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Table 1 Study characteristics of the included studies

From: Cognitive functioning in patients with classical galactosemia: a systematic review

Author (year) Study design N [P]/[C] Mean age y:mo (range) Gender Criteria for diagnosis Age of diagnosis /start of diet Genetic mutation (N) Clinical outcome (N) Psychiatric symptoms (N)
Antshel et al. (2004) [19] Case Control 25 / 20 10:9 (8–14) 10 females, 15 males Confirmed by genetic analysis NR / first week of life Q188R/Q188R (25) Special education (14) IQ: 84.3 (SD = 8.3) CDI: z = 0.14 (SD = 0.04) ADHD (4): no medication
24 h before NPA
Doyle et al. (2010) [21] Cross-sectional 28 29:3 (15–53) 20 females, 8 males Confirmed by very low GALT-activity in leucocytes Neonatally / NRa NI IQ: 88.9 (SD = 16.8) No psychiatric disorders.
Hoffmann et al. (2011) [22] Cross-sectional 32 21:2 (9:9–37:4) 12 females, 20 males Confirmed by GALT activity < 2% and genetic analysis NR / NR NR IQ: 76.2 (SD = 14.8) NR
Iakovou et al. (2018) [26] Case Report 1 4 1 male Confirmed by absent GALT activity Neonatally/ Neonatally NI IQ: 115 (age of 19) NR
Kaufman et al. (1995) [23] Cross-sectional 45 4:0–39 22 females, 23 males Confirmed by absence of GALT activity Neonatally or in infancy / Neonatally or in infancy NI Tremor, ataxia and dysmetria (12) NR
Lewis et al. (2012) [25] Case series 4 7:77:88:59:2 3 females, 1 male Confirmed by GALT activity
<  1.3 units/ml blood and genetic analysis
5 days /
5 days (3) or birth (1)
Q188R/Q188R (4) IQ: 118 IQ: 67 IQ: 60IQ: 73 NR
Lewis
et al. (2013) [20]
Case Control 1 / 3 5:7 1 male Confirmed by genetic analysis 6 days /
6 days
Q188R/Q188R IQ: within average range NR
Lewis
et al. (2013) [27]
Case Report 1 2:1 1 female Confirmed by GALT activity < 0.01 U/g Hb and genetic analysis 7 days /
7 days
Q188R/Q188R Learning disabled IQ = 60 NR
Ng et al. (2003) [28] Case Report 1 8 1 female Confirmed by GALT activity (0.1–0.3%) and genetic analysis ± 2–3 weeks / ± 2–3 weeks Q133R/other IQ: 123 Normal ovarian function later in life NR
Van Erven et al. (2017) [24] Cross-sectional 12 17:4 (14:6–21:1) 9 females, 3 males Confirmed by GALT activity (0.55%) and/or genetic analysis. NR / Mean of 11 days (range: 0–35) Q188R/Q188R (5)
Q188R/other (1)
L195P/K229 N (3)
W134 fs/unknown (2)
Unknown (1)
Special education (9) NR
Waisbren et al. (2012) [15] Cross-sectional 27 29:10 (18–51) 13 females, 14 males Confirmed by absence of GALT activity and genetic analysis. Mean of 12 days (range: 1–42)/NR Q188R/Q188R (12)
Q188R/other (12)
K285 N/L195P (1)
K127Q/deletion (1)
Deletion/deletion (1)
IQ: 89.4
(SD = 19.5)
Tremor (11)
Ataxia (3)
Dysarthria (6)
Apraxia (2)
Depression (10) Anxiety (20)
  1. Notes. N sample size, P patient group, C control group, NBS Newborn Screening, NR not reported, IQ Total Intelligence Quotient, SD standard deviation, CDI Children Depression Inventory, z z-score, ADHD Attention deficit hyperactivity disorder, NPA Neuropsychological Assessment, NI not investigated
  2. aThe diet of one patient was relaxed from the age of three years old onward