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New invasive species were identified and management approaches recommended. Cropping systems range from small-scale multi-crop hobby farms to some of the largest vegetable farms in the NE US, and include processing and fresh market vegetables and conventional and organic approaches. Ohio vegetable crops are vulnerable to hundreds of economically damaging diseases, many of which are difficult to diagnose in the field, and require laboratory testing.

Accurate diagnosis of vegetable diseases is the first step in effective disease management. Further, new and emerging diseases present additional diagnostic challenges. Onion anthracnose was widespread over 75 acres of commercial bulb onions, weakening the plants and reducing yields.

In some cases, food poisoning leads to serious complications, such as dehydration. Common symptoms of many types of food poisoning include diarrhea or bloody diarrhea, vomiting, pain in your abdomen, fever, and headache. Infections with viruses, bacteria, and parasites cause most food poisoning. Harmful chemicals also cause some cases of food poisoning. Doctors often diagnose food poisoning based on your symptoms.

In some cases, a medical history, a physical exam, stool tests, and blood tests can help diagnose food poisoning. In most cases, you can treat food poisoning by replacing lost fluids and electrolytes to prevent dehydration. These guidelines are intended to be used by metabolic physicians, dieticians, obstetricians, midwives, psychologists, social workers, biochemists and other professionals involved in the treatment of patients with PKU due to PAH deficiency.

The scientific advisory committee of the ESPKU was asked to invite a group of European PKU experts based on their expertise and experience rather than their nationality. Nineteen were invited; 1 declined and 1 resigned for personal reasons. The 17 remaining professionals were divided into 5 working groups and supported by a project lead F. Working group members included 8 paediatric metabolic physicians, an adult metabolic physician, 2 paediatric neurologists, 1 biochemist, 3 metabolic dieticians and 2 neuro psychologists.

Some assisted more than 1 working group and an obstetrician was consulted by the maternal PKU group. These guidelines were developed between October and December At the start of these guidelines, development version was the appropriate methodology. For some subjects, additional search systems were used and reference lists were checked.

All reviewed literature was published before Dec 31, and did not exclude any publications before a specified year or type of study design. Papers were excluded if they were not relevant to the key question or not written in English language. A total of publications was reviewed. Recommendations were either based on evidence if level of evidence was A or B using the SIGN method or by consensus using the Delphi method if the level of evidence was C, D or the so-called good practice points that are not based on any evidence.

To reach such consensus, those recommendations without high level of evidence were discussed with all participants of all working groups during 5 face-to-face plenary sessions using Delphi methodology. Because of the rarity of this disorder, there were limited high quality papers available for most subjects, even though PKU is one of the most researched inherited metabolic disorders IMD.

Although the design of many studies was sub-optimal or they lacked statistical power, the statements written in this guideline are convincing, important and relevant. Consistency, applicability and volume of evidence were considered with some evidence upgraded or downgraded accordingly. There was no grading system available for diagnostic accuracy evidence.

A concept of the guideline was sent to 16 external consultants specialized in PKU management. Fifteen of them responded, while 2 reviewers chose to remain anonymous; S. Beblo Germany , G. Berry US , M. Bik-Multanowski Poland , M. Cleary United Kingdom , T. Lachmann United Kingdom , H. Levy United States , Y. Okano Japan , I. Schwartz Brazil , J. The ESPKU or other people outside the guideline team had no opportunity to influence the development of the guideline statements or the full guideline document except the 14 professionals and the ESPKU when invited to provide their external review.

The following recommendations were highlighted as the key clinical recommendations that should be prioritized for implementation [ 15 ]. The grade of recommendation relates to the scientific evidence and does not reflect the clinical importance. The marks range from V no possibility to evaluate the level of evidence due to lack of any paper on this issue to as high as B. Published evidence confirms that universal NBS for PKU meets all accepted screening criteria and justifies the cost and infrastructure necessary for the collection and testing of neonatal blood spots [ 16 — 18 ].

NBS is considered a national obligation even in countries when populations are known not to have PKU. Due to high migration in countries, a diagnosis of PKU remains possible. Low-income countries may consider using the NBS laboratory facilities of other countries. There are numerous committees and working groups that work on optimization of NBS procedures from the time of blood sampling, the method chosen for diagnosing high blood Phe levels and the referral procedure. At least partly, these procedures depend on national health care organizations. The most important issue is that children with a positive NBS result should be referred to a specialized metabolic centre with knowledge and experience in the diagnostic procedures and early treatment strategies to ensure the best outcome of PKU patients.

Individuals who have not had NBS and present with developmental delay or other PKU-related symptoms, should have plasma amino acids analysed. The differential diagnosis of HPA includes high natural protein intake, prematurity, defects in BH4 metabolism and liver disease.

Samples of blood and urine should be taken prior to starting treatment and before BH4 loading. Urine should be sampled and stored in dark conditions by wrapping in aluminium foil and stored immediately in a freezer. Those with PCD deficiency may be at risk of developing non-immune MODY-like diabetes or hypomagnesaemia and renal magnesium wasting [ 27 , 28 ].

Evaluation for BH4 disorders for any neonate or infant with neurological problems of unknown origin is suggested even without increased Phe or negative NBS for increased Phe. The gene encoding PAH is located on chromosome 12 region q22— Patient genotyping is not essential for the diagnosis of PKU but the genotype can determine the degree of protein dysfunction, residual PAH activity and consequently the metabolic phenotype.

The classification of PAH genotypes may allow for prediction of the biochemical and metabolic phenotypes in many genotypes and be useful for the management of HPA in newborns [ 29 — 32 ]. Patients with gene variants that determine a high residual enzyme activity which are those with the milder metabolic phenotypes have a higher probability of responding to BH4 [ 35 , 36 ]. Patients with a genotype known to be non-BH4-responsive should not undergo BH4 testing, while patients with a genotype with 2 BH4-responsive variations may directly proceed to a treatment trial rather than a BH4 loading test.

In all other patients, a BH4 loading should be considered. Prenatal diagnosis for PKU is feasible and genetic counselling depends on many issues including ethical, religious and legal issues in each country. There is no consensus regarding phenotype classification. Blaskovics developed a Phe loading test to differentiate subtypes based on the responses among 8 HPA disease types of which 5 were related to PAH deficiency [ 37 ]. However, at present, this is not regarded as ethical as it increases the Phe level. In , untreated Phe levels, e.

These criteria no longer aid in diagnosing patients for various reasons, including the large range of cut-off points [ 39 ] and even more importantly, the time of neonatal screening, as patients will commonly start treatment before reaching their maximal Phe concentrations [ 40 ]. Additionally, Phe tolerance is used to differentiate among 3 or 4 phenotypes [ 38 , 41 ].

Exact Phe tolerance is difficult to determine because of non standardized conditions and discrepancies between prescribed and actual intake of Phe. Therefore, the following simplified classification scheme is suggested, derived from Blau [ 3 ]. In , Smith et al. Although there are no formal studies to indicate that treatment commencement even earlier is necessary, data show that treatment in the early years of life has more impact than later years.

As a consequence it is generally recommended that treatment should start as early as possible to prevent neurological damage [ 1 ]. Except for the publication by Gassio et al. Gassio et al. However, this could also be explained by HPA patients having a lower average age than the control patients.

Diagnosis and Management

Campistol et al. Costello et al. Diamond et al. In , Weglage et al.

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Smith et al. Because of limited data this publication was not considered [ 50 ]. An analytical shortcoming of previous studies is that patients were arbitrarily divided into subgroups. To examine the impact of Phe exposure in a vulnerable phase of brain development consider the use of more informative models like Widaman [ 51 ] did in maternal PKU.

Therefore, we cannot give any definitive conclusions and consequently have decided to adopt a cautious approach. The evidence that supports treatment is of suboptimal quality. The evidence that supports no treatment is of better quality. Women need to be advised at each clinic that dietary treatment or BH4 therapy or both is essential pre-conception and during pregnancy. Some may consider that during child bearing years, women should continue a small dose of Phe-free L-amino acid supplements to help retain acceptance of its taste, but this practice remains unproven.

Since the introduction of NBS and early treatment, patients with PKU no longer develop profound and irreversible intellectual disability. The foremost question now is if patients should be treated thoughout adulthood. There are no studies distinguishing the effect of Phe levels during different life phases childhood, adolescence, adulthood. Also different terminology, target Phe levels and treatment strategies are given in published studies and consequently hamper a definitive conclusion.

Here we describe studies in PKU patients who are continiously treated, on relaxed or discontinued diets and returned to diet. Bosch et al. Concerning neurological functioning, Fonnesbeck et al. In contrast, the meta-analysis of Albrecht et al. However there were too little data to exclude the possibility that lower Phe levels could improve performance [ 59 ].

In patients on a relaxed diet, Bik et al. In a German study, Simon et al. It is unclear how these adults were treated, but probably dietary treatment was relaxed as this is the usual practice in Germany. Adults with PKU who discontinued the low-Phe diet during adolescence have been reported to show significantly slower reaction times [ 63 ] and subtle differences in inhibition, attention and working memory [ 64 ] compared with adults on dietary restrictions and control groups. Dietary discontinuation during adolescence was concluded by Koch et al.

Some patients who experience suboptimal outcomes and return to diet improve. In addition Schmidt et al. Ten Hoedt et al. However, it is possible that adults who have no desire to return to diet may not participate in studies.

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Overall it is unclear how many adults experience suboptimal outcomes that have impact on daily functioning. Neither, it is clear if Phe levels during adulthood will impact outcome in elderly patients. As there is currently no strong evidence that it is safe to discontinue dietary treatment in adults, treatment for life is recommended, even though it is acknowledged that dietary management is associated with significant patient burden.

Patient motivation should be strong with a supportive family network and metabolic team to overcome any barriers. Evidence from a systematic review demonstrates that significant sub-optimal outcomes exist in ETPKU adults. Issues include EF deficits, attention problems, decreased verbal memory, expressive naming and verbal fluency, as well as social and emotional difficulties [ 5 ]. ETPKU adults usually show a clear relationship between concurrent blood Phe concentrations and certain aspects of brain function, brain metabolism and differences in myelination as summarized by van Spronsen et al.

Tremors have also been detected in ETPKU, although they are more frequent and severe in late treated patients [ 73 ]. At present, it is not known how many patients have neurological and psychological problems and which adult PKU patients have a higher risk of these problems. Many adults with PKU have a vegan-like diet but may not take Phe-free L-amino acid supplements [ 74 ] and consequently may be at risk of micronutrient deficiencies [ 75 ].

There is increasing reports of females and not males with PKU being overweight and obese [ 76 , 77 ]. The risk of comorbidities makes dietary management more complex [ 78 ]. The risk of low bone density has widely been acknowledged but the risk of bone fractures is still unclear [ 79 ]. In PKU, life-long, systematic follow-up is recommended independent of the degree of adherence and non- treatment choice, to screen for long-term complications at any life stage, and provide appropriate support to patients.

In addition, it is not known if there will be further complications when adult PKU patients advance in age, such as neurodegeneration or movement problems. By collecting data, we should be able to identify if patients are likely to deteriorate and which patients are at special risk of deterioration and why. The primary goal of treatment is normal neurocognitive and psychosocial functioning.

Blood Phe concentrations remain the best surrogate measure, and should be monitored regularly, aiming for blood Phe levels that stay within a given target treatment range, defined for a given age. Discussions on target ranges have focused primarily on the upper blood Phe level but there is little data to support the lower target level. It is now well established that blood Phe decreases during the day with the highest blood Phe attained early in the morning, following an overnight fast [ 82 ]. When trying to reach consensus about the upper target Phe concentration for treatment in PKU, comparison of studies was hampered by various factors:.

Studies use different methods to measure blood Phe past data were sometimes based on the semi-quantitative Guthrie or more reliable fluorometric enzyme analysis but more recently amino acid concentrations were usually measured by high-performance liquid chromatography and tandem mass spectrometry that are more precise. Differences between the methods except for Guthrie method are relatively small [ 83 — 85 ]. Past studies are largely based on plasma Phe levels, where it is now routine practice to perform DBS measurements. It should be considered that a higher plasma Phe is likely to result in a higher variation between DBS and plasma.

At the same time, it is also reported that reliable Phe levels can be estimated within a minimum size of blood spot [ 91 ]. The statements in this guideline recommend blood Phe as upper target levels where reported studies used means or mean of medians. Therefore, these upper target levels are probably on the safe side considering current evidence , so even with differences in blood levels due to sample type, we still consider we have a reasonable upper target for Phe levels.

Albrecht et al. In total, patients children, adolescents and adults and controls participated in these studies. Waisbren et al. Fonnesbeck et al. A stronger association was observed between Phe levels during early childhood and later IQ. There was no strong association between concurrent Phe levels and IQ [ 52 ]. Taken together, in childhood, the meta-analyses of Albrecht et al.

It should be noted that the primary papers considered in these meta-analyses are mostly non-experimental designs such as historical cohorts, cross-sectional designs and case series, which in turn decreased the quality of these analyses.

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In a study by Leuzzi et al. In addition, Huijbregts et al. Schmidt et al. Group A performed as well as the control group and better than group B, C and D for sustained attention and calculation speed tests. All the other groups performed worse than the control group [ 69 ]. Jahja et al. However, despite statistical significant differences, this was not considered clinically significant. Moyle et al. PKU literature often combines data from children, adolescents and adults but this compromises the ability to interpret the results.

The level of dietary adherence was not uniform, although the majority of patients was following a relaxed diet at the time of testing. Additionally, the matching criteria and type of control groups differed across studies. The results from the study indicated that continuously treated PKU patients without correcting for treatment adherence , while displaying no significant weakness in working memory, are likely to show reduced levels of functioning across a range of different cognitive functions IQ, attention, inhibition, processing speed, and motor control compared to controls [ 95 ]. Weglage et al.

The older group, however, performed more slowly in testing for information processing, which might be related to their early relaxation of diet. In summary, for adolescents the meta-analysis of Albrecht et al. The meta-analysis of Fonnesbeck et al.

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It could be argued that within this age group the upper target Phe levels needs to be lower Schmidt et al. In adulthood the goal of treatment is to achieve normal neurocognitive and psychosocial functioning. As previously discussed, it is not fully understood which PKU adult outcomes are associated with increased Phe levels during adulthood and there are no large controlled longitudinal studies to help determine the optimal upper target blood Phe levels. Further data collection by long-term international collaborative studies is required to help direct current recommendations.

In the double-blind randomised placebo-controlled cross-over trial of Ten Hoedt et al. The higher Phe levels significantly worsened mood and sustained attention [ 70 ]. Sustained attention and calculation speed improved significantly with the lower Phe levels [ 69 ]. Channon et al. The on-diet adults performed worse compared to controls regarding n-back speed [ 64 ].

With these studies, it is difficult to interpret if consequences are due to Phe levels during childhood, adolescence or adulthood. Adulthood enables more invasive techniques to be used to determine safe Phe concentrations. Hoeksma et al. Blood Phe control and its impact on oxidative stress has also been considered. Oxidative stress occurs in neurodegenerative disease and the brain has relatively low levels of antioxidant defences.

Sanayama et al. Blood Phe levels but not Phe fluctuations and Phe: Tyr ratios are the primary reported markers of metabolic control [ 52 , 53 , 59 ]. Treatment is adjusted according to the blood Phe level. The effect of a single Phe levels outside the target range is not easily measured. There are data indicating that fluctuations in Phe often measured as SD or SEE can be a predictor of IQ [ — ], EF [ ] and motor control [ 94 ], although the literature is inconsistent [ ]. As Cleary et al. Additionally, further research is needed to examine the differences between the short-term and long-term effect of Phe fluctuations [ ].

Considering the Phe: Tyr ratio, it is hypothesed that an increased Phe: Tyr ratio leads to dopamine deficiency as Phe and Tyr compete to cross the blood—brain barrier [ 48 ]. Sharman et al. Furthermore, in , Sharman et al. Luciana et al. Again, it was difficult to distinguish between the effect of Phe: Tyr ratio and the elevated Phe levels. Probably, the Phe: Tyr ratio is useful, but as the Tyr concentration depends on the timing of blood sampling [ 82 , ], the marker is only of value if measured after an overnight fast. Therefore, the exact value of the Phe: Tyr ratio in addition to blood Phe measurements remains to be determined.

Patients are monitored with home blood sampling and outpatient visits. The effect of frequency of contact or regularity of blood sampling on adherence has not been adequately assessed in PKU. Frequent contact during the first year of life is essential to instruct parents and help attain good metabolic control. Regular follow-up during adolescence is also crucial as it is well established that blood Phe control deteriorates [ ].

It is essential that adolescents are supported throughout the transition process until they are established and confident in an adult care environment; they should be encouraged to take responsibility for self care, taking regular blood Phe samples, attending age appropriate outpatient clinics with suitable education programmes. We suggested the following minimum frequencies of blood sampling and minimum outpatient visits for each age group:.

During the first year of life and throughout pre-conception and pregnancy, weekly telephone contact with health professionals is important to provide close support to patients and their families. Various life events, such as change of school, starting employment, living independently, as well as adherence issues e.

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It is important that blood Phe samples should be obtained at the same time of the day. To estimate the highest Phe value of the day and reliable Tyr levels, blood samples should be collected in the morning after fasting overnight. Blood Tyr levels taken at different times may be increased by the tyrosine intake from Phe-free L-amino acid supplements. This requires home monitoring systems instead of home sampling. At each outpatient visit, the following should be conducted: a medical and dietary history, assessment of anthropometry including body mass index estimation, and a physical and neurological examination, especially observing for clinical signs of Phe toxicity and nutrient including Phe deficiency [ 80 , 81 ].

Clinic reviews should always include a discussion on treatment issues and mental and physical health e. All patients should be treated in a specialized metabolic centre with a specialized metabolic laboratory. The minimum health professionals within a team for patients of all ages should be a metabolic physician and a dietician with experience in IMD. Access to a psychologist is requested by the ESPKU patient organization [ 11 ] while we strongly advise access to a neuro psychologist and social worker.

It is recognized that PKU is a IMD possibly necessitating may necessitate the support of professionals outside the core team. That support can be for financial issues and beyond. Although in many countries adult patients are followed up by a paediatric team [ ], it is important that metabolic teams prioritise the establishment of an adult metabolic service, lead by an adult metabolic physician, specifically trained in the management of IMD. This latter process must occur even if the patient is staying under the same paediatric service.

Patients and families need an individualized care plan and timetable for transition, together with detailed information about the adult centre. This should be jointly written with teenagers, caregivers, and health professionals. This plan should include treatment goals, a timetable for transfer, and ensure there is a consistent approach between all health professionals.

It should also provide a mutual understanding of the transition process. It has been demonstrated in PKU, with careful planning, close liaison between paediatric and adult teams, and patient and caregiver involvement, that most patients are able to make a successful transition to adult care [ ]. The nutritional status of patients varies according to PKU severity and type of treatment. Except for patients on a normal diet MHP and fully BH4-responsive patients , the majority follow a low natural protein diet with limited or no animal protein sources. The major source of micro-nutrients is from supplemented Phe-free L-amino acids and if the intake of Phe-free L-amino acid supplements is sub-optimal, this will increase the risk of micronutrient deficiency e.

Clinical symptoms of nutrient deficiency are rarely reported, and are mainly described for vitamin B12 deficiency in patients who have reduced or stopped their micronutrient supplement or Phe-free L-amino acid supplements while following a vegan-style diet [ , ].

For some nutrients, the bioavailability appears sub-optimal e. Functional markers of micronutrient status ferritin, hemoglobin, MCV for iron; methylmalonic acid and total homocysteine in serum for vitamin B12 are useful to detect iron and vitamin B12 deficiency as their plasma concentrations are not fully related to their nutritional status e.

In addition, some studies have demonstrated high folate levels in patients associated with the high folate content of Phe-free L-amino acid supplements with added vitamins and minerals [ , , ].

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  5. The long- term consequences of folate overload in PKU have not been assessed. Deficiencies of other micronutrients are rarely reported. The nutritional follow-up requires the monitoring of anthropometry, body mass index BMI , clinical signs of nutrient deficiency, nutrient intake and biological biomarkers to detect subclinical micronutrients excess or deficiencies. The main factors influencing bone density are calcium and vitamin D status, the quality of bone proteins, physical activity, endocrine status, genetic and environmental factors.

    Osteopenia and osteoporosis in PKU has been described for many years. There have been 3 systematic reviews on bone density in PKU: Enns et al. Enns et al. Hansen et al. These papers included early and late treated PKU patients; only 1 corrected for reduced height.

    Demirdas et al. An increased fracture risk has been infrequently described [ ]. Earlier studies described calcium and vitamin D deficiencies [ , ], but the calcium and vitamin D content of current Phe-free L-amino acid supplements exceed requirements. Despite adequate calcium and vitamin D content of Phe-free L-amino acid supplements, osteopenia is still identified in patients on strict low Phe diet and good metabolic control [ ].

    Patients with PKU also have an increase of calciuria, demonstrating no calcium deficiency [ ]. Therefore, micronutrient intake is not the only causative factor of bone disease in PKU. Osteopenia has not been observed in untreated MHP [ 5 , , , ]. It has been described in classical PKU with various calcium metabolism profiles. In patients with classical PKU and poor diet, osteopenia was associated with an increase in parathyroid hormone PTH and alkaline phosphatase activity, both of which are related to calcium or vitamin D deficiency [ , ].

    However, even classical PKU patients on strict diet with normal alkaline phosphatase and PTH activities may have osteopenia associated with osteoporosis pathophysiology. The metabolic profile of calcium metabolism in PKU patients is identical to that observed in classical osteoporosis normal blood calcium, phosphorus, alkaline phosphatase and PTH associated with an increase of calciuria and C-terminal telopeptide. This may be partly due to heterogeneity in both markers and populations with regard to age [ 79 ].

    Bone health also depends on the quality of its protein structure as evident by the bone fragility observed in osteogenesis imperfecta. The impact of overall protein status, including the biological value of intact protein versus Phe-free L-amino acid supplements and the percentage of protein derived from natural protein, is often not considered in studies [ 79 ]. Miras et al. The main difference between the group with and without MBD was the natural protein intake Solverson et al.

    Practically an adequate intake of calcium and vitamin D, regular exercise and optimization of natural protein intake must be ensured. We suggest follow-up of BMD during late adolescence statement 22 , although there is no sound research data suggesting follow-up by DXA or other methods. The pattern of WM involvement in ETPKU is characterized by patchy or diffuse symmetrical lesions of deep and periventricular WM occipito-parietal, frontal, temporal appearing as signal hyper intensity on T2-weighted and FLAIR sequences and, in a minority of subjects, as signal hypo intensity in T1-weighted sequences.

    Whether these lesions have any clinical impact is unclear and the mechanisms involved in their pathogenesis are not known. Bick et al. However, other factors are involved as suggested by the occurrence of WM variation improvement or worsening in patients who did not change their Phe values, and the wide variability of WM involvement under similar value of blood and brain Phe [ , ]. WMA are reported to be reversible. Cleary et al. White et al. Similar results come from single cases and small cohort studies [ 97 , , ].

    Current neuroimaging techniques are not useful in monitoring the clinical outcome for ETPKU patients. PKU patients have an increased risk of developing neurocognitive problems [ 52 , 53 , 95 ]. Although the majority of ETPKU individuals have educational and professional achievements similar to their non-PKU siblings, they have more pronounced problems in social functioning and emotional wellbeing [ 70 , ].

    The clinical relevance and the relationship to metabolic control need to be established in future research. This corresponds with changes in treatment targets for blood Phe or life changes e. Referral to a neuro psychologist is strongly recommended if risk factors apply as stated in statement In short, there are no PKU specific tests available to measure neurocognitive functions. Reminding this, literature shows many aspects of neurocognitive functioning in PKU patients for which, at some point, phenylalanine-related impairments have been shown.

    These include perceptual skills, visuospatial abilities, and fine motor control for an overview, see Janzen and Nguyen [ ]. Whereas for these aspects of cognition, impairments were shown relatively consistently, there are other domains such as language, verbal fluency, and long-term memory for which impairments were shown incidentally.

    The most consistent phenylalanine-related impairments have been observed in the domain of executive functioning EF, e. The level of complexity of the tasks that were used in neuropsychological assessments in other words: the level of executive control that was required seems to be a determining factor in whether or not impairments will be observed.

    Therefore, it is important that any form of neuropsychological assessment that will be chosen for the monitoring of PKU-patients captures these different levels of complexity. In young and young adult PKUs the assessment of some complex cortical functions, such as EFs reasoning, planning, flexibility, and monitoring , visuo-motor coordination and speed of processing may be a sensitive tool in detecting possible neuropsychological impairment. However, there are some issues to be solved in research setting before we can introduce EF in routine clinical practice 1 the consistency of EF alterations in serial evaluations across different ages; 2 the predictive value of EF alterations with respect to later neurocognitive functioning and real life adaptation.

    Knowing all these issues and the time consuming aspects for staff members of these test, it will be important to continue to study links with instruments that have already shown to be more or less sensitive in picking up phenylalanine-related impairments in PKU [ ]. This contrasts with the view of patients and professionals who experience or observe stress associated with the burden of the diet. Normal HRQoL results may be due to the use of generic questionnaires or questionnaires aimed at the chronically ill but do not address the specific problems experienced by patients with PKU.

    There are no clinical studies available about the utility of measuring psychosocial functioning in PKU but its usefulness has been studied in other diseases. Measurement HRQoL instruments and discussion of psychosocial functioning during clinic visits significantly increased dialogue about psychosocial and emotional function in cohorts of adults, and in children with cancer [ — ], without increasing the duration of the consultation [ , ]. In other conditions, such as adults with cancer and children and adolescents with diabetes, improved psychosocial outcomes were demonstrated [ , , ], but de Wit et al.

    One study evaluating the effect on metabolic control in children with diabetes could not demonstrate improvement [ ].

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    Considering that measurement of psychosocial functioning is usefull in other diseases, this could also be applied to PKU. Determining the impact of PKU on mental health is difficult. One of the reasons for this is that different terminology is used e. Adaptive behaviour is more commonly used and this is defined as a collection of conceptual, social and practical skills necessary to function appropriately in daily life.

    In addition, studies have used different questionnaires to assess mental health. However, when these PKU patients were compared to another chronic disorder of childhood, Diabetes Mellitus, no significant differences were found [ , ]. While Weglage et al. Jusiene et al. Burgard et al. Other studies using personality inventories and depression inventories found no significant differences in mental health between PKU patients and controls or norm scores [ , , ].

    Arnold et al. Baieli et al. In adults with early and continuously treated PKU, there is a lack of evidence about mental health issues. Results from Jahja et al. The Phe levels during childhood were associated with the internalizing behavioural problems [ ].