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Table 1 Adult CHD patient demographics

From: The neuropsychological phenotype of Chediak-Higashi disease

Patient ID Age at initial visit LYST variants CHD diagnosis Transplant (age at transplant) Psychotropic Medications
 CHD-19* 17 p.R1104X
p.G3408R
Atypical No None
 CHD-27 21 Unknown
Unknown
Classic Yes (3 years) None
 CHD-26 21 p.R503X
p.G3309S
Atypical No None
 CHD-18* 22 p.R1104X
p.G3408R
Atypical No None
 CHD-35 22 p.E489DfsX78
p.E489DfsX78
Classic Yes (6 months) None
 CHD-24† 23 p.A1454D
p.Y1687X
Atypical No None
 CHD-23† 26 p.A1454D
p.Y1687X
Atypical No None
 CHD-17 28 p.L1425YfsX1
p.E2810K
Atypical No None
 CHD-5 28 p.V2651F
Unknown
Atypical No Lithium, Lamictal, Zoloft (off Lithium by second visit)
 CHD-30 29 Unknown
Unknown
Classic Yes (10 years) None
 CHD-20 31 p.R1104X
p.R1104X
Classic No None
 CHD-31# 33 p.N3276_T3277del
p.N3276_T3277del
Atypical No None
 CHD-33# 38 p.N3276_T3277del
p.N3276_T3277del
Atypical No None
 CHD-32# 43 p.N3276_T3277del
p.N3276_T3277del
Atypical No None
Patient ID Available Prior Evaluation Results Prior Neuropsychological Diagnoses Assistance in school Initial Visit Occupation Current Occupation
 CHD-19* Est. FSIQ = 78
(at 9 yrs. 7 mos)
Diagnosed ADHD IEP grades 2–7; special education courses Student Unemployed
 CHD-27 None Diagnosed learning disability IEP grades K-12; special education courses; repeated kindergarten Community College student Day care provider
 CHD-26 None Diagnosed learning disability IEP; special education courses Unemployed Unemployed
 CHD-18* Est. FSIQ = 101
(at 6 yrs. 6 mos)
Diagnosed ADHD Unknown Department store warehouse worker Unemployed
 CHD-35 None Diagnosed learning disability IEP grades 2–12 Odd jobs for family members Odd jobs for family members
 CHD-24† None Diagnosed reading disorder and ADD IEP grades 3–12 Cleaning and maintenance work Unemployed
 CHD-23† None None None reported Food service and janitorial position Unemployed
 CHD-17 None None Special education courses Unemployed Unemployed
 CHD-5 None None IEP grades 9–12 Nursing assistant Unemployed
 CHD-30 Est. FSIQ = 75
(at 18 yrs)
Diagnosed learning disability; borderline ADHD No special accommodations; private tutoring Cashier at family business Unemployed
 CHD-20 None Diagnosed learning disability Unknown Unemployed Deceased
 CHD-31# None None reported Unknown IT Unemployed
 CHD-33# None Diagnosed learning disability and ADHD None reported Office support staff Unemployed
 CHD-32# None Diagnosed learning disability; ADHD Special tutoring in school prior to age 7 Unemployed Unemployed
  1. Superscripts indicate sibling sets