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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