Physical and developmental phenotype analyses in a boy with Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is a rare genetic condition with characteristic facial traits, organ malformations, functional impairment and developmental delay due to partial short arm monosomy of chromosome 4. Although several hundreds of cases have been published to date, a systematic collection of its clinical symptoms and anthropological traits is missing in the literature, and reports on abilities and needs of children with WHS are scanty. Results of detailed physical and developmental phenotype analyses in a 1 10/12-year-old boy with monosomy 4p15.2-pter are presented. Physical analyses were based on systematic data acquisition. They disclosed a total of 32 clinical symptoms and 46 anthropological traits. Developmental analyses were based on the child's interactive play in an environment structured according to Montessori principles. They disclosed a total of 44 abilities and a number of needs to be satisfied by the environment for the support of the child's psychic and intellectual growth. While the physical phenotype is important for the diagnostic process, the developmental phenotype is essential for parental counseling.     

Sex differences in young children’s use of tools in a problem-solving task

Three-year-old children were observed in two free-play sessions and participated in a toy-retrieval task, in which only one of six tools could be used to retrieve an out-of-reach toy. Boys engaged in more object-oriented play than girls and were more likely to use tools to retrieve the toy during the baseline tool-use task. All children who did not retrieve the toy during the baseline trials did so after being given a hint, and performance on a transfer-of-training tool-use task approached ceiling levels. This suggests that the sex difference in tool use observed during the baseline phase does not reflect a difference in competency, but rather a sex difference in motivation to interact with objects. Amount of time boys, but not girls, spent in object-oriented play during the free-play sessions predicted performance on the tool-use task. The findings are interpreted in terms of evolutionary theory, consistent with the idea that boys’ and girls’ play styles evolved to prepare them for adult life in traditional environments.     

Neurofeedback—The Significance of Reinforcement and the Search for an Appropriate Strategy for the Success of Self-regulation

Nine healthy children took part in five sessions of feedback and instrumental conditioning of slow cortical potentials (SCPs). The feedback conditions (the relation between the feedback signal and amplitude of SCP) were inverted after two sessions. Neither the children nor the therapists were aware of this change. The adjustment of the children to the new feedback setting and the self-regulation strategies employed were investigated. The results were as follows: (a) Healthy children achieved control over cortical negativity within two sessions. (b) The change of feedback conditions worsened the regulation abilities, which then improved again within the following three sessions. (c) After the first two sessions, the participants were able to describe strategies that were successful during different phases of self-regulation. (d) Following the change in the feedback conditions, the children re-evaluated the way they influenced their SCPs. However, they did not alter the cognitive or behavioral strategies. The study demonstrated that positive and negative reinforcement and the knowledge of results are more important for successful self-regulation than the search for effective strategies. The relevance of these findings is discussed.     

The pathogenesis of autism: insights from congenital blindness

There is substantial heterogeneity in the aetiology and clinical presentation of autism. So how do we account for homogeneity in the syndrome? The answer to this question will be critical for any attempt to trace the links between brain pathology and the psychological disabilities that characterize autism. One possibility is that the source of homogeneity in autism is not to be found ''in the child'', but rather in dysfunction of the system constituted by child-in-relation-to-other. We have been exploring this hypothesis through the study of congenitally blind children, among whom features of autism, and the syndrome of autism itself, are strikingly common. To justify such an approach, one needs to establish that the clinical features in blind children have qualities that are indeed ''autistic-like''. We conducted systematic observations of the social interactions of two matched groups of congenitally blind children who do not have autism, rating their social engagement, emotional tone, play and language during three sessions of free play in the school playground. The qualities of social impairment in the more disabled children were similar to those in sighted children with autism. Additional evidence came from independent ratings of the children in a different play setting: on the childhood autism rating scale (CARS), the socially impaired children had ''autistic-like'' abnormalities in both social and non-social domains. If we can determine the way in which congenital blindness predisposes to features of autism, we shall be in a better position to trace the developmental pathways that lead to the syndrome in sighted children.     

Auditory-Motor Mapping Training: Comparing the Effects of a Novel Speech Treatment to a Control Treatment for Minimally Verbal Children with Autism

This study compared Auditory-Motor Mapping Training (AMMT), an intonation-based treatment for facilitating spoken language in minimally verbal children with autism spectrum disorder (ASD), to a matched control treatment, Speech Repetition Therapy (SRT). 23 minimally verbal children with ASD (20 male, mean age 6;5) received at least 25 sessions of AMMT. Seven (all male) were matched on age and verbal ability to seven participants (five male) who received SRT. Outcome measures were Percent Syllables Approximated, Percent Consonants Correct (of 86), and Percent Vowels Correct (of 61) produced on two sets of 15 bisyllabic stimuli. All subjects were assessed on these measures several times at baseline and after 10, 15, 20, and 25 sessions. The post-25 session assessment timepoint, common to all participants, was compared to Best Baseline performance. Overall, after 25 sessions, AMMT participants increased by 19.4% Syllables Approximated, 13.8% Consonants Correct, and19.1% Vowels Correct, compared to Best Baseline. In the matched AMMT-SRT group, after 25 sessions, AMMT participants produced 29.0% more Syllables Approximated (SRT 3.6%);17.9% more Consonants Correct (SRT 0.5); and 17.6% more Vowels Correct (SRT 0.8%). Chi-square tests showed that significantly more AMMT than SRT participants in both the overall and matched groups improved significantly in number of Syllables Approximated per stimulus and number of Consonants Correct per stimulus. Pre-treatment ability to imitate phonemes, but not chronological age or baseline performance on outcome measures, was significantly correlated with amount of improvement after 25 sessions. Intonation-based therapy may offer a promising new interventional approach for teaching spoken language to minimally verbal children with ASD.     

Canine-assisted Speech Therapy for Children with Communication Impairments: A Randomized Controlled Trial

Developmental dysphasia (DD) is a disorder resulting in a communication impairment. Children diagnosed with this condition are usually referred to a speech therapist. Further to conventional speech therapy it is possible to adopt a complementary animal-assisted approach. For the present study, we assembled a cohort comprising 69 children diagnosed with DD. The children in the experimental group (n = 31; 21 male, 10 female) ranged from 4 to 7 years (M = 5.53 years, SD = 0.81 years). The control group was comprised of children (n = 38; 31 male, 7 female) aged from 4 to 6 years (M = 4.85 years, SD = 0.51 years). While the latter received traditional speech therapy, the experimental group experienced sessions enhanced by animal-assistance therapy (AAT) with a dog present for co-therapy purposes. As primary outcome measures, the Kwint-Stambak (KS) test was adopted (for assessing facial motricity), together with the Bruininks-Oseretsky (BO) test (for evaluating motor proficiency). Both of these revealed statistically significant improvement in some primary outcome measures for the experimental group over the control group. Regarding narrowing and shutting of the eyes, as well as filling up the cheeks with air and smiling (as measured by the KS test), the experimental group did significantly better than the control group. The inclusion of dogs in such therapy increased the chances of success in certain abilities, when assessed by the KS and BO tests (odds ratios for success: 1.6 and 2.0, respectively), compared with the control group. Canine-assisted speech therapy may be a valuable tool for enhancing the effect of speech therapy on children with DD, and we speculate that the reason for this relates to the nature of communication between children and companion animals.     

Sensory Training in Soviet Kindergartens and the Task of Forming Children's Perception

Initially, sensory training in Soviet kindergartens was done largely through the Montessori system. Yu. I. Fausek (216) was the primary supporter of Montessori's ideas. Her activity, however, was by no means a simple duplication of the content and methods of sensory training proposed by Montessori. Fausek brought much into the system that was original; more importantly, she substantially modified the role of educational guidance. She supplemented the children's independent work on didactic materials with elements of direct instruction carried out by the teacher.     

Comparison of Biofeedback and Relaxation in the Treatment of Pediatric Headache and the Influence of Parent Involvement on Outcome

The relative efficacy of EMG-frontalis feedback and progressive relaxation was examined in children with tension-type or combined headaches (8–14 yrs. old). Furthermore, the influence of parent involvement, in the form of a three-session educational approach, on training outcome was systematically explored (2 × 2 factor design). Fifty children took part in the study, 40 were randomly assigned to the four different treatment conditions, 10 children participated in the self-monitoring control group. The training comprised 6 sessions of 1 hr each in the relaxation treatment and 12 sessions of 1/2 hr duration in the biofeedback group. Headache diaries were kept by children and parents for 4-week period prior to therapy, and for a similar length of time at post-treatment and follow-up (6 months). Multivariate analyses of variance on the headache diary data yield no significant main or interaction effects of treatment format or of parent involvement, but only a main effect of period, indicating a general efficacy of the four treatment conditions. At follow-up the reduction of headache activity is even more prominent. A different evaluative approach points to the superiority of biofeedback revealing a mean effect size for biofeedback training that reflects a good to excellent improvement rate. Correlations between headache data from children and parents are high.     

Social Effects of a Dog's Presence on Children with Disabilities

ABSTRACT

Productive and positive interactions between dogs and humans have been documented in studies using dogs trained as companion animals and as assistants for people with disabilities. In this study, the effects of the presence of a dog on social interactions between three 5–9-year-old children with developmental disabilities and their teacher at an elementary school were analyzed. A single-case experimental design with repeated measures and with replicated effects across participants was employed to assess changes in interactions from baseline to an intervention condition. During baseline, interactions were assessed in the social environment of a room adjacent to the classroom, which had a toy dog and other play materials, during time with the teacher. The experimental change introduced sequentially and systematically across the participants was the additional presence of an obedience-trained dog, a German Shepherd/Labrador Retriever cross. Interactions between the children and their teacher were examined during morning sessions using reliable direct observation interval recording procedures. All participants demonstrated an increase in overall positive initiated behaviors (verbal and non-verbal) toward both the teacher and the dog. The children also showed an overall decrease in negative initiated behaviors. In addition, observational ratings showed positive generalization of improved social responsiveness by the children in their classroom following the completion of the experimental sessions. This study supports the position that children with developmental disabilities benefit from the use of skilled dogs as teaching assistants and therapeutic adjuncts.     

Self-regulation of Slow Cortical Potentials in Children with Migraine: An Exploratory Study

Migraine patients are characterized by increased amplitudes of slow cortical potentials (SCPs), representing pronounced excitability of cortical networks. The present study investigated the efficiency of biofeedback training of SCPs in young migraineurs. Ten children suffering from migraine without aura participated in 10 feedback sessions. They were compared with 10 healthy children for regulation abilities of cortical negativity and with 10 migraineurs from the waiting list for clinical efficacy. During the first two sessions, the migraine children were characterised by lacking ability to control cortical negativity, especially during transfer trials, compared with healthy controls. However, there was no difference following 10 sessions of training. Feedback training was accompanied by significant reduction of cortical excitability. This was probably responsible for the clinical efficacy of the training; a significant reduction of days with migraine and other headache parameters was observed. It is suggested that normalization of the threshold regulation of cortical excitability during feedback training may result in clinical improvement.     

Play behavior in immature moor macaques (Macaca maura) and Japanese macaques (Macaca fuscata)

Play is widespread across mammalian taxa, but species strongly vary in the ways they play. In less despotic primate species (i.e., with less steep dominance hierarchies, less severe conflicts, and more reconciliation), play has been described as being more frequent, cooperative, and freely expressed. To study the link between social play and dominance style, we compared play behavior in free-ranging infants, juveniles and subadults of more despotic Japanese macaques (Macaca fuscata, N = 24) and less despotic moor macaques (Macaca maura, N = 17). We found interspecific differences in play behavior that corresponded with the contrasting dominance styles of the study species, largely confirming our predictions. In particular, moor macaques spent a larger proportion of time in solitary and social play than Japanese macaques, while Japanese macaques spent a larger proportion of time in grooming interactions. In moor macaques, play sessions included more players, a larger variety of play behaviors, greater play face rates, a greater proportion of time in contact play, and a higher rate of reciprocal play-biting than in Japanese macaques. Aggressive escalations were not common, but more frequent in Japanese macaques. Finally, a higher frequency of play faces during play sessions predicted the occurrence of more reciprocal play-bites, but not the proportion of time spent in contact play behaviors. Additional studies on other groups and species will allow a better understanding of the link between dominance style and social play.     

The distribution of lateral phenotypes in six- to seven-year-old children

An approach to the estimation of the lateral phenotype in children has been developed. During the study, more than 20 lateral phenotypes were identified in six-to seven-year-old children. The most frequent are the following lateral phenotypes: dextrality (motor and sensory), motor dextrality and sensory sinistrality, and motor dextrality and sensory ambidexterity (with a dominant left ear and right eye and with a dominant right ear and left eye). Unilateral left-handers accounted for 0.1% of all children studied; thus, the use of the laterality profile of motor functions as a “marker” of the brain functional asymmetry is rather questionable.     

Differential long bone growth of children between two months and eleven years of age

Diaphyseal lengths of the humerus, radius, femur and tibia of upper-middle class White children between two months and 11 years of age show positive allometric growth, indicating substantial shape or proportional change. The segments of the lower extremity display greater allometric increase than the humerus and radius; variation in relative growth within each extremity is small and inconsistent. Sex differences are consistent, with slightly greater proportional increases demonstrated for boys. The results suggest that absolute intralimb variation in growth, following a disto-proximo growth or maturity gradient, is due to initial differences in size or scale and not to differences in patterns of growth. Developmental variation between extremities is due to scaling plus variation in relative growth patterns.     

Preventive Pediatrics in Medical Education: I. Child Health and the Organization of Preventive Pediatrics in Canada

Any appraisal of child health in Canada must contend with broad cultural and geographical differences reflected in variations in demological and sociological data. However, the data presently available suggest the following trends: (1) Infant and neonatal mortality decreases with the improved facilities of urbanization, but many psycho-social variables need evaluation. (2) Developmental and behavioural problems are the chief areas of parental concern relative to the preschool and adolescent child. (3) Handicapped children require a highly integrated complex of community services of habilitation and rehabilitation. (4) Programs in accident prevention are feasible.     

Postnatal Development of Noradrenaline and 3-Methoxy-4-Hydroxyphenylethyleneglycol Sulphate Levels in Rat Brain Regions

Abstract: Developmental changes in brain levels of noradrenaline (NA) and 3-methoxy-4-hydroxyphenylethyleneglycolsulphate (MHPG-SO₄) were studied in rats. In most brain regions, MHPG-SO₄ level rapidly increased to approach or exceed adult levels at the time of weaning, while NA levels increased more gradually and reached adult levels following weaning, Pharmacological studies showed that the MHPG-SO₄ level in the neonatal brain reflects the degradation of released NA. The developmental characteristics of noradrenergic neurons in eight discrete brain regions are discussed.     

Apolipoprotein E,brain injury and neurodevelopmental outcome of children

Apolipoprotein E plays an important role in neurodegenerative processes in adulthood, whereas its neurodevelopmental role is uncertain. We aimed to study the effect of apolipoprotein E on neurodevelopment in a cohort liable to neurodevelopmental changes. The cohort consisted of very preterm (<32 gestational weeks) and/or very low birth weight (<1500 g) children, and the longitudinal follow‐up protocol included sequential cranial ultrasounds during infancy, brain magnetic resonance imaging at term‐equivalent age, neurological and cognitive assessment (Mental Developmental Index) at the corrected age of 2 years and cognitive and neuropsychological assessments (Wechsler Preschool and Primary Scale of Intelligence and Developmental NEuroPSYchological Assessment) at the chronological age of 5 years. Apolipoprotein E genotypes were determined from 322 children. Ultrasound and magnetic resonance imaging data were available for 321 (99.7%) and 151 (46.9%) children, respectively. Neurodevelopmental assessment data were available for 138 (42.9%) to 171 (53.1%) children. Abnormal findings in ultrasounds and magnetic resonance imaging were found in 163 (50.8%) and 64 (42.4%) children, respectively. Mild cognitive delay at the corrected age of 2 years and the chronological age of 5 years was suspected in 21 (12.3%) of 171 and 19 (13.8%) of 138 children, respectively. In the Developmental NEuroPSYchological Assessment, 47 (32.6%) of 144 children had significantly impaired performances in more than one study subtest. No associations between the apolipoprotein E genotypes and imaging findings or measured neurodevelopmental variables were found. Apolipoprotein E genotypes do not appear to have major impact on brain vulnerability or neurodevelopment in children .     

The function of friends in preschoolers' lives: at the entrance to the classroom

The function of friendships and peer attachment in preschoolers' everyday lives is examined from the ethological view point. It is postulated that a child invests time and energy in friends or play partners chosen by him/herself: the child collects information about the friends and attempts to influence their special behavioural tendencies to his/her own advantage. As a result of this long-term investment, the friends are more predictable, controllable, and cooperative. It is hypothesized that a child uses and benefits from the friends in attempts to reach his/her personal goals. This study examines whether a child benefits from friends in attempts to join in play. Seventeen German preschool children (10 boys and 7 girls) ranging in age from 36 to 79 months were observed on arrival at school on 18 preschool days. When friends were present in the classroom, children first approached peers more often than when friends were not present; otherwise they approached the teacher. Friends often actively initiated interaction with arriving children, for example by calling the child's name. Success in joining in play was highest when friends were chosen as the target of the approach. During approaches to friends, tactics were more frequently used which require specific information about the target. However, when friends were playing with nonfriends of the children, benefits such as initiation by the target and the larger range of alternatives in strategies were not observed. The results support the hypothesis that a child uses and benefits from friends. The results further suggest that the relationships of friends with other peers disturb the beneficial effects of friends and that such relationships even increases the costs in interactions with friends.     

Mutation of the dyslexia-associated gene Dcdc2 impairs LTM and visuo-spatial performance in mice

Developmental reading disorder (RD) affects 5-10% of school aged children, with a heritability of approximately 60%. Genetic association studies have identified several candidate RD susceptibility genes, including DCDC2; however, a direct connection between the function of these genes and cognitive or learning impairments remains unclear. Variants in DCDC2, a member of the doublecortin family of genes, have been associated in humans with RD and ADHD and Dcdc2 may play a role in neuronal migration in rats. In this study, we examined the effect of Dcdc2 mutation on cognitive abilities in mice using a visual attention and visuo-spatial learning and memory task. We show that both heterozygous and homozygous mutations of Dcdc2 result in persistent visuo-spatial memory deficits, as well as visual discrimination and long-term memory deficits. These behavioral deficits occur in the absence of neuronal migration disruption in the mutant mice, and may be comorbid with an anxiety phenotype. These are the first results to suggest a direct relationship between induced mutation in Dcdc2 and changes in behavioral measures. Dcdc2 mutant mice should prove useful in future studies designed to further dissect the underlying neural mechanisms that are impaired following Dcdc2 mutation.     

Identifying Indices of Learning for Alpha Neurofeedback Training

Neurofeedback has been around for decades and has applications for both clinical and healthy populations yet there is no standard method for measuring learning or a way of defining successful learning. Thus the aim of this study was to focus on alpha neurofeedback and examine changes in three different measures: amplitude, percent time, and integrated alpha, across four methods: within sessions, across sessions, within sessions compared to baseline, and across sessions compared to baseline. Participants completed 10 weekly sessions of eyes open alpha (8–12 Hz) neurofeedback training (NFT) at Pz. Whilst all three measures showed changes within sessions, the inclusion of baselines revealed that such changes represented a return to baseline levels rather than an increase in alpha. Changes across sessions were only evident in amplitude and inclusion of baseline showed that NFT did not elicit any changes beyond baseline levels. Given this a case is made for incorporating baseline measures when attempting to identify evidence of learning. It is also suggested that both amplitude and percent time measures are used independently rather than incorporate them into a more conservative and less sensitive integrated measure. Finally, focusing on within sessions changes may be a more useful approach in identifying changes resulting from NFT.     

Social play in bonobos (Pan paniscus) and chimpanzees (Pan troglodytes): Implications for natural social systems and interindividual relationships

This study compares adult play behavior in the two Pan species in order to test the effects of phylogenetic closeness and the nature of social systems on play distribution. The social play (both with fertile and immature subjects) performed by adults did not differ between the two species. In contrast, in bonobos, play levels among fertile subjects were higher than in chimpanzees. Findings regarding levels of undecided conflicts (more frequent in bonobos) and formal submission displays (lacking in bonobos) confirm, in the two colonies under study, that bonobos exhibit "egalitarianism" more than chimpanzees. Some authors emphasized the importance of play-fighting for social assessment when relationships among individuals are not codified and structured according to rank-rules. Indeed, adult bonobos played more roughly than chimpanzees. Moreover, adult bonobos displayed the full play-face at a high frequency especially during rough play sessions, whereas in chimpanzees, the frequency of play signals was not affected by roughness of play. The frequency of social play among bonobo females was higher than in any other sex combinations, whereas no difference was found for chimpanzees. As a matter of fact, social play can be viewed as a balance between cooperation and competition. Among bonobo females, characterized by social competence and affiliation, social play might enhance their behavioral flexibility and increase their socially symmetrical relationships which, after all, are the basis for their egalitarian society.