An Analysis of Specific Categories of Birth Defects and Developmental Disabilities for Children of Participants of the Air Force Health Study

Background: The Air Force Health Study collected reproductive outcomes for live-born children of male Air Force veterans of the Vietnam War. Methods: Dioxin values for participants were obtained from blood samples. Analyses were conducted of occurrence of 16 specific categories of birth defects and developmental disabilities. Children were categorized as conceived before and after the start of participants’ Vietnam War service. Children conceived before the start of Vietnam War service were treated as being conceived when their fathers had unquantifiable dioxin values. Children conceived after the start of Vietnam War service for participants with missing dioxin values were excluded from primary analyses, but were used to assess the impact of their exclusion on conclusions. Correlation between values for specific categories for multiple children fathered by the same participant was accounted for. The dose-response relationship was treated as a step function increasing for dioxin values larger than adaptively identified individual thresholds changing with the specific category. Results: For 15 of 16 specific categories, the probability of occurrence increased substantially for a sufficiently high dioxin level above identified thresholds. Exclusion of children due to missing dioxin likely did not affect these results. Conclusions: Results supported the conclusion of substantial adverse effects on a wide variety of specific categories of birth defects and developmental disabilities due to sufficiently high exposures to dioxin, a toxic contaminant of Agent Orange used for herbicide spraying in the Vietnam War. Results may hold more generally, but might also have been affected by a variety of limitations.

Family empowerment and quality of life of parents raising children with Developmental Disabilities in 78 Japanese families

Objectives: The families of these children experience distress both at the time of diagnosis and afterward.A top priority is to understand family empowerment,family function,and family members' quality of life (QoL) and to effectively support these families in Japan.The objective of this study was to assess the actual conditions of families living with children having DDs and to explore the factors associated with family empowerment and parents' QoL.Methods: We surveyed ninety-three parents (78 mothers,15 fathers) from 78 families which lived with children with DDs in the capital region of Japan.We assessed two main outcomes using the Japanese versions of the following instruments: Family Empowerment Scale (FES),World Health Organization Quality of Life 26 (WHOQOL26),and other six outcomes.Correlation and multiple regression analyses were conducted.Results: No medication,cooperation with child rearing,assistance from a developmental support center,solved problems related to child rearing,and higher scores in Problem Solving contributed to higher FES scores.Higher WHOQOL26 scores were related to being a full-time housewife,higher self-esteem,no developmental support,a broad emotional support network,higher scores in Problem Solving and Role Function,and lower scores in Affective Reaction and General Function.Conclusions: We revealed that family empowerment and QoL of parents rearing children with DDs in Japan were affected by various subscales of family function and other family attributes.Effective interventions for improving family empowerment and QoL should be researched in the future.

Utilizing the China Health and Retirement Longitudinal Study (CHARLS) to Understand the Aging of People Living in the Community with Intellectual and Developmental Disabilities

There remain challenges in understanding the aging lives of people with intellectual and developmental disabilities. Method: A cross-sectional comparison of people with and without I/DD was created using China Health and Retirement Longitudinal Study (CHARLS). A definition of I/DD was established, three samples were created: those with an assigned/described intellectual and developmental disability prior to age 22 years;those with similar impairments at and after age 22 years;and those in the population without an assigned/described impairment. Findings: Those with I/DD appeared to have greater health needs on initial analysis. People with an impairment similar to I/DD but occurring after age 22 years had the same or greater needs in subsequent analyses. Both groups had greater needs than those with no identified disability. Discussion: There must be greater efforts to discover those with I/DD who are already in existing datasets, greater attention to the full range of lives led by people with I/DD and inclusion of data from a broader range of countries.

Relationship between parent perception of child anthropometric phenotype and body mass index change among children with developmental disabilities

Background Preschool-age children with developmental disabilities(DD)have higher prevalence of obesity than children without DD.This study aimed to explore the relationship between parent perception of their children's anthropometric phe-notype and child body mass index(BMI)z score change over one school year among preschoolers with DD.Methods The analysis consisted of a subsample(N=64)of children with DD from a larger randomized controlled trial to test an obesity prevention program in the childcare center setting.Parents ranks their child's anthropometric phenotype on a visual silhouette chart on a scale from 1(underweight)to 7(obese)and that rank score is compared to their BMI z score change over one school year.Results The majority(75%)of parents with an obese child underestimated their child's anthropometric phenotype while 7%parents with a non-obese child overestimated.Parent overestimation of child anthropometric phenotype status is associated with increased BMI z score change over 1 school year among preschool-age children with disabilities.Conclusion Parental overestimation of child anthropometric phenotype status was associated with weight gain in preschool children with DD after one school year.

Clinical and genetic characteristics of a child with Sotos syndrome and attention-deficit/hyperactivity disorder:A case report

BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.CASE SUMMARY The patient presented with accelerated growth and advanced skeletal maturation;however,she lacked any distinct facial characteristics related to specific genetic disorders.Genetic analyses revealed a paternally inherited heterozygous synonymous mutation[c.4605C>T(p.Arg1535Arg)].Functional analyses suggested that this mutation may disrupt splicing,and bioinformatics analyses predicted that this mutation was likely pathogenic.After an initial diagnosis of Sotos syndrome,the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.CONCLUSION The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.

Comparison of Developmental Stages in Relation to Way Finding Behavior in an Immersive Virtual Reality Space

To establish a proper evaluation method for spatial cognitive deficits and a form of developmental disorder, we have used an immersive virtual reality (VR) device to develop a game that involves actually walking through a VR space to search for a target object. In this paper, we presented the results of control experiment with 22 healthy elementary school students as participants. The complexity of the VR space was controlled according to the number of pillars present and whether an overall view was possible (controlled by the height of the pillars). For each set of conditions, 24 trials were performed, and the route and time taken to search for the target were recorded. The starting point was changed in each subsequent trial. Results showed that the search time decreased as the number of trials increase, suggesting a process whereby a cognitive map was formed. We also compared the present results to results from our previous experiment with university students using the same experimental conditions, and we discussed the influence of developmental stage on spatial cognition.

The Effects of Therapeutic Horseback Riding Program on Motor Skills inChildren with Autism Spectrum Disorder

Therapeutic horseback riding(THR)as an animal-assisted intervention is one of the innovative approaches emer-ging in the treatment for children with autism spectrum disorder(ASD).The current study was designed to inves-tigate the effects of a 12-week,twice a week THR program on motor skills in sixty-eight children with ASD aged 5–10 years old.All participants selected met the DSM-V criteria for ASD,and a total offifty-three participants completed the study.A randomized controlled trial design was utilized for the study.Data was collected via a pre-THR test,interim-THR test,and post-THR test to investigate the possible changes in motor skills throughout the 12-week THR program.Results showed that the THR program significantly improved overall motor skills across time points(p<0.05)and sub-skills of run,gallop and two-hand catch(as compared to the control group,p<0.05).In conclusion,the THR program may be an effective option for improving motor skills in children with ASD and further investigation with a longer period of intervention is warranted.

Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy

Importance:CHD2 is a member of the chromodomain helicase DNA-binding(CHD)family of proteins,which have important roles in the regulation of gene expression.Dysregulation of this protein may lead to various disorders.Objective:To delineate the genotypes and phenotypes of CHD2-related epilepsy.Methods:We analyzed the medical history,magnetic resonance imaging findings,and video-electroencephalogram recordings of 17 patients withCHD2 mutations in the Neurology Department of Beijing Children’s Hospital from June 2016 to June 2021.Results:Age at seizure onset ranged from 6 months to 10 years;the median age at onset was 4 years.Generalized tonic-clonic,myoclonic,eyelid myoclonic,atonic,atypical absence,myoclonic-atonic,and spasm seizures were observed.Ten of the 17 patients had multiple types of seizures.One patient exhibited photosensitivity epilepsy and one patient exhibited grid image-induced visual reflex epilepsy.Developmental disability was present in 14 patients,while autism features were present in five patients.Sixteen patients hadde novo mutations ofCHD2;one patient had an inherited variant.Eleven mutations were novel.One patient had two mutations;that patient exhibited development delay and refractory epilepsy.Seizures were controlled in eight patients,improved in seven patients,and resistant to treatment in two patients.Interpretation:Phenotype severity in patients withCHD2 variants ranged from drug-responsive seizures to severe epileptic encephalopathy.Most patients exhibited developmental disorders.

A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development

The V-MYC avian myelocytomatosis viral-related onco- gene, a neuroblastoma-derived gene （MYCN, MIM： 164840） located on chromosome 2p24, was previously found to be associated with Feingold syndrome 1 （FGLDS1, MIM： 164280） [1]. FGLDS1 is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disabilities. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients [2]. Despite the involvement of intellectual disability in FGLDS1, the molecular mechanisms of the MYCN gene in regulating brain development remain largely unclear.Some truncated mutations in the N terminus of the MYCN have been identified in FGLDS1 [1, 3].