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Reading and language abilities are critical for educational achievement and success in adulthood. Variation in these traits is highly heritable, but the underlying genetic architecture is largely undiscovered. Genetic studies of reading and language skills traditionally focus on children with developmental disorders; however, much larger unselected adult samples are available, increasing power to identify associations with specific genetic variants of small effect size. We introduce an Australian adult population cohort (41.7–73.2 years of age, N = 1505) in which we obtained data using validated measures of several aspects of reading and language abilities. We performed genetic association analysis for a reading and spelling composite score, nonword reading (assessing phonological processing: a core component in learning to read), phonetic spelling, self-reported reading impairment and nonword repetition (a marker of language ability). Given the limited power in a sample of this size (~80% power to find a minimum effect size of 0.005), we focused on analyzing candidate genes that have been associated with dyslexia and developmental speech and language disorders in prior studies. In gene-based tests, FOXP2, a gene implicated in speech/language disorders, was associated with nonword repetition (p < .001), phonetic spelling (p = .002) and the reading and spelling composite score (p < .001). Gene-set analyses of candidate dyslexia and speech/language disorder genes were not significant. These findings contribute to the assessment of genetic associations in reading and language disorders, crucial for understanding their etiology and informing intervention strategies, and validate the approach of using unselected adult samples for gene discovery in language and reading.
In this case report, we describe the clinical course of a 16 yr old asylum seeker from Afghanistan who developed paranoid schizophrenia complicated by catatonia and was successfully treated with diazepam and clozapine. To our knowledge, this is the first case report of its kind in this age group.
Our patient became psychotic and presented to A&E after cutting off the tip of his nose in response to command hallucinations telling him to kill himself, his mother and his siblings. His catatonic features, which emerged after hospitalization, were those of mutism, akinesia, posturing including the psychological pillow. He did not respond to risperidone or haloperidol; showed a partial response to lorazepam and diazepam. His catatonic features and psychosis only resolved upon the introduction of clozapine.
We go on to review the literature about catatonia in children and adolescents. We discuss the nosological dilemma with classification, the evolution of treatments and the role of anti-psychotic medication in the treatment of catatonia. Specifically, we advocate the usefulness of clozapine as an adjunct and as monotherapy.
Many memorable characters in Western culture could be viewed as having features of autism or Asperger syndrome. In spite of the familiarity of autistic stereotypes such as Star Trek‘s Mr Spock, more completely described characters with autism are still unusual. In recent years there has been a growing interest in autism, mirrored by an increase in depictions of autism in popular works of fiction and autobiography. In this article I will outline the issues that have preoccupied writers and the techniques they have used to demonstrate autistic difference. Some writers have illuminated aspects of the autistic triad of social impairment, abnormalities of language and need for sameness. Other writers have opened our eyes to the autistic world view in its strangeness and richness. Still more have started to examine prejudice, disability rights and the implications of an international autism community. As in other areas of mental health, literature can help inform, entertain and question our attitudes and values.
The central role of medication in the treatment of attention-deficit hyperactivity disorder (ADHD) in children and adolescents is the focus of controversy once more. Questions about the safety and appropriateness of medication have arisen both within and without the medical community. This coincides with the disappointing results for long-term ADHD treatment, illustrated recently by the first major outcome study to be published. Clinicians have had to contend with a number of public health scares following on from the actions of drug regulatory bodies, in addition to misinformation and misunderstanding from the media. Ironically, this comes at a time when we have an ever-widening range of medications and formulations available to us, and better-quality studies to inform treatment decisions. The recently published National Institute for Health and Clinical Excellence guidelines address some of these issues and provide a welcome summary and reference point for beleaguered clinicians.
A significant proportion of children who sustain traumatic brain injury will go on to experience disturbance in their academic, emotional, and social functioning. There is a role for medication in the treatment of these late onset changes. This review will focus on the recognition and pharmacological treatment of the most common and most problematic presentations that may follow head injury, and supports the use of stimulant medication for secondary attention-deficit–hyperactivity disorder despite the small evidence base for use in children.
We report on device quality Al0.28Ga0.72N/GaN heterostructures growth by low-pressure metalorganic chemical vapor deposition (LP-MOCVD) using intermediate AlxGa1-xN/GaN superlattices (SL) with x<0.15. High-quality Al0.28Ga0.72N/GaN heterostructures have been confirmed with HRXRD analysis by measurement of mosaic twist and tilt in growth films, SEM with selective etching and Van der Pauw Hall measurements. The edge and threading dislocations were efficiently filtered by the AlGaN/GaN SL resulting in further reduction dislocation densities at the channel. Additionally, the superlattice served to improve the planarity of the channel heterointerface as evidenced by x-ray and AFM analysis. The increase of 2-DEG mobility from ∼1187 cm2/V s to ∼1443 cm2/V s was obtained at the carrier density of 1.0 to 1.2×1013 cm−2 on heterostructures with intermediate AlGaN/GaN SL grown on sapphire.
We describe the clinical presentation, course, and treatment response of a 14-year-old boy with catatonic stupor. This patient, with a preexisting diagnosis of autism, displayed mutism, akinesia, and an extreme level of rigidity, waxy flexibility, posturing, including the psychological pillow, facial grimacing, and other involuntary movements of his upper extremities. In addition he had symptoms suggestive of a depressive disorder as well as some non-specific psychotic symptoms. Intravenous injection of sodium amytal failed to resolve any motor symptoms, although he showed a good response to the zolpidem test. A course of electroconvulsive therapy (ECT) caused dramatic and sustained relief of catatonic stupor without a change in the symptoms of autism. The presentation of catatonia in autism and the use of ECT in children are discussed, and the available literature reviewed. This is the first description of the use of ECT in the treatment of catatonia coinciding with autism and we confirm its efficacy.