Author, year(origin) | Metabolic disease | N* | Reviewed sample vs. originally reported sample | Mean age in years (range) | Group of comparison | Assessment instrument(report) | Selected results** (IT-IEM related to group of comparison) |
---|---|---|---|---|---|---|---|
Beauchamp et al., 2009 (Australia)[25] | GA I | 4 | Same | 5.8 (5 to 7) | Population norms | • CBCL (proxy-mother) | • Psychological adjustment (CBCL): No sign. group difference, except for CBCL total scale, where IT-IEM patients show less behavioural problems than the norm population (doubt about reliability of this result) |
• ABAS (proxy-mother) | • Adaptive functioning (ABAS): No sign. group difference | ||||||
Cazzorla et al., 2012 (Italy)[22] | OTCD, HHH Syndrome, ASA, GA I, MMA, MSUD | 15 | Reviewed sample: only IT-IEM Orig. sample: IT-IEM mixed with other diseases (N = 82) | 25.6 (17 to 44) | Population norms, other IEM-groups: PKU, Morbus Fabry, pharmacological treatment | • WHOQOL-100 (self) | • QoL (WHOQOL-100): Compared to population norms: sign. higher QoL for physical domain, lower for environmental domain, no sign. group difference for all other domains |
• QoL (WHOQOL-100): Compared to other IEM: no sign. group difference compared to PKU for all domains, sign. higher compared to Morbus Fabry and pharmacologically treated patients in most domains (no sign. group difference for social and environmental domains) | |||||||
Eminoglu et al., 2013 (Turkey)[23] | MA, PA, MSUD (group includes n = 3 patients with a disease not being an IT-IEM) | 14 | Reviewed sample: separately reported subgroup, mainly IT-IEM, 3 other IEM Orig. sample: IT-IEM mixed with other IEM (N = 68) | 4.7 (n.a., SD = 4.3) | Population norms, other IEM-groups: CMD and AMD | • Questionnaire constructed by authors: QoL Scale for Metabolic Diseases (proxy-parent) | • HrQoL (QoL Scale for Metabolic Diseases): Sign. lower compared to CMD and AMD for school status and health perception domains, sign. lower in physical function domain compared to AMD, similar for other domains |
• Kiddy-, Kid- Kiddo-KINDL (proxy-parent, self if > = 4 years) | • HrQoL (KINDL): No sign. group difference compared to CMD and AMD for emotional wellbeing domain | ||||||
Gramer et al., 2013 (Germany)[19] | ASLD, GA I, IVA, PA, MSUD | 34 | Reviewed sample: only IT-IEM Orig. sample: IT-IEM mixed with other IEM (N = 187) | 4 (1.2 to 9.7) | None | Questionnaire constructed by authors, assessing: | Â |
• Perceived burden for the child (proxy-parent) | • Psychological adjustment (Perceived burden for the child): Rated as low for the majority (50%) | ||||||
• Social behavior (proxy-parent) | • Psychological adjustment (Social behaviour): Rated average for the majority (82%) | ||||||
Grünert et al., 2013 (Germany)[26] | PA | 48 | Same | 5 (5 days to 19) | Population norms | • Kid-KINDL (self): n = 18 | • HrQoL (KINDL): Sign. lower HrQoL for psychological and friends domain, sign. higher for school domain, no group difference for other domains |
• For Kid-Kindl: 11 (5 to 18) |  | • SDQ (proxy-parent): n = 48 | • Psychological adjustment (SDQ): More problems in all scales except conduct problems | ||||
• For SDQ: 4 (1 to 18) |  | n according to age or degree of mental retardation |  | ||||
Krivitzky et al., 2009 (USA)[27] | UCD | 92 | Same | 7.2 (0.4 to 16.75) | Population norms | • ABAS (proxy-parent): all ages | • Adaptive functioning (ABAS): General score was sign. lower for all IT-IEM groups (neonatal onset, late onset, patients with/without hyperammonemic history) in the age group of 3-16 years |
• Adaptive functioning (ABAS): General score was sign. lower for the IT-IEM patients with a hyperammonemic history, not for the other subgroups, in the age group of < 3 years. | |||||||
• CBCL (proxy-parent): for ages 3-16 | • Psychological adjustment (CBCL): No sign. group difference in internalising and externalising problems | ||||||
Mazariegos et al., 2012 (USA)[20] | MSUD | 31 | Reviewed sample: Patients with results for adaptive functioning Orig. sample: Patients with and without results for adaptive functioning (N = 35) | 9.9 (1.7 to 32.1) (for N = 35) | Population norms | • ABAS (self) or Vineland (self) (for this review: only pre-transplantation assessment) | • Adaptive functioning (ABAS or Vineland): Sign. lower score for adaptive functioning |
• Risk factor assessment: Sign positive correlation between IQ and adaptive functioning | |||||||
• Risk factor assessment: No sign. correlation between adaptive test scores and age at diagnosis, number of preceding metabolic crises, number of hospitalizations, age at transplantation | |||||||
Muelly et al., 2013 (USA)[24] | MSUD | 26 | Reviewed sample: IT-IEM patients on diet, not liver-transplanted Orig. sample: IT-IEM patients on diet and IT-IEM after liver transplantation (N = 37) | • For MSUD diet n = 26: n.a., Mdn = 19.5 (7 to 35) | Healthy control group (mostly siblings of MSUD-patients) | • SCID (adult or childhood version) for DSM-IV: depression, anxiety, ADHD, global, social, occupational and psychological functioning (self) | • Psychological adjustment (Severity of depression and Anxiety, BDI, BAI, BYI): No sign. group difference |
 | • Psychological adjustment (Current and lifetime depression and anxiety, SCID for DSM-IV): Sign. more lifetime depression and anxiety | ||||||
• For controls n = 26: n.a., Mdn = 15.9 (6 to 35) |  | • BDI and BAI or sub-scores of the BYI of emotional and social impairment (self) | • Risk factor assessment: Patients who remained asymptomatic throughout newborn period vs. patients who were encephalopathic at the time of diagnosis: Second group has higher risk to later suffer from anxiety (5x higher) and from depression (10x higher) | ||||
• Risk factor assessment: Correlation of mood disturbances with some biochemical parameters. No strong correlation of depression and anxiety with indices of lifetime metabolic control | |||||||
Packman et al., 2007 (USA)[28] | MSUD | 55 | Same | 11 (5 to 18) | Population norms | • PedsQL (self, proxy-parent) | • HrQoL (PedsQL): Total HrQoL score and domains are closer to cancer sample norms than to healthy sample norms |
• BASC (proxy-parent, proxy-teacher) | • Psychological adjustment and adaptive functioning (BASC): Mostly no sign. group difference. Sign. more problems in some areas, sign. lower scores in adaptive skills (parent- and teacher-rating) | ||||||
• Self- vs. proxy-rating: HrQoL self-report > proxy-report for physical, emotional, social domain, no difference for school function | |||||||
• Self- vs. proxy-rating: Behavioural adjustment proxy parent- vs. proxy teacher-report: parent < teacher for internalising problems (somatization, anxiety) | |||||||
Pohorecka et al., 2012 (Poland)[29] | TYR I | 8 | Same | 11 (6 to 15) | Population norms | • CBCL (proxy-parent) | • Psychological adjustment (CBCL): Sign. more problems in several scales |
Simons et al., 2006 (Belgium)[21] | OTCD, GA III, MMA | 11 | Reviewed sample: only IT-IEM Orig. sample: IT-IEM mixed with other IEM (N = 53) | n.a. (0-2 to 16) (for N = 53) | Population norms | • CBCL, TRF, YSR (proxy-parent, proxy-teacher, self if child > 11 years old) | • Psychological adjustment (CBCL): No sign. group difference |
• K-SADS for DSM-IV diagnosis (self) | • Psychological adjustment (K-SADS for DSM-IV): Psychiatric diagnoses in n = 2, but scale was not applied to the whole sample |