European Journal of Pediatrics

, Volume 155, Supplement 1, pp S101–S104 | Cite as

Psychosocial aspects in phenylketonuria

  • J. Weglage
  • B. Flinders
  • K. Ullrich
  • A. Rupp
  • E. Schmidt


Psychosocial aspects in phenylketonuric (PKU) patients are reported. In two separate studies patients with PKU differing in age (children versus adolescents), were assessed. The main message of the first prospective study on 58 10-year-old patients is that normally intelligent PKU patients who were treated early and strictly did not show a higher risk for severe emotional and behavioural maladjustment compared with healthy controls at the age of 10 years. The data were obtained in the course of the German PKU Collaborative Study by the “Personality Questionnaire for Children (PFK 9–14)”. All patients received nutritional, medical, and psychological counselling every 6 months. In the second retrospective study, 34 early treated, normally intelligent adolescents with PKU (age: mean=14.6, SD=2.0, range=11–18 years) and their mothers were assessed with several psychometric personality inventories and self-developed questionnaires concerning their psychosocial situation and their disease- and diet-specific knowledge. Using the Mannheimer Biographic Inventory (MBI), the Personality Questionnaire for Children (PFK 9–14), and the Freiburger Personality Inventory (FPI) the adolescent patients described their social life and their emotional development as being distinctly restricted. Their knowledge concerning disease and diet was alarmingly poor and the majority had great difficulties in satisfactory dietetic management without parental help. In addition to the burdensome diet, developmental crises like puberty may cause more frequently emotional and behavioural problems in PKU patients.

Key words

Phenylketonuria Psychological characteristics Social findings 



Freiburger Personality Inventory — revised


Mannheimer Biographic Inventory

PFK (9–14)

Personality questionnaire for children






  1. 1.
    Burgard P, Armbruster M, Schmidt E, Rupp A (1994) Psychopathology of patients treated early for phenylketonuria (PKU) — results of the German Collaborative Study of Phenylketonuria. Acta Paediatr [Suppl] 407: 108–110CrossRefGoogle Scholar
  2. 2.
    Deutsche Arbeitsgemeinschaft für Pädiatrische Stoffwechselerkrankungen (1990) Diätetische Behandlung der Phenylketonurie. Monatsschr Kinderheilkd 136: 636Google Scholar
  3. 3.
    Fahrenberg J, Hampel R, Selg H (1983) Das Freiburger Persönlichkeits-Inventar (FPI-R), Verlag für Psychologie, Dr CH Hogrefe, GöttingenGoogle Scholar
  4. 4.
    Jäger R, Berbig E, Geisel B, Gosslar H, Hagen J, Liebich W, Schafheutle R (1973) Mannheimer Biographisches Inventar (MBI), Verlag für Psychologie, Dr HJ Hogrefe, GöttingenGoogle Scholar
  5. 5.
    Realmuto G, Garfinkel BD, Tuchmann M, Tsai MT, Chang PN, Fisch RO, Sharpio S (1986) Psychiatric diagnosis and behavioral characteristics of phenylketonurie children. J Nerv Ment Dis 174: 536–540PubMedCrossRefGoogle Scholar
  6. 6.
    Seitz W, Rausche A (1992) Persönlichkeitsfragebogen für Kinder (PFK 9–14). Westermann-Verlag, BraunschweigGoogle Scholar
  7. 7.
    Smith I, Beasly MG, Wolff OH, Ades AE (1988) Behaviour disturbances in 8-year-old children with early treated phenylketonuria. J Pediatr 112: 403–408PubMedCrossRefGoogle Scholar
  8. 8.
    Weglage J, Fünders B, Wilken B, Schubert D, Schmidt E, Burgard P, Ullrich K (1992) Psychological and social findings in adolescents with phenylketonuria. Eur J Pediatr 151: 522–525PubMedCrossRefGoogle Scholar
  9. 9.
    Weglage J, Rupp A, Schmidt E (1994) Personality characteristics in patients with phenylketonuria treated early. Pediatr Res 35: 611–613PubMedCrossRefGoogle Scholar
  10. 10.
    Wood AC, Friedmann CJ, Steisel IM (1967) Psychological factors in phenylketonuria. Am J Orthopsychiatry 37: 671–679PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • J. Weglage
    • 1
  • B. Flinders
    • 1
  • K. Ullrich
    • 1
  • A. Rupp
    • 2
  • E. Schmidt
    • 2
  1. 1.UniversitätskinderklinikMünsterGermany
  2. 2.Department of PaediatricsUniversity of HeidelbergHeidelbergGermany

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