**3. Results**

From 2014–2020, 350 pediatric and 196 adult patients had a first visit to the MGH DSP and completed an intake form. Of these, 521 of the completed intake forms were completed by the caregiver of the individual with DS, and 25 of the intake forms were marked as self-completed by the individual with DS. Demographic details showed age ranging from 0–62 years and 46% of the patients were female. The average age of the overall cohort was 22 years, of which the average age of those completing the pediatric intake and adult intake were 10 and 35 years, respectively. The majority of the cohort self-identified as white (88%), and not Hispanic or Latino (83.3%). In the total cohort, the most common co-occurring medical condition reported was heart disease (38.6%). In the pediatric group alone, hypotonia was reported most frequently (40.8%). For adults only, heart disease remained most common, followed by thyroid disease (44.9%). (Table 1).

**Total Cohort (***n* **(%)) Pediatric Intakes (***n* **(%)) Adult Intakes (***n* **(%))** Male 295 (54%) 185 (53%) 110 (56%) Race: White 482 (88%) 297 (85%) 185 (94%) Black or African American 19 (4%) 14 (4%) 5 (3%) American Indian 2 (<1%) 2 (1%) 0 Asian 52 (10%) 48 (14%) 4 (2%) Hawaiian 1 (<1%) 1 (0.3%) 0 Other 18 (3%) 17 (5%) 1 (1%) Ethnicity: Hispanic or Latino 91 (17%) 87 (25%) 4 (2%) Co-occurring medical conditions:

Heart disease 211 (39%) 117 (33%) 94 (48%) Seizures 32 (6%) 13 (4%) 19 (10%) Autism 42 (8%) 29 (8%) 13 (7%) Dementia 16 (3%) 0 16 (8%) Cognitive Decline 49 (9%) 12 (3%) 37 (19%) Expressive Language Delay 125 (23%) 71 (20%) 54 (28%)

Hypotonia 190 (35%) 143 (41%) 47 (24%) Thyroid disease 179 (33%) 91 (26%) 88 (45%) Depression 51 (9%) 12 (3%) 39 (20%) Anxiety 104 (19%) 50 (14%) 54 (28%)

**Table 1.** Demographic details of the 546 patients with Down syndrome (DS) in the Massachusetts General Hospital Down Syndrome Program (MGH DSP) with completed electronic intake forms.



**Table 1.** *Cont.*

Daily characteristics of the sample included: pediatric patients were most often enrolled in school, and in an inclusion setting, while adult patients were most often participating in a day program, living with family, and wanted to continue living with family in the future (Table 2). Most (87%) of adults with DS communicated verbally, though fewer used written communication (17%). Assistive devices were used by both pediatric (34%) and adults (30%) with DS. Adults with DS used a smartphone (52%), read (58%), and wrote (64%). Activities of daily living which were completed by the adult with DS on his/her own ranged: 4% could cook independently, 46% bathed independently, 48% showered independently, 58% brushed teeth independently, 71% toileted independently, 74% dressed independently, and 89% fed independently (Table 2).

**Table 2.** Characteristics of 350 pediatric and 196 adult patients with Down syndrome (DS) in the Massachusetts General Hospital Down Syndrome Program (MGH DSP).



**Table 2.** *Cont.*

Independence skills for adolescents and adults with DS were ranked by importance, and those of greatest importance included: learning about healthy foods (35%), preparing meals (34%), providing personal information when needed (35%), and describing symptoms to a doctor (35%; Table 3). Skills which were most often reported as attained included: dressing self (72%), getting 7 to 8 h of sleep (58%), using a public restroom (56%), and swallowing whole pills (53%). Some skills were most often reported as not important: learning how to refill my prescriptions on my own (69%), learning what each medicine is for (61%), finding my medication list (60%). Many skills show a range in responses across the response options in the electronic intake form filled out before their clinic visit.

**Table 3.** Independence skills of 337 patients with Down syndrome age 13+ years in the MGH DSP.



**Table 3.** *Cont.*

<sup>+</sup> Note important. ‡ Not important now to me now, but I want to try later. <sup>ˆ</sup> This is really important to me now. § Skill attained. Note: Instructions: this section should be completed by or with the patient with Down syndrome. If a particular question does not apply to the patient, choose 'Not important'. Gray highlighting = most frequent response to each item.

> Among those skills ranked as really important now, but not yet attained, additional questions were asked about level of ability. Those with higher proportion showing progress to attainment included: providing personal information (71%), learning about healthy foods (71%), learning to do household chores (90%), while those with smaller proportion showing progress to attainment included: asking my doctor questions (70%), finding medication list (73%), refilling prescriptions (88%), and swallowing whole pills (70%; Table 4).

**Table 4.** Skill level if "This is really important to me now." This corresponds to Table 3 about individuals with Down syndrome 13+ years in MGH DSP.


Note: grey highlight = more responses of minimal attainment; yellow highlight = more responses of moderate attainment.

When analyzing the percent of individuals of a certain age who had attained a given skill, we saw that individuals with DS gained skills into adulthood (Table 5). Through the lifespan range, half or more of patients could get dressed on their own. Many skills were able to be completed by half or more of the individuals age 40–49 years. Some skills were less often completed through the lifespan, such as refilling prescriptions and using public transportation.

**Table 5.** Independence skills attained by age group of 337 patients with Down syndrome age 13+ years in the MGH DSP.


Note: this section should be completed by or with the patient with Down syndrome. If a particular question does not apply to the patient, choose 'Not important'. Green ≥ 50% attained; Yellow = 25–49% attained; Red = 10–24% attained; Gray < 10% attained.
