-
Frontiers in Public Health 2022The association between acrylamide exposure and the odds of developmental disabilities (DDs) is unclear. We conducted this analysis to explore whether acrylamide...
BACKGROUND
The association between acrylamide exposure and the odds of developmental disabilities (DDs) is unclear. We conducted this analysis to explore whether acrylamide exposure is related to DDs.
METHODS
We analyzed a sample of 1,140 children aged 6-17 years old from the US National Health and Nutrition Examination Survey 2013-2014 to 2015-2016. DDs were determined by reports of parents. Acrylamide exposure was evaluated by the hemoglobin adducts of acrylamide (HbAA) and its major metabolite glycidamide (HbGA). We investigated the association using binomial logistic regression analysis by taking HbAA and HbGA as continuous or quartile variables. Restricted cubic splines (RCS) were used to explore the non-linear relationship between HbAA or HbGA and the odds of DDs. Interaction analysis and propensity score matching (PSM) were used to validate the results.
RESULTS
A total of 134 participants were reported to have DDs. The median level of HbAA and HbGA was 41.6 and 40.5 pmol/g Hb, respectively. HbAA and HbGA were not associated with the odds of DDs when taken as continuous variables. When divided into quartiles, there was no evidence for a linear trend for HbAA and HbGA. RCS showed that there was a J-shaped association between HbGA and the odds of DDs ( for non-linearity, 0.023). The results were consistent in interaction analysis by age, gender, and race, and after PSM.
CONCLUSION
HbGA level was associated with the odds of DDs in a J-shaped manner among children. Further investigation is warranted to determine the causality and underlying mechanisms.
Topics: Acrylamide; Adolescent; Child; Cross-Sectional Studies; Developmental Disabilities; Hemoglobins; Humans; Nutrition Surveys
PubMed: 36249258
DOI: 10.3389/fpubh.2022.972368 -
Molecular Genetics & Genomic Medicine Mar 2021Recent studies suggest that duplication of the 9p24.3 chromosomal locus, which includes the DOCK8 and KANK1 genes, is associated with autism spectrum disorders (ASD),...
BACKGROUND
Recent studies suggest that duplication of the 9p24.3 chromosomal locus, which includes the DOCK8 and KANK1 genes, is associated with autism spectrum disorders (ASD), intellectual disability/developmental delay (ID/DD), learning problems, language disorders, hyperactivity, and epilepsy. Correlation between this duplication and the carrier phenotype needs further discussion.
METHODS
In this study, three unrelated patients with ID/DD and ASD underwent SNP aCGH and MLPA testing. Similarities in the phenotypes of patients with 9p24.3, 15q11.2, and 16p11.2 duplications were also observed.
RESULTS
All patients with ID/DD and ASD carried the 9p24.3 duplication and showed intragenic duplication of DOCK8. Additionally, two patients had ADHD, one was hearing impaired and obese, and one had macrocephaly. Inheritance of the 9p24.3 duplication was confirmed in one patient and his sibling. In one patient KANK1 was duplicated along with DOCK8. Carriers of 9p24.3, 15q11.2, and 16p11.2 duplications showed several phenotypic similarities, with ID/DD more strongly associated with duplication of 9p24.3 than of 15q11.2 and 16p11.2.
CONCLUSION
We concluded that 9p24.3 is a likely cause of ASD and ID/DD, especially in cases of DOCK8 intragenic duplication. DOCK8 is a likely causative gene, and KANK1 aberrations a modulator, of the clinical phenotype observed. Other modulators were not excluded.
Topics: Adaptor Proteins, Signal Transducing; Child; Child, Preschool; Chromosome Disorders; Chromosome Duplication; Chromosomes, Human, Pair 9; Cytoskeletal Proteins; Developmental Disabilities; Female; Guanine Nucleotide Exchange Factors; Humans; Male; Phenotype
PubMed: 33455084
DOI: 10.1002/mgg3.1592 -
Developmental Medicine and Child... Feb 2021Prenatal infections have long been recognized as important, preventable causes of developmental disabilities. The list of pathogens that are recognized to have... (Review)
Review
Prenatal infections have long been recognized as important, preventable causes of developmental disabilities. The list of pathogens that are recognized to have deleterious effects on fetal brain development continues to grow, most recently with the association between Zika virus (ZIKV) and microcephaly. To answer clinical questions in real time about the impact of a novel infection on developmental disabilities, an historical framework is key. The lessons learned from three historically important pathogens: rubella, cytomegalovirus, and ZIKV, and how these lessons are useful to approach emerging congenital infections are discussed in this review. Congenital infections are preventable causes of developmental disabilities and several public health approaches may be used to prevent prenatal infection. When they cannot be prevented, the sequelae of prenatal infection may be treatable. WHAT THIS PAPER ADDS: The list of prenatal infections associated with developmental disabilities continues to increase. Lessons learned from rubella, cytomegalovirus, and Zika virus have implications for new pathogens. Severity of illness in the mother does not correlate with severity of sequelae in the infant.
Topics: Cytomegalovirus Infections; Developmental Disabilities; Female; Fetal Diseases; History, 20th Century; History, 21st Century; Humans; Infant, Newborn; Pregnancy; Pregnancy Complications, Infectious; Rubella; Zika Virus Infection
PubMed: 33084055
DOI: 10.1111/dmcn.14682 -
International Journal of Environmental... Jul 2022The assessment of challenging behavior exhibited by people with intellectual and developmental disabilities is essential for the planning of prevention and intervention... (Review)
Review
The assessment of challenging behavior exhibited by people with intellectual and developmental disabilities is essential for the planning of prevention and intervention programs. This review aimed to identify and analyze the standardized instruments that exclusively focus on the assessment of challenging behavior. We identified and organized 141 articles into four categories: original instrument studies, validation studies, relational studies, and intervention studies. The results identified 24 instruments that generally show high-quality psychometric properties and other utilities beyond the observation of the presence of challenging behavior and diagnostic categorization. Age, level of adaptive behavior, disability, presence of autism spectrum disorder, and medication are some of the variables that were found to be possibly related to the occurrence of challenging behavior. Additionally, the results suggest that interventions focused on supporting positive behavior or providing training on behavior to professionals and caregivers significantly reduced the occurrence of these behaviors. Instruments that help us to understand and measure the challenging behavior exhibited by people with intellectual and developmental disabilities are essential for the design of effective evaluation and intervention protocols.
Topics: Autism Spectrum Disorder; Child; Developmental Disabilities; Disabled Persons; Humans; Intellectual Disability; Psychometrics
PubMed: 35886552
DOI: 10.3390/ijerph19148701 -
American Journal of Preventive Medicine Sep 2020Postpartum health care among women with intellectual and developmental disabilities has not been well studied. This study uses administrative claims to compare...
INTRODUCTION
Postpartum health care among women with intellectual and developmental disabilities has not been well studied. This study uses administrative claims to compare postpartum outpatient visits among women with and without intellectual and developmental disabilities.
METHODS
Massachusetts All Payers Claims Database 2012-2015 was used to identify women with intellectual and developmental disabilities and a live birth during 2012-2014, matched by infant birth year to 3 women without intellectual and developmental disabilities. Women were followed up for 1 year after delivery. Analyses were conducted in 2019. Poisson regression compared guideline-concordant postpartum and other outpatient visits during the early (21-56 days after delivery) and late (57-365 days after delivery) periods. Types of nonpostpartum care visits were examined.
RESULTS
Overall, 962 and 2,886 women with and without intellectual and developmental disabilities, respectively, comprised the sample. Among women with intellectual and developmental disabilities, 23.9% had a postpartum visit in the early and 33.3% in the late postpartum periods, compared with 25.2% and 32.1% of women without intellectual and developmental disabilities who had visits in the early and late postpartum periods, respectively (p=0.49, 0.59). Women with intellectual and developmental disabilities were more likely to have other outpatient visits than those without intellectual and developmental disabilities, both in the early (63.1% vs 40.3%, adjusted RR=1.42, 95% CI=1.28, 1.58, p<0.001) and late (94.2% vs 82.3%, RR=1.11, 95% CI=1.08, 1.14, p=0.008) postpartum periods. Ancillary services, home health services, and alcohol/drug-related visits were much more common among women with intellectual and developmental disabilities.
CONCLUSIONS
Women with intellectual and developmental disabilities are equally likely to receive guideline-concordant postpartum visits and more likely to have other outpatient visits than other women. Further research is needed to evaluate visit quality and identify best practices to support mothers with intellectual and developmental disabilities during the postpartum period.
Topics: Child; Delivery of Health Care; Developmental Disabilities; Female; Humans; Massachusetts; Postpartum Period; Pregnancy; Pregnancy Complications
PubMed: 32605865
DOI: 10.1016/j.amepre.2020.03.011 -
American Journal of Human Genetics May 2023SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to...
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of this proto-oncogene in mice is embryonically lethal. Through international data sharing, we identified 17 individuals (10 females and 7 males) with a neurodevelopmental disorder (NDD) with heterozygous germline SRSF1 variants, mostly de novo, including three frameshift variants, three nonsense variants, seven missense variants, and two microdeletions within region 17q22 encompassing SRSF1. Only in one family, the de novo origin could not be established. All individuals featured a recurrent phenotype including developmental delay and intellectual disability (DD/ID), hypotonia, neurobehavioral problems, with variable skeletal (66.7%) and cardiac (46%) anomalies. To investigate the functional consequences of SRSF1 variants, we performed in silico structural modeling, developed an in vivo splicing assay in Drosophila, and carried out episignature analysis in blood-derived DNA from affected individuals. We found that all loss-of-function and 5 out of 7 missense variants were pathogenic, leading to a loss of SRSF1 splicing activity in Drosophila, correlating with a detectable and specific DNA methylation episignature. In addition, our orthogonal in silico, in vivo, and epigenetics analyses enabled the separation of clearly pathogenic missense variants from those with uncertain significance. Overall, these results indicated that haploinsufficiency of SRSF1 is responsible for a syndromic NDD with ID due to a partial loss of SRSF1-mediated splicing activity.
Topics: Child; Female; Male; Developmental Disabilities; Haploinsufficiency; Intellectual Disability; Mutation, Missense; Neurodevelopmental Disorders; Phenotype; Humans
PubMed: 37071997
DOI: 10.1016/j.ajhg.2023.03.016 -
Nutrients Apr 2023We tested the hypothesis that vitamin D deficiency (VDD) is associated with higher developmental disorder probability in 604 children with perinatal HIV infection...
We tested the hypothesis that vitamin D deficiency (VDD) is associated with higher developmental disorder probability in 604 children with perinatal HIV infection (CPHIV, = 199), HIV exposed and uninfected (CHEU, = 196), and HIV unexposed uninfected (CHUU, = 201). Children at 6-18 years old and their adult caregivers were assessed at enrollment, 6, and 12-month follow-ups. Serum 25-hydroxyvitamin-D (25OHD) levels in children quantified per the NHANES protocol were used to define VD categories as VDD (25OHD < 20 ng/mL), VD insufficient (VDI, 20 ≤ 25OHD ≤ 25 ng/mL), and VD sufficient (VDS = reference group if 25OHD > 25 ng/mL). Perinatal HIV status per DNA polymerase chain reaction/HIV rapid diagnostic tests included: CPHIV, CHEU, and CHUU. Developmental stage was defined as pre-adolescent (age < 11) vs. adolescent (age ≥ 11) years. Caregiver responses to standardized questions from Behavioral Assessment System for Children, Third Edition (BASC-3), were used to calculate probability scores for four disorders, namely: autism (ASD), attention deficit & hyperactivity (ADHD), emotional behavioral disorder (EBD), functional impairment (FI), and resiliency at 0, 6 and 12 months. Multivariable longitudinal models estimated VD-associated standardized mean difference (SMD) and corresponding 95% confidence intervals (95% CI) in respective probability scores in Statistical Analysis Software (v.9.4). Baseline VDD vs. VDS predicted higher probability scores of moderate clinical importance for ASD, ADHD, EBD, and higher FI among pre-adolescents (SMD = 0.32 to 0.40, 95% CI: 0.00 to 0.74). VDD was not associated with resiliency or any developmental disorders among adolescents. VDD predicted higher developmental disorder and FI scores over 12 months in a developmental stage-dependent manner. This relationship requires further understanding to appropriately target future interventions.
Topics: Adolescent; Adult; Female; Pregnancy; Child; Humans; Developmental Disabilities; HIV Infections; Nutrition Surveys; Uganda; Vitamin D; Vitamins; Vitamin D Deficiency
PubMed: 37432158
DOI: 10.3390/nu15092020 -
International Journal of Environmental... Sep 2020Little is known about parenting in the context of developmental disabilities in low- and middle-income countries (LMIC), penalized by both lack of data and a research...
Little is known about parenting in the context of developmental disabilities in low- and middle-income countries (LMIC), penalized by both lack of data and a research bias toward western societies. In this study, we apply data mining methods on a large (N = 25,048) dataset from UNICEF to highlight patterns of association between developmental disabilities of children and parental involvement. We focus on the co-presence of multiple disabilities and the quality of childcare in three parenting domains: discipline, caregiving, and education. Our results show that, in LMIC, children with more severe developmental conditions are also more likely to receive low-quality parental care. Specific policies of parental training are needed to improve parental practices in LMIC.
Topics: Child; Child Abuse; Developing Countries; Developmental Disabilities; Humans; Income; Parenting; Physical Abuse; Poverty
PubMed: 32992729
DOI: 10.3390/ijerph17197009 -
American Journal of Preventive Medicine Dec 2021Despite increased attention on severe maternal morbidity and maternal mortality, scant research exists on adverse maternal outcomes in women with disabilities. This...
INTRODUCTION
Despite increased attention on severe maternal morbidity and maternal mortality, scant research exists on adverse maternal outcomes in women with disabilities. This study compares the rates of severe maternal morbidity and maternal mortality in women with and without intellectual and developmental disabilities.
METHODS
This study used 2004-2017 Healthcare Cost and Utilization Project Nationwide Inpatient Sample data. Analyses were conducted in 2019‒2020. The risk of severe maternal morbidity with and without blood transfusion and maternal mortality during delivery among women with and without intellectual and developmental disabilities were compared using modified Poisson regression analysis.
RESULTS
This study identified 32,324 deliveries to women with intellectual and developmental disabilities. Per 10,000 deliveries, 566 deliveries with severe maternal morbidity occurred in women with intellectual and developmental disabilities compared with 239 in women without intellectual and developmental disabilities. Women with intellectual and developmental disabilities had greater risk of both severe maternal morbidity (risk ratio=2.36, 95% CI=2.06, 2.69) and nontransfusion severe maternal morbidity (risk ratio=2.95, 95% CI=2.42, 3.61) in unadjusted analyses, which was mitigated in adjusted analyses for sociodemographic characteristics (risk ratio=1.74, 95% CI=1.47, 2.06; risk ratio=1.85, 95% CI=1.42, 2.41) and the expanded obstetric comorbidity index (risk ratio=1.23, 95% CI=1.04, 1.44; risk ratio=1.31, 95% CI=1.02, 1.68). The unadjusted incidence of maternal mortality in women with intellectual and developmental disabilities was 284 per 100,000 deliveries, nearly 4-fold higher than in women without intellectual and developmental disabilities (69 per 100,000 deliveries; risk ratio=4.07, 95% CI=2.04, 8.12), and the risk remained almost 3-fold higher after adjustment for sociodemographic characteristics (risk ratio=2.86, 95% CI=1.30, 6.29) and the expanded obstetric comorbidity index (risk ratio=2.30, 95% CI=1.05, 5.29).
CONCLUSIONS
Women with intellectual and developmental disabilities are at increased risk of severe maternal morbidity and maternal mortality. These findings underscore the need for enhanced monitoring of the needs and maternal outcomes of women with intellectual and developmental disabilities in efforts to improve maternal health.
Topics: Child; Developmental Disabilities; Disabled Persons; Female; Humans; Incidence; Maternal Mortality; Odds Ratio; Pregnancy; Pregnancy Complications
PubMed: 34579985
DOI: 10.1016/j.amepre.2021.05.041 -
Journal of Neurodevelopmental Disorders Sep 2021Transmission of SARS-CoV-2 in schools primarily for typically developing children is rare. However, less is known about transmission in schools for children with...
BACKGROUND
Transmission of SARS-CoV-2 in schools primarily for typically developing children is rare. However, less is known about transmission in schools for children with intellectual and developmental disabilities (IDD), who are often unable to mask or maintain social distancing. The objectives of this study were to determine SARS-CoV-2 positivity and in-school transmission rates using weekly screening tests for school staff and students and describe the concurrent deployment of mitigation strategies in six schools for children with IDD.
METHODS
From November 23, 2020, to May, 28, 2021, weekly voluntary screening for SARS-CoV-2 with a high sensitivity molecular-based saliva test was offered to school staff and students. Weekly positivity rates were determined and compared to local healthcare system and undergraduate student screening data. School-based transmission was assessed among participants quarantined for in-school exposure. School administrators completed a standardized survey to assess school mitigation strategies.
RESULTS
A total of 59 students and 416 staff participated. An average of 304 school staff and students were tested per week. Of 7289 tests performed, 21 (0.29%) new SARS-CoV-2 positive cases were identified. The highest weekly positivity rate was 1.2% (n = 4) across all schools, which was less than community positivity rates. Two cases of in-school transmission were identified, each among staff, representing 2% (2/103) of participants quarantined for in-school exposure. Mitigation strategies included higher than expected student mask compliance, reduced room capacity, and phased reopening.
CONCLUSIONS
During 24 weeks that included the peak of the COVID-19 pandemic in winter 2020-21, we found lower rates of SARS-CoV-2 screening test positivity among staff and students of six schools for children with IDD compared to community rates. In-school transmission of SARS-CoV-2 was low among those quarantined for in-school exposure. However, the impact of the emerging SARS-CoV-2 Delta variant on the effectiveness of these proven mitigation strategies remains unknown.
TRIAL REGISTRATION
Prior to enrollment, this study was registered at ClinicalTrials.gov on September 25, 2020, identifier NCT04565509 , titled Supporting the Health and Well-being of Children with Intellectual and Developmental Disability During COVID-19 Pandemic.
Topics: COVID-19; Child; Developmental Disabilities; Humans; Pandemics; SARS-CoV-2; Schools
PubMed: 34465306
DOI: 10.1186/s11689-021-09376-z