The raison d'être of my research is simple: it’s about tossing one more starfish back into the surf. Down syndrome is not a disease, nor is it contagious or a death sentence (it only feels that way when you find out for the first time). At the moment of conception, the apprearance of extra genetic material results in a total of 47 chromosomes in every cell. Usually each cell has only 46, thus making an individual with Down syndrome far more like others than different from them. Yet, this extra chromosome presents special circumstances regarding their ability to acquire new skills, be it academic or practical, encompassing a specific learning profile with typical characterisitcs, strengths and weaknesses. Twenty-first century family life is simultaneously challenging and richly rewarding and the expectancy of most families are of a life lived on paved highways with well-marked signs, and rest stops never far apart. Adding an extra chromosome to the luggage sends the family travelling down a vastly different highway instead, not always knowing what is ahead. It’s scary, but in reality even those on the wide smooth roads do not know the future. Echoing the feelings of many parents, Leonard (1992: 5) states, “The trouble is that we have few, if any maps to guide us on the journey or show us how to find the path…” Assumptions from previous decades that used to increase stress associated with rearing a child with Down syndrome would negatively impact on individual family members and the family unit as such. This has made way for the growing consensus that it is not necessarily the norm. Whilst some families have trouble in adapting to the increased stress, other families adjust easier and even thrive. Successful adaptation seems more likely in resilient families who enjoy high levels of parental well-being and strong relationship bonds. Findings of this qualitative research study confirm that unresolved marital strains are more likely to result in divorce as opposed to the birth of their child with Down syndrome. Correspondingly, siblings of children with Down syndrome reported mostly positive impact than negated opportunities to participate in a normal childhood. My motivation for this research was to explore the nature of challenges faced by modern families and to provide mechanisms to facilitate positive adaptation for the family and aid vii inclusion of the child with Down syndrome into school and greater society. Recommendations are also presented for the medical professionals who, ironically, have proved to be the last people parents want to go for support, owing mostly to their decidedly objectionable treatment of parents; as well as the generally uninformed public, who seldom understand or support attempts of parents to include and expose their child to everyday experiences. In conclusion, I summarize: Should it be that I may influence but one person to see persons with Down syndrome for the potential that they hold instead of the associated problems of their condition, this would afford me the satisfaction and contentment knowing that I have succeeded in making a positive contribution to their plight. I would have successfully portrayed the families for the ordinary people they are with anticipations, aspirations and anxieties, but later tasting the elation of being empowered, and the resultant enjoyment and pride of the achievements of their extraordinary “starfish” child. The simple story below explains it all. A little boy was walking on the beach when he noticed scores of starfish washed onto the beach by the previous night’s high tide. He curiously watched as an old man bent down, came up slowly and tossed one starfish after the other into the surf. He went closer to investigate. “Excuse me, sir, what are you doing?” he enquired. The old man said: “I am throwing the starfish back into the ocean before they die, my boy…come, lend a hand”. The boy looked up and down the beach at the hundreds of starfish scattered along the shoreline. “But there’s too many…” said the boy, “it’ll make no difference!” The old man smiled, bent down, picked up another starfish, and carefully tossing it into the clear blue water, he replied, “…It makes a difference to this one…”

Includes bibliographical references / M.S. Florida State College for Women 1933

The purpose of this study was to describe the phonetic repertoire of late 8 phonemes among adolescents and young adults with Down syndrome and then determine the relationship between age and presence of the latest developing phonemes as well as their impact on intelligibility. This study also described the stimulability profile for those late 8 phonemes that were produced in error. The Arizona Articulation and Phonology Scale was administered to individuals with Down syndrome between the ages of 12 – 21;11 to obtain a phonetic profile. Among those participants included in the study, on average, 87.5% of the late 8 phonemes were present. Seven of eight participants were stimulable for all phonemes that were misarticulated. Results did not indicate a significant correlation between either age or intelligibility and the presence of late 8 phonemes.

The purpose of the current study was to analyze an existing data set featured in Osborne (2020). More specifically, the current study aimed to identify phonological processes occurring in the speech of adolescents and adults with Down syndrome and explore subsequent impacts to speech intelligibility. Phonology coding forms from the Arizona Articulation and Phonology Scale, Fourth Revision were completed by analyzing phonetic transcriptions and audio-recordings generated during the completion of the Word Articulation subtest by participants featured in Osborne (2020). Seventeen distinct phonological processes occurred across all participant responses. Phonological process occurrence and speech intelligibility values were found to have a significant negative correlation value (r(4)= -.7883, p= .063).

Individuals with Down syndrome have an increased risk formany conditions, including cardiovascular disease, cancer, infections, and osteoporosis, and endocrine, neurological, orthopedic, auditory, and ophthalmic disorders.They also are at increased risk for abuse and human rights violations and receive fewer screenings and interventions than the population without Down syndrome. In this literature review, the most common health conditions associated with Down syndrome are examined, along with the topics of sexual abuse, menstrual hygiene, contraception, and human rights. Clinical guidelines for this population are summarized in an effort to assist practicing physicians in improving their provision of health care to the adult patient with Down syndrome.

Down Syndrome is a human condition caused by an extra copy of a #21 chromosome. At least one to two percent of free (not translocated) trisomy 21 cases are mosaics, i.e., they have two or more distinct cell lines. Usually, one cell line is 47 ,XX or XY ,+21 while the other cell line is normal 46,XX or 46,XY. The purpose of the study was to establish the etiologies of the separate cell lines by determining whether the zygote was trisomic or normal. Meiotic non-disjunction in the formation of a gamete could lead to a trisomic zygote; loss of a #21 chromosome during a later mitotic division could then lead to a chromosomally normal cell line. Alternatively, a mitotic error in a normal embryo can produce a trisomy 21 cell line.

Indiana University-Purdue University Indianapolis (IUPUI) / Down syndrome (DS) is caused by three copies of human chromosome 21 (Hsa21) and results in phenotypes including intellectual disability. Ts65Dn mice, the most extensively studied DS model, have three copies of ~50% of the genes on Hsa21 and display many phenotypes associated with DS, including cognitive deficits. DYRK1A is a dosage-sensitive gene found in three copies in humans with Trisomy 21 and in Ts65Dn mice and is involved in CNS development. Overexpression of DYRK1A is hypothesized to cause many of the cognitive and developmental deficits observed in DS and has been touted as a target for drug development in DS. Definitive evidence that excessive expression/activity of Dyrk1a directly contributes to specific phenotypes in DS mouse models is limited, and there is no direct evidence that verified pharmacological inhibition of Dyrk1a in vivo causes enduring improvement in DS cognitive phenotypes. In part, this reflects the remarkably limited knowledge of the temporal regulation of Dyrk1a expression and activity in different brain regions across development in DS mouse models. To establish the therapeutic potential of Dyrk1a inhibitors, the first aim of this study was to determine when and in what brain regions excessive Dyrk1a is evident and to identify developmental periods when elevated expression of Dyrk1a may be contributing to enduring aberrant functional development. This aim provided systematic quantification of Dyrk1a protein level at key postnatal (P) ages (P12, P15, P18, P24 P30, P42) in Ts65Dn mice, at ages of translational relevance to clinical applications in humans (birth, early adolescence, late adolescence, young adult). Western blot analysis showed that significant elevation of Dyrk1a with the largest effect sizes occurred in trisomic mice on P15. The second aim of this study was to test whether treating Ts65Dn with a novel Dyrk1a inhibitor (CX-4945) during the time of Dyrk1a elevation would rescue the behavioral and structural abnormalities observed. From P14-P18, Ts65Dn and euploid mice were treated with 75mg/kg CX-4945 or DMSO (vehicle) and tested on a homing task and locomotor activity in a novel arena on P17-P18, counterbalanced for order. At the cessation of treatment, hippocampal cell proliferation was assessed. While there was a lack of statistically significant improvements with CX-4945 treatment, there were modest effect sizes. In addition, several of the behavioral studies were significantly underpowered, making it difficult to conclusively ascertain the efficacy of CX-4945 on specific phenotypes. Nevertheless, this study demonstrates that Dyrk1a is dynamically expressed across development in mice, and suggests that consideration of the spatial and temporal expression of Dyrk1a may well be critical in the development of therapeutics for DS.

No description available.

Indiana University-Purdue University Indianapolis (IUPUI) / Down syndrome (DS) is the most common aneuploidy to affect humans and occurs in approximately 1 of 750 live births. Individuals with DS present with a wide range of clinical phenotypes. Common craniofacial phenotypic expressions include a small mandible, protruding tongue, and a flattened nasal bridge. These traits may affect the feeding, breathing, and swallowing of individuals with DS. Because some complications may go unnoticed for longer periods of time, we hypothesize that significant cardiac and GI defects may be indicative of feeding and airway difficulties. In order to better understand the secondary phenotypes resulting from DS, we have implemented a retrospective chart review of 137 infants between zero and six months of age who were evaluated through the Down Syndrome Program at Riley Hospital for Children from August 2005 to August 2008. Data regarding cardiac, gastrointestinal, endocrine, airway, auditory, and feeding abnormalities have been collected and incedences and comorbidites of these traits has been examined. Comprehensive results indicate cardiac abnormalities occur in 80% of infants, 60% experience gastrointestinal complications, feeding difficulties occur in 46%, and airway complications occur in 38% of infants. Infants with DS were found to be breastfed less over time, with an increase in tube feeds. Notably, we have found all infants with videofluoroscopic evaluations had some type of dysphagia. The presence of gastrointestinal abnormalities closely correlate with the need for tube feeds, and the comorbidity between GI anomalies and muscle tone appear to indicate the likelihood of feeding difficulties and need for altered feeding strategies. Comorbidities between feeding difficulties were nearly significant with cardiac defects and significant with GI abnormalities. Identification of such associations will help healthcare providers determine the best course of treatment and recommended feeding methodology for infants with DS. In order to utilize an in vitro model to study the craniofacial dysmorphologies seen in individuals with DS, cranial neural crest cells (NC) have been cultured. With these, we have begun to investigate the mechanisms behind a smaller trisomic mandibular precursor as compared to the euploid. With this in vitro model, we will be able to test proliferation, migration, and senescence of NC in a culture system.

The purpose of this study was to determine the reliability of sixteen balance tests in individuals with Down syndrome (DS). The following tests were performed on 21 participants with DS, aged 5-31 years of age; standing test on firm and soft surfaces with the eyes opened and closed, a balance subset of the Bruininks-Oseretsky test, full turn, timed-up-and-go test, forward reach, and sit-to-stand. Each participant completed all 16 assessments twice on one day and then again on a subsequent day for a total of four trials. Seven tests had reliability coefficients greater than 0.55; one-leg stand on floor (0.76), on balance beam with eyes opened (0.62) and eyes closed (0.69), heel-to-toe walk on balance beam (0.63), straight line walk on floor (0.57), and CGS on firm (0.63) and soft (0.86) surfaces with eyes opened. We recommend these seven tests for use in clinical and non clinical settings.