**4. Discussion**

Through retrospective review of the electronic clinic intake forms of 546 patients with DS in the MGH DSP, we found:


Adults with DS exhibited a great range in the type and number of activities of daily living that they were able to complete. Fewer adults with DS cooked independently, while some bathed and showered independently, and the majority were able to brush their teeth, use the restroom, and eat independently. A similar study of adults with DS separated meal preparation abilities into two categories, preparing simple meals and cooking meals; 18% said they had "a lot of difficulty" preparing simple meals like sandwiches or cereal, compared to 52.2% that said they had "a lot of difficulty" with cooking [5]. While we did not make this distinction in our electronic intake form, both rates of independence in Matthews et al. are greater than the findings in our cohort in which 4% of adults with DS were able to cook on their own. In our cohort, 46% of adults with DS bathed on their own and 48% showered on their own. A study of children with DS which looked at the level of supervision needed for bathing found similar results, with 48% requiring no help [8]. We found that 71% of adults with DS in our cohort used the restroom independently, which aligns to a previous study in which 76.4% of adults with DS used the toilet independently [5]. Lastly, we found that 89% of our adult cohort ate independently; a previous study found that 88.8% of their adult cohort could eat independently [5]. This description of activities of daily living helps to quantify the level of support needed on a daily basis for adults with DS in our cohort, which could be useful for future studies aiming at improving aspects of independence.

The preferred form of communication varies in DS; many (87%) of our adults with DS used verbal communication. Previous study found 92.3% of individuals with DS age 14–62 used verbal communication to some extent, though their results include granularity on the level of difficulty ranging from 15% who used verbal communication with no difficulty, to 18% who used verbal communication with great difficulty [7]. Additionally, in our cohort, 58% could read and 64% could write; these rates are higher than published (8.1–52.1% and 13.5–52.1%, respectively) [6,7].

The independence skills most often attained by our patients with DS age 13 and up were dressing, sleeping 7 to 8 h a night, using a public restroom on their own, and swallowing whole pills. In our cohort, 72% of patients with DS over the age of 13 dressed themselves; this rate was less than that which De Graaf et al. found, which was that 83.9% of adults studied with DS over the age of 20 were able to dress with no additional help [6]. In our cohort, 58% of our patients with DS age 13 years and older slept 7 to 8 h a night. Although studies evaluating sleep have measured sleep duration using methods such as actigraphy watches and parent report, the other studies we identified which evaluate aspects of independence have not collected information on sleeping abilities, despite the high prevalence of sleep apnea within the population [22]. Importantly, although a previous study found that 35% of adults with DS were able to take medications independently, in our cohort, more than half (53%) could swallow pills whole on their own, which has important implications for feasibility of medication administration in future clinical trials and medication adherence [5]. In addition, we found that 56% of patients in our cohort can use the public restroom on their own; this has not been evaluated in previous studies on independence, but has important implications on integrating adults with DS into the community, such as the ability to take outings in the community alone, to navigate public situations independently, and to go into settings which might require the use of a public restroom.

When planning for the future, the focus will likely be on unattained but important skills. In our cohort, the skills that were reported as most important and not yet attained were: learning about healthy foods, preparing their own meals, communicating personal information, and describing symptoms to a doctor. Those of least importance included learning to refill prescriptions, knowing what each medication is for, and finding their medication list. While other studies have looked at the level of attainment of some of these skills, none have reported on which were most important and least important for families to achieve with their loved one with DS. Behavioral support and interventions would likely best be focused on some of the unattained but important skills rather than

those of lesser importance. For example, given the interest in healthy foods and meal preparation, it might be important to give additional resources to support nutritionists, feeding therapists, and related resources, like adapted cookbooks or electronic mealtime supports [23]. Resources are available online to promote independence skills [24]. Given the interest in communicating personal information, it might be helpful to create a tool for individuals with DS to practice this skill and could even be combined with the skill of describing symptoms to a doctor. One online digital healthcare tool developed by the MGH Down Syndrome Program and MGH Laboratory of Computer Science, Down Syndrome Clinic to You (DSC2U), provides families with a loved one with DS 13 years or older with a life skills checklist to identify social stories and other resources to practice and improve the life skills families select as most important right now [25]. For example, if a caregiver marks that their teenager or adult with DS would like to work on describing how they feel to their doctor, one skill we found is very important to families for independence, DSC2U will suggest specific resources to help work on this specific independence goal. If they select that they would like to work on preparing meals on their own, DSC2U will link to a cookbook designed specifically for people with DS. DSC2U can bring tailored independence resources directly to families to improve on a variety of life skills [25].

It is also interesting to note that the skills rated as unattained and least important were most often related to medical encounters. Instead of discounting these skills as not important for families, these could be growing points for physicians to support families in realizing areas their loved ones can have independence in medical settings. While a skill like refilling a prescription may feel unattainable or unnecessary at the time due to familial support, that is one area that the person with DS could exert independence with encouragement from family and providers. Having this information on the areas of greatest and least importance seems to hold opportunities for future research and intervention.

Notably, the percent of individuals of a given age who had attained given skills was high in our subgroups in their 30s and 40s. Adults in their 30s and 40s more often attained skills (in half or more of the cohort) than adolescents age 13–17 years and young adults age 18–22 years. While our cohort of adults in their 40s was still able to carry out many skills of independence, attainment seems to fall off for many of skills in the 50–59 and 60+ age groups. Differences between individuals and age groups may account for some of this variation in attainment of skill, and future studies should follow individuals longitudinally to determine if individuals can indeed gain independence skills through adulthood. However, our analysis by age subgroup provides useful evidence that adults with DS can continue to gain skills after high school and into adulthood.

One purpose of our study was to develop a baseline for future quality improvement goals for our program and to identify targets for future quality improvement work to improve independence. Our study is limited by our data collection method and the aspects of our single cohort. The electronic clinic intake form was mostly completed by parents or caregivers, but some marked that the form was self-completed by the individual with DS. So, all information collected was caregiver-reported or self-reported and not confirmed through a validated instrument or clinical notes. We cannot verify the extent of assistance, if any, with which the intake form was self-completed, therefore we are unable to distinguish whether caregivers read it to the person with DS, explained questions, or if the individual with DS completely independently completed the intake process. Although the MGH DSP sees patients across the country and internationally, non-English speakers were not included since the electronic intake form was only available in English at the time of the study. In the case of technology limitations or difficulties, caregivers were presented with the option of a mailed paper version of the form. These non-electronic, paper versions were not included in our data analysis. Additionally, our study did not distinguish between different types of heart disease; 39% had heart disease within our cohort, but this was not specifically congenital heart disease. This study reflects just one cohort of patients at our program and may not generalize to other clinics, or all individuals with DS. Future

studies could expand on this review to include additional DS specialty clinics, or to track development of independence skills in our cohort over time.

In the future, it would be useful to collect self-reported data from individuals with DS of what skills are most important and most meaningful for independence, rather than caregiver-reported data. These skills can then guide future surveys on independence, future instruments to measure health, and future modifications to care. For example, the intake form did not include many questions about social activities which were asked in other studies of independence, such as working, volunteering, hanging out with friends, or playing games. If this is viewed as important to patients and their families, it could be added to better capture aspects of life which are meaningful to independence. The study provides information on the skills which are viewed as the most meaningful for independence and lays a framework for beginning to develop a measure of independence in DS. If an instrument was developed to measure independence reliably and validly, this could have important implications on future research and interventions. In comparing our results to published studies, we found that it was not easy to combine data with other independence studies given the varied methods of data collection, varied wording on surveys used, and varied approaches to reporting results as the percentage attaining a skill or the age at which a skill was attained. Developing a standard method of collection for independence skills and activities of daily living would allow researchers to expand study to include larger cohorts such as a national sample through DS-Connect [26]. Finally, with this knowledge, studies could be done to focus on how best to modify those factors which are most important for independence and daily living. Identifying effective interventions and ways to support families in building these skills could guide DS specialty clinics, researchers studying DS, and parent resource groups and advocacy organizations dedicated to individuals with DS.
