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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 -
American Journal of Medical Genetics.... Nov 2013Numerous parallelisms exist between development and cancer. In this article, I review some of the founding ideas linking development and cancer, and highlight clinical... (Review)
Review
Numerous parallelisms exist between development and cancer. In this article, I review some of the founding ideas linking development and cancer, and highlight clinical conditions exhibiting features of both developmental derangement and cancer predisposition, including cohesinopathies, rasopathies, phakomatoses, Proteus syndrome and other overgrowth disorders, recessive chromosome breakage syndromes, and dominant hereditary cancer syndromes. I suggest that these disorders encompass a continuous spectrum spanning clinical genetics and clinical oncology, and derive some general implications that might be useful in the future for the treatment of these diseases.
Topics: Developmental Disabilities; Epigenesis, Genetic; Genetic Predisposition to Disease; Humans; Neoplasms; Phenotype
PubMed: 24123833
DOI: 10.1002/ajmg.a.36267 -
Cortex; a Journal Devoted To the Study... Dec 1988We conducted a neurobehavioral evaluation on eleven children with developmental dyscalculia in order to determine which aspects of arithmetic processes are affected in...
We conducted a neurobehavioral evaluation on eleven children with developmental dyscalculia in order to determine which aspects of arithmetic processes are affected in this disorder. Our results indicate that memorization of numerical facts in these children was poor or virtually non-existent and the ability to solve simple arithmetic exercises impaired. By contrast, comprehension and production of number functions were intact. Although all children had been referred for evaluation of selective deficits in arithmetic skills, they also displayed a mild degree of dyslexia, dysgraphia, anomia, and grapho-motor dysfunction. We conclude that cognitive mechanisms underlying arithmetic ability can be dissociated developmentally and suggest that remediation programs be designed only after detailed analyses of arithmetic and associated cognitive skills.
Topics: Adolescent; Child; Cognition Disorders; Developmental Disabilities; Female; Humans; Language Disorders; Male; Mathematics; Neuropsychological Tests
PubMed: 2464456
DOI: 10.1016/s0010-9452(88)80049-2 -
Developmental Medicine and Child... Jul 2022
Topics: Child; Developmental Disabilities; Humans; Intellectual Disability; Language
PubMed: 35642089
DOI: 10.1111/dmcn.15231 -
Seminars in Fetal & Neonatal Medicine Feb 2015Bilirubin-induced neurologic dysfunction (BIND) is the constellation of neurologic sequelae following milder degrees of neonatal hyperbilirubinemia than are associated... (Review)
Review
Bilirubin-induced neurologic dysfunction (BIND) is the constellation of neurologic sequelae following milder degrees of neonatal hyperbilirubinemia than are associated with kernicterus. Clinically, BIND may manifest after the neonatal period as developmental delay, cognitive impairment, disordered executive function, and behavioral and psychiatric disorders. However, there is controversy regarding the relative contribution of neonatal hyperbilirubinemia versus other risk factors to the development of later neurodevelopmental disorders in children with BIND. In this review, we focus on the empiric data from the past 25 years regarding neurodevelopmental outcomes and BIND, including specific effects on developmental delay, cognition, speech and language development, executive function, and the neurobehavioral disorders, such as attention deficit/hyperactivity disorder and autism.
Topics: Bilirubin; Developmental Disabilities; Humans; Hyperbilirubinemia, Neonatal; Infant, Newborn; Risk Factors
PubMed: 25585889
DOI: 10.1016/j.siny.2014.12.003 -
CNS Neuroscience & Therapeutics Nov 2016
Topics: Developmental Disabilities; Diagnostic Errors; Humans; Sleep
PubMed: 27779373
DOI: 10.1111/cns.12657 -
Jornal de Pediatria 2011To review literature published in the last 5 years on the effects of premature birth on the development and quality of life of preschool- and school-age children. (Review)
Review
OBJECTIVE
To review literature published in the last 5 years on the effects of premature birth on the development and quality of life of preschool- and school-age children.
SOURCES
Systematic review of empirical studies published in the last 5 years and indexed on PubMed, MEDLINE, LILACS, SciELO and PsycINFO. Keywords were chosen that relate prematurity to developmental and quality of life outcomes.
SUMMARY OF THE FINDINGS
In the studies chosen, four global indicators of development were identified (neurological, neurodevelopment, executive functions and quality of life), in addition to seven specific indicators of development (cognition, motor function, behavior, language, academic performance, attention and memory). The most prevalent indicators were cognition and motor function. Premature children had worse performance in all developmental indicators than children born full term. Additionally, the younger the gestational age, the worse the performance in developmental indicator assessments. The studies identified both risk factors (lower birth weight, intraventricular hemorrhage and low maternal educational level) and protective factors (larger head circumference, breastfeeding and higher family income) for development of children born preterm.
CONCLUSION
Children born extremely premature (≤ 30 weeks' gestational age) are vulnerable to developmental and quality of life problems.
Topics: Child; Child, Preschool; Developmental Disabilities; Gestational Age; Humans; Infant, Newborn; Infant, Premature; Quality of Life; Risk Factors
PubMed: 21743941
DOI: 10.2223/JPED.2096 -
International Journal of Environmental... Mar 2022The COVID-19 pandemic has resulted in substantial service disruption and transition from in-person services to telehealth for children with developmental disabilities....
The COVID-19 pandemic has resulted in substantial service disruption and transition from in-person services to telehealth for children with developmental disabilities. However, there is limited knowledge about the specific dimensions and consequences of the disruption and transition. This study aims to examine the extent of service disruption and transition, the experiences of client children and their caregivers with telehealth vis-à-vis in-person services, and the impacts of the disruption and transition on child wellbeing. The cross-sectional study collected data from parents of children with developmental disabilities using an online survey. McNemar's tests were used to compare service changes before and after the pandemic outbreak, and multivariate analyses were used to examine how service changes were associated with child wellbeing. Results show that more than two-thirds of the children experienced reduction in service amount, and one-third lost services for more than two months in about five months into the pandemic. While telehealth had comparable features relative to in-person services, it had lower ratings with respect to diagnostic accuracy, treatment effectiveness, and rapport building. Service disruption/transition and social isolation were associated with behavioral and emotional deterioration in children. However, child and family stress may have confounded these adverse effects. We concluded that the magnitude of service disruption and transition was large in the first half year after the pandemic outbreak, and the amount and duration of service loss varied substantially across clients. Diagnostic accuracy, treatment efficacy, and rapport building were areas in which parents had major concerns toward telehealth relative to in-person services. However, such drawbacks may partially be due to the limited logistics in telehealth implementation during the pandemic. Service disruption and transition seemed to contribute to family stress, which played a direct role in eroding child wellbeing. Implications of these findings for future research and practices are discussed.
Topics: COVID-19; Child; Child Health; Cross-Sectional Studies; Developmental Disabilities; Humans; Pandemics; Telemedicine
PubMed: 35328947
DOI: 10.3390/ijerph19063259 -
Social Science & Medicine (1982) Jan 2022There is increasing interest in the role of contextual factors in promoting well-being among parents of children with developmental disabilities. This study aimed to...
OBJECTIVE
There is increasing interest in the role of contextual factors in promoting well-being among parents of children with developmental disabilities. This study aimed to examine whether social network types moderate the impacts of having a child with a developmental disability on parents' health.
METHODS
Using cross-sectional data from the Midlife in the United States survey (MIDUS 2 and Refresher cohorts), we analyzed a sample of 363 parents of children with developmental disabilities and 4,919 parents of children without developmental disabilities. K-means cluster analysis was implemented to identify a social network typology. Modified Poisson and negative binomial regression models estimated the effect of having a child with a developmental disability and the typology on parents' physical health (self-rated health, number of chronic conditions) and mental health (self-rated mental health, major depression).
RESULTS
The cluster analysis revealed two social network types. Parents of children with developmental disabilities were more likely to have "restricted/unsupported" networks, whereas parents in the comparison group were more likely to have "diverse/supported" networks. Social support was more important for differentiating the network types of parents of children with developmental disabilities, while social integration was more salient for the comparison group. Parents of children with developmental disabilities fared worse on all outcomes relative to parents of children without disabilities. However, the typology had a compensatory psychological effect; the diverse/supported network type conferred greater mental health benefits to parents of children with developmental disabilities than to those in the comparison group. The diverse/supported network type was also associated with better physical health, but the associations did not differ between the two parent groups.
CONCLUSIONS
The results of this study emphasize the importance of social determinants of well-being for those with exceptional parenting responsibilities. Strengthening social networks may have a particularly positive impact on such parents' mental health.
Topics: Adult; Child; Cross-Sectional Studies; Developmental Disabilities; Humans; Parenting; Parents; Social Networking; United States
PubMed: 34891030
DOI: 10.1016/j.socscimed.2021.114623 -
Genetics in Medicine : Official Journal... Mar 2021Genetic testing is routine practice for individuals with unexplained developmental disabilities and multiple congenital anomalies. However, current testing pathways can...
PURPOSE
Genetic testing is routine practice for individuals with unexplained developmental disabilities and multiple congenital anomalies. However, current testing pathways can be costly and time consuming, and the diagnostic yield low. Genome-wide sequencing, including exome sequencing (ES) and genome sequencing (GS), can improve diagnosis, but at a higher cost. This study aimed to assess the cost-effectiveness of genome-wide sequencing in Ontario, Canada.
METHODS
A cost-effectiveness analysis was conducted using a discrete event simulation from a public payer perspective. Six strategies involving ES or GS were compared. Outcomes reported were direct medical costs, number of molecular diagnoses, number of positive findings, and number of active treatment changes.
RESULTS
If ES was used as a second-tier test (after the current first-tier, chromosomal microarray, fails to provide a diagnosis), it would be less costly and more effective than standard testing (CAN$6357 [95% CI: 6179-6520] vs. CAN$8783 per patient [95% CI: 2309-31,123]). If ES was used after standard testing, it would cost an additional CAN$15,228 to identify the genetic diagnosis for one additional patient compared with standard testing. The results remained robust when parameters and assumptions were varied.
CONCLUSION
ES would likely be cost-saving if used earlier in the diagnostic pathway.
Topics: Abnormalities, Multiple; Child; Cost-Benefit Analysis; Developmental Disabilities; Humans; Ontario; Exome Sequencing
PubMed: 33110268
DOI: 10.1038/s41436-020-01012-w