Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers

Figures & data

Table 1. Demographic characteristics of patients with PKU, as reported by both patients and caregivers.

	All survey completers N = 241^a n (%)	Patients n = 85^a n (%)	Caregivers n = 156^a n (%)
Sex
Male	105 (43.6)	30 (34.9)	75 (48.4)
Female	134 (55.6)	55 (65.1)	79 (50.3)
Other	2 (0.8)	–	2 (1.3)
Highest education level achieved (by patient)	n = 238		n = 153
High-school diploma	63 (26.5)	45 (52.9)	18 (11.8)
Preschool age	84 (35.3)	2 (2.4)	82 (53.6)
Marital status of patients	n = 232	n = 83	n = 149
Single	25 (10.8)	9 (1.1)	16 (10.7)
Married	16 (31.7)	7 (0.8)	11 (7.4)
Employment status of patient with PKU	n = 214	n = 84	n = 130
Employed	87 (40.7)	54 (64.3)	33 (25.4)
Student	95 (44.4)	18 (21.4)	77 (59.2)
Not in paid employment^b	32 (15.0)	12 (14.3)	20 (15.4)

Abbreviation. PKU, phenylketonuria.

^aUnless otherwise indicated.

^bHomemaker, retired, unemployed or invalid.

Figure 1. Patient and caregiver knowledge of phenylketonuria (PKU). More than one response was possible.

Figure 2. Knowledge of the effects of high levels of phenylalanine (Phe) in the blood.

Figure 3. Mean score for the impact of phenylketonuria (PKU) on daily life, using a scale from 1 to 10 where 1 = no impact at all and 10 = definitely impacts.

Table 2. Symptoms of phenylketonuria that patients experience, according to patients and caregivers.

%	Patients n = 85	Caregivers n = 156
Agitation, anxiety	48.8	18.6
Fatigue	41.1	14.6
Mood disorders	39.8	25.0
Difficulty in concentration	33.4	27.4
Memory difficulties	32.1	12.1
Headache	30.8	14.6
Aggression, irritability	24.4	24.2
Tremor	21.8	5.6
Stomach pain	15.4	9.7
Neurological symptoms	3.9	6.4
Mental retardation	2.6	5.6
Psychiatric disorders	2.6	4.8

Figure 4. Ability of patients with phenylketonuria (PKU) to strictly follow a low-phenylalanine (Phe) diet.

Figure 5. Patient and caregiver opinions on the needs of patients with phenylketonuria (PKU). Abbreviation. Phe, phenylalanine.

Figure 6. Informational needs of patients with phenylketonuria (PKU) and their caregivers.

Figure 7. Patient and caregiver knowledge of available therapies for phenylketonuria. Abbreviation. Phe, phenylalanine.

Figure 8. Patient and caregiver interest in enzyme replacement therapy to treat phenylketonuria (PKU).

D ata availability statement

The datasets used and/or analyzed during the current study are not available.