G. Cotugno

Adherence to diet and quality of life in patients with phenylketonuria.

Aim:  To investigate adherence to dietary treatment and quality of life (QoL) in patients with phenylketonuria (PKU).

Living with phenylketonuria from the point of view of children, adolescents, and young adults: a qualitative study.

Objective: To explore the experiences of patients affected by phenylketonuria, a genetic metabolic disease currently screened during the neonatal period, in whom treatment was begun shortly after birth. Dietary treatment of the metabolic abnormality can prevent effects on the central nervous system through infancy, adolescence, and adulthood, but the associated challenges for personal and social life, such as everyday problems of adherence to a strict regimen, have been inadequately studied. Method: A qualitative study was performed using semistructured interviews involving 20 patients aged between 8 and 23 years and referred to a pediatric hospital for phenylketonuria. A thematic framework was formulated in advance which identified the main issues to be investigated, and a list of questions was devised. The interviews were audiotaped and were all transcribed and analyzed by 3 investigators with the support of NVivo software. Results: Patients showed a fair knowledge of their condition but did not feel that they were truly ill. However, they adhered to their treatment regimen although they perceived no direct, immediate, adverse effects of their disease. A long-standing habit of following a demanding diet from infancy emerged from the interviews. A major problem for these patients is the difference perceived when comparing themselves with their peers, and the fear of stigmatization can prevent patients from participating in social occasions during which food is shared. One coping strategy patients may use is to disclose their condition to peers to overcome isolation. Conclusions: The impact of long-standing, demanding health behaviors on the social life of patients affected by a chronic metabolic disease must be recognized, taking into particular consideration both social functioning and adherence to dietary treatment.

Cognitive findings and behavior in children and adolescents with phenylketonuria.

Objective: The primary aim of this study was to assess cognitive development, in particular that of executive functions (EFs), and behavioral findings for patients with early treated phenylketonuria (PKU). Furthermore, we evaluated the relationships of our findings with plasma levels of Phe and adherence to dietary prescriptions. Methods: A cross-sectional design was adopted. Patients who had early treated PKU, who were older than 4 years, and who were regularly seen by a physician were enrolled in the study. Cognitive development was assessed with Wechsler Scales appropriate to the chronological age of subjects in the study. Executive functions were assessed using the Tower of London test, and behavioral findings were quantified with the Child Behavior Checklist. Results: Thirty-five patients were enrolled (mean age 11.5 years, SD ± 6.2). The mean Full Scale intelligence quotient was in the normal range (93.4 ± 17.4), without significant difference between the verbal intelligence quotient (mean, 94.3 ± 16.1) and performance intelligence quotient (mean, 93.9 ± 18.0). The majority of patients showed a deficit within the EF domain of cognitive abilities (mean lower than 1.8 SD of the normal mean), 8 of them showing a score <2 SD lower than the normal mean. Internalizing problems were also observed in 12 patients (38.7%) and were higher in adherent patients and in patients with a lower intelligence quotient. Conclusion: After early diagnosis and treatment of PKU, residual problems can be found in EFs of patients not achieving satisfactory Phe levels, while scores of internalizing behaviors were higher in compliant patients.

Fruit-Induced FPIES Masquerading as Hereditary Fructose Intolerance

Hereditary fructose intolerance (HFI) symptoms develop at first introduction of fruit during weaning. We report on an infant with suspected HFI who presented with repeated episodes of vomiting and hypotension after ingestion of fruit-containing meals. The first episode occurred at age 4 months. Despite negative genetic testing for HFI, strict avoidance of fruit ingestion resulted in lack of recurrence of symptoms. Oral-fructose-tolerance testing conducted with an apple mousse did not determine hypoglycemia or fructosuria but caused severe hypotension. Allergy evaluations were negative, and the history was diagnostic for fruit-induced food protein–induced enterocolitis syndrome. Because this non-immunoglobulin E–mediated gastrointestinal food hypersensitivity manifests as profuse, repetitive vomiting, often with diarrhea, leading to acute dehydration and lethargy, it may be misinterpreted as HFI. We advise pediatricians to consider food protein–induced enterocolitis syndrome in the differential diagnosis when there is a suspicion of HFI.