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Table 1 Demographics and clinical features

From: Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder

 

DSRD (n= 72)

DS (n= 1217)

p value

95%CI

Sex

 Male

 Female

35 (49%)

37 (51%)

578 (47.5%)

638 (52.5%)

0.85

0.80–1.31

Race

 Caucasian

 Asian

 Black

55 (76%)

10 (14%)

7 (10%)

1058 (87%)

109 (9%)

49 (4%)

0.06

0.15

0.22

0.77–1.01

0.85–2.83

0.13–5.14

Hispanic ethnicity

51 (71%)

370 (35%)

< 0.001

1.96–2.76

Medical history

 Obstructive sleep apnea (n= 70)

 Congenital heart disease

 Autoimmune disease (any)

 Thyroid disease

35 (50%)

38 (53%)

33 (46%)

25 (34%)

523 (43%)

548 (45%)

426 (35%)

182 (15%)

0.22

0.12

0.02

< 0.001

0.91–1.48

0.96–1.51

1.04–1.75

1.64–3.27

Age at onset (median, IQR)

14 (12–17)

11 (7–15)a

< 0.001

1.05–3.55

Preceding trigger

 Infectionb

 Change in school/work/home environment

 Loss of family/caregiver/friend

 Change in residence

 Abuse

 Death in immediate social network

 Medical change

37 (51%)

16 (43%)

10 (27%)

4 (10%)

2 (5%)

2 (5%)

2 (5%)

1 (3%)

 

Months to symptom peak (median, IQR)

3 (1–6)

 

Clinical symptoms

 Social withdrawal

 Loss of acquired skills

 New autistic features

 Diminished eye contact

 Apathy (n = 70)

 Impaired attention

 Anxiety

 Mutism/expressive language regression

 Insomnia

 Anorexia

 Whispered speech

 Confusion/disorganization

 Memory impairment

 Catatonia

 Freezing/bradykinesia

 Abulia/avolition (n = 71)

 Emotional lability (n = 61)

 Stereotypy

 Urinary retention

 Incontinence (urine/feces)

 Inappropriate/mirthless laughter (n = 65)

 Circadian rhythm alteration

 New obsessive-compulsive tendencies

 Tics (n = 69)

 Aggression/agitation (n = 71)

 Hyperactivity

 Autonomic dysfunction (n = 58)

 Persistent focal neurologic deficits

 Seizure (n = 71)

 Transient neurologic deficits/TIA

72 (100%)

72 (100%)

72 (100%)

69 (96%)

66 (94%)

64 (89%)

62 (86%)

59 (82%)

58 (81%)

56 (78%)

56 (78%)

55 (76%)

55 (76%)

55 (76%)

52 (72%)

46 (65%)

37 (61%)

38 (53%)

38 (53%)

36 (50%)

34 (52%)

26 (36%)

24 (33%)

19 (28%)

19 (27%)

11 (15%)

8 (13%)

3 (4%)

1 (1%)

1 (1%)

 
  1. CI confidence interval, DS Down syndrome, DSRD Down syndrome regression disorder, IQR interquartile range, TIA transient ischemic attack
  2. aAge at data collection
  3. bAny non-life-threatening bacterial or viral infection (e.g., upper respiratory tract infection, urinary tract infection, or pneumonia)