Down Syndrome Family Research Articles

Comparing research attitudes in Down syndrome and non-Down syndrome research decision-makers.

Recruitment challenges in people with and without Down syndrome (DS) can delay research progress and risk sample bias. This study identified and quantified differences in research attitudes across populations of research enrollment decision-makers for individuals with and without DS. We performed analyses using data from two registries: the University of California, Irvine Consent-to-Contact (C2C) Registry and DS-Connect. The former represented a sample of non-DS decision-makers (N = 4818), while for the latter, we excluded individuals with DS, leaving a population of DS family decision-makers (N = 976). We assessed scores on the Research Attitudes Questionnaire (RAQ) between DS and non-DS decision-makers. We compared total RAQ scores using linear regression and assessed item-level RAQ differences using proportional odds regression. Mean total RAQ scores were not statistically different between decision-makers in the two registries, after adjusting for age, sex, race and ethnicity, education, and the coronavirus disease 2019 (COVID-19) time frame (Est. Diff = 0.11, 95% confidence interval [CI]: -0.22, 0.43; p = 0.531). However, in a pre-specified analysis, we did find evidence of differential attitudes on item-level RAQ scores. Specifically, decision-makers for participants with DS had increased odds of a more favorable response to the question of responsibility to help others (DS vs. non-DS: odds ratio [OR] = 1.26, 95% CI: 1.08, 1.48) and decreased odds of a more favorable response to the question regarding the belief that medical research would find cures for major diseases during their lifetime (DS vs. non-DS: OR = 0.77, 95% CI: 0.66, 0.90). Our findings provide insights for researchers to develop strategies for recruiting individuals with and without DS into clinical research. The observed item-level differences warrant further investigation to instruct precise recruitment strategies. Research attitudes between decision-makers for individuals with Down syndrome (DS) and decision-makers without DS were observed to be similar on average.Item-level differences in research attitudes were observed to differ for DS and non-DS decision-makers.These results can help facilitate precise recruitment strategies for populations with DS.

Integrated care for Down syndrome.

Down syndrome (DS), caused by an extra copy of chromosome 21 (trisomy 21), is the most intensively studied human aneuploidy condition. It is the leading cause of intellectual disability and birth defects. Although most prenatally diagnosed DS fetuses are aborted in Taiwan, there are still some infants with DS who are diagnosed after birth. In addition to intellectual disability, people with DS face systemic problems that include short stature, dysmorphism, congenital heart disease, congenital anomalies of gastrointestinal and genitourinary tracts, abnormal endocrine function, leukemia and leukemoid reactions. To provide better care for people with DS in Taiwan, we began the DS multi-disciplinary clinic that has opened once per month since November 2013. The multi-disciplinary clinic consists of several subspecialists who provide care for DS people. To date, approximately 200 patients have used the clinic. The average number of patients who use the clinic per month is 27±6 with a mean patient age of 16±12 years old (range 0.3-53 years). The average number of patients per specialist on each clinic day is 5.2±4.9 (range 0.5-20.9 patients). We focus on early detection and prevention of medical and developmental issues associated with DS. This coordinated approach allows DS patients and family to have more comprehensive care.

New interview and observation measures of the broader autism phenotype: group differentiation.

To identify the broader autism phenotype (BAP), the Family History Interview subject and informant versions and an observational tool (Impression of Interviewee), were developed. This study investigated whether the instruments differentiated between parents of children with autism, and parents of children with Down syndrome (DS). The BAP scores of parents of 28 multiplex autism families were compared with parents from, 32 DS families. The BAP measures provided good group differentiation but when considered together, the subject interview did not improve group differentiation. The differentiation was better for fathers than mothers. The measures do carry an important degree of validity; whether they can differentiate the BAP from other social disorders should be tested.

Down syndrome children and their families

The philosophy of community care means that responsibility for the care of children with Down syndrome (DS) remains still more firmly with the families. Demographic changes have made the typical DS family of the 1970s and 1980s differ in structure, size, and status from that typical of earlier decades. The findings of a population study of DS children and their families, matched with children with a similar degree of mental retardation, and of a longitudinal study of DS children born 1970-1972, are discussed in relation to a series of similar studies. From these results it is possible to identify vulnerable families for appropriate help.

Joubert syndrome is not a cause of classical autism

A previous report noted a 27% prevalence of autism in Joubert syndrome (JS), raising the question of overlapping etiologies. Family studies have shown that autism is characterized by family loading for a number of specific behavioral and psychiatric disorders and that the sib recurrence risk is around 4%. The purpose of this study is to determine whether children with Joubert and their families show behavioral or genetic characteristics similar to autism. Thirty-one volunteer Joubert families were identified. Parents completed a semi-structured family history interview and the Autism Behavioral Checklist. Rates of family loading for neuropsychiatric disorders in the JS families were compared to autism family history data and Down syndrome (DS) controls. The JS families had significantly lower rates of autism, alcoholism, cognitive, and language disorders than the autism families. Their rate of depression was lower, but not significantly different from that found in autism families. None of the JS children met the clinical cut-off for autism based on parental symptom report and the sib recurrence risk was 32% for the JS families compared to 4% for the autism and 0% for DS families. These data indicate that JS is a genetically distinct disorder from autism. Different genes with different inheritance patterns that affect neurodevelopment of the cerebellum could explain the clinical similarities previously reported in JS and autism.

Parents’ Satisfaction with Medical and Social Assistance Provided to Children with Down Syndrome: Experience in Estonia

Objective: Parents of children with mental or physical disabilities have been assumed to live more stressful lives than other parents, and people with Down syndrome (DS) may get second-rate care because of their diagnosis. The aim of this work is to investigate the extent of parents’ satisfaction with medical and social services in Estonia provided for the DS individuals and their families. Methods: From 1999 to 2001, fifty-nine DS families answered questionnaires in which we inquired about their satisfaction with medical and social assistance. Results: We found that satisfaction with the quality of the information about DS is low, and most of the parents are not satisfied with the social benefits and rehabilitation options. Conclusions: The DS families need more medical information about this syndrome. The medical staff has to learn more about how to deliver bad news and how to support parents. More work needs to be done in the area of rehabilitation options and social assistance.

A 1.6-Mb P1-Based Physical Map of the Down Syndrome Region on Chromosome 21

The Down syndrome (DS) region on chromosome 21, which is responsible for the main features of DS such as characteristic facial features, a congenital heart defect, and mental retardation, has been defined by molecular analysis of DS patients with partial trisomy 21. The 2.5-Mb region around the markerD21S55betweenD21S17andERGin 21q22 is thought to be important, although contributions of other regions cannot be excluded. In this region, we focused on a 1.6-Mb region between aNotI site, LA68 (D21S396,which is mapped distal toD21S17) andERG,because analysis of a Japanese DS family with partial trisomy 21 revealed that the proximal border of its triplicated region was distal to LA68. We constructed P1 contigs with 46 P1 clones covering more than 95% of the 1.6-Mb region. A high-resolution restriction map usingBamHI was also constructed for more detailed analysis. Our P1 contig map supplements other physical maps previously reported and provides useful materials for further analysis including gene isolation and sequencing of the DS region.

800 ANAIXSIS OF DNA HAPLOTYPES SUGGESTS A GENETIC PREDISPOSITION TO TRISOMY 21 ASSOCIATED WITH DNA SEQUENCES ON CHROMOSOME 21

To test the hypothesis that there is a genetic predisposition to non-disjunction (NDJ) associated with DNA sequences on chromosome 21 (C21), we used DNA polymorphism haplotypes for C21s to examine the distribution of different C21s in Down Syndrome (DS) and control families. The C21s from 20 Greek families with DS and 27 control Greek families have been examined for haplotypes using four common polymorphic sites adjacent to two very closely linked single copy DNA sequences which map to the proximal long arm of C21. Three haplotypes ++++, +——, -+++ with frequencies of 43/108, 24/108, 23/108, respectively, account for the majority of C21s in the control families. However, in the DS families haplotype -+++ was commonly associated with C21s which underwent NDJ (frequency 21/50, X2 = 9.6, p=0.023, df=3). There was no difference between the haplotypes of C21s which did not participate in NDJ in the DS families and those of the control families. In addition, DS and control families did not differ in the distribution of haplotypes for two DNA polymorphisms on chromosome 17. We conclude that the C21 which is marked in Greeks by -+++ for the four polymorphic sites examined is found much more commonly in chromosomes which participate in NDJ than in controls. We propose an increased tendency for NDJ due to DNA sequences associated with a subset of C21s bearing this haplotype.