term.
Topics: Child; Child Development; Child, Preschool; Developmental Disabilities; Female; Gestational Age; Humans; Infant, Newborn; Infant, Premature; Male; Mothers; Retrospective Studies; Socioeconomic Factors; Western Australia
PubMed: 34267259
DOI: 10.1038/s41598-021-93701-y