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Table 4 Baseline Demographics and Clinical Characteristics among Patients with RTT, Overall and by Pediatric and Adult Patients

From: Epidemiology and patient journey of Rett syndrome in the United States: a real-world evidence study

Characteristics

Overall RTT cohort

Stratification by Age

Pediatric

(< 18 years of age)

Adult

(≥ 18 years of age)

N = 5,940

N = 3,078

N = 2,862

Demographicsa

 Age at index date, years, mean ± SD [median]

20.0 ± 14.5 [17.0]

9.2 ± 4.6 [9.0]

31.6 ± 12.5 [29.0]

  Pediatric, n (%)

  

–

   0–4

612 (10.3)

612 (19.9)

–

   5–10

1,194 (20.1)

1,194 (38.8)

–

   11–17

1,272 (21.4)

1,272 (41.3)

–

  Adult, n (%)

   18–29

1,513 (25.5)

–

1,513 (52.9)

   30–39

786 (13.2)

–

786 (27.5)

   40–49

316 (5.3)

–

316 (11.0)

    ≥ 50

247 (4.2)

–

247 (8.6)

 Region, n (%)

  South

2,051 (34.5)

1,155 (37.5)

896 (31.3)

  West

1,373 (23.1)

716 (23.3)

657 (23.0)

  Midwest

1,328 (22.4)

648 (21.1)

680 (23.8)

  Northeast

1,151 (19.4)

538 (17.5)

613 (21.4)

  Otherb

4 (0.1)

2 (0.1)

2 (0.1)

  Unknown/Unspecified

33 (0.6)

19 (0.6)

14 (0.5)

Insurance plan type at index date, n (%)

 Unknown/Unspecified Planc

1,658 (27.9)

998 (32.4)

660 (23.1)

 Medicaid

1,621 (27.3)

858 (27.9)

763 (26.7)

 Commercial

1,101 (18.5)

675 (21.9)

426 (14.9)

 Medicare/Medicaid Dual Eligible

895 (15.1)

528 (17.2)

367 (12.8)

 Medicare

665 (11.2)

19 (0.6)

646 (22.6)

Year of index date, n (%)

 2016

2,224 (37.4)

1,203 (39.1)

1,021 (35.7)

 2017

2,095 (35.3)

1,024 (33.3)

1,071 (37.4)

 2018

1,014 (17.1)

522 (17.0)

492 (17.2)

 2019

607 (10.2)

329 (10.7)

278 (9.7)

Quan-CCI,d,e mean ± SD [median]

0.1 ± 0.4 [0.0]

0.1 ± 0.3 [0.0]

0.1 ± 0.5 [0.0]

MECP2 genetic testing, d ,f n (%)

69 (1.2)

61 (2.0)

8 (0.3)

 Time from MECP2 genetic testing date to index date,g days, mean ± SD [median]

51.5 ± 46.0 [45.0]

57.2 ± 45.3 [53.0]

8.1 ± 23.0 [0.0]

 Rendering provider specialty, d, g ,h n (%)

  Unknown/missing

41 (59.4)

37 (60.7)

4 (50.0)

  Pediatrician/pediatric specialisti

16 (23.2)

14 (23.0)

2 (25.0)

  Genetics/pathology specialist

7 (10.1)

7 (11.5)

0 (0.0)

  Primary care

4 (5.8)

2 (3.3)

2 (25.0)

  Neurologist

1 (1.4)

1 (1.6)

0 (0.0)

Differential diagnosis of RTT, d n (%)

 Any differential diagnosis

963 (16.2)

613 (19.9)

350 (12.2)

  Autism spectrum disorder

367 (6.2)

269 (8.7)

98 (3.4)

  Cerebral palsy

413 (7.0)

171 (5.6)

242 (8.5)

  Non-specific developmental delay

321 (5.4)

284 (9.2)

37 (1.3)

  Angelman syndrome

2 (0.0)

2 (0.1)

0 (0.0)

  Other childhood disintegrative disorder

6 (0.1)

3 (0.1)

3 (0.1)

All-cause healthcare resource utilization,j–l PPM, mean ± SD [median]

3.01 ± 5.92 [0.94]

3.56 ± 6.34 [1.05]

2.46 ± 5.42 [0.85]

 By place of servicem

  Inpatient stay

0.08 ± 1.17 [0.00]

0.05 ± 0.93 [0.00]

0.10 ± 1.36 [0.00]

  ED visit

0.07 ± 0.68 [0.00]

0.07 ± 0.55 [0.00]

0.07 ± 0.78 [0.00]

  OP visit

0.79 ± 2.44 [0.00]

1.08 ± 2.83 [0.17]

0.50 ± 1.93 [0.00]

  Long-term care/skilled nursing facilities

0.02 ± 0.29 [0.00]

0.00 ± 0.02 [0.00]

0.03 ± 0.41 [0.00]

  Other place of servicen

0.88 ± 3.88 [0.00]

0.91 ± 4.05 [0.00]

0.85 ± 3.70 [0.00]

  Unknown place of serviceo

1.17 ± 3.73 [0.00]

1.44 ± 4.15 [0.00]

0.90 ± 3.23 [0.00]

   Home/hospice care

0.36 ± 2.55 [0.00]

0.44 ± 2.86 [0.00]

0.28 ± 2.18 [0.00]

   Therapeutic services visitp

0.32 ± 1.62 [0.00]

0.46 ± 1.85 [0.00]

0.18 ± 1.34 [0.00]

   Medical suppliesq

0.21 ± 1.10 [0.00]

0.18 ± 1.05 [0.00]

0.25 ± 1.16 [0.00]

   Durable medical equipment user

0.08 ± 0.76 [0.00]

0.10 ± 0.89 [0.00]

0.06 ± 0.60 [0.00]

   Others

0.22 ± 1.36 [0.00]

0.33 ± 1.70 [0.00]

0.10 ± 0.89 [0.00]

  1. Abbreviations: CPT Current Procedural Terminology, ED Emergency department, HCPCS Healthcare Common Procedure Coding System, OP Outpatient, PPM Per person-month, Quan-CCI Quan-Charlson comorbidity index, RTT Rett syndrome, SD Standard deviation
  2. aEvaluated on the index date (i.e., date of the first observed medical claim with a diagnosis of RTT)
  3. bIncludes Puerto Rico, Virgin Islands and Guam
  4. cIncludes medical claims associated with an unspecified plan, unknown third party, cash, claims processing, or missing
  5. dEvaluated on each distinct day during the baseline period and including the index date
  6. eReference: Quan, H., et al. (2005). Coding algorithms for defining comorbidities in ICD-9-CM and ICD-10 administrative data. Medical Care, 43(11): 1130–39
  7. fIdentified using CPT codes: 81,302–81,304, 0234U, 81,470, 81,471, 81,479
  8. gMECP2 genetic testing date was based on the medical claim associated with a procedure code for MECP2 genetic testing closest to the index date and including on the index date
  9. hBased on the specialty of the provider who rendered the service of medical claims associated with a procedure code for MECP2 genetic testing
  10. iPediatric specialist included child neurology, developmental/behavioral pediatrics, pediatric cardiology, pediatric endocrinology, pediatric gastroenterology, and pediatric radiology
  11. jAmong patients with multiple types of visits on the same day, inpatient stays were prioritized over all other types of visits, followed by ED visits, OP visits, long-term care/skilled nursing facilities, other places of service, and unknown place of service
  12. kConsecutive days of inpatient stays, ED visits, or long-term care visits were considered one visit
  13. lEvaluated on each distinct day during the baseline period, not including the index date, among patients with ≥ 1 day of clinical activity prior to the index date (N = 4,399)
  14. mPlace of service was defined by the place associated with each medical claim for which a patient sought healthcare services
  15. nOther places of service included home/hospice, independent laboratory, hospital laboratory services provided to non-patients, ambulance, telehealth, and more
  16. oUnknown places of service included medical claims associated with other places of service or unassigned places of service. Procedure codes associated with each medical claim were used to define the type of visit
  17. pTherapeutic services visit included physical therapy, hydrotherapy, occupational therapy, speech therapy, and feeding assistance
  18. qDefined as any medical claim with a procedure code for medical supplies. Medical supplies were identified using the following HCPCS procedure codes: A4xxx–A9xxx and T4xxx–T5xxx
  19. rDefined as visits that include at least one medical claim with a procedure code for DME. DME was identified using the following HCPCS procedure codes: E0xxx–E8xxx
  20. sDefined as any medical claims with a procedure code not captured under home/hospice care, therapeutic services, medical supplies, or durable medical equipment. Commonly observed procedure codes included educational habilitation, therapeutic behavioral services, adaptive behavior therapy by protocol, community-based wrap-around services, and day habilitation waiver
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BMC Neurology

ISSN: 1471-2377

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