Objective: To determine the relationship between radiologically identifiable brain injuries and delayed brain development as reflected by brain metabolic and microstructural integrity.Methods: Term newborns with congenital heart disease (CHD) (120 preoperatively and 104 postoperatively) were studied with MRI to determine brain injury severity (BIS), microstructure reflected by fractional anisotropy (FA) and average diffusivity (D av ), and metabolism reflected by N-acetylaspartate (NAA)/choline (Cho) and lactate/Cho. Brain development is characterized by increasing NAA/Cho and white matter FA, and by decreasing D av and lactate/Cho. GLOSSARYBIS 5 brain injury severity; CHD 5 congenital heart disease; CPB 5 cardiopulmonary bypass; D av 5 average diffusivity; DTI 5 diffusion tensor imaging; FA 5 fractional anisotropy; HI 5 hypoxic ischemic; IVH 5 intraventricular hemorrhage; MRSI 5 magnetic resonance spectroscopic imaging; NAA 5 N-acetylaspartate; SNAP-PE 5 Score for Neonatal Acute PhysiologyPerinatal Extension; SVP 5 single ventricle physiology; TGA 5 transposition of the great arteries;

The goal of this research is to identify the neural response to rewarding food cues before and after eating in overweight/obese (OB) and normal-weight (NW) adults. Based on the previous literature, we expected greater differential activation to food cues vs. objects for OB compared to NW participants both prior to eating and after consumption of a typical lunch. Twenty-two overweight/obese (11 male) and 16 normal-weight (6 male) individuals participated in a functional magnetic resonance imaging task examining neural response to visual cues of high- and low-calorie foods before and after eating. The OB group demonstrated increased neural response to high- and low-calorie foods after eating in comparison to the NW participants in frontal, temporal, and limbic regions. In addition, greater activation in corticolimbic regions (lateral OFC, caudate, anterior cingulate) to high-calorie food cues was evident in OB vs. NW participants after eating. These findings suggest that for OB individuals, high-calorie food cues show sustained response in brain regions implicated in reward and addiction even after eating. Moreover, food cues did not elicit similar brain response after eating in the NW group suggesting that neural activity in response to food cues diminishes with reduced hunger for these individuals.

The five-item CYBOCS-PDD is reliable, distinct from other measures of repetitive behavior, and sensitive to change.

ABSTRACT:We aim to determine long-term intellectual outcome of adolescents with early high-dose treated congenital hypothyroidism (CH). Sixty-three prospectively followed children with CH were assessed at age of 14 y with the Wechsler Intelligence Scale for Children-Revised and compared with 175 healthy controls. Median age at onset of treatment was 9 d (range 5-18 d) and median starting dose of levothyroxine (L-T4) was 14.7 g/kg/d (range 9.9 -23.6 g/kg/d). Full-scale intelligence quotient (IQ) was significantly lower than in controls after adjustment for socioeconomic status (SES) and gender (101.7 versus 111.4; p Ͻ 0.0001). Children with athyreosis had a lower performance IQ than those with dysgenesis (adjusted difference 7.6 IQ scores, p Ͻ 0.05). Lower initial thyroxine (T4) levels correlated with poorer IQ (r ϭ 0.27, p ϭ 0.04). Lower SES was associated with poorer IQ, in particular in children with CH (interaction, p ϭ 0.03). Treatment during childhood was not related to IQ at age 14 y. Adolescents with CH manifest IQ deficits when compared with their peers despite early high-dose treatment and optimal substitution therapy throughout childhood. Those adolescents with athyreosis and lower SES are at particular risk for adverse outcome. Therefore, early detection of intellectual deficits is mandatory in children with CH. (Pediatr Res 65: 242-248, 2009)

Many adults with Prader-Willi syndrome are affected by behaviors such as tantrums, skin-picking, and compulsions. The nature and extent of these problems suggest more attention be directed to their emergence in childhood. Our purpose was to investigate behavior problems in children with this syndrome and identify the age at which these behaviors emerge. Parents of children with Prader-Willi syndrome, Down syndrome, and those developing typically completed questionnaires. Children with Prader-Willi syndrome exhibited more compulsions, skin-picking, and tantrums than did the other groups. A discriminant analysis of behavior variables derived two statistically significant functions that were interpreted as developmental milestones and problematic behavior. These functions correctly predicted membership for 79% of grouped cases.

The presence and severity of compulsive behaviours may be evaluated via the Compulsive Behaviour Checklist (CBC) and this instrument has been successfully employed in people with intellectual disability. However, the applicability of the overall CBC scoring system, which entails tallying the number of behavioural categories represented (i.e. five) as well as the number of individual behaviours endorsed (i.e. 25), is not known in the population with Prader-Willi syndrome (PWS). The present investigation examined the latent variable structure of the CBC in people with PWS in order to identify possible population-specific scoring and interpretation considerations. The 25 behaviour-specific items of the CBC were analysed for 75 people with PWS (44 females and 31 males) aged between 4 and 41 years (mean +/- SD = 11.4+/-9.4) via factor analysis with principal component extraction and equamax rotation. The most suitable solution was determined on the basis of multiple empirical criteria: (1) the scree test; (2) eigenvalues >1.00; (3) salient loadings >0.30; (4) the clarity of item assignment to a single latent dimension; (5) the internal consistency of the latent dimension(s) (coefficient alpha > or = 0.70); and (6) item-total correlations between 0.20 and 0.79. In addition, solutions were examined with respect to psychological theory and previous research. A 'general factor' (i.e. single latent dimension) solution which adhered to all a priori criteria was indicated. Twenty-four out of 25 items achieved salient loadings ranging from 0.46 to 0.80 on the general factor. The single item which failed to achieve salience, 'deviant grooming-skin picking', exhibited both substantial unique variance (0.997) and moderate reliability (r = 0.59, P<0.001). The internal consistency of the general factor was strong (alpha = 0.93) and all salient items were suitably correlated with the unit-weighted total score (r(item-total) = 0.41-0.77). The traditional CBC scoring system, which includes tallying the number of categories represented, would not be relevant in this PWS sample. In addition, the recommended tallying of the number of individual behaviours endorsed does not reflect the empirically indicated notion of compulsive behaviour in this special population. These findings indicate that the 24 salient items should be scored as a unit-weighted composite and that the score on the substantially unique item (skin picking) should be considered a separate measure when evaluating compulsive behaviours via the CBC in people with PWS.

Prader-Willi syndrome (PWS), a neurodevelopmental disorder primarily characterized by hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the proximal arm of chromosome 15. Although maladaptive behavior and the cognitive profile in PWS have been well characterized, social functioning has only more recently been systematically examined. Findings to date indicate the social impairment exhibited may reflect specific difficulty interpreting and using social information effectively. In addition, evidence suggests that there is an increased risk of social deficits in people with the maternally-derived uniparental disomy (mUPD) subtype of PWS in comparison to those with 15q11-13 paternal deletion (DEL). Using the Social Responsiveness Scale (SRS) and the Social Competence Inventory, our goal was to compare social functioning in PWS to individuals with autism spectrum disorder (ASD). Participants with mUPD scored similarly to the ASD group across most SRS domains. All groups had difficulty with social competence, although the DEL group scored highest on prosocial behavior. Findings suggest further characterization of social behavior in PWS is necessary to aid in advancing the understanding of the contributions of genes in the 15q11-13 critical region to ASD susceptibility, particularly with respect to the overexpression of maternally expressed genes in this region, as well as aiding in awareness and development/implementation of interventions.

Prader-Willi syndrome (PWS) is caused by either the structural loss of material or the absence of gene expression from the paternally inherited copy of chromosome 15 in the q11-q13 region. In addition to a well-described behavioral phenotype that includes hyperphagia, obsessive-compulsive symptoms, disruptive behavior, and an increased risk for mood disorders, recent evidence also suggests that some individuals with PWS have repetitive behavior and social deficits reminiscent of autism spectrum disorders. In particular, it appears as if those with maternal uniparental disomy (UPD) as the cause of PWS are at greater risk for autistic symptomatology than those with paternal deletions of 15q11-q13. These findings are particularly intriguing in light of data implicating maternal duplications and triplications of the same chromosomal interval in idiopathic autism, as well as evidence that functional alterations of genes in this region are associated with social deficits found in a variety of neurodevelopmental disorders. This paper will review the recent evidence for phenotypic similarities between autism and PWS and the risk of symptomatology for the UPD subtype.