Research in health disparities and how they affect underserved populations continues to grow and expand. However, the experiences of Arab/Middle Eastern and North African (MENA) Americans often go ...unnoticed, and yet, preliminary data suggests there are significant disparities between this population and other groups. The purpose of this scoping review is to examine and synthesize the extent of available literature on health disparities and outcomes for this group.
A scoping review was conducted to investigate the current state of research on health disparities and outcomes among Arab/MENA individuals within the USA. The PRISMA protocol for scoping reviews was utilized.
Through the use of PubMed and PsychInfo databases, the search identified 43 articles that were eligible for inclusion in the final review. Five themes emerged: prevalence and health outcomes, factors impacting health, comparison studies, barriers, and health literacy and beliefs. Extant data was equivocal, suggesting the need for further research.
Research on Arab/MENA health disparities and outcomes is in the detection phase, indicating that more research is needed to elucidate the state of Arab/MENA health in the USA. These findings can help healthcare professionals and researchers understand the emerging literature on health disparities within the Arab/MENA community and inform further research and clinical practice within this population.
X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic disorder, affects the normal development of ectodermal derivatives, such as hair, skin, teeth, and sweat glands. It is caused by ...pathogenic variants of the gene EDA and defined by a triad of hypotrichosis, hypo- or anodontia, and hypo- or anhidrosis which may lead to life-threatening hyperthermia. Although female carriers are less severely affected than male patients, they display symptoms, too, with high phenotypic variability. This study aimed to elucidate whether phenotypic differences in female XLHED patients with identical EDA genotypes might be explained by deviating X-chromosome inactivation (XI) patterns.
Six families, each consisting of two sisters with the same EDA variant and their parents (with either mother or father being carrier of the variant), participated in this study. XLHED-related data like sweating ability, dental status, facial dysmorphism, and skin issues were assessed. We determined the women`s individual XI patterns in peripheral blood leukocytes by the human androgen receptor assay and collated the results with phenotypic features.
The surprisingly large inter- and intrafamilial variability of symptoms in affected females was not explicable by the pathogenic variants. Our cohort showed no higher rate of nonrandom XI in peripheral blood leukocytes than the general female population. Furthermore, skewed XI patterns in favour of the mutated alleles were not associated with more severe phenotypes.
We found no evidence for preferential XI in female XLHED patients and no distinct correlation between XLHED-related phenotypic features and XI patterns. Phenotypic variability seems to be evoked by other genetic or epigenetic factors.
•Decreased IU from pre to post treatment associated with increased coping efficacy.•Decreased IU was associated with decreased anxiety symptom severity.•Decreased IU was associated with decreased ...functional impairment.•Results held across parent and youth report.
The current study examined the association between changes in intolerance of uncertainty (IU) and treatment outcomes for anxious youth. Participants were youth ages 7 to 17 who received cognitive behavioral therapy for anxiety (N = 73). Youth and their primary caregivers completed a diagnostic interview and self- and parent-report measures at pre- and post-treatment, including the Intolerance of Uncertainty Scale for Children (IUS-C/P; Przeworski, 2006), the Coping Questionnaire (CQ-C/P; Kendall, 1994) and the Multidimensional Anxiety Scale for Children (MASC-C/P; March et al., 1997). Hierarchical regression analyses evaluated the role of change in IU (the IUS-C/P) in predicting changes in functional impairment, coping efficacy, and anxiety severity post-treatment, controlling for demographic variables (age and gender), and baseline levels of IU, anxiety severity, functional impairment, and coping efficacy. Results demonstrated that treatment was associated with improvements across child-, parent- and clinician-report, and decreased IU from pre- to post-treatment was associated with (a) decreased functional impairment, (b) increased coping efficacy and (c) decreased anxiety severity. The findings indicate that a greater reduction in IU over treatment is associated with better outcomes in children and adolescents with anxiety across informants, suggesting the possibility that an increased focus on IU during treatment for youth anxiety may improve treatment outcomes. Future research should assess the causality of this relationship.
This study (a) examined anxious youth with and without asthma on measures of negative self-talk, parental psychopathology, worry content, physical symptoms, panic symptoms, generalized symptoms, and ...separation anxiety symptoms, and (b) tested if outpatient CBT or medication were differentially effective in reducing anxiety for youth with asthma and anxiety.
This secondary analysis separated youth with an anxiety disorder into asthma and non-asthma groups. Youth were also compared on response to treatments (i.e. CBT, sertraline, combined, and placebo).
A total of 488 participants participated in the original study, with an average age of 10 years (
2.87). Youth with comorbid asthma and anxiety demonstrated higher rates of negative self-talk. Youth with comorbid asthma and anxiety did not differ from the non-asthma group on measures of physical symptoms, anxiety disorder specific symptoms, parental psychopathology, or worry content. Youth with asthma and anxiety responded similarly to the non-asthma group to treatment across treatment conditions.
Treatment was comparably effective for youth with comorbid asthma and anxiety and youth with anxiety. Future research could examine the effects of psychopharmaceuticals on asthma and anxiety comorbidity.
Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer-assisted syndromology. However, the ability to recognize ...a syndromic facial gestalt might depend on the syndrome and may also be confounded by severity of phenotype, size of available training sets, ethnicity, age, and sex. Therefore, benchmarking and comparing the performance of deep-learned classification processes is inherently difficult. For a systematic analysis of these influencing factors we chose the lysosomal storage diseases mucolipidosis as well as mucopolysaccharidosis type I and II that are known for their wide and overlapping phenotypic spectra. For a dysmorphic comparison we used Smith-Lemli-Opitz syndrome as another inborn error of metabolism and Nicolaides-Baraitser syndrome as another disorder that is also characterized by coarse facies. A classifier that was trained on these five cohorts, comprising 289 patients in total, achieved a mean accuracy of 62%. We also developed a simulation framework to analyze the effect of potential confounders, such as cohort size, age, sex, or ethnic background on the distinguishability of phenotypes. We found that the true positive rate increases for all analyzed disorders for growing cohorts (n = 10...40) while ethnicity and sex have no significant influence. The dynamics of the accuracies strongly suggest that the maximum distinguishability is a phenotype-specific value, which has not been reached yet for any of the studied disorders. This should also be a motivation to further intensify data sharing efforts, as computer-assisted syndrome classification can still be improved by enlarging the available training sets.
Genetic syndromes are frequently associated with Intellectual Disability (ID), as well as craniofacial dysmorphisms. A group of ID syndromes with typical abnormal face related to chromatin remodeling ...defects, have been recognized, coining the term chromatinopathies. This is a molecular heterogeneous subset of congenital disorders caused by mutations of the various components of the Chromatin-Marking System (CMS), including modifiers of DNA and chromatin remodelers. We performed a phenotypic study on a sample of 120 individuals harboring variants in genes codifying for the histones enzymes, using the DeepGestalt technology. Three experiments (two multiclass comparison experiments and a frontal face-crop analysis) were conducted, analyzing respectively a total of 181 pediatric images in the first comparison experiment and 180 in the second, all individuals belonging predominantly to Caucasian population. The classification results were expressed in terms of the area under the curve (AUC) of the receiver-operating-characteristic curve (ROC). Significant values of AUC and low p-values were registered for all syndromes in the three experiments, in comparison with each other, with other ID syndromes characterized by recognizable craniofacial dysmorphisms and with unaffected controls. Final findings indicated that this group of diseases is characterized by distinctive dysmorphisms, which result pathognomonic. A correct interrogation and use of adequate informatics aids, could become a valid support for clinicians.
Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been ...described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification.
We studied the discriminatory power of multiple GPI-linked substrates that were assessed by flow cytometry in blood cells and fibroblasts of 39 and 14 individuals with a GPIBD, respectively. On the phenotypic level, we evaluated the frequency of occurrence of clinical symptoms and analyzed the performance of computer-assisted image analysis of the facial gestalt in 91 individuals.
We found that certain malformations such as Morbus Hirschsprung and diaphragmatic defects are more likely to be associated with particular gene defects (PIGV, PGAP3, PIGN). However, especially at the severe end of the clinical spectrum of HPMRS, there is a high phenotypic overlap with MCAHS. Elevation of AP has also been documented in some of the individuals with MCAHS, namely those with PIGA mutations. Although the impairment of GPI-linked substrates is supposed to play the key role in the pathophysiology of GPIBDs, we could not observe gene-specific profiles for flow cytometric markers or a correlation between their cell surface levels and the severity of the phenotype. In contrast, it was facial recognition software that achieved the highest accuracy in predicting the disease-causing gene in a GPIBD.
Due to the overlapping clinical spectrum of both HPMRS and MCAHS in the majority of affected individuals, the elevation of AP and the reduced surface levels of GPI-linked markers in both groups, a common classification as GPIBDs is recommended. The effectiveness of computer-assisted gestalt analysis for the correct gene inference in a GPIBD and probably beyond is remarkable and illustrates how the information contained in human faces is pivotal in the delineation of genetic entities.
According to literature CES patients have a typical face with coloboma, preauricular pits, and anal atresia. The separation quality (CES vs. controls) was evaluated by creating composite images of ...both groups (Figure 1a) and measuring the Area Under the Curve (AUC = 0.89) of the receiver operating characteristic (ROC) curve (Figure 1b) as previously described(Liehr et al., 2018). FIGURE 1. (a) Composite images created for both groups being compared in this study—CES patients and age/sex/ethnicity matched unaffected controls. (b) Score distribution and ROC curve showing the comparison results, displaying and AUC = 0.898 with a p value less than0.0001 Even though today next-generation sequencing technologies with DNA-variant interpretations are clearly “en vogue,” these are not able to solve all problems of medical genetics. sSMCs are evidence proving that cytogenetics still has its place in the concert of cytogenomic approaches. ...NGP technologies, such as the one described here is another, new player in cytogenomics, which needs more attention—more such syndromes need to be included.
Recessive loss-of-function variants in
a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called "Ehlers-Danlos syndrome, spondylodysplastic form ...type 3" (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been described. We describe here four additional affected individuals from three consanguineous families and the follow up of two of the original cases. In our series, cardinal findings included thin and finely wrinkled skin of the hands and feet, characteristic facial features with downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia, or oligodontia, and-in contrast to most types of Ehlers-Danlos syndrome-significant short stature of childhood onset. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Two of our patients developed severe keratoconus, and two suffered from cerebrovascular accidents in their twenties, suggesting that there may be a vascular component to this condition. All patients tested had a significantly reduced ratio of the two collagen-derived crosslink derivates, pyridinoline-to-deoxypyridinoline, in urine, suggesting that this simple test is diagnostically useful. Additionally, analysis of the facial features of affected individuals by DeepGestalt technology confirmed their specificity and may be sufficient to suggest the diagnosis directly. Given that the clinical presentation in childhood consists mainly of short stature and characteristic facial features, the differential diagnosis is not necessarily that of a connective tissue disorder and therefore, we propose that
is included in gene panels designed to address dysmorphism and short stature. This approach may result in more efficient diagnosis.
Abstract Background Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and ...psychosis spectrum disorders (PS) and likely represent a disruption of early embryologic development that may help identify overlapping mechanisms linked to psychosis in these disorders. Methods Here, 2D digital photographs were collected from 22q11DS ( n = 150), PS ( n = 55), and typically developing (TD; n = 93) individuals. Photographs were analyzed using two computer-vision techniques: (1) DeepGestalt algorithm (Face2Gene (F2G)) technology to identify the presence of genetically mediated facial disorders, and (2) Emotrics—a semi-automated machine learning technique that localizes and measures facial features. Results F2G reliably identified patients with 22q11DS; faces of PS patients were matched to several genetic conditions including FragileX and 22q11DS. PCA-derived factor loadings of all F2G scores indicated unique and overlapping facial patterns that were related to both 22q11DS and PS. Regional facial measurements of the eyes and nose were smaller in 22q11DS as compared to TD, while PS showed intermediate measurements. Conclusions The extent to which craniofacial dysmorphology 22q11DS and PS overlapping and evident before the impairment or distress of sub-psychotic symptoms may allow us to identify at-risk youths more reliably and at an earlier stage of development.
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