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<p>Down syndrome (DS) is a genetic condition caused by the triplication of human chromosome  21 and presents with many phenotypes including decreased brain size, hypocellularity in the brain,  and assorted ocular phenotypes. Some of the ocular phenotypes seen are increased risk of cataracts,  accommodation difficulties, increased risk of refractive errors, and increased retinal thickness. The  Ts65Dn mouse model of DS is a classically used mouse model as it presents a number of  phenotypes also seen in those with DS. Some of these phenotypes include decreased brain volume,  abnormal synaptic plasticity, and ocular phenotypes. These ocular phenotypes include decreased  visual acuity, cataracts, and increased retinal thickness. The Ts65Dn mouse model is trisomic for <em>Dyrk1a</em>, a gene of interest in DS research. We hypothesize that there will be a genotypic and sex effect of retinal thickness and retinal ganglion cell (RGC) count at postnatal day 15 in the Ts65Dn  mouse model of DS. Retinal slices were taken from male and female trisomic and euploid Ts65Dn  mice at P15 and fluorescently labeled for RGCs and bipolar cells via immunohistochemistry. The  retinas were measured for total retinal thickness and RNA-binding protein (RBPMS) positive cells in the RGC layer were counted. There was no genotypic or sex effect when comparing retinal  thickness in trisomic mice as compared to euploid mice. There was a genotypic effect of RBPMS  positive cell count in which the trisomic mice had a higher number of RBPMS positive cells than  euploid mice. Increased retinal thickness along with increased RGC number have both been  implicated with decreased apoptosis in the retina. In the Ts65Dn mouse model along with in  individuals with DS, this could be due to an increase in DYRK1A protein levels reducing apoptosis.  In future studies, determining DYRK1A’s influence in retinal thickness and RGC number could  result in a treatment for overactive <em>DYRK1A</em> that could normalize retinal thickness and RGC  number in those with DS.</p>

Speech-Language Pathologists provide services to youth with Down syndrome. The purpose of this study was to (a) determine if parents are aware that speech-language pathologists can provide services to prepare their children for secondary transition; (b) identify the parents’ perceptions of the services provided by speech-language pathologists; and (c) determine if in the parents’ opinion, the speech-language pathologist provided a vital role in preparing their child for transition. Using nonprobability snowball sampling, this cross-sectional mixed-method survey study included 85 parents of youth (ages 14-22) with Down syndrome across the United States. Parents rated their experiences and described their beliefs and perceived helpfulness toward their child’s SLP(s) regarding secondary transition. To identify further thoughts regarding parents’ perceptions of their engagement in the transition process, deductive, inductive, and thematic analysis of two open-ended questions uncovered three themes of responses pertaining to SLPs in secondary transition services, noted as satisfied, career, and unsatisfactory.

Individuals with intellectual disabilities often lack access to appropriate sexual education, leading to negative impacts on their well-being and safety. Occupational therapists can play a vital role in addressing sexual education, health, behaviors, and community safety for these individuals. The Talk aims to empower school-based occupational therapists to become advocates and educators in the field of sexual health and behaviors, improving overall well-being and safety. This 6-hour presentation celebrates neurodiversity and provides up-to-date information and case studies to enhance understanding and promote strategies for working with young adults with intellectual disabilities. The program seeks to reduce the risk of sexual victimization and promote education and strategies for increased bodily autonomy and a better future. Plans for program implementation, funding, and evaluation of The Talk are included as well as dissemination of program findings to advance the occupational therapy evidence base.

Background / Aim: Traditionally, research has focused more on mothers’ attitudes and their experiences with their children having Down Syndrome (DS). This study aims to identify various attitudes and perceptions of fathers toward their children with Down syndrome. Two research questions were formulated to further explore the aim.  Method: Four databases were used for the search process and five peer-reviewed studies met the predefined inclusion and exclusion criteria. Data were extracted using the overall data of 519 fathers as participants from the selected studies.  Results: A chronology comprising 5 primary categories with underlying themes was established. These categories reflect on different stages of a child's life, including infancy, middle childhood, adolescence, and middle adulthood. As well as other concerns of fathers such as gender roles, personal worries, and financial troubles were also identified. Additionally, the challenges and rewards of raising a child with DS were identified.  Conclusions: Despite the difficulties, fathers considered several strategies for accepting and helping their children. Fathers generally had a good attitude toward their children. However, it was found that there needs to be more knowledge of DS in society. Lastly, practical implications, limitations, and future research directions are discussed.

Trisomy 21, caused by triplication of human chromosome 21, is also known as Down syndrome (DS) and affects every 1 out of 800 births. DS causes morphometric deviations in the brain and face as well as behavioral changes, due to gene dosage imbalances. Since many DS studies focus on adults, there are very few that explore how DS influences children. This investigation helps to fill this void in the literature by seeking to understand the differences in brain morphometry in children with DS and euploid controls. To do this, we first obtained two age- and gender-matched sample groups composed of MRI images from 1) children with DS (n=31 images, 0-4 yrs.); 2) euploid children (n = 31 images, 0-4 yrs.). MRI images were provided by the Florida Hospital (now AdventHealth) and the National Institute of Health. On these MRI images, 36 anatomical landmarks were placed throughout the brain. With the 36 landmarks, Euclidean Distance Matrix Analysis was used to measure every unique linear distance between landmarks, resulting in a total of 630 linear distances. Out of 630 linear distances, 211 (33.49%) were significantly different between the two samples (p-value < 0.05), as determined by analysis of variance (ANOVA) calculations. From these 211 linear distances, 22 were extremely different between the two samples (p-value < 0.001) and were thoroughly analyzed. Based on our results, regions of the brain that were significantly different in children with DS include the following: frontal lobe, occipital lobe, ventricles, thalamus, striatum, and corpus callosum. Such morphometric changes are likely associated with behavioral changes such as social-cognitive defects and motor-related issues commonly seen in DS.

Children with Down syndrome often have high body mass index scores, brought on by hypothyroidism, poor mastication, decreased metabolic rates, and inconsistent physical fitness routines. Along with various genotypic characteristics, several behavioral tendencies accompany the diagnosis of Down syndrome. People with this condition often engage in noncompliant behaviors in an attempt to escape work-related tasks such as exercising. A lack of a consistent fitness regimen may result in additional health complications for this particular group of people, as well as ensuing concerns from the parents or guardians who care for them. Because of the propensities for poor physical health in people with Down syndrome, it is imperative that this group of people include exercise-related activities in their health-care routines to help promote a positive well-being from childhood to adulthood.The purpose of this study is to report on the results of an intervention which utilized high-probability tasks and principles of generalization to address noncompliant behaviors in a 9-year-old boy who had Down syndrome and a history of engaging in refusal towards exercise-related activities. Gross motor skills adapted from the Test of Gross Motor Development assessment were used throughout the study to evaluate both compliance and accuracy of the pre-selected movements. This study used a changing conditions design to assess John’s growth throughout 5 distinct phases. Results from both the high-probability tasks and generalization interventions showed an overall increase in the participant’s compliance and accuracy of skill development throughout all stages of the experiment. Implications from this study provide positive support for using antecedent-based interventions to help individuals with Down syndrome engage in exercise-related activities.

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