Supporting siblings of children with a rare chromosome disorder

Siblings play an important role in children’s learning and development. Interactions with brothers and sisters provide opportunities to learn about sharing and emotional reciprocity, to develop social skills, to express thoughts and feelings, and to practise resolving conflict. But for children whose brother or sister has a disability, such as a rare chromosome disorder, some of these sibling experiences may be different. Many parents worry about how their non-disabled child will be affected by the experience of living with a brother or sister with a disability, and a great deal of research has explored both the possible negative consequences and also the potential benefits for siblings. In this article, we summarise the research findings and provide suggestions for ways that parents can support the positive development and well-being of all their children.

From ABCs to ADHD : the role of schooling the construction of behaviour disorder and the production of disorderly objects

Discussion of Attention-Deficit/Hyperactivity Disorder (ADHD) in the media, and thus much popular discourse, typically revolves around the possible causes of disruptive behaviour and the “behaviourally disordered” child. The usual suspects - too much television and video games, food additives, bad parenting, lack of discipline and single mothers – feature prominently as potential contributors to the spiralling rate of ADHD diagnosis in Western industrialised nations, especially the United States and Australia. Conspicuously absent from the field of investigation, however, is the scene of schooling and the influence that the discourses and practices of schooling might bring to bear upon the constitution of “disorderly behaviour” and subsequent recognition of particular children as a particular kind of “disorderly”. This paper reviews a sample of the literature surrounding ADHD, in order to question the function of this absence and, ultimately, make an argument for an interrogation of the school as a site for the production of disorderly objects.

Out of sight, out of mind/out of mind, out of site : Schooling and attention deficit hyperactivity disorder

Attention Deficit Hyperactivity Disorder is a diagnostic term now indelibly scored on the public psyche. In some quarters, a diagnosis of “ADHD” is regarded with derision. In others it is welcomed with relief. Despite intense multi-disciplinary research, the jury is still out with regards to the “truth” of ADHD. Not surprisingly, the rapid increase in diagnosis over the past fifteen years, coupled with an exponential rise in the prescription of restricted class psychopharmaceuticals has stirred virulent debate. Provoking the most interest, it seems, are questions regarding causality. Typically, these revolve around possible antecedents for “disorderly” behaviour – bad food, bad tv and bad parents. Very seldom is the institution of schooling ever in the line of sight. To investigate this gap, I draw on Foucault to question what might be happening in schools and how this may be contributing to the definition, recognition and classification of particular children as a particular kind of “disorderly”.

Countering the Attention Deficit Hyperactivity Disorder epidemic: a question of ethics?

Recently in Australia, another media skirmish has erupted over the problem we currently call “Attention Deficit Hyperactivity Disorder”. This particular event was precipitated by the comments of a respected District Court judge. His claim that doctors are creating a generation of violent juvenile offenders by prescribing Ritalin to young children created a great deal of excitement, attracting the attention of election-conscious politicians who appear blissfully unaware of the role played by educational policy in creating and maintaining the problem. Given the short (election-driven) attention span of government policymakers, I bypass government to question what those at the front line can do to circumvent the questionable practice of diagnosing and medicating young children for difficulties they experience in schools and with learning.

Expression pattern of the cannabinoid receptor genes in the frontal cortex of mood disorder patients and mice selectively bred for high and low fear

Although the endocannabinoid system (ECS) has been implicated in brain development and various psychiatric disorders, precise mechanisms of the ECS on mood and anxiety disorders remain unclear. Here, we have investigated developmental and disease-related expression pattern of the cannabinoid receptor 1 (CB1) and the cannabinoid receptor 2 (CB2) genes in the dorsolateral prefrontal cortex (PFC) of humans. Using mice selectively bred for high and low fear, we further investigated potential association between fear memory and the cannabinoid receptor expression in the brain. The CB1, not the CB2, mRNA levels in the PFC gradually decrease during postnatal development ranging in age from birth to 50 years (r 2 > 0.6 & adj. p < 0.05). The CB1 levels in the PFC of major depression patients were higher when compared to the age-matched controls (adj. p < 0.05). In mice, the CB1, not the CB2, levels in the PFC were positively correlated with freezing behavior in classical fear conditioning (p < 0.05). These results suggest that the CB1 in the PFC may play a significant role in regulating mood and anxiety symptoms. Our study demonstrates the advantage of utilizing data from postmortem brain tissue and a mouse model of fear to enhance our understanding of the role of the cannabinoid receptors in mood and anxiety disorders

The schooling experience of six adolescent boys who have been diagnosed with Attention Deficit/ Hyperactivity Disorder (AD/HD)

This thesis explored the experience of schooling of six adolescent boys diagnosed with AD/HD from the perspectives of the boys, their mothers and their teachers. The study utilised social constructionism as the theoretical orientation and an explanatory theory of AD/HD, the Dynamic Developmental Theory (DDT) of AD/HD as a framework. Findings included the importance of making and managing friendships for young people with AD/HD, the importance of being informed about AD/HD as well classroom strategies that support the learning of students for teachers, and the apparent role that medication in concert with an engaging classroom environment can play in the successful schooling of boys with AD/HD.

Teaching children who have a diagnosis of Autism Spectrum Disorder

Best practice dictates that the Autism Spectrum Disorder (ASD) diagnostic process is informed by experienced professionals from at least two disciplines, for example psychology or speech pathology, with the diagnosis ultimately provided by a specialist medical practitioner e.g. child psychiatrist, neurologist or paediatrician. Irrespective of a child’s age, diagnosis relies upon information about their early development. Current information and observations on a child’s behaviour, communication and socialisation are considered by the specialist medical practitioner against the signs and symptoms detailed in one of several diagnostic systems. Two recently used classification systems in Australia have been the fourth edition of the Diagnostic Statistical Manual of Mental Disorders (DSM-IV) published by the American Psychiatric Association (1994) and the tenth edition of the International Classification of Disease (ICD-10), published by the World Health Organisation (2003).

Vineland Adaptive Behavior Scales - II profile of young children with Autism Spectrum Disorder

Adaptive behaviour is a crucial area of assessment for individuals with Autism Spectrum Disorder (ASD). This study examined the adaptive behaviour profile of 77 young children with ASD using the Vineland-II, and analysed factors associated with adaptive functioning. Consistent with previous research with the original Vineland a distinct autism profile of Vineland-II age equivalent scores, but not standard scores, was found. Highest scores were in motor skills and lowest scores were in socialisation. The addition of the Autism Diagnostic Observation Schedule (ADOS) calibrated severity score did not contribute significant variance to Vineland-II scores beyond that accounted for by age and nonverbal ability. Limitations, future directions, and implications are discussed.

Post-school needs of young people with high-functioning Autism Spectrum Disorder

This study describes the post-school circumstances and service needs of older teenagers and adults with high-functioning Autism Spectrum Disorder, living in Queensland, Australia. The respondents were 95 parents. Results indicated that the majority of the young people lived in the family home and were unemployed. Of those who worked, 56% had unskilled jobs. They were estimated to spend a significant proportion of their time engaged in solitary, technology-based activities, and comparatively little time in employment or socialising. Parents rated employment support as the greatest service priority for their sons and daughters, followed by specialised support to assist with completing post-school education and training, assistance to support the transition from high school to adulthood, and social skills training.

Auditory - Visual Matching in Learning Disabilities : Intervention Studies from Finland and Sweden

The present thesis discusses relevant issues in education: 1) learning disabilities including the role of comorbidity in LDs, and 2) the use of research-based interventions. This thesis consists of a series of four studies (three articles), which deepens the knowledge of the field of special education. Intervention studies (N=242) aimed to examine whether training using a nonverbal auditory-visual matching computer program had a remedial effect in different learning disabilities, such as developmental dyslexia, Attention Deficit Disorder (ADD) and Specific Language Impairment (SLI). These studies were conducted in both Finland and Sweden. The intervention’s non-verbal character made an international perspective possible. The results of the intervention studies confirmed, that the auditory-visual matching computer program, called Audilex had positive intervention effects. In Study I of children with developmental dyslexia there were also improvements in reading skills, specifically in reading nonsense words and reading speed. These improvements in tasks, which are thought to rely on phonological processing, suggest that such reading difficulties in dyslexia may stem in part from more basic perceptual difficulties, including those required to manage the visual and auditory components of the decoding task. In Study II the intervention had a positive effect on children with dyslexia; older students with dyslexia and surprisingly, students with ADD also benefited from this intervention. In conclusion, the role of comorbidity was apparent. An intervention effect was evident also in students’ school behavior. Study III showed that children with SLI experience difficulties very similar to those of children with dyslexia in auditory-visual matching. Children with language-based learning disabilities, such as dyslexia and SLI benefited from the auditory-visual matching intervention. Also comorbidity was evident among these children; in addition to formal diagnoses, comorbidity was explored with an assessment inventory, which was developed for this thesis. Interestingly, an overview of the data of this thesis shows positive intervention effects in all studies despite learning disability, language, gender or age. These findings have been described by a concept inter-modal transpose. Self-evidently these issues need further studies. In learning disabilities the aim in the future will also be to identify individuals at risk rather than by deficit; this aim can be achieved by using research-based interventions, intensified support in general education and inclusive special education. Keywords: learning disabilities, developmental dyslexia, attention deficit disorder, specific language impairment, language-based learning disabilities, comorbidity, auditory-visual matching, research-based interventions, inter-modal transpose

Cognitive functioning and its heritability in bipolar I disorder

Bipolar I disorder is a severe psychiatric disorder characterized by episodic mood alterations that can be manic, depressive or mixed. Bipolar disorder seems to be highly genetic, but the etiology of this complex disorder has remained elusive. In recent years, studies have found that euthymic patients with bipolar disorder may have impairments particularly in executive functioning, verbal learning and memory. These impairments may be present also among some of the relatives of these patients, who may be vulnerable to the disorder. Using neuropsychological variables as endophenotypes, i.e. intermediate phenotypes between genes and the phenotypes, has been suggested to aid search for the etiological background of the disorder, but evidence is sparse on whether these variables fulfill the criteria for endophenotypes. The present thesis is part of the Genetic Epidemiology and Molecular Genetics of Severe Mental Disorders in Finland project. The specific aim was to investigate whether neuropsychological test variables would indicate genetic liability to the disorder and could therefore be regarded as endophenotypes. Thus, cognitive functions and their heritability were studied in bipolar I disorder patients and in their unaffected first-degree relatives from a population-based sample of families, comparing them to a population-based control group. In order to add homogeneity to the subgroups of bipolar disorder patients and their relatives, cognitive functions and their heritability were further studied in a group of families affected by bipolar I disorder only (bipolar families) and another group of families affected by both bipolar I disorder and schizophrenia or schizoaffective disorders (mixed families). Finally, the effect of processing speed on other cognitive functions was investigated. The study showed that especially executive functioning and processing speed fulfilled the endophenotype criteria. Impairments in these functions were found in bipolar patients and in their relatives irrespective of other severe psychopathology in the family. These functions were highly heritable in these families. Study also showed that generalized impairment in verbal memory may associate more with bipolar disorder than to vulnerability to other psychotic disorders, and be more related to fully developed disease; impairments in verbal learning and memory were found only in patients, and they were not found to be highly heritable. Finally, the most potential endophenotype, i.e. processing speed, seemed to contribute to a range of other cognitive dysfunctions seen in bipolar disorder patients. Processing speed, in particular, has also been shown to be a valid endophenotype in subsequent association analyses in psychiatric genetics in Finland and internationally. Information concerning cognitive impairments and their association with the psychosocial consequences of bipolar disorder is important in planning treatment. It is also important to understand and acknowledge that patients may have cognitive impairments that affect their everyday life. Psychosocial interventions and neuropsychological rehabilitation may supplement other conventional treatments for bipolar patients.

Plasma brain-derived neurotrophic factor levels, learning capacity and cognition in patients with first episode psychosis

Background: Cognitive impairments are seen in first psychotic episode (FEP) patients. The neurobiological underpinnings that might underlie these changes remain unknown. The aim of this study is to investigate whether Brain Derived Neurotrophic Factor (BDNF) levels are associated with cognitive impairment in FEP patients compared with healthy controls. Methods: 45 FEP patients and 45 healthy controls matched by age, gender and educational level were selected from the Basque Country area of Spain. Plasma BDNF levels were assessed in healthy controls and in patients. A battery of cognitive tests was applied to both groups, with the patients being assessed at 6 months after the acute episode and only in those with a clinical response to treatment. Results: Plasma BDNF levels were altered in patients compared with the control group. In FEP patients, we observed a positive association between BDNF levels at six months and five cognitive domains (learning ability,immediate and delayed memory, abstract thinking and processing speed) which persisted after controlling for medications prescribed, drug use, intelligence quotient (IQ) and negative symptoms. In the healthy control group, BDNF levels were not associated with cognitive test scores. Conclusion: Our results suggest that BDNF is associated with the cognitive impairment seen after a FEP. Further investigations of the role of this neurotrophin in the symptoms associated with psychosis onset are warranted.

Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.

Angelman syndrome (AS) is a neurobehavioral disorder associated with mental retardation, absence of language development, characteristic electroencephalography (EEG) abnormalities and epilepsy, happy disposition, movement or balance disorders, and autistic behaviors. The molecular defects underlying AS are heterogeneous, including large maternal deletions of chromosome 15q11-q13 (70%), paternal uniparental disomy (UPD) of chromosome 15 (5%), imprinting mutations (rare), and mutations in the E6-AP ubiquitin ligase gene UBE3A (15%). Although patients with UBE3A mutations have a wide spectrum of neurological phenotypes, their features are usually milder than AS patients with deletions of 15q11-q13. Using a chromosomal engineering strategy, we generated mutant mice with a 1.6-Mb chromosomal deletion from Ube3a to Gabrb3, which inactivated the Ube3a and Gabrb3 genes and deleted the Atp10a gene. Homozygous deletion mutant mice died in the perinatal period due to a cleft palate resulting from the null mutation in Gabrb3 gene. Mice with a maternal deletion (m-/p+) were viable and did not have any obvious developmental defects. Expression analysis of the maternal and paternal deletion mice confirmed that the Ube3a gene is maternally expressed in brain, and showed that the Atp10a and Gabrb3 genes are biallelically expressed in all brain sub-regions studied. Maternal (m-/p+), but not paternal (m+/p-), deletion mice had increased spontaneous seizure activity and abnormal EEG. Extensive behavioral analyses revealed significant impairment in motor function, learning and memory tasks, and anxiety-related measures assayed in the light-dark box in maternal deletion but not paternal deletion mice. Ultrasonic vocalization (USV) recording in newborns revealed that maternal deletion pups emitted significantly more USVs than wild-type littermates. The increased USV in maternal deletion mice suggests abnormal signaling behavior between mothers and pups that may reflect abnormal communication behaviors in human AS patients. Thus, mutant mice with a maternal deletion from Ube3a to Gabrb3 provide an AS mouse model that is molecularly more similar to the contiguous gene deletion form of AS in humans than mice with Ube3a mutation alone. These mice will be valuable for future comparative studies to mice with maternal deficiency of Ube3a alone.

Rapid tryptophan depletion improves decision-making cognition in healthy humans without affecting reversal learning or set shifting

Rapid tryptophan (Trp) depletion (RTD) has been reported to cause deterioration in the quality of decision making and impaired reversal learning, while leaving attentional set shifting relatively unimpaired. These findings have been attributed to a more powerful neuromodulatory effect of reduced 5-HT on ventral prefrontal cortex (PFC) than on dorsolateral PFC. In view of the limited number of reports, the aim of this study was to independently replicate these findings using the same test paradigms. Healthy human subjects without a personal or family history of affective disorder were assessed using a computerized decision making/gambling task and the CANTAB ID/ED attentional set-shifting task under Trp-depleted (n=17; nine males and eight females) or control (n=15; seven males and eight females) conditions, in a double-blind, randomized, parallel-group design. There was no significant effect of RTD on set shifting, reversal learning, risk taking, impulsivity, or subjective mood. However, RTD significantly altered decision making such that depleted subjects chose the more likely of two possible outcomes significantly more often than controls. This is in direct contrast to the previous report that subjects chose the more likely outcome significantly less often following RTD. In the terminology of that report, our result may be interpreted as improvement in the quality of decision making following RTD. This contrast between studies highlights the variability in the cognitive effects of RTD between apparently similar groups of healthy subjects, and suggests the need for future RTD studies to control for a range of personality, family history, and genetic factors that may be associated with 5-HT function.