-
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 -
International Journal of Environmental... Aug 2022Parenting children with developmental disabilities (DD) can be generally characterized by a considerable psychological burden. The effects on parental and familial... (Review)
Review
Parenting children with developmental disabilities (DD) can be generally characterized by a considerable psychological burden. The effects on parental and familial psychological well-being and, consequently, on children's developmental outcomes should not be underestimated, especially in early childhood. The current review aims to advance our understanding of the key factors (e.g., formats, sample characteristics, research design) that characterize parent training interventions, and that could be related to their outcomes, to guide researchers and clinical practitioners to develop and provide efficient programs. Studies were identified via an Internet search from three electronic databases, following PRIMSA guidelines. Studies published until November 2021 were taken into account. The initial search yielded a total of 2475 studies. Among them, 101 studies were fully reviewed. Finally, ten of the studies, which met all the inclusion criteria, formed the basis for this review. Participants' characteristics, main features of the interventions (i.e., study design, structure, and contents), outcome variables and treatment efficacy were deeply examined and discussed. Key factors of parent training interventions with parents of children affected by DD are enlightened, to guide researchers and clinicians in the design and implementation of tailored specific programs, aimed to sustain parenting and foster children's developmental outcomes, from early stages of life.
Topics: Child; Child, Preschool; Developmental Disabilities; Humans; Parenting
PubMed: 35955038
DOI: 10.3390/ijerph19159685 -
International Journal of Qualitative... Dec 2024For children with neurodevelopmental disabilities (CWNDs), early diagnosis that leads to early intervention with regular targeted therapies is critical. In Qatar,...
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.
METHODS
This study is based on qualitative, semi-structured, and in-depth interviews with private therapy centres and developmental paediatricians.
RESULTS
Therapy centre representatives expressed common struggles in lengthy and cumbersome administration and licencing procedures, difficulty in hiring and retaining high quality staff, and expenses that need to be paid to the state. From their experience, families largely struggle with delayed diagnoses that significantly slow down intervention plans and therapies as well as staggeringly high financial costs with a dearth of funding options.
CONCLUSIONS
We recommend sincere engagement, dialogue, and cooperation between multiple stakeholders; a supportive ecosystem to balance and distribute the demand that includes schools and parents; as well more efficient administrative procedures and recruitment strategies.
Topics: Humans; Child; Qatar; Developmental Disabilities; Disabled Children; Qualitative Research; Male; Female; Parents; Child, Preschool; Early Diagnosis; Neurodevelopmental Disorders
PubMed: 38657277
DOI: 10.1080/17482631.2024.2345816 -
BMC Pediatrics Mar 2022Early support for children with developmental disabilities is crucial but frequently unavailable in low-resource settings. We conducted a mixed-methods evaluation to...
BACKGROUND
Early support for children with developmental disabilities is crucial but frequently unavailable in low-resource settings. We conducted a mixed-methods evaluation to assess the feasibility, acceptability, and impact of a programme of early detection and intervention for young children with developmental disabilities in Western Uganda.
METHODS
Early child development training for healthcare workers (HCWs) was implemented in three rural districts, and attendance was tracked. HCW knowledge and confidence were assessed pre-/post-intervention, and referral numbers tracked to evaluate impact. Facilitators were trained and mentored to deliver a participatory, group, early intervention programme (EIP) for young children with developmental disabilities and their families. Facilitators were tracked as they were identified, trained, and delivered the intervention, and attendance of families was tracked. Pre-/post-intervention assessments evaluated changes in family quality of life (PedsQL 2.0, Family Impact Module), and child nutritional outcomes. Focus group discussions with stakeholders also assessed feasibility, acceptability and impact.
RESULTS
Overall, 93 HCWs from 45 healthcare facilities received training. In the pre-/post-evaluation, median knowledge and confidence scores increased significantly (from 4.0 to 7.0 and from 2.7 to 4.7, respectively (p < 0.001)). HCWs reported feeling empowered to refer and offer care for families with a young child with disability. Referral rates increased significantly from 148 to 251 per annum (70%; p = 0.03). Eleven EIP facilitators were trained, and all delivered the intervention; 84 families were enrolled, of which 78% attended at least 6 out of 10 modules. Amongst those with paired pre-/post-intervention data (n = 48), total family quality of life scores increased significantly (21%, p < 0.001). Improvements were seen across all domains of quality of life, with the largest impacts on emotional functioning and social functioning (p < 0.001). The programme was acceptable to caregivers and facilitators. Caregivers reported improved knowledge, family relationships, hope, emotional wellbeing, and reduced self-stigma.
CONCLUSIONS
A programme of early detection and intervention for children with early developmental disabilities and their families was feasible and acceptable in a rural community-based Ugandan setting. HCW training positively impacted knowledge, confidence, attitudes, and referral rates. Families enrolled to the EIP reported significant improvements in quality of life. Important programmatic barriers identified included geographical spread, poverty, gender inequality, and stigma.
Topics: Caregivers; Child; Child, Preschool; Developmental Disabilities; Family; Humans; Quality of Life; Uganda
PubMed: 35346133
DOI: 10.1186/s12887-022-03184-7 -
Journal of Applied Research in... May 2021Emerging research tests the impact of United States Medicaid home and community-based (HCBS) waiver policy on outcomes for people with intellectual and developmental... (Review)
Review
Emerging research tests the impact of United States Medicaid home and community-based (HCBS) waiver policy on outcomes for people with intellectual and developmental disabilities; however, this body of work has yet to be synthesized. We conducted a scoping review to establish what is known about the impact of Medicaid HCBS policy on the lives of people with intellectual and developmental disabilities. Seven studies met final inclusion criteria. Their findings contribute to preliminary evidence that Medicaid HCBS waivers provide economic benefit at the state and federal level, reduce unmet healthcare needs, increase the likelihood that parents will be able to continue working, and reduce racial disparities in access to care. Additional work should compare HCBS waiver programmes, and their causal pathways, as well as draw international comparisons to similar programming, to determine essential infrastructure needed for a successful HCBS programme.
Topics: Child; Community Health Services; Developmental Disabilities; Home Care Services; Humans; Intellectual Disability; Medicaid; United States
PubMed: 33247520
DOI: 10.1111/jar.12837 -
Clinical Psychology Review Jun 2022Self-injurious behavior (SIB) by individuals with intellectual and developmental disabilities including autism (I/DD) is among the most clinically disturbing, socially... (Review)
Review
Self-injurious behavior (SIB) by individuals with intellectual and developmental disabilities including autism (I/DD) is among the most clinically disturbing, socially costly, and scientifically challenging behavior disorders. Forty years of clinical research has produced a knowledge base supporting idiographic behavioral assessment and treatment approaches. Despite the treatment progress, from a public health and population perspective, we argue it is less clear that we have reduced the disorder's burden. The developmental course of the disorder is mostly unknown and empirically informed population-level models of risk are absent. In this review, we systematically examined the published scientific literature specific to risk for SIB in the I/DD population. We reviewed study methodology in detail intentionally informed by an epidemiological perspective with a set of questions intended to test the quality of the inferences about risk. Results are discussed in terms of conceptual, methodological, and translational issues with respect to what needs to be done to create credible and useful clinical models for SIB risk in the I/DD population.
Topics: Child; Developmental Disabilities; Humans; Self-Injurious Behavior
PubMed: 35580423
DOI: 10.1016/j.cpr.2022.102158 -
Genes Feb 2023GNAO1-related encephalopathies include a broad spectrum of developmental disorders caused by de novo heterozygous mutations in the GNAO1 gene, encoding the G (o) subunit...
BACKGROUND
GNAO1-related encephalopathies include a broad spectrum of developmental disorders caused by de novo heterozygous mutations in the GNAO1 gene, encoding the G (o) subunit α of G-proteins. These conditions are characterized by epilepsy, movement disorders and developmental impairment, in combination or as isolated features.
OBJECTIVE
This study aimed at describing the profile of neurovisual competences in children with GNAO1 deficiency to better characterize the phenotype of the disease spectrum.
METHODS
Four male and three female patients with confirmed genetic diagnosis underwent neurological examination, visual function assessment, and neurovisual and ophthalmological evaluation. Present clinical history of epilepsy and movement disorders, and neuroimaging findings were also evaluated.
RESULTS
The assessment revealed two trends in visual development. Some aspects of visual function, such as discrimination and perception of distance, depth and volume, appeared to be impaired at all ages, with no sign of improvement. Other aspects, reliant on temporal lobe competences (ventral stream) and more related to object-face exploration, recognition and environmental control, appeared to be preserved and improved with age.
SIGNIFICANCE
Visual function is often impaired, with patterns of visual impairment affecting the ventral stream less.
Topics: Female; Humans; Male; Brain Diseases; Developmental Disabilities; Epilepsy; GTP-Binding Protein alpha Subunits, Gi-Go; Heterozygote; Movement Disorders; Phenotype; Visual Perception
PubMed: 36980817
DOI: 10.3390/genes14030544 -
Trends in Genetics : TIG Sep 2019The SRY-related (SOX) transcription factor family pivotally contributes to determining cell fate and identity in many lineages. Since the original discovery that SRY... (Review)
Review
The SRY-related (SOX) transcription factor family pivotally contributes to determining cell fate and identity in many lineages. Since the original discovery that SRY deletions cause sex reversal, mutations in half of the 20 human SOX genes have been associated with rare congenital disorders, henceforward called SOXopathies. Mutations are generally de novo, heterozygous, and inactivating, revealing gene haploinsufficiency, but other types, including duplications, have been reported too. Missense variants primarily target the HMG domain, the SOX hallmark that mediates DNA binding and bending, nuclear trafficking, and protein-protein interactions. We here review key clinical and molecular features of SOXopathies and discuss the prospect that the disease family likely involves more SOX genes and larger clinical and genetic spectrums than currently appreciated.
Topics: Developmental Disabilities; Gene Expression Regulation, Developmental; Haploinsufficiency; Humans; Mutation; SOX Transcription Factors; SOXD Transcription Factors; Sex-Determining Region Y Protein
PubMed: 31288943
DOI: 10.1016/j.tig.2019.06.003 -
Journal of Intellectual & Developmental... 2023Research suggests that women with intellectual and developmental disabilities are at increased risk for adverse pregnancy outcomes. Further, they report unmet perinatal...
BACKGROUND
Research suggests that women with intellectual and developmental disabilities are at increased risk for adverse pregnancy outcomes. Further, they report unmet perinatal care needs. This qualitative study examined clinician perspectives on barriers to providing perinatal care to women with intellectual and developmental disabilities.
METHOD
We conducted semi-structured interviews and one focus group with US obstetric care clinicians (n=17). We used a content analysis approach to code data and analyse them for larger themes and relationships.
RESULTS
The majority of participants were white, non-Hispanic, and female. Participants reported barriers providing care to pregnant women with intellectual and developmental disabilities across individual (e.g., communication challenges), practice (e.g., identification of disability status), and system levels (e.g., lack of clinician training).
CONCLUSIONS
Clinician training and evidence-based guidelines for perinatal care of women with intellectual and developmental disabilities as well as services and supports during pregnancy are needed.
Topics: Child; Infant, Newborn; Humans; Female; Pregnancy; Perinatal Care; Developmental Disabilities; Pregnancy Outcome; Qualitative Research; Focus Groups; Intellectual Disability
PubMed: 36969147
DOI: 10.3109/13668250.2022.2086110