Robert Stowe

University of British Columbia | UBC · Departments of Psychiatry and Neurology (Medicine)

Chromosome 1p32-p31 deletion syndrome, which is characterized by a variety of neurodevelopmental abnormalities, is thought to occur as a result of nuclear factor 1A (NFIA) haploinsufficiency. We present a case of a right-handed 40-year-old female with a 1p31.3 deletion, who exhibited numerous common features of this syndrome, in addition to treatme...

Introduction: Relationships between subjective cognitive functioning (SCF), objective cognitive functioning (OCF), and depressive symptoms are poorly understood in treatment-resistant psychosis (TRP). This study (a) compares SCF in TRP using positively and negatively worded scales, (b) assess these scales' accuracy, and (c) explores the association...

One of the concerns limiting the use of clozapine in schizophrenia treatment is the risk of rare but potentially fatal myocarditis. Our previous genome-wide association study and human leucocyte antigen analyses identified putative loci associated with clozapine-induced myocarditis. However, the contribution of DNA variation in cytochrome P450 gene...

One of the concerns limiting the use of clozapine in schizophrenia treatment is the risk of rare but potentially fatal myocarditis. Our previous genome-wide association study and human leucocyte antigen analyses identified putative loci associated with clozapine-induced myocarditis. However, the contribution of DNA variation in cytochrome P450 gene...

The UBC MAGERS (Metabolic and Genetic Explorations in Refractory Schizophrenia) Study is an intensive pilot, multimodal -omics and psychiatric genetic counselling research project conducted in participants with highly treatment-resistant schizophrenia or schizoaffective disorder hospitalized in the tertiary provincial BC Psychosis Program Unit at U...

The UBC MAGERS (Metabolic and Genetic Explorations in Refractory Schizophrenia) Study is an intensive pilot, multimodal -omics and psychiatric genetic counselling research project conducted in participants with highly treatment-resistant schizophrenia or schizoaffective disorder hospitalized in the tertiary provincial BC Psychosis Program Unit at U...

This is the first whole transcriptome analysis for a patient with CHD8 haploinsufficiency

The implementation of pharmacogenomic (PGx) testing in psychiatry remains modest, in part due to divergent perceptions of the quality and completeness of the evidence base and diverse perspectives on the clinical utility of PGx testing among psychiatrists and other healthcare providers. Recognizing the current lack of consensus within the field, th...

The 3q29 deletion is a rare copy number variant associated with neurodevelopmental and psychiatric disorders, including a >40-fold increased risk for schizophrenia. Current understanding of the clinical phenotype is derived primarily from published cases of patients in childhood or early adolescence. Symptoms include mild to moderate learning disab...

Psychiatric symptoms are common manifestations in many inborn errors of metabolism (IEMs), ranging from attention deficit, anxiety and mood and behavioral disorders to psychosis. Furthermore, IEMs represent a significant percentage of all autism cases. We reviewed and updated the list of metabolic disorders known to be associated with various psych...

Objective: Prior research has suggested that treatment-resistant psychosis (TRP) may be a categorically distinct subtype from treatment-responsive psychotic disorders. However, relatively few studies have investigated the cognitive profile of individuals with TRP. Moreover, no prior studies have investigated the effectiveness of using the NIH Toolb...

The UBC MAGERS (Metabolic and Genetic Explorations in Refractory Schizophrenia) Study is an intensive pilot, multimodal -omics and psychiatric genetic counselling research project conducted in participants with highly treatment-resistant schizophrenia or schizoaffective disorder hospitalized in the tertiary provincial BC Psychosis Program research...

A decade ago, we described novel de novo submicroscopic deletions of chromosome 14q11.2 in three children with developmental delay, cognitive impairment, and similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid’s bow of the upper lip, full lower lip, and auricular anomalies. We...

Background Understanding the molecular basis of Schizophrenia (SCZ) is one of the most significant problems in psychiatry. The minimal identification of single genes greatly limits the actionability of genomic findings - we need single gene targets for clinical utility, etiological investigation, and therapeutic development. Modern SCZ association...

Introduction: Overabundant dendritic growth and branching is a developing treatment target in neurodevelopmental (NDDs) and major psychiatric disorders (MPDs) Methods: Microarray screening was used to detect rare and novel chromosomal copy number variants (CNVs) in patients with NDDs and MPDs. Case-based genotype-phenotype correlation was perfor...

There is ample evidence of an important role of descending serotonergic projections in modulating spinal motor neuron activation and firing, and experimental studies suggest that 5-HT receptor stimulation can improve motor function after spinal cord injury; however, relevant clinical data is sorely lacking. We describe two sisters with hemiplegic m...

Although liver transplant for decompensated cirrhosis secondary to Wilson disease is well accepted, the use of transplant for patients with severe neurologic manifestations of this condition remains controversial, and these can be perceived as a contraindication. Here, we describe a 45-year-old woman who presented with an incidental hepatocellular...

A 63-year-old right-handed man was admitted to a neurobehavioral unit for investigation and management of intractable obsessive-compulsive disorder (OCD), which had begun 17 years earlier following accidental carbon monoxide poisoning. The poisoning was treated in an emergency room with oxygen, and he was released several hours later. Over the next...

A 63-year-old right-handed man was transferred to a neuropsychiatric unit for an assessment because of irritability, dysphoria, agitation, and aggression. One year earlier, he had developed acute left-sided numbness and confusion while driving and had driven his car into a stranger's front yard. The police who attended the scene found him to be con...

This chapter presents a case of a 71-year old man with severe cognitive and functional deterioration due to a somewhat atypical presentation of psychotic depression, originally misdiagnosed as Creutzfeld-Jacob disease. Aggressive antidepressant treatment with antipsychotic augmentation led to full cognitive and functional recovery. The neurocogniti...

In this study, we report the case of a patient experiencing hallucinations of faces that could be reliably precipitated by looking at trees. Using functional Magnetic Resonance Imaging (fMRI), we found that face hallucinations were associated with increased and decreased neural activity in a number of cortical regions. Within the same fusiform face...

While spatial neglect most commonly occurs after right hemisphere lesions, damage to diverse areas within the right hemisphere may lead to neglect, possibly through different mechanisms. To identify potentially different causes of neglect, the visual information used (the 'perceptual template') in a cueing task was estimated with a novel technique...

Posttraumatic stress disorder is a clinical condition that develops in some individuals after exposure to major psychological trauma. It is characterized by distressing symptoms, including re-experiencing of the inciting event(s), hypersensitivity to trauma-related stimuli and chronic hyperarousal.

This article reviews the clinical differential diagnosis and phenomenology of catatonia in the context of neuroanatomical, neurophysiological and neurochemical observations that may help to elucidate our pathophysiological understanding of this complex and fascinating neuropsychiatric syndrome. Abstract: Résumé : Concepts actuels de la physiopatho...

To evaluate the inter-rater reliability and validity of clinical diagnostic criteria for neurodegenerative dementias. Inter-rater accuracy of the diagnosis of AD has been explored, but there are few accuracy studies for progressive supranuclear palsy (PSP) and frontotemporal lobe dementia (FTD). Furthermore, there have been no simultaneous accuracy...

Patients with right and left hemisphere stroke (RH, LH) and a control group (CG) were administered a structured clinical interview (SCID-R) and rating scales for anxiety and depression (Center for Epidemiologic Studies Depression Scale, Beck Anxiety Inventory, and Hamilton Depression Rating Scale). The three groups did not differ when compared for...

This study reports the case of a 16-year-old male who presented with a history of prominent psychotic symptoms and paranoid delusions which overshadowed subtle signs and symptoms of cognitive and motor dysfunction. Intensive neurobehavioral and biochemical investigations eventually led to the diagnosis of Niemann–Pick disease, type C (NPC), an auto...

The purpose of this Chapter is to describe an approach to the clinical assessment of patients presenting to a physician for evaluation of cognitive, behavioral, and/or psychiatric symptoms, in the setting of known or suspected diseases of the central nervous system, as seen from the perspective of a behavioral neurologist working in a psychiatric h...

In phonological dyslexia, nonword reading is impaired while the reading of both regular and irregular words is preserved. Many phonological dyslexics are able to repeat the same nonwords that they are unable to read. This constellation of abilities and deficits has been interpreted as the result of impairment in the ability to translate orthography...

The term impulse control disorder, as used in the revised third edition of the Diagnostic and Statistical Manual of Mental Disorders (American Psychiatric Association, 1987), subsumes a variety of conditions in which there is a failure to resist the drive or temptation to commit acts potentially harmful to the patient or others. These include psych...

Tardive dyskinesia is a chronic, often permanent, movement disorder that has been reported in elderly patients receiving metoclopramide. We describe an 8-year-old boy with tardive dyskinesia that developed when he received metoclopramide as part of therapy for gastroesophageal reflux and erosive esophagitis.

Two adult patients are described who suffered bilateral prefrontal damage early in life and who subsequently came to psychiatric attention because of severely aberrant behaviour. A battery of developmental psychology paradigms (not previously used to assess neurologically impaired individuals) showed that social and moral development of these 2 pat...