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Adjustment and intelligence among children with phenylketonuria in Sweden
G Lundstedt1, A Johansson, L Melin
1Department of Paediatrics, Karolinska Institute, Huddinge University Hospital, Stockholm, Sweden. gunilla.lundstedt@bup.sll.se
Insights
Children with phenylketonuria (PKU) show normal intelligence and adjustment when phenylalanine levels are managed. However, severe PKU may impact social competence, and teenagers may have higher phenylalanine levels.
Area of Science:
- Medical Science
- Pediatrics
- Genetics
Background:
- Phenylketonuria (PKU) is a rare genetic disorder requiring lifelong management.
- Early diagnosis and treatment are crucial for preventing developmental issues in children with PKU.
Purpose of the Study:
- To assess the treatment effects and developmental outcomes in Swedish children and youths with PKU.
- To evaluate intelligence, work capacity, social competence, and behavioral problems in PKU patients compared to a healthy reference group.
Main Methods:
- Survey of 8-19-year-old Swedish children and youths with PKU.
- Intelligence testing and questionnaire assessing work capacity, social competence, and internalizing/externalizing problems.
- Assessment of disease severity, early treatment, and blood phenylalanine levels.
Main Results:
- PKU patients demonstrated normal intelligence development.
- No significant differences were found between PKU patients and the reference group, except for fewer externalizing problems reported by PKU patients themselves.
- Patients with severe PKU showed reduced social competence compared to those with milder forms, as rated by patients and parents.
- Blood phenylalanine levels were generally within treatment norms, though higher in teenagers than younger patients.
Conclusions:
- Normal intelligence and adjustment are achievable for individuals with PKU when plasma phenylalanine levels are maintained within therapeutic guidelines.
- Disease severity influences social competence, highlighting the need for tailored management strategies.
Unlabelled:
In this investigation we present a recent survey of treatment effects among 8 to 19-y-old Swedish children and youths with phenylketonuria (PKU). The results from intelligence tests and a questionnaire comprising four scales, work capacity, social competence, and internalising and externalising problems, were used. Severity of disease, early treatment, and contemporary phenylalanine levels were assessed. The results showed that development of the patients' intelligence was normal. Adjustments were rated by the patients, their parents and their teachers, and the results were compared with those of a healthy reference group. The PKU patients did not differ from the reference group except for externalising problems judged by the children themselves. None of the patients with PKU showed signs of externalising problems in contrast to the reference group, where such behaviour was observed. Patients with severe PKU, however, showed less social competence compared with patients with a milder form of the disease, according to their own and their parents' ratings. Phenylalanine level in blood tests was in accordance with treatment norms, although the teenagers had higher levels of phenylalanine than the younger patients.
Conclusion:
Normal intelligence and adjustment is found among patients with PKU when plasma phenylalanine levels are within treatment norms.