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 |