Outcome at Age 4 Years in Offspring of Women With Maternal Phenylketonuria: The Maternal PKU Collaborative Study

Waisbren, Susan E.; Hanley, William; Levy, Harvey L.; Shifrin, H; Allred, Elizabeth N.; Azen, Colleen; Chang, Pi-Nian; Cipcic-Schmidt, S.; Cruz, Felix de la; Hall, R.A.S.; Matalon, Reuben; Nanson, Jo; Rouse, Bobbye; Trefz, F. K.; Koch, Richard

doi:10.1097/00006254-200007000-00003

Cited by 20 publications

(52 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The MSCA test has been widely used for mental and motor development assessment in children of preschool age. For example, it has been found to be sensitive in detecting the beneficial effects of breast-feeding for preterm infants (16), the difference in cognitive development in children identified as high and low risk for neurodevelopmental problems in infancy (17), and the adverse effects of maternal phenylketonuria on children's cognitive development (18).…”

Section: Methodsmentioning

confidence: 99%

Long-Term Evaluation of the Impact of the H1-Receptor Antagonist Cetirizine on the Behavioral, Cognitive, and Psychomotor Development of Very Young Children with Atopic Dermatitis

et al. 2002

View full text Add to dashboard Cite

The impact of the prolonged use of cetirizine at high dose (0.25 mg/kg twice a day over 18 mo) on behavior and cognitive ability was examined in a double-blind, randomized, placebocontrolled trial (ETAC-Early Treatment of the Atopic Child) designed to establish whether it was possible to prevent young children (1-2 y old at study entry) with atopic dermatitis from developing asthma. Well-validated and standardized measures of behavior (Behavior Screening Questionnaire) and cognition (McCarthy Scales of Children's Abilities) were used. In addition, the ages of attainment of psychomotor milestones were established. These measures were taken between an average of 32 and 53 mo of age, both during the study treatment with cetirizine or placebo and after the study treatment had been discontinued. The Behavior Screening Questionnaire was completed at least once on approximately 300 children in each group and on approximately 200 children on five occasions. The McCarthy Scales of Children's Abilities were administered to approximately 100 in each group at three different times. There were no significant differences between the cetirizine and placebo groups on either of the behavior and cognition measures or in psychomotor milestones during or after the study treatment. These findings suggest that there are no adverse effects on behavior or learning processes associated with the prolonged use of cetirizine in young children with atopic dermatitis. There is evidence that the use of some antihistamines has an effect on behavior and that this is shown most markedly as sedation (1-3). These side effects may have implications for the long-term development of the child. Little is known about the development of histamine receptors with age, and, given that all antihistamines can gain access to the brain (4), it is important to establish whether antihistamines have a deleterious effect on histamine receptor sites and on the cognitive and behavioral systems regulated by histamine (5). There has been no study on the impact of the long-term administration of antihistamines on children's behavioral development. The present study aimed to fill this gap.A number of findings that have suggested that firstgeneration antihistamines can interfere with learning. Sedating (diphenhydramine) and nonsedating (loratadine) antihistamines and a placebo have been used with children suffering from seasonal allergic rhinitis (6). It was found that those on placebo and diphenhydramine learned significantly less well than healthy controls. The nonsedating antihistamine only partially counteracted this effect. A subsequent study of young adults with seasonal allergic rhinitis showed that this learning deficit could be avoided by the use of a combination compound of acrivastine and pseudoephedrine (7). The indications from these previous studies made it essential to determine whether

show abstract

Section: Methodsmentioning

confidence: 99%

Long-Term Evaluation of the Impact of the H1-Receptor Antagonist Cetirizine on the Behavioral, Cognitive, and Psychomotor Development of Very Young Children with Atopic Dermatitis

et al. 2002

View full text Add to dashboard Cite

show abstract

“…Therefore, it is recommended that women achieve plasma phe concentrations of 120 to 360 M [4] prior to pregnancy as critical development of the fetal central nervous system and heart occurs between 5 and 8 weeks' gestation. Studies from the Maternal PKU Collaborative Study showed that normal intellectual development was achieved in children born to women with PKU if maternal blood phe levels were below 600 M by 10 weeks' gestation [51] . This is extremely difficult to achieve even with added support during pregnancy [52] , and the biggest challenge, but key to achieving metabolic control, is sufficient consumption of a phe-free AA formula.…”

Section: Maternal Pkumentioning

confidence: 99%

Nutritional Management of Phenylketonuria

MacLeod

Ney²

2010

Ann Nestlé [Engl]

119

View full text Add to dashboard Cite

Phenylketonuria (PKU) is caused by deficient activity of the enzyme phenylalanine hydroxylase, needed to convert the essential amino acid (AA) phenylalanine (phe) to tyrosine. In order to prevent neurological damage, lifelong adherence to a low-phe diet that is restricted in natural foods and requires ingestion of a phe-free AA formula to meet protein needs is required. The goal of nutritional management for those with PKU is to maintain plasma phe concentrations that support optimal growth, development, and mental functioning while providing a nutritionally complete diet. This paper reviews developing a lifelong dietary prescription for those with PKU, outcomes of nutritional management, compliance with the low-phe diet across the life cycle, and new options for nutritional management. An individualized dietary prescription is needed to meet nutrient requirements, and the adequacy of phe intake is monitored with assessment of blood phe levels. Elevated phe concentrations may occur due to illness, excessive or inadequate phe intake, or inadequate intake of AA formula. Although normal growth and development occurs with adherence to the low-phe diet, it is important to monitor vitamin, mineral and essential fatty acid status, especially in those who do not consume sufficient AA formula. Given the growing population of adults with PKU, further research is needed to understand the risks for developing osteoporosis and cardiovascular disease. There are promising new options to liberalize the diet and improve metabolic control such as tetrahydrobiopterin therapy or supplementation with large neutral AAs. Moreover, foods made with glycomacropeptide, an intact protein that contains minimal phe, improves the PKU diet by offering a palatable alternative to AA formula. In summary, continued efforts are needed to overcome the biggest challenge to living with PKU – lifelong adherence to the low-phe diet.

show abstract

“…A Német-ország és Kanada részvételével végzett Maternal Phenylketonuria Collaborative Study eredményei szerint a kockázat minimalizálása csak előre tervezett terhesség-gel, az anyai vér Phe-koncentrációjának már a fogamzás előtti szoros ellenőrzésével lehetséges [3,16]. Ugyanerre a következtetésre jutottak angol szerzők is a brit felmérések eredménye alapján [17].…”

Section: Az Mpku Megelőzésének Lehetőségeunclassified

Maternal phenylketonuria

et al. 2013

View full text Add to dashboard Cite

Phenylketonuriában szenvedő várandós anya vérének emelkedett phenylalanin-koncentrációja a magzatra teratogén hatással van, embryo-foetopathiát okoz. Élveszülés esetén a kórkép jellemzői az intrauterin sorvadás, az általában jelentős fokú pszichomotoros retardáció és a gyakori fejlődési rendellenességek. Az így kialakuló tünetcsoportot maternális phenylketonuria szindrómának nevezzük. Azoknak a fogamzóképes korba került nőknek, akik vérében a phenylalanin-koncentráció a normálisnál magasabb, akár a phenylketonuria bármely formája, akár az egyébként kezelést nem igénylő enyhe variáns, a hyperphenylalaninaemia esetén, még a gyermek vállalása előtt részletes felvilágo-sításban kell részesülniük arról a potenciális veszélyforrásról, amit állapotuk/betegségük a magzatra nézve jelenthet. A maternális phenylketonuria megelőzésének legbiztosabb módja, ha a fogamzás előtt és mindvégig a terhesség alatt az anyai vér phenylalanin-koncentrációja a normális tartományban van. A szerzők a Budapesti Anyagcsere Szűrő és Gondozó Központban a megelőzés érdekében tett intézkedéseket, valamint a gondozás gyakorlati kérdéseit ismertetik, és áttekintik a budapesti központhoz tartozó phenylketonuriás anyák várandósságainak kimenetelét a hazai phenylketonuria-szűrés bevezetésétől napjainkig. Orv. Hetil., 2013, 154, 683-687. Kulcsszavak: phenylketonuria, maternális phenylketonuria, metabolikus kontroll Maternal phenylketonuriaElevated maternal phenylalanine levels during pregnancy are teratogenic, and may result in embryo-foetopathy, which could lead to stillbirth, signifi cant psychomotor handicaps and birth defects. This foetal damage is known as maternal phenylketonuria. Women at the childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninaemia, should receive detailed counselling regarding their risks for adverse foetal effects, optimally before contemplating pregnancy. The most assured way to prevent maternal phenylketonuria is to maintain the maternal phenylalnine levels within the optimal range already before conception and throughout the whole pregnancy. Authors review the comprehensive programme for prevention of maternal phenylketonuria at the Metabolic Center of Budapest, they survey the practical approach of the continuous maternal metabolic control and delineate the outcome of pregnancies of mothers with phenylketonuria from the introduction of newborn screening until recently. Orv. Hetil., 2013, 154, 683-687. Keywords: phenylketonuria, maternal phenylketonuria, metabolic control (Beérkezett: 2013. március 3.; elfogadva: 2013. március 27.) Rövidítések BH4 = tetrahydrobiopterin; HPA = hyperphenylalaninaemia; MPKU = maternális phenylketonuria; PAH = phenylalanine hydroxylase; Phe = phenylalanin; PKU = phenylketonuria; Tyr = tirozin Phenylketonuria -az egyik leggyakoribb anyagcsere-betegségA phenylketonuria (PKU) autoszomális recesszív mó-don öröklődő enzimopathia. A PKU az úgynevezett ritka betegségek közül a negyedik leggyakoribb, hazánk-ban incidenciája 1:8500, Magyarországon é...

show abstract

Outcome at Age 4 Years in Offspring of Women With Maternal Phenylketonuria: The Maternal PKU Collaborative Study

Cited by 20 publications

References 0 publications

Long-Term Evaluation of the Impact of the H1-Receptor Antagonist Cetirizine on the Behavioral, Cognitive, and Psychomotor Development of Very Young Children with Atopic Dermatitis

Long-Term Evaluation of the Impact of the H1-Receptor Antagonist Cetirizine on the Behavioral, Cognitive, and Psychomotor Development of Very Young Children with Atopic Dermatitis

Nutritional Management of Phenylketonuria

Maternal phenylketonuria

Contact Info

Product

Resources

About