Evaluation of primary health care nurses’ knowledge and neonatal screening performance for phenylketonuria in Alexandria

Phenylketonuria (PKU) is a rare inherited metabolic disorder in the phenylalanine (Phe) metabolism. It is caused by deficiency or absence of the phenylalanine hydroxylase enzyme. The normal function of phenylalanine hydroxylase is to catalyze the conversion of phenylalanine (Phe) to tyrosine (Tyr). This results in accumulation of abnormal amounts of Phe and reduction in Tyr in the blood [1]. The prevalence of PKU varies widely among ethnicities and geographic regions, affecting approximately 1 in 24,000 individuals worldwide. However, in the Middle East, some of the highest prevalence is in Egypt, Iran, and Jordan, where approximately 1:5,000 newborns are affected [2].

Phenylketonuria symptoms can manifest in varying degrees of severity. Infants diagnosed with PKU usually appear healthy at birth, with symptoms typically emerging around 6 months of age. If a child is untreated or inadequately treated, phenylalanine rises to toxic levels in the body especially in the brain causing infants to experience delays in motor skill development and exhibit lack of interest in their surroundings and subsequently significant neurodevelopmental sequelae including intellectual disability, mental retardation, seizures, learning disabilities, and emotional problems [3]. Phenylketonuria is diagnosed through performing serum Phe test between one and seven days after birth. Blood is obtained by pricking the heel of the newborn and analyzing it for phenylalanine concentration. Children with PKU need to keep Phe levels low. Therefore, keeping Phe levels between 120 and 360 μmol/L (2–6 mg/DL) for life is required [4].

Newborn screening plays a crucial role in identifying treatable disorders early, allowing for timely intervention and improved health outcomes. These screenings not only save lives but also enhance the quality of life for children and their families [5]. Worldwide, in most high-income countries, newborn screening generally exists as an efficient disease prevention system to reduce newborn morbidity and mortality. The Centers for Disease Control and Prevention (CDC) recognized newborn screening as one of the “Ten Great Public Health Achievements” during the first 10 years of the century. Furthermore, in 2015, the United Nations (UN) established 17 sustainable development goals. Newborn screening is one of the strategies to end preventable deaths of newborns and children under 5 years of age by 2030 in the third sustainable development goal [6]. In Egypt, 1996, the first newborn screening for metabolic disorders in Alexandria governorate took place through a study conducted by the Medical Research Institute where newborns were screened for three treatable inborn errors of metabolism which are phenylketonuria “PKU”, galactosemia and congenital hypothyroidism, aiming at early detection of these diseases and providing therapeutic regimens to guard against development of mental retardation. The results of this neonatal screening of 15,000 newborns showed a high frequency of Phenylketonuria (1:7000), and of hypothyroidism (1:3000), which convinced the health authorities in Egypt to start a mass neonatal screening program for PKU and hypothyroidism in all Egyptian governorates in 2003 [7, 8].

In 2023, an infographic showcasing the accomplishments of the President of the Republic’s program for early detection of genetic diseases in newborns was released by The Ministry of Health and Population on its official Facebook page. The screening is carried out by blood sample analysis in cooperation with the Egyptian Centre for Diseases and Control (ECDC), followed by a second test to confirm the diagnosis if the first comes back positive [9].

Dietary management and pharmacologic treatment are essential for infants with PKU. Pharmacological treatments such as enzyme replacement therapy through viral delivery of protein fusions targeting the liver as well as enzyme substitution therapy [10]. Dietary restriction of phenylalanine remains to be the mainstay of treatment for PKU. It should be instituted as soon as the diagnosis is confirmed and must be commenced from the neonatal period and adhered to for life [11]. The cornerstone for PKU dietary regimen is typically low in high protein [12, 13]. It also may include specially formulated medical foods and protein substitutes that are phenylalanine-free or low in phenylalanine [14, 15]. It is recommended that the child’s diet is well-planned to include a variety of fruits and vegetables to prevent micronutrient deficiencies commonly associated with restrictive diets [16]. Infants with PKU need a special formula that contain high protein and low phenylalanine. It can be used throughout life as a protein source that is extremely low in phenylalanine and balanced for the remaining essential amino acids [17].

Primary health care nurses play a crucial role in the primary prevention of PKU within national screening programs for newborns. This is achieved through consult with the child’s provider promptly to arrange a PKU test. Accurate collection of blood samples at maternal and child health centers enables early detection of potential cases. It is crucial for the nurse to be well-versed in obtaining accurate test results, ensuring that the baby has consumed protein from breast milk or formula before the blood sample is drawn [17]. In addition, nurses must adhere to neonatal screening procedure as improper heel-stick technique can damage the structures of the foot, including the calcaneus bone and soft tissues. In fact, some reports have documented difficulties walking later in life. It is safe to perform a heel stick if the puncture site is limited to the medial and lateral planter aspects of heel pad [18].

Nurses are at the forefront of identifying cases and providing essential health education on the disease and dietary requirements, as well as ensuring proper specimen recording and analysis. It is imperative for PHC nurses to have a comprehensive understanding of PKU disease, screening procedures, sampling techniques, and overall managing responsibilities within their respective centers and units.

Part of Egypt’s vision 2030 focuses on the rights of all Egyptians for healthy life with healthcare system capable of improving health conditions through early intervention, and preventive coverage. Nurses have many important roles in primary healthcare centers such as giving vaccination, assessing growth measurements, performing newborn screening test, and instructing parents about the benefit of early diagnoses in preventing complications of PKU. They play an important role in early detection through being competent in adherence to neonatal screening procedure. Early detection is the key to manage phenylketonuria as the infants appear healthy at birth, and if untreated or inadequately treated, infants may experience developmental delays and intellectual disabilities that can affect the children’s entire life, children’s families, and the community. Overall, research in this area plays a crucial role in ensuring that primary health care nurses are equipped with the necessary knowledge and skills to effectively contribute to neonatal screening programs, thereby improving outcomes for newborns and their families. So, the aim of this study is to evaluate the primary health care nurses’ knowledge and neonatal screening performance for phenylketonuria in Alexandria.

The aim of this study is to evaluate the primary health care nurses’ knowledge and neonatal screening performance for phenylketonuria.

A descriptive research design was used to accomplish this study.

Table 1 displays the distribution of the participant nurses according to their demographic characteristics. Concerning the number of nurses in family health centers; it was found that more than one quarter (28%) of participant nurses were from the El Agamy family health center followed by more than one fifth (22%) of nurses in El Hadra Qebli. Slightly less than one fifth (18%) of participant nurses were from Smouha and an equal percent of nurses (16%) were from Danna and Seyouf family health care centers.

Additionally, it was found that nearly half of participant nurses’ (48%) aged from 41 to 50 years old, with a mean age of 42.94 ± 5.0. Considering educational level, it was observed that 52% of participant nurses had completed their technical level of education and slightly more than two thirds of them (68.0%) had more than 15 years of experience with means experience years of 17.64 ± 4.84.

Regarding attending training courses about newborn screening program for Phenylketonuria. It was found that less than two-thirds (62%) of participant nurses attended training courses, and more than half of them obtained two training courses. Moreover, it was noticed that two days training course was reported by 51.6% of them.

Table 2 highlights the nurses’ knowledge regarding Phenylketonuria. It was revealed that, all participant nurses had correct knowledge about the definition, diagnosis, age of starting treatment, types of allowed foods, and time and Benefits of neonatal screening test. In addition, the majority had correct knowledge about degree of PKU severity, how long should the diet be used, types of allowed formula, giving breast milk, and available community services that support PKU children ( 82%, 84%, 84%, 94% & 94% respectively). On the other hands, the participant nurses had incorrect knowledge about blood level of PKU to be achieved during the treatment (88%), name of missing enzyme (74%) and management of PKU (62%). Moreover, it was clear from the table that the total mean score of nurses’ knowledge regarding Phenylketonuria screening was 16.24 ± 1.99 and the mean percent score was 72.72 ± 8.27.

Table 3 portrays the nurses’ screening performance for Phenylketonuria. It was revealed that, all participant nurses correctly performed the following steps: selection of puncture area, surface area to puncture, puncture heel at a 90-degree angle, seal blood containers, apply direct pressure on puncture site, label collection tubes and dispose of puncture device in sharps container. While the majority of them performed the following steps incorrectly: perform hand hygiene, administrate 25% sucrose’s, and remove gloves (90, 80, 84% respectively). In addition, all the participant nurses did not perform hand hygiene after screening test. It was clear from the table that the total score of nurses’ practice regarding Phenylketonuria was 11.0 ± 0.97 and the mean percent score of practice was 64.71 ± 5.70.

Table 4 illustrates the correlation between nurses’ knowledge and screening performance for Phenylketonuria. A significant positive correlation was found between nurses’ knowledge and practice (P < 0.001).

Table 5 presents the relationship between nurses’ knowledge and screening performance for phenylketonuria with their characteristics. The result revealed that there were highly statistically significant relationships between the total mean score of the nurses’ knowledge with their level of education, years of experiences and attending training courses with P value of < 0.001. Moreover, a highly statistically significant differences were found between mean score of nurses’ screening performance and their age, level of education, years of experiences and attending training courses with P value of < 0.001, 0.003, < 0.001 and < 0.001 respectively.

Table 6 displays the effect of nurses’ characteristics on knowledge and practice through multiple linear regression analysis. It was found that significant relationships were found between the units, level of education, attendance training courses, and their nurse’s knowledge (P = 0.044, 0.032, < 0.001, and 0.003, respectively). On the other hand, the same table found significant relationships between the attendance training courses and nurses’ practice (P = 0.045). 

Figure 2 shows that demographic characteristics have a direct significant effect on nurses’ knowledge and practice, and indirect significant effect on practice mediated by knowledge. Tables 7 and 8 show the direct and indirect effects of study variables on nurses’ knowledge and practices. It was found that there were direct and significant relationships between nurses’ knowledge and the unit, level of education, years of experience and attendance training courses (P = 0.029, 0.019, < 0.001, and < 0.001, respectively). Moreover, it was revealed that there were direct and significant relationships between nurses’ practice and their knowledge, and their attendance training courses (P = 0.033, and 0.027, respectively).

Phenylketonuria is a genetic condition caused by a defect in gene that helps produce the phenylalanine hydroxylase enzyme required for the breakdown of phenylalanine that results in rising levels of phenylalanine in blood and tissues. Elevating phenylalanine to dangerous levels in the body can lead to serious complications in children, especially mental retardation. Newborn screening identifies these children to start proper treatment and dietary management early which improves their quality of life [21].

The current study found that more than two-thirds of nurses attended training courses, and more than half of them obtained at least two training courses for two days of each course. This result could be related to the fact that continuous education and training programs established by the Ministry of Health and Population enhance nurses’ knowledge and practices. It is also reflected in the attention of decision-makers to train the nurses about the national neonatal screening program for their crucial role in obtaining the screening test and to counsel and educate the families about the importance of the screening and the targeted diseases.

The finding of the present study revealed that the nurses’ total mean score of knowledge regarding phenylketonuria was 16.24 ± 1.99 and the mean percent score of knowledge was 67.67 ± 8.27. These results might be related to the availability of educational training for nurses which updated knowledge regarding phenylketonuria screening. This result is congruent with the study findings of Jose & Manalo ,2023 [22] who found that providing pediatric residents with an educational module resulted in significantly improved knowledge of neonatal screening. The study also highlighted the necessity to continuously educate healthcare workers on all aspects of neonatal screening so that they can in turn educate parents. On the other side, the finding of Joseph, 2017 [23] who studied the newborn screening challenges for NICU nurses, reported that NICU nurses face several challenges with the expansion of newborn screening programs and gain knowledge to answer questions posed by empowered parents and educate them appropriately.

Regarding nurses’ practice toward the phenylketonuria screening test in this study, the nurses’ total score of practice regarding phenylketonuria was 11.0 ± 0.97 and the mean percent score of practice was 64.71 ± 5.70. The results revealed that all nurses correctly performed all participant nurses correctly performed a selection of puncture surface area, and heel at right angle, seal blood containers, apply direct pressure on puncture site, label collection tubes and dispose of puncture device correctly. These findings might be related to continue supervision and training courses for participant nurses that improved their performance in the steps of selection of a suitable site and withdrawal of a sample. Surprisingly, the majority of nurses did not perform the steps related to infection control correctly, such as performing hand hygiene before and after the screening test, cleaning the blue tray, and removing gloves, even though the hand hygiene facilities are available to all of them in all family health centers. This may be attributed to the overload of nurses with many neonates each day of screening, lack of knowledge about the importance of hand hygiene and limited doing it to the beginning and end of the day.

Moreover, the findings of the current study showed that most nurses had not performed correctly regarding administering 25% sucrose and providing comfort measures for pain management to the neonates. This may be attributed to the fact that nurses do not realize that screening procedures are painful procedures, and the neonates feel pain from them. The study finding of Khaton, 2016 [24] supports the current study and cites that only 16% of participant nurses know 9–13 steps of the PKU screening procedure correctly. On the other side, the study finding of Venegas et al., 2019 [25], who studied the barriers and facilitators to using pain treatment during newborn screening blood tests at a mother-baby unit, contradicts this study and cites that 53% of nurses used sucrose and 44% of them reported breastfeeding was supported in pain management.

The findings of the current study revealed that a significant positive correlation was detected between nurses’ knowledge and practice. This finding could be related to the fact that knowledge is needed to support the practice in addition to continuous training courses for participant nurses to improve nurses’ knowledge and practices. The study findings of Said & Draz, 2019 [26] were congruent with the present study and cited that there was a statistically significant positive correlation between total knowledge of the participant nurses and total practice towards the management of children with phenylketonuria.

In addition, the findings of the present study revealed that there were direct and significant relationships between nurses’ practice and their knowledge with their attendance training courses. This finding related to the fact that continuous education updated their nurses’ knowledge and improved their skills regarding neonatal screening performance for phenylketonuria. The study finding of Said & Draz, 2019 [26] was in the same line with the present study and cited that there is a positive statistical relationship between nurses’ knowledge and practice post-program implementation.

Furthermore, the results of this study found that the age of the participating nurses affected positively their knowledge and was statistically significant with their practice (P = 0.080 and < 0.001, respectively). Moreover, the results of the current study revealed that there were significant relationships between nurses’ knowledge and practices with their level of education (P = < 0.001, 0.003, respectively) and years of experience. These findings might be related to the fact that nurses’ age, their educational level, and years of experience were considered as factors affecting their knowledge and practice level during neonatal screening performance for phenylketonuria. The study findings of Khedr et al., 2022 [27] were consistent with the findings of the current study and mentioned that there was a statistically significant difference between the participant nurses’ total level of practice and their age, educational level, and years of experience.