Background: An emerging literature on behavioural phenotypes has highlighted apparent associations between autism spectrum disorders (ASDs) or ASD-related phenomenology and a number of different genetically determined syndromes. Method: A systematic review of the current literature regarding the association with ASD and ASD characteristics was…

In an attempt to improve the identification of the asymptomatic carrier of classic phenylketonuria (PKU) 59 male and female normal control Ss were differentiated from 18 males and females heterozgous for PKU. (DB)

The booklet covers the identification, diagnosis, and clinical treatment of newborns with Phenylketonuria (PKU), an inborn error of metabolism, which, if untreated, can lead to mental retardation. An initial section considers biochemical and genetic factors of PKU including a diagram of aromatic amino acid hydroxylation systems. Screening…

Deals with symptoms and treatment of PKU (phenylketonuria) and other nutrition-linked diseases which impair physical and mental development. (LR)

Newborn screening is considered a highly successful public health program that has resulted in the reduction of mortality, mental retardation, and other serious disabilities in thousands of children since the introduction of screening for phenylketonuria (PKU) in the 1960s. Programs are based in state public health departments such that each state…

Trends in intellectual functioning before and after diet termination were examined in 30 children (5-11 years old) with PKU (Phenylketonuria, a metabolic disorder) treated before 6 weeks of age and on a liberal diet for a mean of 3 years since the mean age of 59 months. Journal availability: C.V. Mosby Company, 11830 Westline Industrial Drive, St.…

Examined was the occurrence of congenital and neurological abnormalities in 150 children with phenylketonuria (PKU--a metabolic disorder which may result in mental retardation) age 1 year or older, who have been treated with a restricted phenylalanine diet, according to the protocol used in a nation-wide longitudinal collaborative study.…

Parental understanding of PKU, investigated through a questionnaire, was evaluated as to completeness and with respect to distortion. Education of parents was found to be unrelated to their understanding or tendency to distort. Effectiveness of the pediatrician's communication with parents is discussed. (Author/KW)

Cognitive and behavioral effects of temporarily elevating levels of phenylalanine in treated phenylketonuria (PKU) were investigated in a triple-blind crossover study with 16 early and continuously treated children and adolescents with PKU. Results suggest that intellectual ability, memory, and conduct are not affected by medium-term elevated…

Background: When phenylketonuria (PKU) is not diagnosed and long-term treatment commenced within the first few weeks of life, permanent brain damage will occur. There is some evidence to show that late diagnosed or untreated people with PKU who have severe challenging behaviours may benefit from a low phenylalanine diet [Harper & Reid (1987)…

Parents of 30 children with phenylketonuria, classified as being in good or poor dietary control, engaged in verbal and written problem-solving situations under conditions of both high and low time-pressure induced stress. Overall, compliant parents gave higher quality verbal and written problem-solving solutions than noncompliant parents.…

Discontinuation at ages five to six of dietary restriction in 14 children with classic phenylketonuria (PKU--a metabolic disorder which, if untreated, is associated with mental retardation) resulted in deterioration in intellectual function for some of the Ss. Deficits included visual motor integration and cognitive problem solving. (CL)

Early-treated phenylketonuria (PKU) children and unaffected peers were evaluated on four executive function (EF) tasks and one nonexecutive task. The PKU children scored lower than unaffected children on EF tasks, but not on the nonexecutive task. The PKU children's composite EF score was correlated with concurrent and mean lifetime phenylalanine…

Twenty parents of children 12 years and older with PKU (phenylketonuria, a metabolic disorder which if untreated can result in mental retardation) were surveyed to determine their level of knowledge and their needs. (CL)

This fact sheet uses a question-and-answer format to summarize what is known about phenylketonuria (PKU), an inherited metabolic disease that leads to mental retardation and other developmental disabilities if untreated in infancy. Questions and answers address the following topics: what PKU is; how PKU is inherited; the diagnosis of PKU; the…