Birthweight of children with phenylketonuria

The assumption that children with phenylketonuria (PKU) develop normally until birth was brought into question by the recent report that PKU children weigh several hundred grams less at birth than their unaffected siblings. We have examined intrafamily differences in birthweight in 40 sibships with at least one affected and one unaffected child. The difference in mean birthweights computed by taking a weighted average of the intrafamily differences was 69 gm, and the adjusted estimate of the birthweight difference between children with PKU and their siblings, obtained from a fitted multiple regression function, is -51 gm. The findings are not consistent with the large difference in birthweight reported previously and are compatible with the assumption that the intrauterine physical growth of children with classical PKU is not adversely affected.     

Interhemispheric transfer in children with early-treated phenylketonuria

Phenylketonuria (PKU) is a genetic disorder of amino acid metabolism that is associated with brain catecholamine depletion and deficient myelination. Although neuropsychological deficits have been documented in children with early-treated PKU (ETPKU), no study to date has examined possible effects of impaired myelination in this population. In the present study, interhemispheric transfer time was assessed for 14 children with ETPKU, 22 children with attention deficit-hyperactivity disorder, and 48 normal children, using a manual reaction time paradigm previously validated with callosal agenesis patients (Milner, 1982). Children with ETPKU demonstrated slowed interhemispheric transfer from the left to the right hemisphere as compared with the two other groups. The magnitude of slowing was correlated with age and phenylalanine levels at birth. Results support the hypothesis that abnormal myelination disrupts the development of interhemispheric connections in ETPKU, and suggest that left hemisphere projections may be particularly susceptible to such disruption.     

Response monitoring in children with phenylketonuria.

Phenylketonuria (PKU) is characterized by a disruption in the metabolism of phenylalanine and is associated with dopamine deficiency (Diamond, Prevor, Callender, & Druin, 1997) and cerebral white matter abnormalities (e.g., Anderson et al., 2007). From a neuropsychological perspective, prefrontal dysfunction is thought to underlie the deficits in executive abilities observed in individuals with PKU (Christ, Steiner, Grange, Abrams, & White, 2006; Diamond et al., 1997; White, Nortz, Mandernach, Huntington, & Steiner, 2001, 2002). The purpose of our study was to examine a specific aspect of executive ability, response monitoring, as measured by posterror slowing. The authors examined posterror reaction time (RT) in 24 children with well-controlled, early treated PKU and 25 typically developing control children using a go/no-go task. Results showed that RTs of both controls and children with PKU slowed significantly following the commission of errors. The magnitude of posterror slowing, however, was significantly less for children with PKU. These findings indicate deficient response monitoring in children with PKU. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Detection of phenylketonuria in autistic and psychotic children

Sixty-five children with pervasive developmental disturbance (autism and atypical childhood psychosis) were screened by standard urinary amino acid detection testing methods. Three of the children showed abnormalities in these screening tests, leading to the diagnosis of phenylketonuria. This was verified by repeated urinary testing and blood phenylalanine determinations. The children with phenylketonuria were treated with low-phenylalanine diets and have shown improvement in functioning and developmental level since treatment. Urinary genetic screening should be a standard test for all children being evaluated for serious developmental disturbances of childhood.     

Memory functioning in children and adolescents with autism.

Objective: Memory functioning in children and adolescents ages 5–19 with autism (n = 50) and typically developing controls (n = 36) was assessed using a clinical assessment battery, the Test of Memory and Learning (TOMAL). Method: Participant groups were statistically comparable in age, nonverbal IQ, handedness, and head circumference, and were administered the TOMAL. Results: Test performance on the TOMAL demonstrated broad differences in memory functioning in the autism group, across multiple task formats, including verbal and nonverbal, immediate and delayed, attention and concentration, sequential recall, free recall, associative recall, and multiple-trial learning memory. All index and nearly all subtest differences remained significant even after comparing a subset of the autism group (n = 36) and controls that were matched for verbal IQ (p > .05). However, retention of previously remembered information after a delay was similar in autism and controls. Conclusions: These findings indicate that performance on measures of episodic memory is broadly reduced in autism, and support the conclusion that information encoding and organization, possibly due to inefficient cognitive processing strategies, rather than storage and retrieval, are the primary factors that limit memory performance in autism. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

Cognitive functioning of young children with Apert''s syndrome

On October 16, 1996, the first Latinamerican Consensus Conference for the Immunophenotyping of Leukemia took place in the City of Puebla, Mexico, with representatives from ten countries of the region, and two external consultants. This document summarizes the major conclusions where scientific consensus was achieved.     

Family functioning in families of children with anxiety disorders.

The authors examined maternal and paternal reports of family functioning and their relationship with child outcomes as well as the association between anxiety and depression in family members and family functioning. Results reveal that maternal and paternal reports of family functioning were both significantly associated with worse child outcomes, including child anxiety disorder (AD) severity, anxiety symptoms, and child global functioning. Maternal and paternal anxiety and depression predicted worse family functioning, whereas child report of anxiety and depression did not. Parents of children with ADs reported significantly worse family functioning and behavior control, but only fathers reported worse problem solving and affective involvement compared with fathers of children with no psychological disorders. Findings from this study suggest that paternal as well as maternal anxiety and depression play a role in worse family functioning in children with ADs and that unhealthier family functioning is associated with worse child outcomes in this population. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Visual–motor integration functioning in children with Tourette syndrome.

A neuropsychological model of visual–motor integration skill was proposed and tested in 50 children with Tourette syndrome (TS) and 23 unaffected control children matched for age. Children with TS performed significantly worse than control children on the Beery Visual–Motor Integration (VMI) Test. Consistent with the proposed model, visuoperceptual and fine-motor coordination subprocesses were significant predictors of VMI scores. However, the subprocesses did not fully account for the diagnostic group difference on the VMI. These results suggest that the integration of visual inputs and organized motor output is a specific area of neuropsychological weakness among individuals with TS. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Eye findings in patients with phenylketonuria

Untreated phenylketonuria (PKU) is characterized by excretion of phenylpyruvic acid in the urine and mental retardation. Reported eye abnormalities include photophobia (probably due to the albinoid iris), cataracts, and corneal opacities. Eleven patients in an institutionalized population of approximately 1,000 mentally retarded patients had PKU. Cataracts were found in six patients. One patient had bilateral phthisis bulbi and one patient had monocular phthisis. No corneal opacities were found otherwise. All patients with cataracts were middle-aged or had a history of severe self-induced trauma or treatment with high dosages of thioridazine hydrochloride. Albinism is associated with anomalous chiasmal routing of optic fibers and abnormal, extraocular motility. The ocular hypopigmentation of patients with PKU did not have the same results; all seeing patients were orthophoric. Although eye abnormalities are common in PKU except for hypopigmentation, none can be considered a direct effect of the inborn error of metabolism.     

Attention deficit disorder and neuropsychological functioning in children with Tourette's syndrome.

Neuropsychological deficits in Tourette's syndrome (TS) may result from comorbid psychiatric disorders. This study compared the neuropsychological performance of TS children with and without attention deficit disorder (ADD). Participants were 82 children between 6 and 18 yrs of age with TS, 36 of whom had ADD. ADD children did not differ from non-ADD children in age or in onset or duration of TS but did display more severe complex tics and obsessive-compulsive symptoms. After statistical control for these characteristics, ADD children demonstrated significant deficits in various elements of attention, including encoding, sustaining, and focusing/ executing, and in academic achievement. They did not differ in IQ, non-attentional cognitive skills, or sensorimotor functions. The comorbid psychiatric disorders associated with TS yield distinct patterns of neuropsychological functioning that may reflect overlapping neuroanatomic substrates. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Psychosocial functioning in children of alcoholic fathers.

T. Jacob and K. Leonard (1986) reported that children of alcoholic fathers were comparable to children of depressed fathers in their psychosocial functioning. These results, however, were based on a relatively homogeneous sample. In the current study, previous results were extended by examining a sample of alcoholic fathers who were not screened for additional paternal psychiatric disorders or for major maternal psychopathology. Children in the unscreened and screened samples could not be distinguished in their functioning, and the majority of children of alcoholic fathers were functioning in the normal range of the Child Behavior Checklist. Given the heterogeneous adjustment in children of alcoholic fathers, the authors examined a range of factors that might protect against or exacerbate the risk associated with paternal alcoholism. Maternal depression and certain demographic characteristics were associated with poorer child functioning, particularly for male children. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Perceptual-motor speed discrepancy and deviant driving.

Drake, using industrial accident data, proposed that individuals with better motor speed than perceptual speed are more accident-prone than those with greater perceptual than motor speed. This hypothesis was tested n the area of traffic accidents using 3 measures of perceptual and 3 measures of motor speed. The Ss were 2 groups of 70 male drivers each, matched for age, education , and driving exposure. The problem-driver group had 4 times more traffic accidents during the past 5 years than the controls. None of the 9 perceptual-motor speed discrepancies supported Drake's hypothesis. The assumption of this hypothesis are examined. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Social anxiety in children with anxiety disorders: relation with social and emotional functioning

BACKGROUND: Oxygen radicals have been implicated as important mediators in the early pathogenesis of acute pancreatitis, but the mechanism by which they produce pancreatic tissue injury remains unclear. We have, therefore, investigated the effects of oxygen radicals on isolated rat pancreatic acinar cells as to the ultrastructure, cytosolic Ca2+ concentration and energy metabolism. METHODS: Acinar cells were exposed to an oxygen radical-generating system consisting of xanthine oxidase, hypoxanthine and chelated iron ions. Cell injury was assessed by LDH release and electron microscopy. Cytosolic Ca2+ levels and mitochondrial membrane potential were determined by flow cytometry; adenine nucleotide concentrations by HPLC. Mitochondrial dehydrogenase activity was measured by spectrophotometric assay. RESULTS: Oxygen radicals damaged the plasma membrane as shown by a 6-fold LDH increase in the incubation medium within 180 min. At the ultrastructural level, mitochondria were the most susceptible to oxidative stress. In correlation to the pronounced mitochondrial damage, the mitochondrial dehydrogenase activity declined by 70%, whereas the mitochondrial membrane potential was enhanced by 27% after 120 min. Together this may cause the 85% decrease in the ATP concentration and the corresponding increase in ADP/AMP observed in parallel. In addition, an immediate 26% increase in cytosolic Ca2+ was found, a change which could be inhibited by BAPTA, reducing cellular damage. CONCLUSION: Cytosolic Ca2+ synergizes with oxygen radicals causing alterations of the ultrastructure and energy metabolism of acinar cells which might contribute to the cellular changes found in early stages of acute pancreatitis.     

Neuromotor functioning in children with Tourette syndrome with and without attention deficit hyperactivity disorder

Neuromotor function was assessed in 94 children of normal intelligence with Tourette syndrome, Tourette syndrome and attention-deficit hyperactivity disorder (ADHD), or ADHD only, using the Physical and Neurological Examination of Subtle Signs (PANESS). Time to complete six motor movements was analyzed separately by side (left and right) and complexity (simple and patterned). All groups performed faster on their preferred, dominant side. Although all groups took longer to complete patterned versus simple movements, the group with ADHD had a larger discrepancy for complexity than the other two groups. The speed for simple and patterned tasks was at or faster than age expectations for 54% of tasks in the group with Tourette syndrome but only 15% of tasks in the other two groups. More children in the group with Tourette syndrome (76%) than the groups with Tourette syndrome with ADHD (54%) or ADHD (54%) or ADHD only (65%) performed movements within normal time limits for age. Findings suggest that Tourette syndrome is not associated with motor slowing.     

Social functioning and adjustment in Canadian-born children with Chinese and European backgrounds.

The purpose of the study was to examine social functioning and adjustment in peer context in Chinese Canadian and European Canadian children. A sample of elementary school children participated in the study. Data on social functioning, peer acceptance and rejection, and victimization were collected from peer assessments and sociometric nominations. The results indicated that Chinese Canadian children were viewed by peers as less aggressive-disruptive than European Canadian children. Chinese Canadian girls, but not boys, were more shy-sensitive than their European Canadian counterparts. Sociability was associated with peer acceptance, whereas aggression was associated with peer rejection and victimization. Shyness was associated with peer relationship difficulties more evidently in European Canadian children than in Chinese Canadian children. These results indicate the relevance of ethnic background to children's peer social experiences. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

The structure of intelligence in children and adults with high functioning autism.

Confirmatory factor analyses of the commonly used 11 subtests of the Wechsler child and adult intelligence scales were accomplished for 137 children and 117 adults with high functioning autism (HFA) and for comparable age groups from the standardization samples contained in the Wechsler manuals. The objectives were to determine whether the structure of intelligence in HFA groups was similar to that found in the normative samples, and whether a separate "social context" factor would emerge that was unique to HFA. Four-factor models incorporating a Social Context factor provided the best fit in both the autism and normative samples, but the subtest intercorrelations were generally lower in the autism samples. Findings suggest similar organization of cognitive abilities in HFA, but with the possibility of underconnectivity or reduced communication among brain regions in autism. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Parenting and social functioning of children with and without cerebral palsy.

Objective: To examine the associations between parenting dimensions and the social functioning of children with and without cerebral palsy (CP). The primary hypothesis was that controlling for cognitive ability, specific parenting dimensions would be associated with higher social functioning, including larger social networks, higher-quality friendships, and healthier social adjustment in children with and without CP. Participants: Forty-one children with cerebral palsy and 60 typically developing (TD) children, ages 6 to 12. Measures: Parenting Dimensions Inventory; Social Network Inventory for Children, Friendship Quality Questionnaire, Personality Inventory for Children-Second Edition, WISC-III Vocabulary. Results: Bivariate associations revealed that cognitive ability was associated with social functioning in both groups. In the group with CP, controlling for cognitive ability, parenting dimensions were not associated with social functioning, in contrast with findings in the TD sample. Conclusions: Findings suggest different parenting influences on the social development of children with and without CP. Theoretical and methodologic implications are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Neuropsychological functioning in nonreferred siblings of children with attention deficit/hyperactivity disorder.

The goal of this study was to assess neuropsychological functioning in nonreferred siblings of children with attention deficit/hyperactivity disorder (ADHD). Participants were 156 siblings of ADHD probands with (N?=?40) and without (N?=?116) ADHD (according to criteria of the Diagnostic and Statistical Manual of Mental Disorders [3rd edition, revised; American Psychiatric Association, 1987]) and 118 siblings of non-ADHD normal controls of similar age, IQ, and grade level. Information on attention, executive, and memory functions was obtained in a standardized manner without knowledge of clinical status. Compared with siblings of controls, siblings with ADHD were significantly impaired on the Stroop test and on verbal learning and memory. In contrast, siblings without ADHD were similar to controls on virtually all measures. These data suggest that some executive, attention, and verbal learning deficits are found in nonreferred individuals with ADHD but that neuropsychological deficits are unlikely to constitute an endophenotype to ADHD. (PsycINFO Database Record (c) 2010 APA, all rights reserved)