The molecular basis of cognitive deficits in pervasive developmental disorders

Persons with pervasive developmental disorders (PDD) exhibit a range of cognitive deficits that hamper their quality of life, including difficulties involving communication, sociability, and perspective-taking. In recent years, a variety of studies in mice that model genetic syndromes with a high risk of PDD have provided insights into the underlying molecular mechanisms associated with these disorders. What is less appreciated is how the molecular anomalies affect neuronal and circuit function to give rise to the cognitive deficits associated with PDD. In this review, we describe genetic mutations that cause PDD and discuss how they alter fundamental social and cognitive processes. We then describe efforts to correct cognitive impairments associated with these disorders and identify areas of further inquiry in the search for molecular targets for therapeutics for PDD.     

Attitude of mothers towards physical punishment as a counseling problem in small children with developmental disorders]

Using the questionnaire that has been specifically developed to obtain data on parental educational behavior, 294 mothers of 2-year-old children were studied and their attitudes towards corporal punishment correlated with characteristics and symptoms of children as well as with psychosocial factors. Low level of education and lack of domestic happiness proved to be essential conditions for acceptance of corporal punishment. Children with developmental disorders are especially endangered only because of their particular liability to disorders, but on account of the fact that they do not receive the same amount of clemency as do children who are liable to infections. Problems of maleducation should receive greater attention in the elimination of environmental dangers to healthy development of children as well as in counseling.     

Anxious-Irritable Children: A Distinct Subtype of Childhood Anxiety?

Children with anxiety disorders often present with other co-occurring symptom clusters, of which irritability is among the most highly co-occurring. Despite compelling clinical and pathophysiological evidence linking anxiety and irritability, little is known regarding the clinical presentation and associated impairment of children with both anxiety and irritability. In this study, our aims were to confirm the preponderance of irritability in clinically anxious children and compare clinically anxious children with irritability to those without irritability across sociodemographic, clinical, psychosocial, and family domains. Participants were 230 children with anxiety disorders (ages 6–14 years) and their mothers, and 91 healthy controls (ages 6–17 years) and their mothers. Of the clinically anxious children, 121 were anxious and irritable; 109 were anxious but not irritable. Irritability levels were significantly higher in the clinically anxious children compared with the healthy controls. Children with anxiety disorders and irritability presented with greater severity and impairment across clinical phenomenology, psychosocial, and family domains relative to anxious children without irritability. Regression analysis findings were convergent in that greater severity and impairment across these same domains predicted higher irritability levels in the children with anxiety disorders. Results support the meaningful distinction between anxious children with and without irritability. Implications of the findings are discussed particularly in regard to assessment and treatment and future research directions are delineated.     

Epileptic encephalopathies and their relationship to developmental disorders: do spikes cause autism?

Epileptic encephalopathies are progressive clinical and electroencephalographic syndromes where deterioration is thought to be caused by frequent seizures and abundant EEG epileptiform activity. Seizures occur in approximately 10-15% of children with pervasive developmental disorders (PDD) and 8-10% have epileptiform EEG abnormalities without seizures. Thirty percent of children with PDD have regression of social behavior and language at 2-3 years of age. Some authors speculate that the regression is caused by epileptiform activity even in the absence of overt clinical seizures ("autism with epileptic regression") and suggest that elimination of the epileptiform activity, either medically or surgically, should lead to improvement in behavior. This review examines the data showing that interictal epileptiform discharges are associated with transient clinical dysfunction and discusses the implications of these observations for autistic behavioral abnormalities. The results of resective surgery, vagal nerve stimulation, and multiple subpial transaction on children with autism and epileptiform EEG abnormalities are also discussed. I conclude that there is no evidence that interictal discharges per se cause (or contribute to) the complex behavioral phenotype of autism. There is no justification to support the use of anticonvulsant medication or surgery in children with PDD without seizures; that is, there is no evidence that treatment to eliminate EEG spikes will have a therapeutic effect on the behavioral abnormalities of PDD and autism.     

Behavioral aspects of epilepsy in children with mental retardation

Epilepsy and mental retardation, two relatively common childhood conditions, are both associated with a wide range of behavioral disorders. This article reviews the behavioral disturbances found in children with epilepsy, mental retardation, and both conditions. The behavioral disturbances found in children with epilepsy are associated with seizure-related, cognitive, developmental, and psychosocial factors. Although children with mental retardation also demonstrate a broad spectrum of behavioral disturbances, children with specific mental retardation syndromes have better-defined patterns of psychopathology. The presence of epilepsy and mental retardation seems to increase the severity of psychopathology. Further studies are needed, however, to define better the interaction of these two conditions and how they impact the behavior of children.     

自闭症谱系障碍的症状、诊断与干预

自闭症谱系障碍(autism spectrum disorders, ASD)是一种广泛发展障碍, 以社会交往障碍、言语和非言语交流缺陷、兴趣狭窄和行为刻板等为主要临床特征。对ASD的准确诊断是早期干预的关键, 也对患者的康复及其家庭幸福产生积极作用。日渐增长的发病率促进了对早期识别、诊断评估、以事实为基础干预的重视。在探索药物治疗ASD的基础上, 中国传统医学方法, 尤其是“靳三针”治疗ASD获得越来越多的实证支持。可以根据Simpson等人(2005)提出的指标体系对各种干预和治疗方法的疗效进行评价。今后研究将从认知神经科学的视角, 尤其是将眼动技术与ERP、fMRI相结合, 探索ASD的核心症状表征以及各亚类的特异性。     

Effects of object complexity and type on the gaze behavior of children with pervasive developmental disorder

The looking behavior of children with pervasive developmental disorder (PDD) and age- and IQ-matched normal control children was studied using infrared oculography. Stimuli varying in complexity and topic were presented to test whether children with PDD have specific abnormalities in looking behavior to complex stimuli and/or to faces. All children showed more and longer fixations on the complex objects than on the simple objects, especially the complex nonsense figure, but group differences were not found. The results show no evidence for specific abnormalities in looking behavior to either faces or to complex stimuli in high functioning children with PDD.     

Path analysis of variables affecting 36-month outcome in a population of multi-risk children

Path analysis was employed with data collected during a longitudinal neuro-behavioral follow-up study of multi-risk children. The relative impact of maternal medical history, drug abuse, and day-to-day functioning during pregnancy on the course of labor and delivery and on neonatal outcome was examined. The subsequent impact of each of these sets of variables on the child's developmental status at 36 months was then explored. An additional factor, which incorporated postnatal environmental and family functioning characteristics, was also included in the model. Maternal drug abuse had a significant effect on the course of labor and delivery, due in part to the impact of maternal drug abuse on family functioning. The results indicate that in this multi-risk population, environmental and psychosocial variables are important predictors of the child's developmental prospects.     

Genetic counselor as a member of an outreach education team

As part of a program to improve maternal and infant health in New Jersey, the Robert Wood Johnson Foundation has funded seven regional consortia throughout the State. One of the goals of the Northern New Jersey Regional Consortium is to provide a comprehensive educational program for ambulatory care staff. An outreach education team was established that includes a perinatal nurse educator, a neonatal nurse educator, a nutritional counselor and a genetic counselor. Many issues in genetics can be initially addressed by the ambulatory care provider. A good understanding and awareness of the impact of genetic issues in patient care is needed to enhance the ability to recognize patients needing special services. Early assessment of possible risk for developmental disabilities can lead to appropriate comprehensive care and improved pregnancy outcome. Regular in-service programs, addressing the way heredity contributes to developmental disorders, the latest techniques used in genetics and the available management programs, can be provided. The present study is an evaluation of the effectiveness of the program.     

Development in reading and math in children from different SES backgrounds: the moderating role of child temperament

Socioeconomic risks (SES risks) are robust risk factors influencing children's academic development. However, it is unclear whether the effects of SES on academic development operate universally in all children equally or whether they vary differentially in children with particular characteristics. The current study aimed to explore children's temperament as protective or risk factors that potentially moderate the associations between SES risks and academic development. Specifically, latent growth modeling (LGM) was used in two longitudinal datasets with a total of 2236 children to examine how family SES risks and children's temperament interactively predicted the development of reading and math from middle childhood to early adolescence. Results showed that low negative affect, high effortful control, and low surgency mitigated the negative associations between SES risks and both reading and math development in this developmental period. These findings underline the heterogeneous nature of the negative associations between SES risks and academic development and highlight the importance of the interplay between biological and social factors on individual differences in development.     

Later language development in narratives in children with perinatal stroke

Studies of young children with unilateral perinatal stroke (PS) have confirmed the plasticity of the developing brain for acquiring language. While recent studies of typically developing children have demonstrated the significant development of language well into adolescence, we know little regarding the course of language development in the PS group as they mature. Will children with PS continue to show the same remarkable plasticity that they exhibited at younger ages? In the present paper we investigate later language and discourse in children with perinatal stroke (ages 7–16) using spoken personal narrative as the discourse context. In contrast to the findings of the discourse studies of younger children with PS, children with left hemisphere lesions made more morphological errors, used less complex syntax and fewer syntactic types than controls; they also produced more impoverished story settings. In contrast, those with right hemisphere lesions performed comparably to controls, except in their impoverished use of complex syntax. The findings provide insight into the nature of later spoken language development in these children, revealing both the nature and extent of neuroplasticity for language as well as potential regional biases.     

Inadvertent exposure to pornography on the Internet: Implications of peer-to-peer file-sharing networks for child development and families

A request from the National Academies to prepare a presentation for a Workshop on Non-Technical Strategies to Protect Youth from Inappropriate Material on the Internet occurred before much was known about children, youth, and the Internet. The author's strategy was to investigate websites that cater to children and adolescents. The developmental issue of consumer socialization was raised by a visit to the Disney website. In contrast, the developmental issues of sexuality, aggression, and intergroup relations were raised by visits to chat rooms hosted by two different Internet Web portals. Examination of existing research literature, in conjunction with visits to the websites, led to the following conclusions: (1) Many parents are aware of the problems of making children the targets of commerce; however, they are quite unaware of the kind of social and cultural worlds young people are creating online. (2) Children and adolescents are not simply the targets of adult Internet creations; they are active participants in creating their own cybercultures, for example, in teen chat rooms. (3) The nature and norms of these cultures can be very much influenced by adult rules, regulations, and participatory monitoring. (4) The important developmental issues raised by this new medium are not unique to the Internet. For example, each psychosocial phenomenon from consumerism to sexuality to aggression has important manifestations in the culture at large.     

Die Bedeutung der Aufmerksamkeitsdefizit-/Hyperaktivitätsstörung für die Entstehung und Prognose von Störungen des Sozialverhaltens im Kindes- und Jugendalter

Attention Deficit/Hyperactivity Disorder (ADHD) and Conduct Disorder (CD) are two of the most common neurobehavioral disorders of childhood. Despite of their high comorbidity rate both disorders can be reliably differentiated. Especially the comorbid condition is associated with a poor outcome and some of the affected children develop an Antisocial Personality Disorder. This article summarizes diagnostic criteria and epidemiological data of both disorders and emphasises the role of ADHD in the aetiology and pathogenesis of antisocial behavior. ADHD seems to have a negative impact particular in children of the early-starter subtype of CD. Findings from genetic, psychophysiological and neuroimaging studies emphasise the relevance of biological risk factors in the etiological models and developmental pathways of antisocial behavior. We present so far unpublished data of children with ADHD and ADHD/disruptive behavior disorders which indicate group-specific neurocognitive impairments in the comorbid condition. ADHD and CD seem to constitute a synergistic and interactive relationship in that each disorder aggravates the other. Recent findings point to a “true hybrid” of ADHD/CD. Considering the negative outcome of the comorbid condition, several findings suggest that high-quality treatments may have considerable impact on restoring ADHD children to better functioning.     

Overanxious disorder: An examination of developmental differences

Differences between a clinical sample of younger (ages 5 to 11) and older (ages 12 to 19) children meeting DSM-III criteria for overanxious disorder (OAD) were examined. Younger and older children were compared in terms of (1) the rates of OAD diagnoses occurring in the two age groups, (2) sociodemographic characteristics, (3) symptom expression, (4) association with other forms of maladjustment, and (5) self-reported anxiety and depression. The prevalence of OAD diagnoses and sociodemographic characteristics did not differ. Although younger and older OAD children showed similar rates of most specific DSM-III OAD symptoms, older children presented with a higher total number of overanxious symptoms than younger children. Older children more frequently exhibited a concurrent major depression or simple phobia, whereas younger OAD children more commonly had coexisting separation anxiety or attention deficit disorders. Older OAD children reported significantly higher levels of anxiety and depression on self-report measures. Findings indicated that the expression of OAD varies by developmental level.     

Help-seeking and helping behavior in children as a function of psychosocial competence

Research on prosocial behavior has supported the belief that psychosocial competence characteristics enhance helping behavior. Tyler and others have hypothesized that helpseeking is also a constructive competence-related behavior. The present investigation was designed to assess whether the correlates of psychosocial competence differences found in more effective psychosocial functioning among primary school children in the U.S. would characterize children in India and be reflected in their help-seeking and helping behaviors. Twenty-eight pairs of 8 to 10-year-old children participated in this 3 × 2 factorial design study. High and low competence subjects were selected using scores on the Psychosocial Competence Incomplete Stories Test (PCIST) adapted for Indian children. Results show that constructiveness of helpseeking and helping were a function of psychosocial competence. This was also a three-way interaction effect of sex and psychosocial competence level of the helpseeker and of the helper on the level of constructiveness of help-seeking behavior. Tyler and colleagues had previously demonstrated that children from the U.S. who are more psychosocially competent (more self-efficacious, interpersonally trusting, and actively planful) function more effectively in their lives. The current results extend those findings by demonstrating that help-seeking and helping behavior are also a function of these psychosocial competence characteristics. They also indicate sex differences in the relationship of psychosocial competence to interpersonal interactions among these children in India. Psychosocial competence and developmental and cultural implications are noted.     

Systematic approach to the diagnosis of lysosomal storage disorders

Disorders that arise as a result of lysosomal dysfunction represent some of the most challenging diagnostic problems in medicine. Not only are these disorders infrequently seen, but they may also present with signs and symptoms that mimic perinatal injury, food intolerance, or the sequellae of neonatal infection. Misidentification can lead to significant delay in diagnosis. Ironically, as the prevailing economic climate places increasing time constraints on practicing physicians, medical research is providing treatment strategies and management techniques that are most effective if applied early in the course of the disease. Most lysosomal storage disorders can now be definitively diagnosed once the signs are recognized. In many cases the benefits of early diagnosis, enlightened management, and appropriate referral are considerable. The aim of this paper is to demystify this elusive class of diseases, to promote clinical vigilance in their detection, and to provide a systematic approach to diagnosis when clinical suspicion is aroused.     

Risks and Benefits of Pediatric Bone Marrow Donation: A Critical Need for Research

Healthcare providers assume that there are minimal risks and potential psychosocial benefits for children who undergo a bone marrow harvest for the benefit of their critically ill siblings. Ethical justifications for the use of children as donors rely on there being minimal risks since donors receive no direct medical benefits from the intervention. There is little empirical research regarding psychosocial consequences. This article reviews relevant research in three contexts: a) psychosocial outcomes for adults and children who donate tissue and organs; b) psychosocial impacts on a sibling of a pediatric cancer patient; and c) children's decision-making regarding medical decisions. The relevant research literature supports the belief that the psychosocial impact on a child bone marrow donor will be influenced by the survival of the recipient, the age of the donor, and the donor's participation in the decision to donate. In order to empirically validate the actual psychosocial risks (and benefits) for donors, it is argued that direct research is needed so that a donor's well-being can be protected.     

Prediction of childhood problems at three years in children experiencing disorders of regulation during infancy

The objective of this study was to determine if symptoms of regulatory disorder (RD) during infancy were related to clinical status at three years. Two age‐matched RD groups based on severity (N = 10 in mild RD group; N = 22 in moderate–severe RD group) and an age‐matched control group (N = 38) were evaluated at 7 and 30 months. A fourth group with pervasive developmental disorders (N = 18) also were tested. Problems with self‐regulation, including sleep, feeding, state control, self‐calming, sensory reactivity, mood regulation, and emotional and behavioral control, were documented during infancy. Children were retested at 36 months in their development, behavior, and play. Two child psychiatrists unfamiliar with the subjects' diagnostic classification during infancy provided diagnoses at 36 months. At 36 months, 60% of children with mild regulatory disorders did not meet criteria for any disorders, while 95% of infants with moderate regulatory disorders had diagnoses that fell into two diagnostic clusters: (1) delays in motor, language, and cognitive development and (2) parent–child relational problems. Most toddlers in the pervasive developmental disorder group were diagnosed as having PDD or autism with mental retardation or borderline intelligence at 36 months. Early symptoms are discussed as they relate to later diagnostic outcomes for the clinical samples. © 2000 Michigan Association for Infant Mental Health.     

Quality of Life of Children and Adolescents with Short Stature: The Twofold Contribution of Physical Growth and Adaptive Height-Related Cognitive Beliefs

This study aimed to examine the health-related quality of life (HrQoL), coping, height-related beliefs, and social support of children/adolescents with short stature, the sociodemographic, clinical, and psychosocial variables associated with HrQoL, and the moderating role of sociodemographic and clinical variables on the associations between psychosocial variables and HrQoL. 114 Portuguese children/adolescents with short stature, aged 8–18 years old, completed the Quality of Life in Short Stature Youth questionnaire and the Satisfaction with Social Support Scale. Regression analyses explained 54% of the variance of HrQoL, with significant main effects of current height deviation and height-related beliefs, and a significant interaction effect between beliefs and diagnosis. Results suggest that a multidisciplinary therapeutic approach, not only focused on hormone treatment to boost physical growth, but also including psychosocial interventions focused on the modification of height-related beliefs, may contribute to improve the HrQoL of pediatric patients with short stature.