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Table 1 Main issues influencing the neurocognitive, psychopathological, and neurological assessment of PKU patients

From: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria

Pediatric patient

Adolescent patient

Adult patient

Availability of a proper care setting

Availability of a proper care setting

Discontinuity of the doctor-patient relationship (inadequate periodicity of visits)

Patient availability

Patient availability

Lack of appropriate staff

Patient motivation for assessment

Patient motivation for assessment

Availability of patients to the assessment

Psychologist not always available at the time of the visit to the centers

Psychologist not always available at the time of the visit to the centers

Work commitments

Long evaluation times

Long evaluation times

Fear of the consequences of evaluations

Need to schedule several meetings

Need to schedule several meetings

Lack of risk perception

Patient's attentional time

Patient's attentional time

 

Patient’s motivation for assessment

Patient’s motivation for assessment

 

Difficulty by the patient to sustain the assessment

Difficulty by the patient to sustain the assessment

 

Lack of parental awareness

Lack of parental awareness

 

Fear of the family of the result

Fear of the family of the result

 

Need to establish a good relationship with the family

Need to establish a good relationship with the patient

 
 

Need to establish a good relationship with the patient at a delicate time of transition to adulthood

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